A couple of months ago I posted about Jaxson's heart rearing up and having to do some things with Neurosurgery. Since then, I've only been able to post on his Facebook page a few times, so I'm going to section everything out again.
Cardiology: After the 24-hour EKG, Jaxson was diagnosed with a wandering pacemaker and PVC's. A wandering pacemaker happens when the electrical signal that tells the heart to beat fires from the bottom of the atria instead of the top. PVC's are early heartbeats. While these are things to monitor, they are not putting stress on Jaxson's heart. Good news.
Urology: Jaxson's urodynamics test showed that his bladder is smaller than anticipated and it spasms early. The imaging ordered by neurosurgery did not match his bladder issues, so we are going to see them in September. We are going to discuss medication to help his bladder calm down so that he can be potty trained and not have to wear a diaper all the time. One of the side effects of these meds can be retention, meaning he won't void his bladder completely. So I will have to learn to cath him in case that ever happens. Not looking forward to that.
Neurosurgery: Jaxson was finally presented at their conference and the plan has not changed. Because imaging does not match his symptoms, they don't want to do anything yet. I'm totally fine with that. They do, however, want to monitor him closely. He will have a repeat sleep study in October, another spinal MRI and a cervical spine X-Ray done. Right now, the sleep study is scheduled after the NS appointment, but we're on the cancellation list and hopeful to get it done beforehand. Once that information is in, we'll see if anything changes.
Craniofacial: Jaxson had craniofacial clinic at the end of July. Everything looks good, except there is noticeable air leakage through his nose when he speaks. They discovered that he has a gap in the back of his throat, which is not uncommon for kids with a cleft palate or with Kabuki kids. Their solution is to have Jaxson's tonsils and adenoids removed. At least, that's the plan right now. A message was sent to ENT to have Jax come in to be assessed, but it looks like that's the direction for now.
Dermatology: I haven't posted many photos of Jax lately because he's got a nasty rash on his face. It began on May 31 and was finally diagnosed as perioroficial dermatitis by dermatology about 2 weeks ago. They put him on a 1-3 month round of antibiotics to clear it up, which of course is screwing with his Coumadin so I have to pay VERY close attention to his Vitamin K intake. Dr. Huston was nice enough to send me a list of the Vitamin K content for various foods so that I can continue making Jaxson's food. I just got that list on Friday, and I haven't had a chance to make food for him yet, so he's been on Pediasure for a couple of weeks. Drinking it, though, we're really trying not to go backwards here!
Speaking of going backwards, I just happened to think about him having surgery on his throat. I have no idea how he's going to react to eating after that. It's going to be a disaster. Maybe not, he might surprise me. This morning he told me he wanted cereal and applesauce for breakfast! We didn't have applesauce, but I made him multigrain cereal with his Pediasure so he still got what he needed AND got to eat. So it's definitely possible he could surprise me and want food, I guess I'm just not holding my breath.
I think the biggest difficulty with all of this is that Jaxson has to go in 3 days early for ANY surgery. Because his mechanical valve is the mitral valve, which is the smallest valve in the heart, cardiology will want him to come in early to be put on a heparin drip instead of bridging with lovenox shots. Honestly, I'd rather not give him the shots anyway because I hate doing it, but having a mostly healthy 6 year old in the hospital for 3 days sounds exhausting. And then there's the recovery process, which includes switching back to Coumadin from heparin. Last time we did that was right after his valve was placed, and his INR shot up to 9, which means his blood was extremely thin. It kept him in the ICU because it's so dangerous. Jean, who manages Jaxson's INR, thinks it was a dosing issue, but my sister had the same issue when she was pregnant with her daughter. Last time the INR kept Jax in the hospital an extra week, so I'm very nervous about this one. I pray Jean is right and she can control the dosing so that we don't have that issue, but it's a very real concern.
This summer has been crazy with appointments and unknowns. Right now, there's nothing I can do bu make sure Jaxson gets to his appointments so that the doctors can gather all of the information they need to make a plan. Trying not to think about the "what ifs" is hard, so I mostly try not to think about it at all, which I know is not the most healthy way to approach this. I was really hoping I could get a part-time job this fall, and it's possible that I still can once we get a plan in place, but this being in limbo is killer. We were so excited about the prospect of having additional money coming in, so hopeful that we would be able to finally get out of having to alternate which bills to pay and just be able to stay on top of things, that this is devastating.
On a final note, a petition has been started for children with rare diseases and genetic conditions. It was started by the founder of All Things Kabuki, and it is designed to get the attention of the leaders in Washington to take notice. There is only ONE Kabuki clinic in the entire US. It's in Boston. Travel arrangements are hard enough, but there are organizations out there which can help. The problem is that once you get there, no one will cover the medical part. Shouldn't our kids be allowed to visit a specialty clinic, even in another state, to ensure they are getting the proper care designed by the experts in the syndrome? There's no reason for our kids to suffer through Medicaid wanting to "exhaust all local resources" before allowing anything else to be done. It's not only a waste of everyone's time, but Medicaid is actually losing money on these kids because the specialists they are referred to aren't familiar with the syndrome, and therefore no one is comfortable making a decision because they don't want to be wrong. There are Kabuki kids who have suffered for YEARS without getting the help they need because we can't afford to take them where they deserve to go. Please, this doesn't cost you a thing, just a moment of your time. Please sign this petition so all children with rare and genetic conditions can get the care they so desperately need and deserve!
https://petitions.whitehouse.gov/petition/rare-disease-and-medically-complex-children-need-access-quality-specialty-clinics
As always, thank you for your continued prayers and support! I know very well how much more difficult this would be if we didn't have those things.
~"Life is not the way it's supposed to be, it is the way it is. It's how you cope with it that makes the difference." -unknown
Friday, August 17, 2018
Friday, June 15, 2018
When It Rains, It Pours
I decided to write a blog today to give a good update on Jaxson. May was such a busy month, I think we had a total of two week days without an appointment or event of some kind, and many days had more than one item on the agenda. I will admit, though, that through May, there wasn't much to update you on. Jax was doing great, eating well, doing fabulous in school and just being his normal, happy self. The only thing that changed in May was that Jax started changing colors almost daily. He would alternate between turning purple/blue around his lips to losing all of his color completely and his skin would be clammy even in the 80 degree sun. Which brings me to my first update:
Cardiology. Jaxson was originally scheduled for his heart echo on 7/20, but because of the symptoms he was presenting, I called and they requested he come in the next day. That always puts me on high alert, when they want to see him so soon and squeeze him into the schedule. The good news that came from this appointment is that his valve looks great! His gradient is down from his last echo, and based on his other previous results, the hope is that his last gradient (14) is a one-off since his current gradient is 8. A number of things could have caused it to appear higher than it was. So no valve replacement yet, which is a relief! But it also means we had no explanation for the color changes and such, so they told me to take his temperature when it happens and see if he's running a fever. Jax doesn't typically run a fever unless he's really sick, so I'm not anticipating that changing. Still, I'll do what they tell me haha. The second portion of the appointment did not go so well. Jaxson has some irregularities on his EKG. First, he has two superior vena cava's, the part of the heart where de-oxygenated blood flows in to the atria. This is not a defect, it is considered a normal variant, but I was unaware of it until last week. Second, he has a premature ventricular contraction (PVC), which is basically an extra heartbeat. Because he hasn't had this before, I'm not sure what it means. My sister and my grandfather both have this as well, it was benign for them. I'm just not sure if it's something that would have always been present or if it can show up at any time, so I will mention it to the doctor the next time we talk. Third, Jaxson has irregular P-waves. That's the first little bump on the EKG before the tall one. Sometimes that little bump goes up like it's supposed to and sometimes it goes down, but it's inconsistent. So we left cardiology on Friday with a 24-hour EKG monitor which I sent back this week. This should clarify some things for them and I will get a call in a couple of weeks with the results. Honestly, I can't even do research on it at this point. The heart is incredibly complicated, and researching any irregularities can be depressing and scary. I plan to wait until they call me with the results before I do any crazy research, but I do know that this could be something within the chamber. What that means, I don't know yet. I'm trying not to spend too much time considering what it could mean. Looking at his overall EKG, I can see a lot of differences between his beats and I get the feeling that something is going on, I just don't know what. And it's possible that I'm wrong, maybe all of this is benign and Jaxson just wants to make me go gray at an early age!
Sleep Study: Jaxson had a neurosurgery appointment on Monday, which I'll get to next, but first I wanted to go over this part. I had them print out his sleep study for me since complex care never called me with the results. Jaxson has reduced sleep efficiency and snores about 85% of the night. He also had 7 episodes of central sleep apnea. It sounds scary, but his oxygen saturation never dipped below 90% during the episodes, so right now we are just monitoring it. If that would change, it's possible he would require a CPAP machine, which I imagine will make getting him to sleep more difficult.
Neurosurgery: Because of the sleep apnea, the fact that he hasn't had imaging in 2 years, he's been tripping and falling a lot more lately and his extreme sensitivity to small things, we are doing a sedated full brain and spine MRI. It is not scheduled yet, but it should happen in the next month. They'll look at his Chiari to see if it has changed as that could be the cause of his sleep apnea as well as balance problems. He's having a urodynamics study on 7/2 which will tell us more about his bladder function and control since we're having so much trouble getting him potty trained. We want to make sure we aren't fighting an uphill battle with incontinence, and if he is incontinent, it could be related to his tethered cord. Thankfully, since it's just sedation and no risk of bleeding, I won't have to bridge his Coumadin with Lovenox for the procedure.
Best for last, Make-A-Wish: I got word last week that Jaxson was approved for Make-A-Wish! I am beyond excited and elated at the prospect of Jax getting to have whatever he wants. Right now, it's a toss-up if he's going to pick something Shinedown related or WWE related! We will have a Wish Discovery Meeting this fall to sign the necessary paperwork and that's when Jax will tell them what he wants. We'll be working on honing it down until then!
I think that's all for now, and I think that's definitely enough. It's so hard to tell the doctors everything that I think is going on with him when most of the time he is a pretty typical almost-6 year old. He loves to be outside and play with other kids, he constantly bangs on anything he can like he's playing the drums and now says he wants to learn to play the guitar and take singing lessons! If you saw him on the street, you'd totally call me crazy for thinking there's anything at all going on with this kid, but I guess that's why I'm his mom. I know him better than anyone, and even if the MRI shows nothing and the EKG comes back with nothing, I'll know I did the right thing because it COULD be something. I told my family, if something is going to go wrong, can't it be something we already know about? All of this new stuff with his heart is killing me. I had a feeling he'd have to have more spine surgery as he grew, but I was beginning to be hopeful that I was wrong. I still could be, and I pray that everything comes back clear, but this is Jaxson we're talking about! We've gone 30 months without him being cut open, a streak I'd like to continue. It will be a few weeks before I have the results of any of his tests, so please be patient as I am waiting too. And please, please pray.
With that, I'm done. I want to thank each and every one of you, especially if you made it this far, for being such an amazing support system for our family. We truly could not do this without the love and support of all of our family, friends, and strangers across the globe who consistently pull for our boy. We love you! <3
"Life is not the way it's supposed to be, it is the way it is. It's how you cope with it that makes the difference." ~Anonymous
Cardiology. Jaxson was originally scheduled for his heart echo on 7/20, but because of the symptoms he was presenting, I called and they requested he come in the next day. That always puts me on high alert, when they want to see him so soon and squeeze him into the schedule. The good news that came from this appointment is that his valve looks great! His gradient is down from his last echo, and based on his other previous results, the hope is that his last gradient (14) is a one-off since his current gradient is 8. A number of things could have caused it to appear higher than it was. So no valve replacement yet, which is a relief! But it also means we had no explanation for the color changes and such, so they told me to take his temperature when it happens and see if he's running a fever. Jax doesn't typically run a fever unless he's really sick, so I'm not anticipating that changing. Still, I'll do what they tell me haha. The second portion of the appointment did not go so well. Jaxson has some irregularities on his EKG. First, he has two superior vena cava's, the part of the heart where de-oxygenated blood flows in to the atria. This is not a defect, it is considered a normal variant, but I was unaware of it until last week. Second, he has a premature ventricular contraction (PVC), which is basically an extra heartbeat. Because he hasn't had this before, I'm not sure what it means. My sister and my grandfather both have this as well, it was benign for them. I'm just not sure if it's something that would have always been present or if it can show up at any time, so I will mention it to the doctor the next time we talk. Third, Jaxson has irregular P-waves. That's the first little bump on the EKG before the tall one. Sometimes that little bump goes up like it's supposed to and sometimes it goes down, but it's inconsistent. So we left cardiology on Friday with a 24-hour EKG monitor which I sent back this week. This should clarify some things for them and I will get a call in a couple of weeks with the results. Honestly, I can't even do research on it at this point. The heart is incredibly complicated, and researching any irregularities can be depressing and scary. I plan to wait until they call me with the results before I do any crazy research, but I do know that this could be something within the chamber. What that means, I don't know yet. I'm trying not to spend too much time considering what it could mean. Looking at his overall EKG, I can see a lot of differences between his beats and I get the feeling that something is going on, I just don't know what. And it's possible that I'm wrong, maybe all of this is benign and Jaxson just wants to make me go gray at an early age!
Sleep Study: Jaxson had a neurosurgery appointment on Monday, which I'll get to next, but first I wanted to go over this part. I had them print out his sleep study for me since complex care never called me with the results. Jaxson has reduced sleep efficiency and snores about 85% of the night. He also had 7 episodes of central sleep apnea. It sounds scary, but his oxygen saturation never dipped below 90% during the episodes, so right now we are just monitoring it. If that would change, it's possible he would require a CPAP machine, which I imagine will make getting him to sleep more difficult.
Neurosurgery: Because of the sleep apnea, the fact that he hasn't had imaging in 2 years, he's been tripping and falling a lot more lately and his extreme sensitivity to small things, we are doing a sedated full brain and spine MRI. It is not scheduled yet, but it should happen in the next month. They'll look at his Chiari to see if it has changed as that could be the cause of his sleep apnea as well as balance problems. He's having a urodynamics study on 7/2 which will tell us more about his bladder function and control since we're having so much trouble getting him potty trained. We want to make sure we aren't fighting an uphill battle with incontinence, and if he is incontinent, it could be related to his tethered cord. Thankfully, since it's just sedation and no risk of bleeding, I won't have to bridge his Coumadin with Lovenox for the procedure.
Best for last, Make-A-Wish: I got word last week that Jaxson was approved for Make-A-Wish! I am beyond excited and elated at the prospect of Jax getting to have whatever he wants. Right now, it's a toss-up if he's going to pick something Shinedown related or WWE related! We will have a Wish Discovery Meeting this fall to sign the necessary paperwork and that's when Jax will tell them what he wants. We'll be working on honing it down until then!
I think that's all for now, and I think that's definitely enough. It's so hard to tell the doctors everything that I think is going on with him when most of the time he is a pretty typical almost-6 year old. He loves to be outside and play with other kids, he constantly bangs on anything he can like he's playing the drums and now says he wants to learn to play the guitar and take singing lessons! If you saw him on the street, you'd totally call me crazy for thinking there's anything at all going on with this kid, but I guess that's why I'm his mom. I know him better than anyone, and even if the MRI shows nothing and the EKG comes back with nothing, I'll know I did the right thing because it COULD be something. I told my family, if something is going to go wrong, can't it be something we already know about? All of this new stuff with his heart is killing me. I had a feeling he'd have to have more spine surgery as he grew, but I was beginning to be hopeful that I was wrong. I still could be, and I pray that everything comes back clear, but this is Jaxson we're talking about! We've gone 30 months without him being cut open, a streak I'd like to continue. It will be a few weeks before I have the results of any of his tests, so please be patient as I am waiting too. And please, please pray.
With that, I'm done. I want to thank each and every one of you, especially if you made it this far, for being such an amazing support system for our family. We truly could not do this without the love and support of all of our family, friends, and strangers across the globe who consistently pull for our boy. We love you! <3
"Life is not the way it's supposed to be, it is the way it is. It's how you cope with it that makes the difference." ~Anonymous
Tuesday, February 20, 2018
When Did Life Get So Busy?
It's been a little over a month since my last blog post for Jaxson. Normally, it doesn't bother me because a lot of his updates go on his Facebook page. But I think it's been a week or more since I even posted there! It's not for lack of things to post, either, there's plenty of Jaxson updates. But suddenly, life has gotten VERY busy! So, here's what you've been missing :)
If you didn't see the heart update from January, Jaxson's gradient on his mitral valve is at 13. Severe is at 10, so he's already past that. However, because he's asymptomatic, nothing is being scheduled at this time. I kindly wrote to his cardiologist to remind her that when we initially found Jaxson's mitral stenosis, he wasn't having symptoms. We only found it because he was re-admitted 2 days after he was discharged with pneumonia and couldn't kick it, which is when I requested an echo. Jaxson is so pale, color changes are not the best indicator of his heart unless he turns seriously blue. He's never done that, except in extreme cases of illness, so I have to look at other things. Does he get short of breath when he exercises or plays? Sometimes, but it's minimal. He sweats like a grown man, but apparently no one thinks it's due to something in their respective specialty. So, for now, we are scheduled to go back in July for another echo to see where he is.
Earlier in February, Jaxson saw complex care and the sleep doctor. He's in the 10th percentile for weight, but still way down on the height chart. From when we saw the sleep doctor in June until February, he grew 2 inches and gained 10 pounds! This, I believe, is largely in part to the feeding therapy we've added. Most days he gets extra calories, unless I can get him to take enough food to eliminate a bottle of Pediasure. So this is good news! I don't expect him to hit the charts for height, maybe ever, but that he's growing so much is definitely a positive sign! According to the sleep doctor, Jaxson's ferritin levels are still well below where they need to be. In June, he was at a 10. In January he was at 19. They want him at 50 or more! But I discovered that he isn't supposed to get his iron supplement with milk products, which I didn't know before, so I've adjusted when I give it to him. Since he's eating more by mouth, I just make sure he has a meal without any milk products and that's when he gets it. I'm hopeful we will see a bigger improvement in April/May when we recheck it.
Speaking of eating, holy cow! We have been uber-busy the last few weeks so getting meals in has been difficult, but we make it happen at least once a day. He's taking 4 ounces of puree and 2 ounces of Pediasure per sitting! If he doesn't get the Pediasure, he will take 5-6 ounces of puree. You guys, he is absolutely killing it! He still struggles with mixed textures, and if he takes too big of a bite of something more solid than a puree, he will throw up. So I'm pretty sure there's some very weak swallowing muscles and the coordination between chewing and swallowing can be hard for him. It's so interesting to do this with him, because for most of us, eating is like breathing. It's just something we know how to do and we don't think about all of the things that go into actually taking a bite. Jaw muscles need to work, your tongue is a muscle that requires a ton of coordination, and there are muscles along your throat and esophagus that have to work as well. There are a lot of moving parts to coordinate, and when you've been tube-fed your whole life plus have hypotonia (low muscle tone), eating is a big challenge. Seeing the progress he's made in just a few short months has been nothing short of amazing and I couldn't be more proud of how much he has accomplished! It gives me hope that one day he will be able to take all of his nutrition by mouth. Even if we leave the tube for meds, I don't care. As long as he's eating! I will say, though, that he does still prefer his tube. So while he's made a ton of progress, there is still a long way to go before it's gone.
Also in February, Jaxson saw audiology and the dentist. All good news at both appointments! Jaxson actually hears better than we initially thought, and this is something that's relatively normal for his age. He can actually participate in the games they play to test his hearing, which makes it so much easier for the audiologist to determine where he is. He can hear 2 out of the 4 frequencies in his right ear, so we've opted to trial that ear WITHOUT a hearing aid! He still needs the one for his left ear, and his hearing loss is sensorineural so it will never get better, but if he can get by with one then we'll take it! We can always add it back if we think he's not doing well enough, but the idea is to not damage what he CAN hear by using a hearing aid. So far, so good! At dental, Jaxson was a MODEL patient! I was in complete shock, I thought for sure I'd have to sit right next to him and hold his hands down. But the hygenist was fantastic, letting Jaxson feel everything on his hands before she put anything in his mouth. And even when he gagged (as he does every time I brush his teeth), he stayed put and didn't fight her. I attribute a lot of that to feeding therapy, because he gags a lot and we just keep going because he has to learn that that isn't a good reason to stop eating. Even if he throws up from gagging, I usually get him to eat at least a few more bites so he knows that he still has to do it. Anyway, he literally laid on the bed by himself while I sat on a chair a few feet away. No crying, no complaining, no biting, no nothing! And at the same time, Jeffrey went to have the seals on his teeth checked, but he had to go alone because I needed to stay with Jax. Jeffrey was amazing as well! He went, all by himself (a huge feat for him), with the dentist and was back before Jax was done. I was a super-proud mom that day!
This morning, Jax had PT and this afternoon he has OT followed by picking up Jeffrey and taking him to an appointment at 4. We got Jax set back up for bi-weekly OT, so no more flex scheduling thank goodness! Now, for school, Jax goes Monday, Wednesday and Thursday afternoons and every other Tuesday afternoon. I hope to add Friday next month to help him get prepared for going all day, every day next year.
Besides appointments, I've been running around to my own appointments, plus chaperoning events with Jeffrey's school and doing some freelance work for clients at home. When I'm home, that is! Last week, aside from Friday, I think I was home for maybe 5 hours in total during the day. It's just been crazy! Over the weekend, Jeffrey had a basketball tournament and Jaxson had the Conquer The Runway Heart Hero Fashion Show, which was so fun and the kids were all so cute! I will make an album on FB and post the video of Jaxson strutting his stuff. It was a really busy weekend, but fun!
I think that's it for now! OT this afternoon at 2, feeding therapy and INR check tomorrow, speech on Thursday and this weekend we are going out of town to visit family. At some point, I am sure I will have five minutes to sit down, but if not, I hope you all have a fabulous week! We are going to enjoy this warm up while it lasts, because we're in Ohio where the weather is schizophrenic and it can snow in April. But 70 degrees in February? We'll take it!
As always, thank you for taking the time to read this and follow Jaxson's journey with Kabuki syndrome. It's a never-ending battle with one thing or another, but it was so nice to write a positive blog about Jaxson. Have a blessed day!
If you didn't see the heart update from January, Jaxson's gradient on his mitral valve is at 13. Severe is at 10, so he's already past that. However, because he's asymptomatic, nothing is being scheduled at this time. I kindly wrote to his cardiologist to remind her that when we initially found Jaxson's mitral stenosis, he wasn't having symptoms. We only found it because he was re-admitted 2 days after he was discharged with pneumonia and couldn't kick it, which is when I requested an echo. Jaxson is so pale, color changes are not the best indicator of his heart unless he turns seriously blue. He's never done that, except in extreme cases of illness, so I have to look at other things. Does he get short of breath when he exercises or plays? Sometimes, but it's minimal. He sweats like a grown man, but apparently no one thinks it's due to something in their respective specialty. So, for now, we are scheduled to go back in July for another echo to see where he is.
Earlier in February, Jaxson saw complex care and the sleep doctor. He's in the 10th percentile for weight, but still way down on the height chart. From when we saw the sleep doctor in June until February, he grew 2 inches and gained 10 pounds! This, I believe, is largely in part to the feeding therapy we've added. Most days he gets extra calories, unless I can get him to take enough food to eliminate a bottle of Pediasure. So this is good news! I don't expect him to hit the charts for height, maybe ever, but that he's growing so much is definitely a positive sign! According to the sleep doctor, Jaxson's ferritin levels are still well below where they need to be. In June, he was at a 10. In January he was at 19. They want him at 50 or more! But I discovered that he isn't supposed to get his iron supplement with milk products, which I didn't know before, so I've adjusted when I give it to him. Since he's eating more by mouth, I just make sure he has a meal without any milk products and that's when he gets it. I'm hopeful we will see a bigger improvement in April/May when we recheck it.
Speaking of eating, holy cow! We have been uber-busy the last few weeks so getting meals in has been difficult, but we make it happen at least once a day. He's taking 4 ounces of puree and 2 ounces of Pediasure per sitting! If he doesn't get the Pediasure, he will take 5-6 ounces of puree. You guys, he is absolutely killing it! He still struggles with mixed textures, and if he takes too big of a bite of something more solid than a puree, he will throw up. So I'm pretty sure there's some very weak swallowing muscles and the coordination between chewing and swallowing can be hard for him. It's so interesting to do this with him, because for most of us, eating is like breathing. It's just something we know how to do and we don't think about all of the things that go into actually taking a bite. Jaw muscles need to work, your tongue is a muscle that requires a ton of coordination, and there are muscles along your throat and esophagus that have to work as well. There are a lot of moving parts to coordinate, and when you've been tube-fed your whole life plus have hypotonia (low muscle tone), eating is a big challenge. Seeing the progress he's made in just a few short months has been nothing short of amazing and I couldn't be more proud of how much he has accomplished! It gives me hope that one day he will be able to take all of his nutrition by mouth. Even if we leave the tube for meds, I don't care. As long as he's eating! I will say, though, that he does still prefer his tube. So while he's made a ton of progress, there is still a long way to go before it's gone.
Also in February, Jaxson saw audiology and the dentist. All good news at both appointments! Jaxson actually hears better than we initially thought, and this is something that's relatively normal for his age. He can actually participate in the games they play to test his hearing, which makes it so much easier for the audiologist to determine where he is. He can hear 2 out of the 4 frequencies in his right ear, so we've opted to trial that ear WITHOUT a hearing aid! He still needs the one for his left ear, and his hearing loss is sensorineural so it will never get better, but if he can get by with one then we'll take it! We can always add it back if we think he's not doing well enough, but the idea is to not damage what he CAN hear by using a hearing aid. So far, so good! At dental, Jaxson was a MODEL patient! I was in complete shock, I thought for sure I'd have to sit right next to him and hold his hands down. But the hygenist was fantastic, letting Jaxson feel everything on his hands before she put anything in his mouth. And even when he gagged (as he does every time I brush his teeth), he stayed put and didn't fight her. I attribute a lot of that to feeding therapy, because he gags a lot and we just keep going because he has to learn that that isn't a good reason to stop eating. Even if he throws up from gagging, I usually get him to eat at least a few more bites so he knows that he still has to do it. Anyway, he literally laid on the bed by himself while I sat on a chair a few feet away. No crying, no complaining, no biting, no nothing! And at the same time, Jeffrey went to have the seals on his teeth checked, but he had to go alone because I needed to stay with Jax. Jeffrey was amazing as well! He went, all by himself (a huge feat for him), with the dentist and was back before Jax was done. I was a super-proud mom that day!
This morning, Jax had PT and this afternoon he has OT followed by picking up Jeffrey and taking him to an appointment at 4. We got Jax set back up for bi-weekly OT, so no more flex scheduling thank goodness! Now, for school, Jax goes Monday, Wednesday and Thursday afternoons and every other Tuesday afternoon. I hope to add Friday next month to help him get prepared for going all day, every day next year.
Besides appointments, I've been running around to my own appointments, plus chaperoning events with Jeffrey's school and doing some freelance work for clients at home. When I'm home, that is! Last week, aside from Friday, I think I was home for maybe 5 hours in total during the day. It's just been crazy! Over the weekend, Jeffrey had a basketball tournament and Jaxson had the Conquer The Runway Heart Hero Fashion Show, which was so fun and the kids were all so cute! I will make an album on FB and post the video of Jaxson strutting his stuff. It was a really busy weekend, but fun!
I think that's it for now! OT this afternoon at 2, feeding therapy and INR check tomorrow, speech on Thursday and this weekend we are going out of town to visit family. At some point, I am sure I will have five minutes to sit down, but if not, I hope you all have a fabulous week! We are going to enjoy this warm up while it lasts, because we're in Ohio where the weather is schizophrenic and it can snow in April. But 70 degrees in February? We'll take it!
As always, thank you for taking the time to read this and follow Jaxson's journey with Kabuki syndrome. It's a never-ending battle with one thing or another, but it was so nice to write a positive blog about Jaxson. Have a blessed day!
Wednesday, January 17, 2018
Jaxson's First "Normal" Holiday Season
Hello friends and family! It has been some time since I updated Facebook with what has been going on with Jaxson, and for that I apologize! Because there is a bit to update, I decided a blog would serve better than a super-long FB post. So here goes!
This holiday season held a few firsts for Jaxson! The first thing to tell you about is that Jaxson got to leave the house to see Santa this year! At 5.5, Jaxson has been too sick in previous years to take him out of the house. This year, with the recognition of his compromised immune system, Jax got a beastier pneumonia vaccine. The Pneumovax shot gave Jaxson nearly a four-fold increase on his pneumonia titers, meaning he has antibodies to help fight those viruses. He also got a boost from his flu shot for influenza A, and actually has flu antibodies this year! So we felt comfortable taking him out in public, and both boys had such fun! We went to a local mall that's likely on it's way to closing, and there were very few people there so we only had to wait for one customer before it was our turn. The boys talked with Santa and the photographer snapped pictures for about 10 minutes. We got 12 shots in all, but here are a few of my favorites!
The following Monday is when the boys got to go to Nationwide Children's to meet some of the Ohio State Buckeyes football players along with coach Meyer. That was a blast, I've never seen Jeffrey so excited for something! They had a blast there as well.
Christmas was amazing this year! We had some elves send some things, and after we opened gifts at home, we went to my parents for lunch and more gifts. It was a really nice day, no one argued much and we were able to relax and enjoy the day.
Then the weather kicked in. Cold wind chills, down to -25 at times, followed by a warm up with snowfall. Then it warmed up and melted, and now we've got another 6" on the ground here in Ohio. Another first for Jaxson came, because he's been so stable and done so well, Jaxson got to go outside and play in the snow for the first time ever! He wasn't too interested in touching it or getting down in the snow to play, but he totally enjoyed running around outside with his brother. Jeffrey likes to make snowballs and throw them at the tree, which Jaxson got a huge kick out of. It only lasted about 20 minutes because it was still pretty cold that day, but that he was able to even get out there is a huge blessing!
This last bit of information is fresh. Jaxson had an IEP review last week, and he's made so much progress in PT and speech that they almost discontinued his school therapies! They didn't because they want him to continue to build his foundation for kindergarten next year, but his time for both has been decreased. This speaks volumes to the amount of progress Jaxson has made over the last year! He's meeting PT and speech goals left and right. He is even meeting goals in OT, but that's his biggest delay so that's not going anywhere soon. But I am so pleased with the progress he has made, and we set everything up for him to stay at the same school next year. They have a few KG rooms, and they do everything on an inclusion basis. So Jaxson will spend most of his time in a regular classroom, but when they split into their stations, he can be pulled for therapies. I can't wait, I know he's going to do great!
Final piece of info is that Jax had his heart echo yesterday. His gradient rose from 10 to 13, and while I anticipated them telling us it was time for surgery, they aren't doing it yet. I'm not sure how comfortable I am with waiting 6 months for another echo, but if he only rose 3 points on the scale in this 6 months, then it should be similar over the next 6 months as long as his growth rate remains the same. We are watching him closely because he likes to lose his color and he's been complaining of being tired a lot, but it's also not stopping him from doing anything. Dr. Bowman says she doesn't think the fatigue is due to his heart, so I'll bring it up at the sleep clinic next month, and if no answers there then it will be a call to neurosurgery for head scans. But not jumping ahead too fast, right now Jaxson is happy and healthy, and that's how we like it!
So that's the update for Jax! Jeffrey has been going to behavioral health for the last couple of months to address his ADHD issues, plus he was diagnosed with generalized anxiety which didn't surprise me a bit. He's doing so well in school this year and he really likes his therapist, so I'm hopeful that he will get a handle on things and learn some coping skills. He also started playing basketball with the Junior Cavs League, which was nice enough to allow him to join even though the season already started. He had his first games on Sunday, where he didn't play much but enjoyed meeting his team, and his first practice is this Friday.
Meanwhile, I've started a freelancing business utilizing my 15 years of experience to assist businesses with web content, social media accounts and posting, and SEO management to boost traffic and increase sales. Plus I'm working on rebuilding the All Things Kabuki website with our new host, and I have high hopes that it will be far better than it was before!
Jayson is by far the rock that keeps this family together. He quietly goes to work every day, busts his butt to get his job done, then comes home and helps out around the house and plays with the boys. He works on our vehicles himself, fixes every little thing that goes wrong in this house, and really helps me stay on top of what needs done. He's a little cranky that he had to get glasses this year, but he's getting used to it and when he has them on, he no longer looks like he's 15 haha!
Overall, things at the Burks household are going well. There's always struggle, especially when mom (me) slides into depression or has anxiety rising up, but overall we're all doing well! I couldn't be happier to report such amazing things in our lives.
~"Life is not the way it's supposed to be, it is the way it is. It's how you cope with it that makes the difference." (Anonymous)
This holiday season held a few firsts for Jaxson! The first thing to tell you about is that Jaxson got to leave the house to see Santa this year! At 5.5, Jaxson has been too sick in previous years to take him out of the house. This year, with the recognition of his compromised immune system, Jax got a beastier pneumonia vaccine. The Pneumovax shot gave Jaxson nearly a four-fold increase on his pneumonia titers, meaning he has antibodies to help fight those viruses. He also got a boost from his flu shot for influenza A, and actually has flu antibodies this year! So we felt comfortable taking him out in public, and both boys had such fun! We went to a local mall that's likely on it's way to closing, and there were very few people there so we only had to wait for one customer before it was our turn. The boys talked with Santa and the photographer snapped pictures for about 10 minutes. We got 12 shots in all, but here are a few of my favorites!
The following Monday is when the boys got to go to Nationwide Children's to meet some of the Ohio State Buckeyes football players along with coach Meyer. That was a blast, I've never seen Jeffrey so excited for something! They had a blast there as well.
Christmas was amazing this year! We had some elves send some things, and after we opened gifts at home, we went to my parents for lunch and more gifts. It was a really nice day, no one argued much and we were able to relax and enjoy the day.
Then the weather kicked in. Cold wind chills, down to -25 at times, followed by a warm up with snowfall. Then it warmed up and melted, and now we've got another 6" on the ground here in Ohio. Another first for Jaxson came, because he's been so stable and done so well, Jaxson got to go outside and play in the snow for the first time ever! He wasn't too interested in touching it or getting down in the snow to play, but he totally enjoyed running around outside with his brother. Jeffrey likes to make snowballs and throw them at the tree, which Jaxson got a huge kick out of. It only lasted about 20 minutes because it was still pretty cold that day, but that he was able to even get out there is a huge blessing!
This last bit of information is fresh. Jaxson had an IEP review last week, and he's made so much progress in PT and speech that they almost discontinued his school therapies! They didn't because they want him to continue to build his foundation for kindergarten next year, but his time for both has been decreased. This speaks volumes to the amount of progress Jaxson has made over the last year! He's meeting PT and speech goals left and right. He is even meeting goals in OT, but that's his biggest delay so that's not going anywhere soon. But I am so pleased with the progress he has made, and we set everything up for him to stay at the same school next year. They have a few KG rooms, and they do everything on an inclusion basis. So Jaxson will spend most of his time in a regular classroom, but when they split into their stations, he can be pulled for therapies. I can't wait, I know he's going to do great!
Final piece of info is that Jax had his heart echo yesterday. His gradient rose from 10 to 13, and while I anticipated them telling us it was time for surgery, they aren't doing it yet. I'm not sure how comfortable I am with waiting 6 months for another echo, but if he only rose 3 points on the scale in this 6 months, then it should be similar over the next 6 months as long as his growth rate remains the same. We are watching him closely because he likes to lose his color and he's been complaining of being tired a lot, but it's also not stopping him from doing anything. Dr. Bowman says she doesn't think the fatigue is due to his heart, so I'll bring it up at the sleep clinic next month, and if no answers there then it will be a call to neurosurgery for head scans. But not jumping ahead too fast, right now Jaxson is happy and healthy, and that's how we like it!
So that's the update for Jax! Jeffrey has been going to behavioral health for the last couple of months to address his ADHD issues, plus he was diagnosed with generalized anxiety which didn't surprise me a bit. He's doing so well in school this year and he really likes his therapist, so I'm hopeful that he will get a handle on things and learn some coping skills. He also started playing basketball with the Junior Cavs League, which was nice enough to allow him to join even though the season already started. He had his first games on Sunday, where he didn't play much but enjoyed meeting his team, and his first practice is this Friday.
Meanwhile, I've started a freelancing business utilizing my 15 years of experience to assist businesses with web content, social media accounts and posting, and SEO management to boost traffic and increase sales. Plus I'm working on rebuilding the All Things Kabuki website with our new host, and I have high hopes that it will be far better than it was before!
Jayson is by far the rock that keeps this family together. He quietly goes to work every day, busts his butt to get his job done, then comes home and helps out around the house and plays with the boys. He works on our vehicles himself, fixes every little thing that goes wrong in this house, and really helps me stay on top of what needs done. He's a little cranky that he had to get glasses this year, but he's getting used to it and when he has them on, he no longer looks like he's 15 haha!
Overall, things at the Burks household are going well. There's always struggle, especially when mom (me) slides into depression or has anxiety rising up, but overall we're all doing well! I couldn't be happier to report such amazing things in our lives.
~"Life is not the way it's supposed to be, it is the way it is. It's how you cope with it that makes the difference." (Anonymous)
Monday, October 23, 2017
10/23/17: Kabuki Syndrome Awareness Day
Today is world wide Kabuki Syndrome Awareness Day! I know my Facebook and Instagram feeds have been green all month for Kabuki syndrome, but today I know I will see even more! Seeing everyone wearing green and supporting this rare disease warms my heart at the love and support we have in our community. A lot of people take the day to share their story with Kabuki, and I figured, why not? So, brace yourselves, Jaxson's story is complex, but worth reading every word!
When I was pregnant with Jaxson, there were early signs that there could be a problem. His quad screen came back at high risk for Trisomy 18, which would have been a fatal diagnosis. Extra ultrasounds were ordered, but there were no physical signs of T18 other than a heart defect that may or may not be related. We discovered this at 18 weeks, and I was told that if we wanted to terminate, I had until 20 weeks in Ohio. That was never an option. We didn't do an amniocentesis because I was concerned about our already fragile baby, and the new blood test they have wasn't covered by insurance, so we opted to wait and see. Later in the pregnancy, Jaxson wasn't growing. Or so they thought because his head was measuring small, and he wasn't moving around as much as Jeffrey had. Non-stress tests were done three times a week for the last 4 weeks of my pregnancy, until Jaxson decided he wanted to come early. That was a nightmare since we already knew he needed to go straight to the NICU at Nationwide Children's, and there were literally zero NICU beds anywhere in the city. If they couldn't stop me on 7/1/12, I would have been transported to Cincinnati to deliver. Thankfully, the labor was slowed down enough to be considered stopped and I was sent home. Three days later, we were back. This time I was already 4cm dilated and there was no stopping him. I arrived at the hospital at 1:30pm and Jaxson was delivered by C-section at 3:51pm on 7/4/12. I have never seen a hospital move so fast, at least not at that point.
They didn't raise Jaxson over the sheet for me to see him, but took him straight to the table for a once over. It felt like FOREVER before I finally heard his little cry. I sent my husband over to see him, even though he didn't want to leave my side. The neonatologist did exactly as I instructed him when we met the week before, he gave me the facts. As he told me the few things he saw off the bat, I just nodded with tears streaming down my face. I couldn't move from the drugs, so one of the nurses wiped my tears. My husband returned, but when I went to recovery, I instructed him to see to our family that was waiting. I still hadn't seen my baby. When I finally got back to my room, everyone was waiting. When they brought Jaxson by before he was transported, he was in an incubator and I was not allowed to hold him. I was so numb, I barely touched him. They gave me photos and took him away. I sent Jayson and my dad right behind them. I was stuck at the hospital for 2 days, dying inside knowing that no one was holding him, no one could comfort him the way I could. I was allowed to leave a day early because it was my second c-section and I proved that I was ready by moving around. They weren't going to keep me there any longer! My best friend's mom stayed with me and drove me straight to Jaxson. I still hadn't been home, hell, I hadn't seen Jeffrey in 2 days either.
If you've ever been in a NICU, you know how overwhelming it is to walk into the open bay. Machines beeping everywhere, lines in veins, lines in arteries, stickers on the heads and chests of babies, cannulas and respiratory devices, NG tubes and feeding pumps. Syringes, isolation clothing, incubators, tiny little babies literally on life support. It's definitely a shock to try and take it in, but the only thing I remember from that first visit is being able to see my baby, and then being told that I could hold him. They did not let anyone else pick him up until I could! The nurse helped me adjust all of the wires and I just sat there with him for hours. Until I had to leave, I did have another child after all. Jayson and I took turns going to see Jaxson over the next 6 weeks. We learned all of the things they found that would cause him problems in the future, including that he would need several major surgeries. We were hooked up with social workers who were amazing in handing over resources and helping us get things ready for home. But those first six weeks, those were so hard on everyone.
Fast forward a bit, Jaxson has regular PT, OT and speech therapies, regular specialist visits and has undergone 9 surgeries. He's 2.5 now, and after years of research and tests and countless doctors shrugging their shoulders, Jaxson received his diagnosis of Kabuki Syndrome. Excuse me, what was that? No, the doctor didn't sneeze. Kabuki syndrome is a rare genetic disorder, he did not inherit it from us, but it was a new mutation in his genes. At this moment, we should have been sent to immunology given the issues Kabuki can cause, but we weren't. And I didn't have time to even figure out that we needed to go, because around this same time, Jaxson contracted aspiration pneumonia after a routine MRI. Upon admission, one of the drs recommended that we get a heart echo because he hadn't had one for awhile, but it was the weekend and we figured we could do it outpatient. Two days after discharge, we were right back, the pneumonia wasn't going away. I requested the echo and that is when the extent of Jaxson's heart issue was discovered. He had severe mitral stenosis, so bad that they scheduled and did the surgery in 3 months. It almost didn't happen then because he had such a hard time fighting the pneumonia and it could have been dangerous, but I convinced the doctors (by threatening to take him elsewhere) to get it done. His first open heart surgery was in June 2015. We were told after the surgery that he would need a mechanical valve, but the doctor was hoping to give him more time to grow first. But Jaxson, as usual, had other ideas, and by September his numbers were back up. In December 2015, a cath was attempted, but caused a severe leak (which we knew was a risk), leading to emergency open-heart surgery the following day to have the mechanical valve placed. That surgery was at least seven agonizing hours, but I knew they had to be careful because Jaxson had coded in the CTICU twice that morning. Finally, the surgeon came out and let us know it was a success. Jaxson would be kept sedated and paralyzed for awhile to let his body recover, and he spent three weeks in the hospital that time. He made it home three days before Christmas.
It's been almost two years since then, and Jaxson has managed to mostly stay away from the hospital. Last year, though, he had the flue twice, RSV and pneumonia in a six month span, causing me to seek out an immunologist. Since we hadn't seen one yet, I opted to see a doctor in Cincinnati who specializes in Kabuki. Earlier this year, we learned that Jaxson indeed has a compromised immune system. He does not make any antibodies for the flu, so the flu shot is essential for his winter survival, and he only makes antibodies for 4 of the pneumonia viruses. He received the stronger pneumonia vaccine almost 2 weeks ago and we will have his numbers re-checked when we visit the doctor next month. But for now, Jaxson is seeing his regular therapists and specialists, and there are no surgeries planned. The last two years have seen Jaxson grow, and I mean actually grow to where he needs new clothes for once! The years have improved his speech one hundredfold, his fine and gross motor skills are catching up and he has emerged with his own vibrant personality that infects everyone he meets! He's happy, he loves life and he is a true joy. I would not change him or anything about him!
Some of you haven't followed Jaxson from the beginning, so I want to lay out his surgeries for you:
Feeding tube placement at 5 weeks
Craniovault Reconstruction (skull) at 4 months
Ear tubes placed
Tethered cord release at 8 months
Distraction surgery 1 (skull) 15 months
Distraction surgery 2 at 18 months
Cleft palate repair at 18 months (surgeries were not at the same time)
Ear tubes placed
Endoscopic Third Ventriculostomy (brain surgery) at 25 months
Open heart surgery at 35 months
Heart cath at 29 months
Mechanical Valve placement at 29 months
Keep in mind, that in between all of these, Jaxson likely spent some time inpatient with some sort of virus or illness. Until his heart was fixed, he couldn't fight anything. Now, while he still has a compromised immune system, he is bigger and has been able to fight off colds with a little extra help from breathing treatments. But if that's what it takes to keep him healthy, then that's exactly what we will do!
Kabuki Syndrome is not a fatal diagnosis, but there are issues it causes that can lead to a premature death. So far, Jaxson is living life as a happy 5 year old and I believe that he will continue to do so for a long time! We don't let possibilities dictate us or dictate what Jaxson is and isn't allowed to do. Sure, we have to be careful, he's going to be on a blood thinner for the rest of his life, but that doesn't mean that life stops or that we have to keep him in a bubble. No, he's a five year old boy who loves to play and be silly and dance and jump and run around like a chicken. He's so perfect, I couldn't imagine trying to keep him bottled up away from the rest of the world! The world needs his smile, it needs his laughter and it needs him to remind us that life is too short. Time to enjoy it while we can!
~"Life is not the way it's supposed to be, it is the way it is. It's how you cope with it that makes the different." -Unknown
When I was pregnant with Jaxson, there were early signs that there could be a problem. His quad screen came back at high risk for Trisomy 18, which would have been a fatal diagnosis. Extra ultrasounds were ordered, but there were no physical signs of T18 other than a heart defect that may or may not be related. We discovered this at 18 weeks, and I was told that if we wanted to terminate, I had until 20 weeks in Ohio. That was never an option. We didn't do an amniocentesis because I was concerned about our already fragile baby, and the new blood test they have wasn't covered by insurance, so we opted to wait and see. Later in the pregnancy, Jaxson wasn't growing. Or so they thought because his head was measuring small, and he wasn't moving around as much as Jeffrey had. Non-stress tests were done three times a week for the last 4 weeks of my pregnancy, until Jaxson decided he wanted to come early. That was a nightmare since we already knew he needed to go straight to the NICU at Nationwide Children's, and there were literally zero NICU beds anywhere in the city. If they couldn't stop me on 7/1/12, I would have been transported to Cincinnati to deliver. Thankfully, the labor was slowed down enough to be considered stopped and I was sent home. Three days later, we were back. This time I was already 4cm dilated and there was no stopping him. I arrived at the hospital at 1:30pm and Jaxson was delivered by C-section at 3:51pm on 7/4/12. I have never seen a hospital move so fast, at least not at that point.
They didn't raise Jaxson over the sheet for me to see him, but took him straight to the table for a once over. It felt like FOREVER before I finally heard his little cry. I sent my husband over to see him, even though he didn't want to leave my side. The neonatologist did exactly as I instructed him when we met the week before, he gave me the facts. As he told me the few things he saw off the bat, I just nodded with tears streaming down my face. I couldn't move from the drugs, so one of the nurses wiped my tears. My husband returned, but when I went to recovery, I instructed him to see to our family that was waiting. I still hadn't seen my baby. When I finally got back to my room, everyone was waiting. When they brought Jaxson by before he was transported, he was in an incubator and I was not allowed to hold him. I was so numb, I barely touched him. They gave me photos and took him away. I sent Jayson and my dad right behind them. I was stuck at the hospital for 2 days, dying inside knowing that no one was holding him, no one could comfort him the way I could. I was allowed to leave a day early because it was my second c-section and I proved that I was ready by moving around. They weren't going to keep me there any longer! My best friend's mom stayed with me and drove me straight to Jaxson. I still hadn't been home, hell, I hadn't seen Jeffrey in 2 days either.
If you've ever been in a NICU, you know how overwhelming it is to walk into the open bay. Machines beeping everywhere, lines in veins, lines in arteries, stickers on the heads and chests of babies, cannulas and respiratory devices, NG tubes and feeding pumps. Syringes, isolation clothing, incubators, tiny little babies literally on life support. It's definitely a shock to try and take it in, but the only thing I remember from that first visit is being able to see my baby, and then being told that I could hold him. They did not let anyone else pick him up until I could! The nurse helped me adjust all of the wires and I just sat there with him for hours. Until I had to leave, I did have another child after all. Jayson and I took turns going to see Jaxson over the next 6 weeks. We learned all of the things they found that would cause him problems in the future, including that he would need several major surgeries. We were hooked up with social workers who were amazing in handing over resources and helping us get things ready for home. But those first six weeks, those were so hard on everyone.
Fast forward a bit, Jaxson has regular PT, OT and speech therapies, regular specialist visits and has undergone 9 surgeries. He's 2.5 now, and after years of research and tests and countless doctors shrugging their shoulders, Jaxson received his diagnosis of Kabuki Syndrome. Excuse me, what was that? No, the doctor didn't sneeze. Kabuki syndrome is a rare genetic disorder, he did not inherit it from us, but it was a new mutation in his genes. At this moment, we should have been sent to immunology given the issues Kabuki can cause, but we weren't. And I didn't have time to even figure out that we needed to go, because around this same time, Jaxson contracted aspiration pneumonia after a routine MRI. Upon admission, one of the drs recommended that we get a heart echo because he hadn't had one for awhile, but it was the weekend and we figured we could do it outpatient. Two days after discharge, we were right back, the pneumonia wasn't going away. I requested the echo and that is when the extent of Jaxson's heart issue was discovered. He had severe mitral stenosis, so bad that they scheduled and did the surgery in 3 months. It almost didn't happen then because he had such a hard time fighting the pneumonia and it could have been dangerous, but I convinced the doctors (by threatening to take him elsewhere) to get it done. His first open heart surgery was in June 2015. We were told after the surgery that he would need a mechanical valve, but the doctor was hoping to give him more time to grow first. But Jaxson, as usual, had other ideas, and by September his numbers were back up. In December 2015, a cath was attempted, but caused a severe leak (which we knew was a risk), leading to emergency open-heart surgery the following day to have the mechanical valve placed. That surgery was at least seven agonizing hours, but I knew they had to be careful because Jaxson had coded in the CTICU twice that morning. Finally, the surgeon came out and let us know it was a success. Jaxson would be kept sedated and paralyzed for awhile to let his body recover, and he spent three weeks in the hospital that time. He made it home three days before Christmas.
It's been almost two years since then, and Jaxson has managed to mostly stay away from the hospital. Last year, though, he had the flue twice, RSV and pneumonia in a six month span, causing me to seek out an immunologist. Since we hadn't seen one yet, I opted to see a doctor in Cincinnati who specializes in Kabuki. Earlier this year, we learned that Jaxson indeed has a compromised immune system. He does not make any antibodies for the flu, so the flu shot is essential for his winter survival, and he only makes antibodies for 4 of the pneumonia viruses. He received the stronger pneumonia vaccine almost 2 weeks ago and we will have his numbers re-checked when we visit the doctor next month. But for now, Jaxson is seeing his regular therapists and specialists, and there are no surgeries planned. The last two years have seen Jaxson grow, and I mean actually grow to where he needs new clothes for once! The years have improved his speech one hundredfold, his fine and gross motor skills are catching up and he has emerged with his own vibrant personality that infects everyone he meets! He's happy, he loves life and he is a true joy. I would not change him or anything about him!
Some of you haven't followed Jaxson from the beginning, so I want to lay out his surgeries for you:
Feeding tube placement at 5 weeks
Craniovault Reconstruction (skull) at 4 months
Ear tubes placed
Tethered cord release at 8 months
Distraction surgery 1 (skull) 15 months
Distraction surgery 2 at 18 months
Cleft palate repair at 18 months (surgeries were not at the same time)
Ear tubes placed
Endoscopic Third Ventriculostomy (brain surgery) at 25 months
Open heart surgery at 35 months
Heart cath at 29 months
Mechanical Valve placement at 29 months
Keep in mind, that in between all of these, Jaxson likely spent some time inpatient with some sort of virus or illness. Until his heart was fixed, he couldn't fight anything. Now, while he still has a compromised immune system, he is bigger and has been able to fight off colds with a little extra help from breathing treatments. But if that's what it takes to keep him healthy, then that's exactly what we will do!
Kabuki Syndrome is not a fatal diagnosis, but there are issues it causes that can lead to a premature death. So far, Jaxson is living life as a happy 5 year old and I believe that he will continue to do so for a long time! We don't let possibilities dictate us or dictate what Jaxson is and isn't allowed to do. Sure, we have to be careful, he's going to be on a blood thinner for the rest of his life, but that doesn't mean that life stops or that we have to keep him in a bubble. No, he's a five year old boy who loves to play and be silly and dance and jump and run around like a chicken. He's so perfect, I couldn't imagine trying to keep him bottled up away from the rest of the world! The world needs his smile, it needs his laughter and it needs him to remind us that life is too short. Time to enjoy it while we can!
~"Life is not the way it's supposed to be, it is the way it is. It's how you cope with it that makes the different." -Unknown
Thursday, September 28, 2017
Marveling at Jaxson, My Medical Miracle
So today I was digging around FB looking for a picture to show a friend. I never found it, but that's not what this is about. I came across photos on both of my sister's FB pages of Jax during some of his most difficult times. Right after he was born. When he was sedated and paralyzed after his mechanical valve was placed. Photos from when he had pins in his head for skull distraction. All things that bring tears to my eyes!
Remembering those moments is a hard, harsh reminder of everything that Jaxson has been through, and everything that he has yet to endure. But it is also a moment of wonder; look how far he has come! How many times has he defied the odds? Proven doctors wrong? Made us look for answers until we found them? I can't even count!
Jaxson has been through 12 surgeries and countless sedated procedures. He's been more stable over the last two years since his mechanical valve was placed, and his growth and maturation have blossomed into something beautiful. He's so smart, even if he can't always communicate it, and he is hysterically funny and loves to make jokes. He wants everyone to get along all the time and hates yelling (even at the dogs!). He is running, jumping, riding his tricycle and attempting to beat up his big brother when they play. He's a "normal" 5 year old in almost every aspect!
Does he have hurdles still in front of him? Of course. He has a compromised immune system that will likely land him in the hospital at least once a year in the winter. He has more heart surgeries to come as he grows and his valve needs replaced. He has weekly therapies outside of school, plus what he gets at school, to help combat his Global Delay and get him ready for kindergarten. He may need additional surgeries in the future, something we won't know until we get there.
But for now, Jaxson is healthy. He's stable. He has a ton of appointments, but all of them are follow-ups and not for a new problem. He brings joy to every person he encounters, just by flashing his adorably perfect smile. His new PT marveled to me the other day, it was their first appointment together, that he had made her whole morning. She was smiling and laughing as she brought him back because that spunky personality just makes you laugh!
I have tears, I hoped I wouldn't when writing this, but I do. I just can't get over how far Jaxson has come. Everything he has been through, every battle we've had to fight with him and make sure that he got what he needed, every tear we've shed and every sleepless night we have, it's all worth it. When I see him get off the bus and run to his brother or me or his dad (depends on who gets him off) with a huge smile on his face and a massive hug, I can't imagine anything better.
Jaxson, one day you will read these blogs. I've tried to keep up as best I can, and I know I'm not perfect at it, but I really hope that one day you will see the love you bring to people, and the love that people have for you. I hope you see that while mom was stressed and upset, I still made you and Jeffrey a priority. You are the light of my life, my little monkey. I know God has big things planned for you, and I can't wait to see what else you do to prove people wrong and be the most amazing you there is! <3
"Life is not the way it's supposed to be, it is the way it is. It's the way you cope with it that makes the difference."
Remembering those moments is a hard, harsh reminder of everything that Jaxson has been through, and everything that he has yet to endure. But it is also a moment of wonder; look how far he has come! How many times has he defied the odds? Proven doctors wrong? Made us look for answers until we found them? I can't even count!
Jaxson has been through 12 surgeries and countless sedated procedures. He's been more stable over the last two years since his mechanical valve was placed, and his growth and maturation have blossomed into something beautiful. He's so smart, even if he can't always communicate it, and he is hysterically funny and loves to make jokes. He wants everyone to get along all the time and hates yelling (even at the dogs!). He is running, jumping, riding his tricycle and attempting to beat up his big brother when they play. He's a "normal" 5 year old in almost every aspect!
Does he have hurdles still in front of him? Of course. He has a compromised immune system that will likely land him in the hospital at least once a year in the winter. He has more heart surgeries to come as he grows and his valve needs replaced. He has weekly therapies outside of school, plus what he gets at school, to help combat his Global Delay and get him ready for kindergarten. He may need additional surgeries in the future, something we won't know until we get there.
But for now, Jaxson is healthy. He's stable. He has a ton of appointments, but all of them are follow-ups and not for a new problem. He brings joy to every person he encounters, just by flashing his adorably perfect smile. His new PT marveled to me the other day, it was their first appointment together, that he had made her whole morning. She was smiling and laughing as she brought him back because that spunky personality just makes you laugh!
I have tears, I hoped I wouldn't when writing this, but I do. I just can't get over how far Jaxson has come. Everything he has been through, every battle we've had to fight with him and make sure that he got what he needed, every tear we've shed and every sleepless night we have, it's all worth it. When I see him get off the bus and run to his brother or me or his dad (depends on who gets him off) with a huge smile on his face and a massive hug, I can't imagine anything better.
Jaxson, one day you will read these blogs. I've tried to keep up as best I can, and I know I'm not perfect at it, but I really hope that one day you will see the love you bring to people, and the love that people have for you. I hope you see that while mom was stressed and upset, I still made you and Jeffrey a priority. You are the light of my life, my little monkey. I know God has big things planned for you, and I can't wait to see what else you do to prove people wrong and be the most amazing you there is! <3
"Life is not the way it's supposed to be, it is the way it is. It's the way you cope with it that makes the difference."
Friday, December 16, 2016
A Not-So-Friendly Reminder
Jaxson had his 12th surgery on December 5, 2015. It was his second open-heart surgery, the one where they placed his mechanical mitral valve. We spent three weeks in the hospital last year, but were lucky enough to make it home three days before Christmas. Jaxson's first Christmas was spent at the hospital when he had RSV at 5 months of age. He was discharged on Christmas day. I had to go back and look, but his second Christmas was spent at home. Only that year we were struggling so bad that the kids barely got anything from us. We did get donations that year, though, and the kids still had a good Christmas. It might not be Christmas yet this year, but it's pretty damn close. And here we are at the hospital once again with a case of RSV.
RSV is a respiratory virus that can cause bronchiolitis or pneumonia in children who have heart and lung disorders. In typical kids, it's a cold that requires monitoring and comfort as it mimics a common cold, but nothing more. In kids like Jax, it can be deadly. Most kids get it before the age of 1, but only a few who get it will get it again. This is Jaxson's second round with it, at an age it doesn't normally happen. On top of that, he has angiodysplasia of the colon (meaning the capillary blood vessels are weak and break easily) which causes bloody stool. Combine that with a high INR and now he has low iron. All of his other levels seem to be okay for the moment, but they are checking him regularly to make sure nothing drastically changes.
And thus is the ugliness of Kabuki Syndrome rearing it's even uglier head. Respiratory problems are common, and while Kabuki itself does not cause premature death, the problems it causes can. Like intense respiratory infections and viruses that don't respond to treatment, or take a really long time to do so. And here I thought Jaxson was going to be relatively "typical" from this point forward. I guess the joke is on me for putting on rose-colored glasses after a year with no admissions. (There was actually one, but it was only one night and it was to keep him hydrated for a procedure.)
So now that I've been brought back down to Earth, I have been doing some research on RSV and all of his other stuff. Nothing noteworthy yet, I haven't found anything that I didn't already know. But I do know that we won't be getting out of here today. And here I thought we were out of the woods. I forget that when you have a child with CHD who is also prone to respiratory problems, you are never out of the woods. Every illness is alarming. Every hospitalization has its own problems. Even if it's an illness that's happened before, this one will be different. It's an ever-changing thing because kids grow and change, their hormones and antibodies and bloodwork levels change. The way they react to treatment changes. It's an ongoing battle of figuring out what the problem is and how to tackle it in the most effective manner.
It is clear that winter is going to be a rough time for the rest of our lives. Keeping Jaxson healthy and out of the hospital has been near impossible over the last four years, with the exception of this past year, and I don't see it changing anytime soon.
The thing is, while worrying about Jaxson is always in the back of my head, in times like this I always worry about Jeffrey too. He's so worried about his brother, and because of flu restrictions, he can't come up and visit because he's too young. Both of them are cranky about it. And Jeffrey misses me, and I miss him. He gets shafted on so many things, we decided to take him to Chuck E. Cheese for his birthday last weekend. And then Jax gets sick. And Jeffrey loses out on doing certain things. We always try to keep it as normal as possible, but it's never normal when Jax isn't around. For instance, tomorrow the boys were supposed to go to the school where my dad works to play games and see Santa. Jaxson will not get to go now, but Jeffrey will. Only he won't have as much fun because Jax won't be there and he'll spend the whole time thinking about his brother. On Sunday, I had scheduled a private visit with Santa so we could get some decent pictures without the crowds. Not sure if Jax will make it for that either. I honestly don't think Jaxson has any photos with Santa yet, and he's 4. But Jeffrey will not like going on Sunday without Jaxson either and it's likely that he'll ask Santa for something for Jax. It just breaks my heart.
For now, I hope the doctors get to us soon so we can find out what's going on and what the plan is. I know we'll be here at least one more night, but I'm not sure if they have concerns over anything else yet. I pray we can go home tomorrow, or maybe even Sunday before photos. Please pray for the same with me.
RSV is a respiratory virus that can cause bronchiolitis or pneumonia in children who have heart and lung disorders. In typical kids, it's a cold that requires monitoring and comfort as it mimics a common cold, but nothing more. In kids like Jax, it can be deadly. Most kids get it before the age of 1, but only a few who get it will get it again. This is Jaxson's second round with it, at an age it doesn't normally happen. On top of that, he has angiodysplasia of the colon (meaning the capillary blood vessels are weak and break easily) which causes bloody stool. Combine that with a high INR and now he has low iron. All of his other levels seem to be okay for the moment, but they are checking him regularly to make sure nothing drastically changes.
And thus is the ugliness of Kabuki Syndrome rearing it's even uglier head. Respiratory problems are common, and while Kabuki itself does not cause premature death, the problems it causes can. Like intense respiratory infections and viruses that don't respond to treatment, or take a really long time to do so. And here I thought Jaxson was going to be relatively "typical" from this point forward. I guess the joke is on me for putting on rose-colored glasses after a year with no admissions. (There was actually one, but it was only one night and it was to keep him hydrated for a procedure.)
So now that I've been brought back down to Earth, I have been doing some research on RSV and all of his other stuff. Nothing noteworthy yet, I haven't found anything that I didn't already know. But I do know that we won't be getting out of here today. And here I thought we were out of the woods. I forget that when you have a child with CHD who is also prone to respiratory problems, you are never out of the woods. Every illness is alarming. Every hospitalization has its own problems. Even if it's an illness that's happened before, this one will be different. It's an ever-changing thing because kids grow and change, their hormones and antibodies and bloodwork levels change. The way they react to treatment changes. It's an ongoing battle of figuring out what the problem is and how to tackle it in the most effective manner.
It is clear that winter is going to be a rough time for the rest of our lives. Keeping Jaxson healthy and out of the hospital has been near impossible over the last four years, with the exception of this past year, and I don't see it changing anytime soon.
The thing is, while worrying about Jaxson is always in the back of my head, in times like this I always worry about Jeffrey too. He's so worried about his brother, and because of flu restrictions, he can't come up and visit because he's too young. Both of them are cranky about it. And Jeffrey misses me, and I miss him. He gets shafted on so many things, we decided to take him to Chuck E. Cheese for his birthday last weekend. And then Jax gets sick. And Jeffrey loses out on doing certain things. We always try to keep it as normal as possible, but it's never normal when Jax isn't around. For instance, tomorrow the boys were supposed to go to the school where my dad works to play games and see Santa. Jaxson will not get to go now, but Jeffrey will. Only he won't have as much fun because Jax won't be there and he'll spend the whole time thinking about his brother. On Sunday, I had scheduled a private visit with Santa so we could get some decent pictures without the crowds. Not sure if Jax will make it for that either. I honestly don't think Jaxson has any photos with Santa yet, and he's 4. But Jeffrey will not like going on Sunday without Jaxson either and it's likely that he'll ask Santa for something for Jax. It just breaks my heart.
For now, I hope the doctors get to us soon so we can find out what's going on and what the plan is. I know we'll be here at least one more night, but I'm not sure if they have concerns over anything else yet. I pray we can go home tomorrow, or maybe even Sunday before photos. Please pray for the same with me.
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