Today I am sitting in the hospital for the 17th straight day/night. It's Jaxson's longest stay since he was in the NICU for 45 days right after he was born. Everyone wants to know if he's going to be home for Christmas, and I don't have an answer. What I want to say is that he should be, he should be out in a couple of days. But it's Jax, and using terms like "should" and "normally" do not apply. This is the kid who saw his INR spike up to 8.8, then plummet, and now we're back up to the dose that put him at 8.8 and he's not even at 2. Let that sink in before you read too much more because that is life with Jaxson. He doesn't tell us his rules, he just does what he does.
So as I sit here contemplating having him spend his second of four Christmases in the hospital, I get a painful reminder of how thankful I need to be.
Thankful? Yes, you read that right. We may spend a lot of time at the hospital, Jax may have had 12 surgeries (and counting), and we may not know when we get to go home again, but one thing I can tell you is certain: We WILL go home. I may not have been able to say that a few days ago, but I can now. I know we will go home, and even if he doesn't get to come home for Christmas, he will still be here on this earth.
As the mom of a special needs baby/child, you make connections with other moms just like you. Usually you find moms that deal with similar issues as you, but that's not always the case and sometimes that's nice too. Right now, there are two groups of moms I feel most connected to: Congenital Heart Disease moms and Kabuki moms. And sometimes those moms are both.
A CHD mom knows the struggle of seeing your child turn colors, have no energy, struggle to breathe, sweat way too much, and have to give meds that are usually saved for the elderly. A Kabuki mom knows the struggle of sensory issues, feeding therapy, developmental delay, behavior problems and a slew of other things. And, again, sometimes the two overlap.
One thing that overlaps is something no one wants to think about, let alone talk about, and that is losing your child to the disease that ravages their body. I have mom friends on both sides who have lost children and babies to both diseases. And you know what? They would trade places with me in a heartbeat. I know they would because if the roles were reversed, I would.
Every mom is an advocate for her child. If your child is hit by a drunk driver or someone texting and driving and they become severely disabled or worse, you become an advocate for education and law reform in those areas. The same applies for medical disabilities. You become an advocate for your child, you are their voice to be heard and you will not let your voice fall on deaf ears. I've been here over two weeks and contacted a patient liaison because I couldn't get through to the doctors. I'm pretty independent and stubborn, asking for help is not something I do well or easily. But moms need help too, and moms can only do so much. And what our babies really need when they're sick is for mom to be there to comfort them. How can I do that if my head is constantly aswirl with things I feel I need to handle? So I asked for help, and I'm glad I did. I have been able to relax and enjoy this weekend with my son.
Which brings me back to the point. My son is here. I can physically see him, touch him, kiss his cheeks, ruffle his hair, hear him laugh, hear him cry, watch his personality grow, yell at him when he doesn't listen, cuddle him when he cries. There are so many parents out there who not only have to spend this holiday without their precious baby(s), but many who suffered the loss during this time of year.It's painfully heartbreaking to see people I love grieve so hard. And if it's painful for me, I can't imagine what it must feel like for them.
So, those of you who are in these shoes, you know who you are. Know that you are loved, you are prayed for, you are thought of. Not just by me, although I do include myself, but your families love you and need you in their lives. Moms like me need you to share your experiences, help us learn things we haven't come across yet, teach us what it really means to be a warrior's mom. Because, like the warrior''s of old, our tiny warriors don't always make it home either. They say it takes a village to raise a child. It also takes a village to keep the mother of a warrior in one piece when needed.
However you choose to remember those lost too soon, make sure you do it before Christmas this year. Light a candle. Let go of a balloon. Write on a rock and throw it in the river. Tie a ribbon around your car antenna or telephone poles in your area. Pass out flyers. Give out bracelets. Whatever it is that you do, be sure to do it this week. The moms of these amazing human beings that were taken cannot do this on their own and it is our job to make sure they don't have to.
So tonight I am thankful. Thankful for my own life and health, and thankful that, at least for now, Jaxson is still with us and will eventually come home. Thankful that his brother is a happy and healthy 7 year old with more energy than any 25 people I know. Thankful that I have a husband who loves me, step-sons that respect me, a job that allows me to stay by Jaxson's side and a support system of family and friends that come to the rescue whenever we need it. I will not be sad if Jax can't come home this week. Okay, maybe a little. But I will be thankful that I have him, for however long God decides, he is mine. Cherish your loved ones, tell them you love them often. Don't get caught up in "things". Enjoy your kids for who they are and who they will become. They are all amazing, regardless of ability.
Sunday, December 20, 2015
Tuesday, December 1, 2015
Jaxson's Heart Cath
The first thing you should know about Jaxson's heart cath on Friday is that this is a VERY rare case. Dr. Berman was very informative today at our appointment, and he said that if we knew a doctor who said that it wasn't rare, he wanted to meet him haha. Most mitral valves get ballooned after damage from rheumatic fever. Doing a balloon after a repair is rare, and having his mitral valve repaired at his age is also pretty rare. The goal of this procedure is to buy Jaxson time to get a little bigger before he has to have his mitral valve completely replaced.
That said, Dr. Berman and the other two cath doctors are taking a very conservative approach to this. Dr. Cheatham is the head of the cath lab, and he has developed new balloons for cath's that are now used all over the world. He is literally at the top of the field, and he hand-picked Dr. Berman and the other cath doctor whose name I can't remember. All three of them will be in on Jaxson's procedure, and Dr. McConnell is the surgeon on call if anything were to go wrong and immediate surgery is needed.
Jaxson's case isn't just rare, it's extremely complicated. They will run a cath through his femoral artery in his thigh and they will also have a transesophogeal echo camera in place while they do the cath as well. Before they attempt to balloon anything, they will run the cath through the arteries in his heart to measure the pressure inside his heart and lungs. This will establish a baseline for them to know if something isn't working well or is causing a problem during the procedure. They will use contrast dye to help clear up the pictures from the TEE scope, which will enable precise movement of the cath inside the heart. Once that is done, they will start with the smallest balloon available to see if they can open the valve. If that is successful, they will move to the next size and so on.
There are a few major risks that have to be considered during this procedure. One is that they are assuming Jaxson has at least moderate pulmonary hypertension, if not severe. That means the pressure in his lungs is really high, and if something causes additional pressure that the heart can't handle, it could cause problems. Stroke is one, and so is death. The risk of these two is minimal, but Jax is at a higher risk because of the pressure. They do not anticipate either of these presenting, but it is something we have to keep in mind. Another risk is that with part of the cath, they use a needle to poke through a certain wall in the heart to get access to the upper chambers, so when they do that it could cause a puncture of the heart or a major blood vessel that would require immediate surgery. Again, not something anticipated, but something to bear in mind. It could also be that he has a septal defect not seen on previous scans, in which case the needle used to go through that wall would slide through that hole instead of creating a new one. Septal defects (hole in the heart) are common with Kabuki, so it's a definite possibility even though we haven't seen it before.
Those are just the cath risks, the things that could happen based on a cath being inserted into the heart to gather information.
Once they are through with the first part, then they will attempt to balloon the valve. Again taking a conservative approach, starting with the smallest balloon and working up. When the balloon is attempted, even with the small one, it could cause leakage from the valve into the heart. Some amount of leakage is an acceptable trade-off that can be lived with until the valve is replaced. If it's a big leak, it's straight to the OR. There is risk of a tear or rupture of a heart vessel that could require surgery, risk of weakening of the vessel wall leading to aneurysm, and risk of damage to the leg artery or vein where the cath is inserted. There is a slight risk of the balloon breaking and not coming out through the cath properly, which would require surgical intervention but usually at the insertion site and not the heart.
There are so many things we have to be aware of and that the doctors are looking for and paying attention to in the lab. I think their approach is a good one, and I also believe that they will not take any chances on causing a leak. If they pull the balloon out and the mitral muscles do not stay open as they should, it's considered a complete fail. At that point we would be looking at replacing the valve as our next step, although I do not think it would result in emergency surgery.
The doctors have requested that we be admitted on Thursday night so that Jax can be on IV fluids while he's not allowed to eat. Keeping him hydrated plays a factor in the success of the cath, so we agreed and will be going in sometime Thursday evening. After the procedure, Jax will go to the PICU for recovery. Depending on the pressure in his lungs, the breathing tube may or may not be removed at that time. They could potentially want him to keep it in for a day and be monitored in ICU, or if he does well they will remove it and we'll go to a regular room for the night. A cath procedure is typically a one-night stay, but Dr. Berman did say that we should be prepared for a weekend stay. It's something we have already prepared ourselves for, but hopefully Jaxson proves the doctors wrong as he has done on so many occasions and we will have a "normal" experience.
There is nothing normal about this procedure, though. It's one of those things that no one knows what's going to happen until they get in there. And it would have been the same in Boston. Jaxson continues to live in the gray-area that doctor's can't pinpoint how successful the procedure will be. They will measure the pressure in his heart and lungs after each balloon, so they will know pretty quickly if it's going to work. We do not know how long it will take to complete this procedure because the doctors are going to take their time and do everything in their power to minimize the risks.
If this works, it will be a miracle in my opinion. I'm already mentally prepared for them to have to rush him to emergency surgery because it's not working like it's supposed to. I really, really hope I'm wrong, but I'd rather be prepared than not. We will get updates via the EASE app again, which is nice, and they will call if anything crazy happens. My personal best case scenario is that the cath works. Period. It doesn't matter to me how long it lasts, just give the kid some time before he has to be put through another surgery. The worst-case scenario is emergency valve replacement, at least in my head. Obviously we worry about the other risks of stroke and death, but I honestly feel so comfortable with the approach that I don't really consider those as options that could happen. And, it's just too hard to go there. Do we know it's a possibility? Of course, but it's such a rare thing to have happen in any case that I think they'll be able to prevent major risks by being cautious.
We have had an immensely busy couple of weeks and it doesn't look to slow down any time soon. We've successfully moved everything from the old house to the new one, although there is some major work to do unpacking. Jax has appointments all week, I have an appt on Thursday, I met with Jeffrey's school counselor this morning, Jax's cath is Friday and Jeffrey's birthday is Monday. Then there's Grandma Julie's birthday and Christmas and New Year's. And if we're lucky, we'll manage to stay out of the hospital for the holidays, although Jax does love to be there on holiday's. Any holiday!
Right now, there are only a few things you can do to support us. One is PRAY! That's the biggest. Pray for the doctors and Jaxson, pray for Jeffrey to have understanding and not throw crazy fits, pray for Jayson and I to make it through this with our sanity intact and pray for the best possible outcome of this. Another thing you can do is help us replace some of the things we were unable to bring to the new house. For example, our fridge had to be left because it was in too bad of shape to bring. After living with bugs for 18 months, it was too gross to even clean. We also need a toaster (had to be left) an oven (we didn't have one), a bed frame and mattress for Jeffrey (he's been sleeping on a futon mattress, poor kid) and there's birthday's and Christmas coming. We were able to pick up another couch and a desk thanks to a good friend of mine, but we have to rent a truck to go get it and there's a lot more house to fill than there was before. We'd like to replace our dishes, silverware, etc. and things that we brought here out of necessity but really need to go. Finances are always tight during the holidays and hospital stays, and we have both this month. We feel like we finally caught a break in that area and want to keep it that way!
Thank you to everyone for your continued support and prayers. I feel like I say that all the time, but there is no better way to say it. We could not do this without all of you! We firmly believe in the power of prayer, and a lot of our prayers have been answered recently. We feel very blessed and extremely lucky to have such an amazing support group! Thank you just never seems like enough. We love you all!
That said, Dr. Berman and the other two cath doctors are taking a very conservative approach to this. Dr. Cheatham is the head of the cath lab, and he has developed new balloons for cath's that are now used all over the world. He is literally at the top of the field, and he hand-picked Dr. Berman and the other cath doctor whose name I can't remember. All three of them will be in on Jaxson's procedure, and Dr. McConnell is the surgeon on call if anything were to go wrong and immediate surgery is needed.
Jaxson's case isn't just rare, it's extremely complicated. They will run a cath through his femoral artery in his thigh and they will also have a transesophogeal echo camera in place while they do the cath as well. Before they attempt to balloon anything, they will run the cath through the arteries in his heart to measure the pressure inside his heart and lungs. This will establish a baseline for them to know if something isn't working well or is causing a problem during the procedure. They will use contrast dye to help clear up the pictures from the TEE scope, which will enable precise movement of the cath inside the heart. Once that is done, they will start with the smallest balloon available to see if they can open the valve. If that is successful, they will move to the next size and so on.
There are a few major risks that have to be considered during this procedure. One is that they are assuming Jaxson has at least moderate pulmonary hypertension, if not severe. That means the pressure in his lungs is really high, and if something causes additional pressure that the heart can't handle, it could cause problems. Stroke is one, and so is death. The risk of these two is minimal, but Jax is at a higher risk because of the pressure. They do not anticipate either of these presenting, but it is something we have to keep in mind. Another risk is that with part of the cath, they use a needle to poke through a certain wall in the heart to get access to the upper chambers, so when they do that it could cause a puncture of the heart or a major blood vessel that would require immediate surgery. Again, not something anticipated, but something to bear in mind. It could also be that he has a septal defect not seen on previous scans, in which case the needle used to go through that wall would slide through that hole instead of creating a new one. Septal defects (hole in the heart) are common with Kabuki, so it's a definite possibility even though we haven't seen it before.
Those are just the cath risks, the things that could happen based on a cath being inserted into the heart to gather information.
Once they are through with the first part, then they will attempt to balloon the valve. Again taking a conservative approach, starting with the smallest balloon and working up. When the balloon is attempted, even with the small one, it could cause leakage from the valve into the heart. Some amount of leakage is an acceptable trade-off that can be lived with until the valve is replaced. If it's a big leak, it's straight to the OR. There is risk of a tear or rupture of a heart vessel that could require surgery, risk of weakening of the vessel wall leading to aneurysm, and risk of damage to the leg artery or vein where the cath is inserted. There is a slight risk of the balloon breaking and not coming out through the cath properly, which would require surgical intervention but usually at the insertion site and not the heart.
There are so many things we have to be aware of and that the doctors are looking for and paying attention to in the lab. I think their approach is a good one, and I also believe that they will not take any chances on causing a leak. If they pull the balloon out and the mitral muscles do not stay open as they should, it's considered a complete fail. At that point we would be looking at replacing the valve as our next step, although I do not think it would result in emergency surgery.
The doctors have requested that we be admitted on Thursday night so that Jax can be on IV fluids while he's not allowed to eat. Keeping him hydrated plays a factor in the success of the cath, so we agreed and will be going in sometime Thursday evening. After the procedure, Jax will go to the PICU for recovery. Depending on the pressure in his lungs, the breathing tube may or may not be removed at that time. They could potentially want him to keep it in for a day and be monitored in ICU, or if he does well they will remove it and we'll go to a regular room for the night. A cath procedure is typically a one-night stay, but Dr. Berman did say that we should be prepared for a weekend stay. It's something we have already prepared ourselves for, but hopefully Jaxson proves the doctors wrong as he has done on so many occasions and we will have a "normal" experience.
There is nothing normal about this procedure, though. It's one of those things that no one knows what's going to happen until they get in there. And it would have been the same in Boston. Jaxson continues to live in the gray-area that doctor's can't pinpoint how successful the procedure will be. They will measure the pressure in his heart and lungs after each balloon, so they will know pretty quickly if it's going to work. We do not know how long it will take to complete this procedure because the doctors are going to take their time and do everything in their power to minimize the risks.
If this works, it will be a miracle in my opinion. I'm already mentally prepared for them to have to rush him to emergency surgery because it's not working like it's supposed to. I really, really hope I'm wrong, but I'd rather be prepared than not. We will get updates via the EASE app again, which is nice, and they will call if anything crazy happens. My personal best case scenario is that the cath works. Period. It doesn't matter to me how long it lasts, just give the kid some time before he has to be put through another surgery. The worst-case scenario is emergency valve replacement, at least in my head. Obviously we worry about the other risks of stroke and death, but I honestly feel so comfortable with the approach that I don't really consider those as options that could happen. And, it's just too hard to go there. Do we know it's a possibility? Of course, but it's such a rare thing to have happen in any case that I think they'll be able to prevent major risks by being cautious.
We have had an immensely busy couple of weeks and it doesn't look to slow down any time soon. We've successfully moved everything from the old house to the new one, although there is some major work to do unpacking. Jax has appointments all week, I have an appt on Thursday, I met with Jeffrey's school counselor this morning, Jax's cath is Friday and Jeffrey's birthday is Monday. Then there's Grandma Julie's birthday and Christmas and New Year's. And if we're lucky, we'll manage to stay out of the hospital for the holidays, although Jax does love to be there on holiday's. Any holiday!
Right now, there are only a few things you can do to support us. One is PRAY! That's the biggest. Pray for the doctors and Jaxson, pray for Jeffrey to have understanding and not throw crazy fits, pray for Jayson and I to make it through this with our sanity intact and pray for the best possible outcome of this. Another thing you can do is help us replace some of the things we were unable to bring to the new house. For example, our fridge had to be left because it was in too bad of shape to bring. After living with bugs for 18 months, it was too gross to even clean. We also need a toaster (had to be left) an oven (we didn't have one), a bed frame and mattress for Jeffrey (he's been sleeping on a futon mattress, poor kid) and there's birthday's and Christmas coming. We were able to pick up another couch and a desk thanks to a good friend of mine, but we have to rent a truck to go get it and there's a lot more house to fill than there was before. We'd like to replace our dishes, silverware, etc. and things that we brought here out of necessity but really need to go. Finances are always tight during the holidays and hospital stays, and we have both this month. We feel like we finally caught a break in that area and want to keep it that way!
Thank you to everyone for your continued support and prayers. I feel like I say that all the time, but there is no better way to say it. We could not do this without all of you! We firmly believe in the power of prayer, and a lot of our prayers have been answered recently. We feel very blessed and extremely lucky to have such an amazing support group! Thank you just never seems like enough. We love you all!
Friday, October 30, 2015
My Older Son is Not "Jaxson's Brother", His Name is Jeffrey and He is Amazing
All too often, siblings of special needs kids go overlooked and underappreciated. These children go through so much, and people don't even realize how strong they are. This week I realized just how much our family has to sacrifice on a daily basis to meet Jaxson's needs. The impact of Kabuki Syndrome on Jeffrey is wildly evident during the holidays.
This week, the final week in October, is typically filled with celebration. Kids bounce off the walls in anticipation of Trick or Treat, parents do their best not to rip out their hair, and it finally feels as if fall has arrived. With fall and the return to school, germs and bacteria are spread in vast arrays all over the country. A typical child will get the cold or whatever bug happens to be ravaging the school, and recover in a short period. Kids with depressed immune systems or who are more susceptible to illness are not so lucky.
Thus is the case with Jaxson. He has not been diagnosed with an immune deficiency yet. I say "yet" because it is possible that he will develop the problem as he gets older, it is very common in Kabuki. Jaxson also has a slew of issues that make it hard for him to fight colds, and a bout of any respiratory problem is bound to land him in the hospital. His mitral valve is causing blood to back up into the right side of his heart and put pressure on his lungs causing them to retain fluid and he has pulmonary hypertension. On top of that, Jaxson has Reactive Airway Disease, which is a step below asthma. He doesn't have attacks, but his airway is extremely sensitive. Nasal and sinus drainage give him major coughing fits, sometimes to the point he gets sick, and his body can't protect his lungs from such drainage properly. So when Jeffrey stayed home for a week with what we thought was a virus, we did our best to keep him away from his brother. Any parent knows how impossible that is.
I knew when Jeffrey got sick that Jax was going to get it and eventually need admitted. I hate being right, but I guess mom's just know their kids. Because of Jaxson getting sick, the boys didn't get to have the celebration we had planned for them. On Sunday, there was a Halloween party for kids with congenital heart disease through Mended Little Hearts of Columbus. We RSVP'd that we would be there, but Sunday was the day Jax was admitted. When we couldn't go to that, Jayson was sweet enough to take Jeffrey to a local event so that he could still have some fun even though he was bummed we missed the party. He and daddy also painted his pumpkin while Jax was in the hospital, Jayson wanted to give Jeffrey a distraction and show him some special attention. He's such a good daddy! But missing out on those things wasn't all. Jaxson could not go Trick or Treating last night because he's still fighting the remnants of the flu, so Jayson took Jeffrey with some friends while Jax and I stayed home. I tried to have him paint his pumpkin, but he wanted nothing to do with it. I know he was upset he didn't get to go, even if he can't voice it. And now today, Jeffrey has his Halloween party at school. Last year I dressed Jax in his costume and we went up to hang out with his class. I told Jeffrey this morning that we wouldn't be able to go, and he just says, "I know," and looks down at his donuts sadly.
Seeing that broke my heart. Jeffrey is such an amazing kid, and he's all too often swept to the side because Jaxson needs extra attention. Jeffrey will be 7 at the beginning of December, and for the last three years he's had to do things separately from his brother, which is unlike anything he's used to seeing. All the other kids he knows get to have regular celebrations and do all kinds of fun things with their families. But he doesn't complain. He gets sad sometimes, and sometimes he acts out, but he's also a 7 year old boy and they just do that. Jeffrey just has an extra reason to behave that way sometimes.
Jeffrey is the most empathetic child I have ever seen. He gets so upset when Jaxson is inpatient, he cannot stand to have the family separated even if we are close by. He's so smart, and silly and wild and crazy and all of the things a 7 year old boy should be. He loves his brother so much and will do anything to help keep him happy! God could not have given us two more perfect children. I want to find a way to show Jeffrey just how much he's loved and appreciated, but it's not easy at his age. Sometimes nothing is enough, and that's normal for a lot of children. So we do our best, but we never feel like it's enough to compensate for everything he's had to go through.
Not only is Jeffrey affected, but Jayson and I are too. I am the one who typically stays with Jax for a variety of reasons, so I miss out on a lot of fun things with Jeffrey. But we do try to take turns, so sometimes it's Jayson that misses out. I had to quit my job and stay home with Jax because of his health issues, and although now I'm working from home, I don't get the breaks I did before. Jayson has had to deal with numerous employers who refused to understand and allow him time off when he needed it (his current job has been great, except for one incident). We do not have the financial means to give our children the things that they want, and sometimes the things that they need. Jayson and I will go without eating if we have to, to make sure that Jeffrey has food and Jaxson has diapers. We live in a not so nice area of town because we can't afford to live anywhere else. Things are on the upswing now, but it's taken a long time to get where we are.
The impact of a medical diagnosis on a child affects everyone in the household. People always say we're so strong and that Jaxson is the toughest kid they know, but let me tell you something. Jeffrey is tougher than Jaxson. He may act like a sensitive, whiny brat at times, but all kids do. Jeffrey has more mental strength than any kid his age should have, and he's learning to control his emotions already which makes me sad. We would love for our boys to have some semblance of normalcy, like a family with "typical" children. We will never have that. Jayson and I, we are fine, we get it and we will do whatever it takes to care for our kids. But Jeffrey deserves so much more.
Friday, October 23, 2015
Kabuki Syndrome Awareness Day!
Today is Kabuki Syndrome Awareness Day worldwide! Since we are all sick in my house, I wanted to put out an informational piece regarding Kabuki to help raise awareness via the internet. The fact that we are stuck inside today is a prime example of how Kabuki affects our family and others.
Kabuki Syndrome is a rare genetic disorder, affecting just 1 in every 32,000 live births. It's so rare that there are only a few families in Ohio that live with it. It is usually clinically diagnosed by certain facial features common to Japanese Kabuki Theater
makeup, including high arched eyebrows, large wide-set eyes, ear abnormalities (large, low set, small or missing) and a wide nasal bridge. It can also come with a cleft lip or palate, hearing loss, vision impairment, feeding difficulties, and intellectual disability. All Kabuki symptoms range from mild to severe, and is considered akin to Autism for the sensory, behavior and mental disability problems. Kabuki patients also can have hypotonia (low muscle tone), persistent fetal finger tip pads, short pinky fingers/toes and large hands and feet. It can cause late-onset dwarfism, short stature and developmental delay. It can also cause dental issues like not having certain teeth, teeth coming in in the wrong order, gum disease and gingivitis due to poor oral hygiene because of sensory problems.
Besides the physically visible abnormalities, there are a slew of medical complications that may or may not come with a Kabuki diagnosis. Medical problems can affect nearly every part of the body: Lungs and airway, stomach, heart, kidneys, reproductive organs, skin, muscles and immune system. Some Kabuki patients have issues that other Kabuki patients do not have. Some patients have lots of physical and medical problems but not as much on the mental side, while others have severe mental impairment and relatively little medical problems. Some have it mild all the way around and some have it severe all the way around. Some patients walk normally, some are late walkers, some cannot walk without an assistive device and some cannot walk at all.
Every single Kabuki patient is different, which is what makes it so hard to treat. To this point, doctors are tailoring treatment to each patient's need, but there is no set standard that all patients receive. Most doctors recommend early and aggressive treatment for ear infections due to the chronic nature in which Kabuki patients tend to get them. Ear infections, if not treated properly, can cause hearing loss, which is already a problem with most of these patients anyway. It is also recommended to have all vaccinations at the time they are due, including the pneumonia vaccine. Because of their susceptibility to infection due to a low-functioning immune system, any respiratory illness can progress rapidly.
Heart and kidney problems are very common in Kabuki patients as well. Congenital heart disease contains a vast array of problems, including septal defects, valve problems, physiological abnormalities and more. The kidneys can also have a vast array of problems, from having one U-shaped kidney to having two different sized kidneys, to improperly functioning kidneys and more. There are too many possibilities that I cannot think of them all, let alone list them.
With regard to Jaxson, he is affected by Kabuki in all aspects and then some. He has KP on his skin and occasional eczema outbreaks. He has hypotonia that led to him being a delayed walker and gives him gait problems still. He also tires easily when walking a lot and has muscle aches. He was born with a cleft palate, but not his lip, and suffers from hearing loss and vision impairment. He eats by feeding tube due to swallowing problems (likely caused by hypotonia) and oral aversion (sensory). He has wide-set eyes and ptosis (upper lid comes down farther than it should), fetal finger-tip pads (typically disappear in infancy) and will need lots of dental work in the future. He has kidney stones, reactive airway disease and horrible reflux. His heart has a bicuspid aortic valve and his mitral valve had a membrane blocking it at birth, plus other abnormalities with the mitral valve. Because of his heart problems, he also has pulmonary hypertension and is even more susceptible to illness. He has developmental delays in speech, fine and gross motor, and feeding, but cognitively is on par with his peers.
Jax also has issues that are not necessarily proven to be part of Kabuki. He had a tethered cord at birth, had bones fused in his skull at birth, lives with hydrocephalus and Chiari I malformation. All of those things also contribute to his gait and balance problems, can affect his bowels and cause pain, numbness or tingling in his extremities. His 10 surgeries are not typical of a Kabuki kid either, especially since half of them cover the things not related to his syndrome.
Kabuki Syndrome by itself does not alter life expectancy for people diagnosed, but the problems it causes can contribute to premature death. The severity of the problems is what would cause that, and it is not unheard of for children with Kabuki to pass before they should. So while it's a little ray of hope that Kabuki patients can live a normal life span, there's still a little buzzing in the back of the head with "what if's".
Now that I've talked about the problems Kabuki can cause, I also want to talk about the positives. These kids, they are definitely special! Most Kabuki patients are extremely friendly and social, they love other people and constantly want to have attention. They LOVE music! Jax is definitely an example of that. They are generally happy kids, sometimes to the point where you might think they don't know what is going on. But most of them do, they are smarter than you think they are. Kabuki patients are sensitive too, they care if you are happy or sad and want to make sure the people they care about are okay. Jaxson, even with all he's been through, is the happiest kid I've ever seen. He's strong, like all of his Kabuki family, and doesn't seem to feel pain unless it's massive. He gets frustrated when he can't communicate, hates to ask for help and adores his big brother. He is the sweetest thing, asking for hugs and cuddles, wanting his bear (lovey) to have hugs and kisses and pretending his bear is sick when he is. He hates his feeding tube but refuses to eat so he tolerates it. He never wants pain medication, even if he tells me he hurts! He hates clothes, preferring to run around in his diaper. He loves to get under his brother's skin too, which is hysterical to us because he's totally paying Jeffrey back for the last three years of being in his face!
The one thing I want people to take away from this blog is this: Kabuki Syndrome is a diagnosis, but it does not define who our children are. Our Kabuki Kids are beautiful, happy, loving individuals. They have their own personalities and generally have a smile on their faces. Our KKs are nothing short of amazing! They literally have to fight every single day just to survive, and they not only do it, but are mostly happy in doing so. We can learn a lot from our Kabuki family, like how to live life to the fullest with a smile on your face because you never know what's around the corner. In that, it applies to all aspects of life, but the Kabuki patients exemplify what it means every single day.
Kabuki Syndrome is a rare genetic disorder, affecting just 1 in every 32,000 live births. It's so rare that there are only a few families in Ohio that live with it. It is usually clinically diagnosed by certain facial features common to Japanese Kabuki Theater
Besides the physically visible abnormalities, there are a slew of medical complications that may or may not come with a Kabuki diagnosis. Medical problems can affect nearly every part of the body: Lungs and airway, stomach, heart, kidneys, reproductive organs, skin, muscles and immune system. Some Kabuki patients have issues that other Kabuki patients do not have. Some patients have lots of physical and medical problems but not as much on the mental side, while others have severe mental impairment and relatively little medical problems. Some have it mild all the way around and some have it severe all the way around. Some patients walk normally, some are late walkers, some cannot walk without an assistive device and some cannot walk at all.
Every single Kabuki patient is different, which is what makes it so hard to treat. To this point, doctors are tailoring treatment to each patient's need, but there is no set standard that all patients receive. Most doctors recommend early and aggressive treatment for ear infections due to the chronic nature in which Kabuki patients tend to get them. Ear infections, if not treated properly, can cause hearing loss, which is already a problem with most of these patients anyway. It is also recommended to have all vaccinations at the time they are due, including the pneumonia vaccine. Because of their susceptibility to infection due to a low-functioning immune system, any respiratory illness can progress rapidly.
Heart and kidney problems are very common in Kabuki patients as well. Congenital heart disease contains a vast array of problems, including septal defects, valve problems, physiological abnormalities and more. The kidneys can also have a vast array of problems, from having one U-shaped kidney to having two different sized kidneys, to improperly functioning kidneys and more. There are too many possibilities that I cannot think of them all, let alone list them.
With regard to Jaxson, he is affected by Kabuki in all aspects and then some. He has KP on his skin and occasional eczema outbreaks. He has hypotonia that led to him being a delayed walker and gives him gait problems still. He also tires easily when walking a lot and has muscle aches. He was born with a cleft palate, but not his lip, and suffers from hearing loss and vision impairment. He eats by feeding tube due to swallowing problems (likely caused by hypotonia) and oral aversion (sensory). He has wide-set eyes and ptosis (upper lid comes down farther than it should), fetal finger-tip pads (typically disappear in infancy) and will need lots of dental work in the future. He has kidney stones, reactive airway disease and horrible reflux. His heart has a bicuspid aortic valve and his mitral valve had a membrane blocking it at birth, plus other abnormalities with the mitral valve. Because of his heart problems, he also has pulmonary hypertension and is even more susceptible to illness. He has developmental delays in speech, fine and gross motor, and feeding, but cognitively is on par with his peers.
Jax also has issues that are not necessarily proven to be part of Kabuki. He had a tethered cord at birth, had bones fused in his skull at birth, lives with hydrocephalus and Chiari I malformation. All of those things also contribute to his gait and balance problems, can affect his bowels and cause pain, numbness or tingling in his extremities. His 10 surgeries are not typical of a Kabuki kid either, especially since half of them cover the things not related to his syndrome.
Kabuki Syndrome by itself does not alter life expectancy for people diagnosed, but the problems it causes can contribute to premature death. The severity of the problems is what would cause that, and it is not unheard of for children with Kabuki to pass before they should. So while it's a little ray of hope that Kabuki patients can live a normal life span, there's still a little buzzing in the back of the head with "what if's".
Now that I've talked about the problems Kabuki can cause, I also want to talk about the positives. These kids, they are definitely special! Most Kabuki patients are extremely friendly and social, they love other people and constantly want to have attention. They LOVE music! Jax is definitely an example of that. They are generally happy kids, sometimes to the point where you might think they don't know what is going on. But most of them do, they are smarter than you think they are. Kabuki patients are sensitive too, they care if you are happy or sad and want to make sure the people they care about are okay. Jaxson, even with all he's been through, is the happiest kid I've ever seen. He's strong, like all of his Kabuki family, and doesn't seem to feel pain unless it's massive. He gets frustrated when he can't communicate, hates to ask for help and adores his big brother. He is the sweetest thing, asking for hugs and cuddles, wanting his bear (lovey) to have hugs and kisses and pretending his bear is sick when he is. He hates his feeding tube but refuses to eat so he tolerates it. He never wants pain medication, even if he tells me he hurts! He hates clothes, preferring to run around in his diaper. He loves to get under his brother's skin too, which is hysterical to us because he's totally paying Jeffrey back for the last three years of being in his face!
The one thing I want people to take away from this blog is this: Kabuki Syndrome is a diagnosis, but it does not define who our children are. Our Kabuki Kids are beautiful, happy, loving individuals. They have their own personalities and generally have a smile on their faces. Our KKs are nothing short of amazing! They literally have to fight every single day just to survive, and they not only do it, but are mostly happy in doing so. We can learn a lot from our Kabuki family, like how to live life to the fullest with a smile on your face because you never know what's around the corner. In that, it applies to all aspects of life, but the Kabuki patients exemplify what it means every single day.
Sunday, October 4, 2015
Wait and See
It has been almost a year since my last blog post. It's been a very rough year for us with Jaxson having lots of issues, Jeffrey is having behavior issues, Jayson started a new job and I am now working as well. Rather than try to recap what's happened, I prefer to start with what's happening now. That's the reason I write, and the best way for me to relieve stress.
So, back in June Jaxson had open heart surgery for mitral stenosis. Prior to surgery, the pressure in his heart measured at 21. Anything over 10 is considered severe. When he was discharged, his pressure was at 10-11, but because it was such an improvement from before, we expected him to recover and be okay. The doctor had told us that Jax was in a gray area of whether he would need further intervention in the future. Of course, it's Jaxson, so we naturally assumed that he would need something down the road. What we didn't expect was to hear that at the beginning of September, Jaxson's heart pressure was back up to 16. Because he wasn't having any symptoms, we were not in a hurry to proceed with surgery, attempting to put it off as long as possible, but knowing he would need it within six months. We scheduled another procedure for him so the doctors can get a better look at what is going on, and he will have that done tomorrow. He has been retching a lot again, taking really long naps (but waking up of and on) and he's just not as energetic as he was even a week ago. We are happy he's having this TTE tomorrow so we can get this process going, as I'm pretty sure it's going to happen sooner rather than later. What we're looking for tomorrow is a plan. Can we get him to the cath lab? Not likely. Because his valve has been repaired, a valvuloplasty could cause leakage. If they think they can keep the leakage minimal to buy him some time, it could be a consideration, but likely not a feasible option. Can we do another repair? Again, not likely. There's going to be scar tissue from his last surgery, and after reading the surgery notes myself, I can't imagine that they'd be able to do anything else. Which leaves us with one option: Mechanical valve.
Mechanical, or prosthetic, valves are never an ideal choice in a child. For one thing, children grow. So as they grow, the valve will have to be replaced multiple times in order to keep his heart stable. The faux valve will be a foreign body placed into his, in a very sensitive area of the body. There's a chance his heart could reject it, although that's not common. The valves come in two different types: man made and animal. There has been a lot of success placing animal valves in people who need them, but there's also the chance the animal valve will fail before the man-made valve. Of course, no one is looking at the kids that just need them replaced because they're bigger. Studies show that man-made valves last longer, but they are so new, that it's unlikely anyone has done a study on kids who need more than one. But it's not time to worry about it because we don't even know the plan yet. After tomorrow, we'll have a better idea of what to epect with his heart going forward.
Besides his heart, Jax has also been complaining of back pain, leg and foot pain, and he's been extremely constipated. So, when he has his TTE tomorrow, they are also doing an MRI of his spine to see if there are any changes, and they'll check his Chiari as well. Any changes with his spine could lead to changes with his Chiari. Tethered cord and Chiari have a lot of the same symptoms, so sometimes it's hard to tell which is the culprit. Hoping that it's just growing pains and nothing has changed, but we know Jax and I'm not holding my breath. I am expecting another intervention with his spine at some point. I really don't want to touch it right now because he's already going through so much. He doesn't ever want medicine when he's in pain, so I'd rather not risk it. The fear being that his spine was tethered with arachoid, which is not a normal thing, and his previous neurosurgeon said that he did as much as he could without causing further damage. Because his spine has already been operated on, he'll have additional scar tissue in there to get in the way. There's no way to prevent scar tissue from forming, and even if the new NS can clean some of it up, there will be even more after another surgery. So, again, wait and see.
Jaxson likes this whole "wait and see" thing. It's never an emergency until Jax decides that it's time for intervention, and then it's a whirlwind of chaos and appointments and information overload. I've added more meds to my list to keep me sane, Jax has added more meds to keep him healthy, and even Jayson (daddy) is taking meds to help with his seizures (epilepsy) and mood. We are all coping the best we can, but I think none of this is real yet. None of it will be real until we have more information and know a plan. I'm terrified they are going to tell us there's something new and crazy going on, because Jax just does that stuff, and trying not to prepare myself for that is hard. It's a fear, one I try to brace myself for every time he is sedated. For instance, Jax is sitting next to me now and he's breathing really heavy and fast. It's almost panting, but not quite. He's only been awake for about 20 minutes and hasn't done anything crazy. No running, no jumping, no beating on anything. Just playing with his toys. It's a symptom of his heart, but I'm worried about his lungs too. If his mitral valve backs up enough, he will end up with blood in his lungs. There's already extra fluid there, so it won't take much.
On a brighter note, Jayson started a new job earlier this year that he absolutely loves. He's been doing some side jobs for extra money, and I recently started working part-time from home. Sports writing has always been a love of mine, and it's something I've been doing for about 10 years. I've been out of the game for a bit, but it's been nice to get back in the swing of things and write again. I think it will help me keep up with this blog too. The release is exactly what I need right now. It's been getting colder out, so taking Jax anywhere is risky. I get totally depressed when I don't/can't leave the house for days on end, so I try taking extra Vitamin D and B12, and if I can get myself to write on a more regular basis, then maybe I can feel like a regular person again. Maybe. For now, I'm going to enjoy watching football with my littlest man since it's just the two of us today. Can't wait for the big boy to get home from grandma's later, I miss him!
So, back in June Jaxson had open heart surgery for mitral stenosis. Prior to surgery, the pressure in his heart measured at 21. Anything over 10 is considered severe. When he was discharged, his pressure was at 10-11, but because it was such an improvement from before, we expected him to recover and be okay. The doctor had told us that Jax was in a gray area of whether he would need further intervention in the future. Of course, it's Jaxson, so we naturally assumed that he would need something down the road. What we didn't expect was to hear that at the beginning of September, Jaxson's heart pressure was back up to 16. Because he wasn't having any symptoms, we were not in a hurry to proceed with surgery, attempting to put it off as long as possible, but knowing he would need it within six months. We scheduled another procedure for him so the doctors can get a better look at what is going on, and he will have that done tomorrow. He has been retching a lot again, taking really long naps (but waking up of and on) and he's just not as energetic as he was even a week ago. We are happy he's having this TTE tomorrow so we can get this process going, as I'm pretty sure it's going to happen sooner rather than later. What we're looking for tomorrow is a plan. Can we get him to the cath lab? Not likely. Because his valve has been repaired, a valvuloplasty could cause leakage. If they think they can keep the leakage minimal to buy him some time, it could be a consideration, but likely not a feasible option. Can we do another repair? Again, not likely. There's going to be scar tissue from his last surgery, and after reading the surgery notes myself, I can't imagine that they'd be able to do anything else. Which leaves us with one option: Mechanical valve.
Mechanical, or prosthetic, valves are never an ideal choice in a child. For one thing, children grow. So as they grow, the valve will have to be replaced multiple times in order to keep his heart stable. The faux valve will be a foreign body placed into his, in a very sensitive area of the body. There's a chance his heart could reject it, although that's not common. The valves come in two different types: man made and animal. There has been a lot of success placing animal valves in people who need them, but there's also the chance the animal valve will fail before the man-made valve. Of course, no one is looking at the kids that just need them replaced because they're bigger. Studies show that man-made valves last longer, but they are so new, that it's unlikely anyone has done a study on kids who need more than one. But it's not time to worry about it because we don't even know the plan yet. After tomorrow, we'll have a better idea of what to epect with his heart going forward.
Besides his heart, Jax has also been complaining of back pain, leg and foot pain, and he's been extremely constipated. So, when he has his TTE tomorrow, they are also doing an MRI of his spine to see if there are any changes, and they'll check his Chiari as well. Any changes with his spine could lead to changes with his Chiari. Tethered cord and Chiari have a lot of the same symptoms, so sometimes it's hard to tell which is the culprit. Hoping that it's just growing pains and nothing has changed, but we know Jax and I'm not holding my breath. I am expecting another intervention with his spine at some point. I really don't want to touch it right now because he's already going through so much. He doesn't ever want medicine when he's in pain, so I'd rather not risk it. The fear being that his spine was tethered with arachoid, which is not a normal thing, and his previous neurosurgeon said that he did as much as he could without causing further damage. Because his spine has already been operated on, he'll have additional scar tissue in there to get in the way. There's no way to prevent scar tissue from forming, and even if the new NS can clean some of it up, there will be even more after another surgery. So, again, wait and see.
Jaxson likes this whole "wait and see" thing. It's never an emergency until Jax decides that it's time for intervention, and then it's a whirlwind of chaos and appointments and information overload. I've added more meds to my list to keep me sane, Jax has added more meds to keep him healthy, and even Jayson (daddy) is taking meds to help with his seizures (epilepsy) and mood. We are all coping the best we can, but I think none of this is real yet. None of it will be real until we have more information and know a plan. I'm terrified they are going to tell us there's something new and crazy going on, because Jax just does that stuff, and trying not to prepare myself for that is hard. It's a fear, one I try to brace myself for every time he is sedated. For instance, Jax is sitting next to me now and he's breathing really heavy and fast. It's almost panting, but not quite. He's only been awake for about 20 minutes and hasn't done anything crazy. No running, no jumping, no beating on anything. Just playing with his toys. It's a symptom of his heart, but I'm worried about his lungs too. If his mitral valve backs up enough, he will end up with blood in his lungs. There's already extra fluid there, so it won't take much.
On a brighter note, Jayson started a new job earlier this year that he absolutely loves. He's been doing some side jobs for extra money, and I recently started working part-time from home. Sports writing has always been a love of mine, and it's something I've been doing for about 10 years. I've been out of the game for a bit, but it's been nice to get back in the swing of things and write again. I think it will help me keep up with this blog too. The release is exactly what I need right now. It's been getting colder out, so taking Jax anywhere is risky. I get totally depressed when I don't/can't leave the house for days on end, so I try taking extra Vitamin D and B12, and if I can get myself to write on a more regular basis, then maybe I can feel like a regular person again. Maybe. For now, I'm going to enjoy watching football with my littlest man since it's just the two of us today. Can't wait for the big boy to get home from grandma's later, I miss him!
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