July 13, 2016

Confirming Aiden's Diagnosis

Finally. Nearly 4 months after Aiden's birth, we got the results back from his genetic testing. And they have confirmed he has a gene mutation within COL2A1.

I sat down with two of his geneticists for over an hour as they went over the results with me. I am fascinated.

They explained to me that if David and I were to do genetic testing with blood work, it wouldn't gain any results or answers for us. They have been able to determine his gene mutation was stemmed from either a mutated sperm, or a mutated egg. In order to do any testing, they would have to test sperm and eggs. And the chance that they were to extract a second sperm or egg containing the mutation would be one in a million. Because I have a simian crease on my left hand, they still think there is more of a chance it came from me. And since it stemmed from a sperm or egg, the likelihood of us having another child with a Skeletal Dysplasia is a mere 1-2%. So long story short, Aiden came the way he was supposed to come and David and I were lucky enough to get him.

Now because Aiden has the mutated gene, his offspring has a 50% chance of being born with a type of Skeletal Dysplasia. Melodie and Lydia do not have any chance of this happening to their future children. This means David and I have officially introduced a branch of little people into our family tree through Aiden.

Due to his x-rays, they still think the type of Skeletal Dysplasia he has right now is Spondyloepiphyseal Dysplasia Congenita (SEDc Dysplasia). There is a possibility this diagnosis can change in the future depending on how he grows and other related health problems that can arise, but he will always remain within the SED family of dysplasias. There are many different types of dysplasias within the realm of the SED family. There is SEMD, Kniest, or SED Strudwick - which is what Dr. Jen Arnold has - just to name a few. I believe his diagnosis will remain the same as he grows, but if it ends up changing it will only mean he has different physical barriers to over come. 

A lot of people have been asking me the following questions about Aiden lately. And really, thank you for doing so. I'm glad people in my life haven't been afraid to ask me about him and his future/diagnosis. Please, keep them coming. 

Will Aiden have any mental disabilities?

No. I mean, I'm ADD myself, and depression runs in both mine and David's families... But besides those "normal" things anyone can have, he has normal intelligence. He will be behind the first few years with reaching developmental milestones, and obviously his speech will be delayed due to his trach. But his limitations are purely physical. 

The collagen defect that causes his body to not be able to grow bone properly does also affect other cartilage in his body. Namely his ears and eyes. He will most definitely need to wear glasses in the future, although his eyesight is perfect right now. His hearing is also just fine, but he can develop some deafness in later years.

Will Aiden walk?

Perhaps! Most people do, but some require wheelchairs. He may require a few hip surgeries in his future to help with walking, and it will take him longer than most people to learn, but it is very possible. I see him walking eventually. But if not, you can still live a perfectly happy life from a wheel chair.

Why does Aiden wear that neck brace? How long will he need to wear it?

Unlike Achondroplasia (most common type of dwarfism) that only affects the long bones in your arms and legs, SEDc causes your spine to be more of a rectangle shape and therefore shorter as well. On top of that, the collagen mutation that creates this type of dwarfism makes it harder for his body to ossify bone. When we are growing in our mom's bellys, our bodies first made cartilage. That cartilage then hardens- or ossifies - and turns into bone. This mutation prevents his body from being able to do that properly. Thus his smaller arms, legs, rib cage, and spine.

If you were to take a single vertebrae from your back and look at it at a bird's eye view, that vertebrae would look like a circle with spokes coming out around it. On Aiden, the spokes are ossified, but the middle circle isn't yet. That, on top of the fact that his head is big compared to his smaller body and he doesn't have much of a neck from his spine being smaller, puts him at a high risk of being paralyzed. His spine just can't contain him right now. Putting his head back slightly isn't that big of a deal, but if his head were to suddenly fall forward, that soft spine wouldn't be able to handle the pressure and you could easily snap those nerves that keep him moving. So he wears his c-collar when he's out of bed or being moved around as a way to keep him safe.

He will most likely have a neck-stabilizing surgery in his future. They won't approach that idea until he is at least 2 years of age. There is a small chance his spine can ossify on it's own and he won't need to stabilize his neck, but I forsee that surgery happening. After surgery he will have to wear a c-collar while he heals, and after that he will no longer require one. 

Why did you guys get him a trach? Will he have it forever?

Because of his collagen mutation, his skeletal structure is as so:

His head, stomach, hands, and feet are the correct size for his gestational age.

His arms, legs, and chest are four weeks behind developmentally.

Because of this, his lungs are tiny and his rib cage is short and bell-shaped. To throw even more odds in the pot, he was also born a month early - which means his lungs were two months early. And don't forget he was born with hydrops, so his chest and lungs were full of and surrounded by fluid. All of that stacked against you gives your lungs a real dousy of a work out. He physically cannot breath enough on his own to keep himself alive right now. He needs the trach and ventilator to force his lungs open enough to ensure he breaths to live. 

The possibility of him needing this trach forever is a reality, but I don't think it'll happen. Eventually his body will slow down growing, and his chest size will catch up. It seems like other children with the same dwarfism have a trach until around the age of three. But if he does end up needing it long-term, they have an attachment for trachs that allows him to speak through it. Until then, David, the girls and I have started learning sign language.

How tall will he be?

It's hard to say. These skeletal dysplasia's are so relative to the individual person! Aiden could range anywhere from 3'5", to 5'. I almost wonder if he will end up being on the taller side. Compared to other families I've spoken to he is pretty long in length for his age. But his growth could suddenly slow down at any point as well. So really, we will just have to wait and see!

Will growth hormones help him?

No. His body wouldn't know what to do with all those hormones. Because his dysplasia stems from his body not being able to properly turn protein into bone, hormones won't do a thing. Giving him extra protein won't help either for the same reason of not knowing what to do with it. One of the biggest battles we have continually had are NICU dieticians that freak out about his size, and give him ridiculous amounts of protein added into his food to try and force his body to grow faster. But all they accomplish is giving Aiden a tummy ache and bad gas. (And a nice earful from mama and papa bear)

His body grows the way it can grow - at it's own pace. Nothing extra that you give him will help. And even if it did, I wouldn't give it to him. He is perfect exactly the way he is. 

I have such a huge feeling of relief now that we have a confirmation on his diagnosis. I knew that it would come back positive. I mean this in the nicest, most non-derogative way possible - he very clearly will be a little person. But something about having it on paper makes me feel like everything is going to be okay. The geneticists have thrown the term "lethal" out the window, and it feels like a ton of bricks have been lifted off my shoulders after getting that word out of my life. I've heard the word "lethal" for far too long. We are getting even closer to the light at the end of the tunnel each day.

1 comment:

  1. So beautiful!! I love the attitude you have with your perfect little man and the fact that you can approach surgery without thinking it's bad. People have often asked me how I could say I was born perfect the way I was yet have all of the reconstructive surgery I did. And I tell them there's a reason God made those surgeons, and I was meant to play the violin and do the things I want to do with my life. While my fingers were perfect then, they're still perfect plus they have the ability now to do what I need them to do. :)

    I'm so happy everything is starting to look up for you guys. Never stop fighting for Aiden! You two are his parents for a reason...