I can't believe I am writing this post. I honestly dreaded this day. I guess partly because I have been in denial. I didn't want it to be true and sometimes it's easier to just run away and not face things head on. Although I have been in denial, I have always known deep inside the real truth.
About two weeks ago, our family received what is probably the most life changing news we will ever receive. Londyn has an extremely rare syndrome that makes her just about one in a billion. We have been told over and over again that she just had a stroke for some crazy reason and there was nothing more to it. We even did some genetic tests that all came back normal. Our geneticist was convinced that we would never know why Londyn had a stroke. He said he didn't need to see us again. I kept having the same nagging feeling that there was something more to it. I insisted that she see the geneticist at least one more time. When I took her back we met with her neurologist and the geneticist together. They decided that she definitely had something more than just a stroke. The geneticist mentioned a really rare syndrome that he thought Londyn fit perfectly under. He thought it would be crazy if she had it because it is so extremely rare, but he thought we should definitely test her for it. I went home and did my research. I knew this was what Londyn had. It was like I was reading her life story. About ten days later I got a call from our geneticist. He let me know that the test had come back and that Londyn did indeed have the very rare condition.
Londyn is the face of what is known as Ehlers Danlos Syndrome Type VIa.
What in the world does that mean? We are still trying to figure out exactly what it means for Londyn but we have a pretty good idea of what the typical is. Basically, she has one main problem. She has a connective tissue disorder. This is the way our amazing geneticist described it to us-- Our bodies are full of collagen. In fact, the only place in our body that doesn't contain collagen is our brain. Within the collagen, we should have three strands of collagen that are connected together every couple of inches by a chemical called lysine. Londyn's body produces the wrong kind of chemical to bond her collagen. It is a very weak bond and makes her very floppy. She is also very flexible because of this. Any of you who have spent time around her have seen she can do some pretty freaky crazy stuff with her body. The dancer in mean thinks its AWESOME!!! For some reason the syndrome also makes them very tall and very skinny. They aren't sure why that is, but she definitely fits that prototype! Because their collagen isn't able to hold any of their bones in place their bones dislocate all the time. Some patients say their bones dislocate hundreds of times a day. The syndrome comes along with very bad kyphosis (a form of scoliosis). Most of the patients end up having a spinal fusion (the same surgery I had on my back). We are praying that Londyn won't have to undergo that surgery. It also includes what is called a brachial plexus palsy on one of their arms. Londyn has it on her right arm. The syndrome also causes developmental delay physically. They tire easily because of how hard their bodies have to work just to do normal every day stuff. The scary stuff: it makes their arteries weak. They are always at risk for their arteries bursting. This explains perfectly why Londyn had a stroke. Their eyes are very weak because our eyes are made out of collagen. This means they are at risk for retinal detachment if there is any kind of blunt force trauma to their eyes.
Now that we have the scary stuff out of the way, let me tell you the happy sunshine part of this. People with this syndrome live fairly normal lives. They walk, they talk, they get married, they have jobs. It does not affect them at all cognitively; in fact, they have actually found that for some reason they are extremely smart people. We have seen that with Londyn. She is incredibly smart. The syndrome affects babies a lot upfront and then they typically get better and better. This knowledge has brought us great comfort even in all of the uncertainty. We are trying a treatment that some VIa patients have responded to. It is just high doses of Vitamin C. How crazy is that? They said they think that the Vitamin C acts as a bonder and connects the collagen. Please join us in praying that this will be the answer for Londyn.
What we have been up to since then: Londyn instantly became a heart patient the moment we got her diagnosis. We took her to see the cardiologist on Monday. They did an echocardiogram to get a good idea of how her heart is. We were absolutely elated to find out that her heart is perfect. What a huge relief and blessing.
We went to see the ophthalmologist last Thursday to decide what we should do about her eyes. They dilated her eyes to see how her vision is. She miraculously has great vision! The doctor just recommended that she wear protective glasses when she starts walking around.
Today we went to Shriners Hospital to check her feet, her hips, her back and her hand. We had XRAY's done. Her feet are great. Her hips are perfect. So far her back is looking really good. She does have kyphosis, but her doctor said he is very hopeful that she may be able to work it out on her own without surgery!! How incredible would that be? Please pray for us. As far as her hand goes we have to see another specialist for that.
Overall, we are feeling extremely blessed for all that we have. Is it tough? Absolutely. Somedays I feel like I am going to break but then I quickly remember how blessed I am to have a beautiful little girl and that makes those feelings of heartache, disappointment, and anxiety seem so much easier to bear. I am determined to continue advocating for Londyn so that she will have the absolute best life that she can. She is amazing. She is absolutely beautiful and adorable. She is the happiest baby I have ever known. She takes my breath away every day. We are so lucky.
We love you all!!
