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!!
Thursday, March 20, 2014
Saturday, January 4, 2014
What a year!!!
It has been a little while since I have blogged... (Well sort of...) I have wrote some blog posts, but I have not published them. I felt like they were things that I should just have for myself. I do however want to update everyone on what has been happening in our lives the past few months.
2013: The hardest, most painful, trying and sleepless year of my life; yet also the most beautiful, miraculous, happiest, most triumphant year of my life. At this exact time of year last year, I had absolutely no idea what I had coming for me. I am incredibly grateful for the beautiful heartbreaks that I have been given. They have made me the person that I am today and I could not be more grateful.
Some updates:
Londyn is no longer wearing her helmet! Its a good thing and a not so good thing. Her head was not growing anymore so her neuro-plastic-surgeon told us to not have her wear it anymore. The helmet did improve the shape of her head and we are very happy with that, it just didn't correct as much as we were hoping. We will be meeting with the plastic surgeon later on this month to discuss further options.
I think the last time that I posted Londyn had an NG tube (feeding tube in her nose). On November 8th Londyn had surgery to have a G tube placed (a feeding tube surgically placed directly into her stomach). Her doctors were sure that this would fix all of her problems. She would gain the weight she needed, she would start eating all of her food by mouth, and she would stop throwing up. Sounds fabulous right?? It did to us too. However, that is not at all what happened. Londyn now throws up on average 3 times a day. Sometimes more, sometimes less. She refuses to eat anything by mouth. Her weight gain is a hit and miss (probably because she is throwing up). The most frustrating thing about it is nobody knows why. Her GI doctors basically said they have done all they can do for her and we are on our own. We now have a feeding therapist that comes in and works with Londyn on trying to get her to allow us to put things in her mouth. She has said that as long as Londyn keeps throwing up everyday she will never eat by mouth. I am waiting to get her into a different GI doctor who supposedly has a different approach to things than her other doctors. If that doesn't go well we will be looking into taking Londyn to a world renowned doctor in either Colorado or Arizona. I am not willing to give up. There is clearly something wrong and we need to figure out what the problem is not just shake our shoulders and say oh well. I feel so horrible for Londyn. I think throwing up is the worst thing ever, and to throw up every single day is just miserable for all of us.
Londyn still has therapists that come to our house about 5 times a week. They are amazing and I am so thankful to have them. About a month ago I asked them if it would be possible to get Londyn sitting on her own before her 1st birthday. Both of them said that probably wouldn't be possible but that they would help me do the things I needed to do in order to get her closer to sitting. I'm not sure if you all caught this on facebook, but on December 20, Londyn sat up on her own for the very first time for about 10 seconds!! It was an absolute miracle. I sat and cried as I saw the picture and thought about the conversations I had had not long before. We are so blessed. Over the last two weeks I have seen tremendous improvements. Londyn is getting so strong. She has amazing head control. Her back is getting stronger. She loves to sit in her high chair and play with her toys. She continues to beat the odds placed on her every single day. This girl will not be told how her life is going to play out.
Something major that happened since my last post: I took Londyn to see a geneticist. Some doctors believed that her stroke could have been caused by something genetic. This was very nerve wracking and upsetting to us. It literally kept me awake for many many nights. When I took her to see the doctor he thought that all of her symptoms could be explained by the stroke. He did however want us to test her for two different conditions. We were only able to do one of the tests (our insurance wanted us to pay $4000 for the other test. OUTRAGEOUS.) After researching the condition that we were testing her for I was completely sick. She fell into a lot of the categories and it sounded a lot like Londyn. If she were to have this condition, there would be a 25% chance that our other children would have this same condition. I constantly felt anxious. It was awful. I couldn't sleep at night. After waiting for an incredibly long 5 weeks we finally received the results. Londyn DOES NOT have that condition!!!!!! I cannot even begin to tell you the relief that I felt when I finally got the results. I was finally able to sleep once again.
Londyn continues to be the happiest baby I have ever known. She is constantly smiling, giggling, and entertaining herself. She is absolutely adorable. She now has two bottom teeth (which I think are just about the cutest things I have ever seen). She loves music and she loves to watch my dancers dance (which absolutely thrills me.) Her favorite song is "What Does the Fox Say?" I know... shoot me now. But it is the cutest thing ever. You turn that song on and she just starts dancing. She has developed this absolute cutest personality EVER. I am so madly in love with her. Each day I am reminded how lucky I am to have her. She is amazing and we are so blessed.
Thank you all for your love and support. We had an incredible Christmas thanks to some amazing friends of mine. We are so thankful to all of you. Please keep praying for Londyn. I know that she is doing as well as she is because so many people believe in her and support and love her. I love you all!!
Til next time.
2013: The hardest, most painful, trying and sleepless year of my life; yet also the most beautiful, miraculous, happiest, most triumphant year of my life. At this exact time of year last year, I had absolutely no idea what I had coming for me. I am incredibly grateful for the beautiful heartbreaks that I have been given. They have made me the person that I am today and I could not be more grateful.
Some updates:
Londyn is no longer wearing her helmet! Its a good thing and a not so good thing. Her head was not growing anymore so her neuro-plastic-surgeon told us to not have her wear it anymore. The helmet did improve the shape of her head and we are very happy with that, it just didn't correct as much as we were hoping. We will be meeting with the plastic surgeon later on this month to discuss further options.
I think the last time that I posted Londyn had an NG tube (feeding tube in her nose). On November 8th Londyn had surgery to have a G tube placed (a feeding tube surgically placed directly into her stomach). Her doctors were sure that this would fix all of her problems. She would gain the weight she needed, she would start eating all of her food by mouth, and she would stop throwing up. Sounds fabulous right?? It did to us too. However, that is not at all what happened. Londyn now throws up on average 3 times a day. Sometimes more, sometimes less. She refuses to eat anything by mouth. Her weight gain is a hit and miss (probably because she is throwing up). The most frustrating thing about it is nobody knows why. Her GI doctors basically said they have done all they can do for her and we are on our own. We now have a feeding therapist that comes in and works with Londyn on trying to get her to allow us to put things in her mouth. She has said that as long as Londyn keeps throwing up everyday she will never eat by mouth. I am waiting to get her into a different GI doctor who supposedly has a different approach to things than her other doctors. If that doesn't go well we will be looking into taking Londyn to a world renowned doctor in either Colorado or Arizona. I am not willing to give up. There is clearly something wrong and we need to figure out what the problem is not just shake our shoulders and say oh well. I feel so horrible for Londyn. I think throwing up is the worst thing ever, and to throw up every single day is just miserable for all of us.
Londyn still has therapists that come to our house about 5 times a week. They are amazing and I am so thankful to have them. About a month ago I asked them if it would be possible to get Londyn sitting on her own before her 1st birthday. Both of them said that probably wouldn't be possible but that they would help me do the things I needed to do in order to get her closer to sitting. I'm not sure if you all caught this on facebook, but on December 20, Londyn sat up on her own for the very first time for about 10 seconds!! It was an absolute miracle. I sat and cried as I saw the picture and thought about the conversations I had had not long before. We are so blessed. Over the last two weeks I have seen tremendous improvements. Londyn is getting so strong. She has amazing head control. Her back is getting stronger. She loves to sit in her high chair and play with her toys. She continues to beat the odds placed on her every single day. This girl will not be told how her life is going to play out.
Something major that happened since my last post: I took Londyn to see a geneticist. Some doctors believed that her stroke could have been caused by something genetic. This was very nerve wracking and upsetting to us. It literally kept me awake for many many nights. When I took her to see the doctor he thought that all of her symptoms could be explained by the stroke. He did however want us to test her for two different conditions. We were only able to do one of the tests (our insurance wanted us to pay $4000 for the other test. OUTRAGEOUS.) After researching the condition that we were testing her for I was completely sick. She fell into a lot of the categories and it sounded a lot like Londyn. If she were to have this condition, there would be a 25% chance that our other children would have this same condition. I constantly felt anxious. It was awful. I couldn't sleep at night. After waiting for an incredibly long 5 weeks we finally received the results. Londyn DOES NOT have that condition!!!!!! I cannot even begin to tell you the relief that I felt when I finally got the results. I was finally able to sleep once again.
Londyn continues to be the happiest baby I have ever known. She is constantly smiling, giggling, and entertaining herself. She is absolutely adorable. She now has two bottom teeth (which I think are just about the cutest things I have ever seen). She loves music and she loves to watch my dancers dance (which absolutely thrills me.) Her favorite song is "What Does the Fox Say?" I know... shoot me now. But it is the cutest thing ever. You turn that song on and she just starts dancing. She has developed this absolute cutest personality EVER. I am so madly in love with her. Each day I am reminded how lucky I am to have her. She is amazing and we are so blessed.
Thank you all for your love and support. We had an incredible Christmas thanks to some amazing friends of mine. We are so thankful to all of you. Please keep praying for Londyn. I know that she is doing as well as she is because so many people believe in her and support and love her. I love you all!!
Til next time.
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