I know, I know, It's been over a month since I've written last. I've had good intentions of writing, but life has been a bit chaotic lately and it's been harder to keep things up to date. Heres a few pics of the family. Thank you Robin you did a beautiful job!
Alexa seems like she is bouncing back from her "difficult time" the last 3 months. She still has a long way to go, but we are seeing some improvements. She is now on some new medication for pain that seems to be working a bit better. Not perfect, but better than it was. The docs decided to put her on Neurontin which isnt generally used for the type of pain she has. It can be used for seizures or nerve pain, but they also use it in children who have a severe neurologic impairment who are experiencing pain with no known cause. We decided to give it a try, and guess what it worked!!! A little side benefit is that it can also help control her seizures, which she has been having more frequently. I would still like to find something to take the edge off her pain when it gets really bad, but this is definately an improvement.
Alexa has been losing weight since her surgery in April. She lost almost 2 lbs... On a kid her size it really shows. She started developing wrinkles where her skin would just sag, like where her bum used to be, under her arms, ect. It started feeling like she was fading in front of us. I called her GI doctor a few times to see what they could do, but it was almost like they didnt understand the severity of it. We saw the GI specialist on Monday. He was so concerned about her weight... She now needs to be on her tube feed 22-24 hours a day instead of the normal 18. He wants to see her back in 2 weeks, hopefully by then she'll have gained a bit more. It's frustrating because I was trying to tell them my concern for a couple of months now, and only when he actually saw her did he do something about it. Looking at the growth scale she now is about an inch below the chart. They are not sure why she isnt gaining. One of the symptoms of noonan's is failure to thrive, but her doctor doesnt think it's to that severity. One theory is that her body isnt getting enough calories to function, and gain. Another theory is that she isnt able to absorb the calories and use them properly. If Alexa hasnt started to gain by the time we see her doctor the next step will be a central Venous line and TPN (total parenteral nutrition). This is scary for me because its a host of many other issues, namely infection.
Which brings us to the appointment we had last Friday with a metabolic specialist. He's wonderful... We were thinking for a while that maybe she had a mitochondrial disorder, but that is looking less likely now. He has a few ideas as to what might be causing all her issues. I dont think I can recap everything properly, just because there was sooo much information. I'll try to summarize as best I can. One possibility is that she has a problem with her sugar breakdown and wastes. That things are building up, causing the worsening of her symptoms. Another idea is that she has a problem with a section of her DNA. So her DNA may have an entire area where it isnt put together properly or maybe missing things. They cant test for that right now, so right now they are trying to match up her symptoms with disorders they know about. However its like looking for a needle in a haystack. Each test only looks at the one disorder and takes time and costs thousands of dollars. So its a very lengthy process. There is a test that is just coming out now that looks at the entire DNA and can pick up abnormalities with in the entire DNA sequence. They are just in the trial stage for this. They talked to me about having Alexa go into this trial. I was all on board with this, and maybe we can finally get some answers.
I dont know if I mentioned before that ALexa is now involved with CCS (complex care services) which gives us a doctor to connect the dots between all her specialists. It's been a godsend so far. Anyway since starting to see them a month back they have scheduled us 8 appointments within 5 weeks. On top of all her normal appointments. Which means we've been very busy and spending a lot of time in Boston.
Although Alexa has been having a rough patch lately, doesnt mean she's suffered with her spunky personality any. Her favorite thing in the world is to visit animals. We went away for a week and everyday we visited this little farm. We had so many other things we wanted to do, but thats ALL Ali wanted. She'd wake up and say "moo" meaning the baby cow. They had chickens that would come eat at our picnic table she thought this was hilarious. She's learned a new dance move. We tell her to shake her booty and she bends over and her whole body sways side to side. Really it is quite adorable. She started putting a few words together. like "no daddy, no mommy and exa ants (Alexa wants)" these are her favorites. She loves to tease people, but she is so sensitive you just have to look sad and she'll come give you a kiss. I had a scratch on my ankle and everday shed kiss my owie better.
Its been an emotional ride the last couple of months. Alexa has had a few ups and a lot of downs. We're hoping to get her to a stable, pain free place. Thank you for bearing with me especially after my long hiatus I'm really going to try to write more frequently.
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| hanging with her cousins from Canada |
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| giving "Barney" a kiss |
Alexa seems like she is bouncing back from her "difficult time" the last 3 months. She still has a long way to go, but we are seeing some improvements. She is now on some new medication for pain that seems to be working a bit better. Not perfect, but better than it was. The docs decided to put her on Neurontin which isnt generally used for the type of pain she has. It can be used for seizures or nerve pain, but they also use it in children who have a severe neurologic impairment who are experiencing pain with no known cause. We decided to give it a try, and guess what it worked!!! A little side benefit is that it can also help control her seizures, which she has been having more frequently. I would still like to find something to take the edge off her pain when it gets really bad, but this is definately an improvement.
Alexa has been losing weight since her surgery in April. She lost almost 2 lbs... On a kid her size it really shows. She started developing wrinkles where her skin would just sag, like where her bum used to be, under her arms, ect. It started feeling like she was fading in front of us. I called her GI doctor a few times to see what they could do, but it was almost like they didnt understand the severity of it. We saw the GI specialist on Monday. He was so concerned about her weight... She now needs to be on her tube feed 22-24 hours a day instead of the normal 18. He wants to see her back in 2 weeks, hopefully by then she'll have gained a bit more. It's frustrating because I was trying to tell them my concern for a couple of months now, and only when he actually saw her did he do something about it. Looking at the growth scale she now is about an inch below the chart. They are not sure why she isnt gaining. One of the symptoms of noonan's is failure to thrive, but her doctor doesnt think it's to that severity. One theory is that her body isnt getting enough calories to function, and gain. Another theory is that she isnt able to absorb the calories and use them properly. If Alexa hasnt started to gain by the time we see her doctor the next step will be a central Venous line and TPN (total parenteral nutrition). This is scary for me because its a host of many other issues, namely infection. 
Which brings us to the appointment we had last Friday with a metabolic specialist. He's wonderful... We were thinking for a while that maybe she had a mitochondrial disorder, but that is looking less likely now. He has a few ideas as to what might be causing all her issues. I dont think I can recap everything properly, just because there was sooo much information. I'll try to summarize as best I can. One possibility is that she has a problem with her sugar breakdown and wastes. That things are building up, causing the worsening of her symptoms. Another idea is that she has a problem with a section of her DNA. So her DNA may have an entire area where it isnt put together properly or maybe missing things. They cant test for that right now, so right now they are trying to match up her symptoms with disorders they know about. However its like looking for a needle in a haystack. Each test only looks at the one disorder and takes time and costs thousands of dollars. So its a very lengthy process. There is a test that is just coming out now that looks at the entire DNA and can pick up abnormalities with in the entire DNA sequence. They are just in the trial stage for this. They talked to me about having Alexa go into this trial. I was all on board with this, and maybe we can finally get some answers.
Although Alexa has been having a rough patch lately, doesnt mean she's suffered with her spunky personality any. Her favorite thing in the world is to visit animals. We went away for a week and everyday we visited this little farm. We had so many other things we wanted to do, but thats ALL Ali wanted. She'd wake up and say "moo" meaning the baby cow. They had chickens that would come eat at our picnic table she thought this was hilarious. She's learned a new dance move. We tell her to shake her booty and she bends over and her whole body sways side to side. Really it is quite adorable. She started putting a few words together. like "no daddy, no mommy and exa ants (Alexa wants)" these are her favorites. She loves to tease people, but she is so sensitive you just have to look sad and she'll come give you a kiss. I had a scratch on my ankle and everday shed kiss my owie better. 
