Annabelle moved to a specialized formula about two months ago called BCAD 1, it removed essential amnio acids from her nutrition and based on her labs, this formula should not work. Like a miracle & unexplained by all her doctors, it's working like a charm on the outside for Annabelle. She is thriving for the very first time in her life. She is growing for the first time, talking, walking, eating with an expletive, gaining weight, understanding and communicating with us, her GI system is actually working and she's sleeping like a normal two year old. Everything looks wonderful, she's bouncing full of energy and happy, she never stops eating.
We need to start working with a genetic dietician to get a better understanding and diet planned around this new nutrition were using. The problem is that we're working kinda backwards and a dietician cannot give us a perfect game plan without any diagnosis or explantation as to why this treatment is working in the first place. Our metabolic dietician asked two weeks ago that we repeat Annabelle's amnio acid labs to gain an updated perspective for how she's handling the formula. Those results came in this week...
To try to explain in detail what's happening is incredibly hard to understand, even for me and I've been doing hours and days of bio-chem research and studying every element of amnio acid chains and what they all mean. I've itemized her diet and broken it down to a science and the pieces are all over the place.. Still not providing any explanations for what we're seeing.
Annabelle's Amnio Acid levels were before normal or slightly below, 6 weeks later, they are beyond thru the roof. Certain levels should be in a 20-45range: Annabelle's were 18 before and are now 777. The coinciding level that should follow it's lead and be equally as crazy high, is 31. Some levels are very low, but the vast majority are thru the roof. Monday was a hard day for us, Monday was a very very frustrating day for Annabelle's team.
We've come a long way since Mondays news and have made many contacts. Doctors that are leading Metabolic research in CHINA have been contacted.. Converting emails between the languages has been quite the adventure for my doctor.
A Genetic clinic for specialty metabolic pediatrics at Children's Hospital of Phildelphia (CHOP) has agreed to discuss Annabelle's case and reviewed yesterday.
The research center in VA is currently leading our direction and we've made progress yesterday afternoon.
Here's what we *think* is happening.
Branched Chain amnio acids are extremely low. Because they're removed from her nutrition, the body has no way of getting them.. The result is that Annabelle's body had begun breaking down its own cells and muscle to produce the amnio acids her body needs to survive. It's an ugly process, but incredible at the same time to see what the body does to preserve itself and will deteriorate itself at the same time.
The issue is that her body is deteriorating at an astronomical speed and we need to figure out how to slow the process as quickly and safely as possible. The problem is that our options on how to do this are limited, and by limited, I mean - we have no clue what is safe or where the problem even is specifically to fix it.
We're working with two incredibly specialized centers in Richmond. They are working at lightening speed with our metabolic dietician. Together everyone has come up with our *fingers crossed* safest plan and change of her diet.
We are continuing on BCAD 1 and adding an additional formula called Anamix which contains protein. Both formulas are not nutritionally complete but together we hope they will provide what Annabelle's body needs to stop hurting itself, at least until we can determine a better plan.
Mixing this new concoction is seriously as intense as a biology lab experiment. It involves so many measurements, gram scales, various measuring cups, temperatures ratios and expiration time lines. I wish I could write what making her formula involves but it would take an hour and just make your eyes cross. Fortunately, I have the nurses making it for us right now and they will share their secrets before we leave as to how to uncomplicate this as much as possible.
We began Annabelle's feeds with the new formula mix today shortly after noon and so far she's tolerating them. Really, she's slept all day so it hard to say she isn't tolerating them too.. But I try to be optimistic any chance i can get.
Monday is a big day. There is a research clinic in PA for special complex children that study metabolic disorders in pediatrics and they want Annabelle's case. The lead physician and the director of the Metabolic Center, along with several doctors we are using in VA will be on the conference call Monday at 11am. I'm so excited, and so is our pediatrician. She is leading and coordinating this entire operation and I am so proud and honored to have her part of Annabelle's team. She's so amazing, I can't say that enough.
The next steps on the nutrition standpoint are to give this formula regimen a try, repeat labs every several days and balance the formula intake with her diet she consumed orally and monitor everything strategically. I pray with everything that by following this new game plan, that we are able to narrow down some pieces to the puzzle. We do know, for sure, that Annabelle's health and presentation is directly correlated with her nutrition. We just need to piece together that part to figure it out.
Call me Ashley, mom, chemist, biologist, doctor, nurse, er tech, nutritionist, geneticist, gastroenterologist, allergist, endocrinologist, neurologist, dietician, wife. I respond by any of the above mentioned names, unfortunately I only make the salary of the "Mom" position ;)
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