Monday, August 17, 2009

Pittsburgh Summary

So much happened that I don't know where to begin. I will start off with a big THANK-YOU to all of the doctors and nurses we met on this trip! God never ceases to amaze me! This week was full of answered prayer!
Ana's heart looks great!!! They could not find a leaky valve! She does have low blood pressures, but I will get to that later. No cardiology follow-ups for a year!
Ana's eyes look perfect! The eyes will also be checked again next year.
These guys spent well over an hour with us! Ana has a low "natural killer T-cell" count. They know it is not causing a huge problem because she has never been in the ICU with CMV, Chicken Pox, or Herpes... which is what we would see if the "natural killer" cells were not functioning. However, there isn't enough research to know what part they might be playing in the frequent infections that Ana deals with. They also talked to us about Sage. They officially diagnosed the Food Protein-Induced Enterocolitis Syndrome! Next year when we return, Sage will be admitted for a food trial for the rice! We are very excited to get this done. They said she should outgrow it by the age of 5!!!
We spent lots of time with GI! They recommended we cycle feed Ana at a higher rate. It is not something we have to do, but it is an option. With a higher rate there is a risk of more leaking, so we are hesitant to try it and so was neurology. Right now, we just want Ana gaining and growing! They also recommended cycling a drug called Pariactin. Ana was on this before for abdominal migraines. The GI recommended two weeks on and two weeks off for an extended period of time... This was also something that neurology did not want us to attempt right now. Ana has issues with meds and absorption and neurology wants to be very conservative in what meds are given. GI is also talking with our local doctors about TPN during crisis... I will get into this part more after the neuro update.
We spent over 5 hours this week with Dr. G! She was everything we were hoping for and more! Dr. G did tons of labs. Several of them are still pending. What she has found so far is a low T-cell count, a low BUN, and a low creatinine. I have already explained the t-cell issue, and now I will attempt to explain the others. BUN and creatinine are directly related to the Urea Cycle. With them both being consistently low, it could mean that Ana has a urea cycle disorder. Labs were done to further investigate this, and we should know something soon. Dr. G got Ana's final mito report while we were there. The mtDNA mutations that Ana has are homoplasmic in her and in me. Basically meaning that if they were causing the disease, I would also be severely affected. Dr. G wants the nDNA sequencing to be done, and she will be talking with Dr. S about this in the next few days. Dr. G feels that Ana could have a disease that is causing the mitochondrial disorder and she is exploring every avenue. Urea Cycle Disorder will cause mitochondrial dysfunction and vice versa... kind of like the chicken or the egg... no one is quite sure which one comes first. Dr. G is also completely ruling out Cystic Fibrosis. The last test needed to rule it out is a fecal fat test, and that was done while we were there. Those results are also pending along with several other vitamin and enzyme labs. Lastly, Dr. G feels that Ana's other symptoms are due to Dysautonomia. Other symptoms being temperature problems, low blood pressure, chest pain, headache, low blood sugar levels, dysmotility, etc... This explains alot!
The New Plan:
Avoid hospital stays as much as possible! The more Ana is in the hospital, the more she is exposed to infections, the more she is exposed to stress, the more the other kids have anxiety, the more financial strains on us, the more missed work for dad, etc... So, the plan is to treat at home as much as possible. The leg pain will be treated with an I.V. Keppra bolus. No more listening to her scream all night in pain! When Ana goes through a metabolic crisis, we will give her I.V. Keppra, call the nurse in Pittsburgh, and get the orders to start I.V. fluids immediately. Then, the nurse will notify the team and she will send a local nurse to the house for labs. As soon as the labs are back, they will work closely with the doctors in Charleston to get the TPN recipe called in to the pharmacy and delivered to us. Ana's episodes typically only last a week or two. After they are over, we will be back on tube feeds and off of TPN until the next episode. The I.V. fluids and I.V. Keppra have already been ordered and should be here today. We will keep these things on hand in case she has a crisis. The TPN is still being ironed out. The Pittsburgh doctors are talking with our local doctors to see who will write the TPN orders when they are needed. TPN has to come from in-state doctors because of all the labs that have to be done while on it. We are praying that the TPN issue will be resolved and in place by the end of the week. We are so excited about being able to stay home!!! Now, if Ana gets a high fever, we will have to go into the hospital. This home plan will only work during metabolic crisis.
I think that is all I have for now. I promise to update when we have the lab results.
Thank you for all of your prayers!

1 comment:

  1. Thanks for the update Emmy, we love you and Ana so much and continue to pray for you both.