Hope for Life

The silence here at night is deafening. Once in awhile a child screams out in pain and I am numb to it. There was a time I would have cringed at that sound, my heart would have ached for them. Not now. Now I think 'thank god that child has the strength to scream, the energy is there, they are alive.' Alive...not well, but alive. I took too much for granted, now I need hope for life. Stay strong little man...you are my hero.

Tuesday, October 19, 2010

The Waiting Game...

The worst part of all of this (besides the disease itself) is the waiting. Hands down. Ayzac has a rare combination of problems right now that is making it harder than usual for doctors to diagnose him. The doctors have told us they cannot find another case in medical studies of an infant with these problems combined. Furthermore what is baffling them is how he is presenting these problems. They are not sure if he has three separate issues or if it's all part of a bigger picture. They are hoping for the latter, thus less treatment required.

#1. Lactic Acidosis. This is a severe disorder caused by an increase of acid in the blood much like the lactic acid we create when we exercise. This is a common attribute of mitochondrial disease. It makes Ayzac's muscles (not just arms and legs but keeping in mind the tongue, heart and eyes among others) very tired. The increase in acid can cause brain problems such as dementia and retardation, heart problems including but not limited to heart failure, stroke like seizures and shock, and problems with the reflexes needed to eat and swallow properly to name a few. Ayzac's acidosis is very unique in that it increases incredibly fast and also recovers quickly as well. Usually this takes days but Ayzac's levels have gone from 0.9 to 17.0 back to 3.3 in the span of 8 hours. (Normal lactate is between 0.5-2.2) Some of the family have witnessed what a high lactate does to Ayzac.

On Saturday the 25th to Sunday the 26th of September Ayzac struggled to survive due to an acid level of 37 which caused him to have a severe 'episode' where his body started to give up. Doctors put him on life support including intubation to take over his breathing and dialysis to take over his kidney function. Against all odds he survived and is still recovering. Usually a metabolic cocktail of the right diet and nutrients will help prevent acidosis but Ayzac likes to be special so this is not helping in his case.

 #2. Hormone deficiency. A mystery symptom or separate problem? Ayzac has very high potassium and very low sodium. High potassium can cause heart failure and low sodium can cause severe dehydration. There are a few different hormones that regulate sodium and potassium that are produced by the adrenal glands. His adrenal function seems to be fine so the doctors are confused by what is causing this. They give him extra salt in his diet and they give him hydro cortisol to lower his potassium. The hydro cortisol causes high blood pressure so he is also on meds for that. His levels have stabilized the last couple of days but they still need to get to the root of the problem.

#3. Hemoglobin (Red blood cells). Doctors don't know much about this either. For some reason his red blood cells die off and his body doesn't like to make new ones. When this happens his hemoglobin drops and if it goes too low he needs a transfusion. He has tested borderline positive for hereditary spherocytosis (where the blood cells are round instead of oval and therefore pop and breakdown easily), but since mine and Zach's blood results did not show a full positive result (nor did grandmas) they have ruled this out for now. They are currently doing tests for other things that could cause this and we might get results for that by Thursday.

So far Ayzac has had extensive blood work (and by extensive I mean an absolutely ridiculous amount, so much so that all his veins in both arms collapsed and his feet look like pincushions) for gene testing, hormone imbalances, hemoglobin deficiencies, organ function, cellular abnormalities and more.He has had three blood transfusions. He has had a skin biopsy, they have sent the skin to be fed and nurtured so that it multiplies the existing cells for continuous testing.

He has had several ultrasounds now on his head, chest, and every organ in his abdomen. He's had ECG's and EEG's. He also has urine and stool samples taken everyday. He has his vital signs taken every two hours (blood pressure, temperature etc...) and his heart rate and blood oxygen levels are monitored all day. His diapers even have to be weighed! He has a nasogastric (NG) tube that he is fed and given his meds through (18 medications and vitamins a day so far) and a peripherally inserted central catheter (PICC line) to hook up IV to and also to take blood work from sometimes so he does not get poked too much. Well...I think I've covered it all.

If you have any questions please post them and I will answer the best I can. Thank you to everyone for the support and keep sending your messages and thoughts of love for our wild little Mitoman!

1 comment:

  1. Aysac is the luckiest little man in the world to have a mom like you in his corner! I can only guess what a nightmare this must be for all of you! I think about you guys every day and pray that they WILL find a solution, but it would be nice if they didn,t keep you in the dark, something is better than nothing!! Hugs, stay strong ;)L