That day keeps flashing back in my head. Still sore, tired from giving birth less than a day ago, worried and walking towards a bed and seeing my perfect little girl covered in tubes, lines, leads, not moving. I remember the sad faces of the nurses that kept asking me if I had "support". I was so confused, why were they asking that. Why do they keep asking my religious affiliation? We didn't know what was going on for five days. Those were the worst five days of my life. I didn't sleep, I barely ate, barely drank. I really don't remember much of it. Days bled into nights as I clung to the hope that everything would be ok in the end. Once we got our diagnosis for Charlie of GA2/MADD, I scoured the internet for every shred of information I could get. I felt almost if I knew everything there was to know, then maybe I could help her, maybe she had a better chance. However, everywhere I turned I got the same cold information:"Unfortunately, some newborns that develop severe symptoms during the first days of life usually do not survive for more than a few weeks or months because they have the very severe form of the disorder, called Neonatal Glutaric Acidemia Type-II."
I cried over this statement more times than I could count. Until I found the fodsupport website and the facebook support group for GA2, I didn't know there were other kids diagnosed as newborns and are still alive and doing well. I have met an amazing group of people who are raising kids with GA2. It is not necessarily a death sentence. No doubt it is an incredibly terrible disorder with long lasting health effects (she will be very high risk for heart and liver issues among other things) but I have faith that gene therapy is the answer and we just have to hold out till it becomes a possibility for us.
The purpose of this blog is I want to show the family side of GA2. I really connected with other FOD (fatty oxidation disorder) parents who blogged about their trials and tribulations in having a child with a similar disorder and I found comfort in reading stories about other parents with GA2 kids. So this is my small way of giving back. I will post helpful materials, information and stories about Charlie and our journey with GA2. Feel free to email me if you have any questions or just want to connect with a parent with GA2/MADD.
Hi I have had ga2/madd since birth but never found out till I gave birth wen i was sixteen my body just came to a hault I couldn't walk lift my head my body had no reflexes I went into a coma I was nine stone down to four stn. Docters proffesors was all dumfounded didn't have a clue. My family was to prepare for the worst. Until docters had something on internet in america they put me on a riboflavin drip and carnitine drip within a wk I was being learned to walk again i couldn't even go to the bathroom myself if been in a coma nine times and died this is a very scary illness my nephew died at 5 1/2 month's with it.
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