I'm not crazy...
I want to start out by saying that I'm not looking for sympathy - I just needed to put this out there so you all will know why I haven't been around much and haven't been participating as much as I would like to. I just haven't been very social.
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I knew there was something wrong. DAMMIT!
We have been through a nightmare to get this diagnosed, but here it is...
Payton has a mild form of Glutaric Acedemia Type 2 (GA2) or Multiple acyl CoA Dehydrogenase Deficiency (MADD). What this means is that he is not breaking down proteins and fats very efficiently and is urinating them out instead of using them to gain weight. It is a rare genetic/metabolic disorder that can be fatal if not caught early enough and treated. http://www.fodsupport.org/ga2.htm
There is no cure, but the devistating effects of it (brian damage, seizures, ticks, floppyness, etc.) can be kept at bay with supplimentation of carnitine and riboflavin. The addition of these two things will break down fats and proteins so he can gain weight.
This on top of the GERD and the colic. Oh... and he has a floppy epiglottis which will possibly need surgery to correct. I also found out that I had placental insufficiency and basically he stopped growing in utero in August. That was horrible to find out...
I am so at the end of my rope. I have been accused of starving my child and of child abuse and neglect. Munchausen syndrome by proxy has been tossed around. I swear it is the absolutely WORST feeling ever to know you are doing EVERYTHING in your power to make your child gain weight only to be scrutinized like that. I have broken down too many times to count. I feed this kid every two hours during the day and every four hours at night along with rice cereal. He has everything a baby needs and more. He wants for nothing. I've put over three thousand miles on my car diving back and forth to Children's Hospital and all of his other doctor appointments. I gave up my $60,000.00 a year career to dedicate my life to figuring out what is wrong with this child. I understand that the doctors have to ask questions like that because there unfortunately is such a high incedence of it. And (case in point)... people like a girl on a mom's website I go to who may be starving her children to sell WIC formula on ebay which I find apallingly disgusting. All I can say is thank goodness for Zoloft. Sanity through chemicals.
So... I was right. I had to be presistent with the doctors to find out the answers. When I felt we were being blown off I had to fight even harder to get what I needed. I had to ask question after question and I had to educate myself to figure out what questions to even ask. I'm worn down and frazzled. But I'm glad that we are beginning to get this all figured out. I'm sure this is not the end of it, but at least we're on the right track.
I have to add that the team of doctors I have been working with are amazing. I'm so glad that I am able to utilize some of the best doctors in the country. They have been wonderful. I just had to find the right ones. I'm very glad Payton's pediatrician is such an advocate for him (and for me). I would be back at square one without him. I think I talk to him more than I talk to my own mother!
All this being said... Payton is the light of my life. I love him so much. I never thought I would give up so much for somebody and not even care. I don't even remember life before he was born. He is getting bigger and stronger every day because of me and there is no better feeling than that in the world.
He LOVES rice cereal!!!
Here is how much he has grown. The blue outfit is what he came home from the hospital in and the green one is wha
t he fits into now.
-------------------------------------------------------------------------
I knew there was something wrong. DAMMIT!
We have been through a nightmare to get this diagnosed, but here it is...
Payton has a mild form of Glutaric Acedemia Type 2 (GA2) or Multiple acyl CoA Dehydrogenase Deficiency (MADD). What this means is that he is not breaking down proteins and fats very efficiently and is urinating them out instead of using them to gain weight. It is a rare genetic/metabolic disorder that can be fatal if not caught early enough and treated. http://www.fodsupport.org/ga2.htm
There is no cure, but the devistating effects of it (brian damage, seizures, ticks, floppyness, etc.) can be kept at bay with supplimentation of carnitine and riboflavin. The addition of these two things will break down fats and proteins so he can gain weight.
This on top of the GERD and the colic. Oh... and he has a floppy epiglottis which will possibly need surgery to correct. I also found out that I had placental insufficiency and basically he stopped growing in utero in August. That was horrible to find out...
I am so at the end of my rope. I have been accused of starving my child and of child abuse and neglect. Munchausen syndrome by proxy has been tossed around. I swear it is the absolutely WORST feeling ever to know you are doing EVERYTHING in your power to make your child gain weight only to be scrutinized like that. I have broken down too many times to count. I feed this kid every two hours during the day and every four hours at night along with rice cereal. He has everything a baby needs and more. He wants for nothing. I've put over three thousand miles on my car diving back and forth to Children's Hospital and all of his other doctor appointments. I gave up my $60,000.00 a year career to dedicate my life to figuring out what is wrong with this child. I understand that the doctors have to ask questions like that because there unfortunately is such a high incedence of it. And (case in point)... people like a girl on a mom's website I go to who may be starving her children to sell WIC formula on ebay which I find apallingly disgusting. All I can say is thank goodness for Zoloft. Sanity through chemicals.
So... I was right. I had to be presistent with the doctors to find out the answers. When I felt we were being blown off I had to fight even harder to get what I needed. I had to ask question after question and I had to educate myself to figure out what questions to even ask. I'm worn down and frazzled. But I'm glad that we are beginning to get this all figured out. I'm sure this is not the end of it, but at least we're on the right track.
I have to add that the team of doctors I have been working with are amazing. I'm so glad that I am able to utilize some of the best doctors in the country. They have been wonderful. I just had to find the right ones. I'm very glad Payton's pediatrician is such an advocate for him (and for me). I would be back at square one without him. I think I talk to him more than I talk to my own mother!
All this being said... Payton is the light of my life. I love him so much. I never thought I would give up so much for somebody and not even care. I don't even remember life before he was born. He is getting bigger and stronger every day because of me and there is no better feeling than that in the world.
He LOVES rice cereal!!!
Here is how much he has grown. The blue outfit is what he came home from the hospital in and the green one is wha
t he fits into now.
posted by Mama Moon | 8:47 AM
3 Comments:
I need your website you listed. My son has a very similar problem which went diagnosed as reflux, autism, severe feeding disorder, etc. He continued to have recurrent episodes of vomiting and lost weight until we put in the g-tube. Now he is steading gaining, but we have no definitive diagnosis, just a supposition that he has one similar to your child's. They know he has metabolic disorder anyway. We are going to do chelation because of the vaccines and that now is our only hope for him to have a future. He is 5 1/2 before they figured anything out. Tell me who you went to that gave this diagnosis. What tests did they run?
Thank goodness that you are as strong as you are so that you can fight for your little boy.
He is blessed to have you, Krista!
*hug*
Anonymous -
We're in San Diego. I have been taking him to Children's Hospital in San Diego. They have been nothing short of amazing. Dr. Bruce Barshop, Dr. Mary Willis, Dr. Marion Jones.
They did acyl-carnitine profiles, amino acid profiles - both serum and urine - and a carnitine profile.
We're dealing with a severe food aversion right now. That's my next journal entry. Hang in there.
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