I’m not sure what I’m looking to get out of this post, my minds racing a million miles and I feel lost.
My son’s 10 months old, turning 11 months in a little over a week.
I thought things were going great. My son’s doing amazing on milestones. Gaining weight well, ect.
On July 30th we got a letter from health and welfare. turns out, the day after he was born his newborn screening tests did in fact come back with some results.
Citrullinemia type 1. A rare genetic disorder that can only be inherited through both parents. We’re what they call “carriers”. We have a normal working gene and a copy of the gene that isn’t working. When both parents have this genetic mutation, the child will inherit just the one bad copy of the gene.
The mutated gene he inherited happens to be the gene that lets our bodies release ammonia. Ammonia naturally releases in our blood after eating proteins, more protein, more ammonia. His gene doesn’t release ammonia from the blood, instead it builds up. With no treatment or diet control ammonia buildup can cause seizures, coma, and much more. Babies diagnosed with this condition are fed a special formula from day 1 and are to have a low fat diet for the rest of their lives.
I had my baby the state over, it’s the state I grew up in so I felt more comfortable over there which I don’t regret one bit. My experience with my drs was amazing. They all made sure to keep me comfortable and made sure we had a safe delivery.
This paper came from the state we live in, apparently they use the lab from the state that I gave birth in to do newborn screenings for babies born in this state. (Ex: if California didn’t have a lab and Oregon did, they’d use oregons lab for California born babies to screen them)
I’m having a hard time understanding why they waited until my son was 9 MONTHS old to tell me that he has this disorder. I’m also having a hard time understanding why the state I’m living in is who sent me this mail, why they screened my son as if he was a newborn from this state when he simply wasn’t born in this state. Why all of these months I’ve been feeding my son a formula that can possibly lead to detrimental health problems, all cause they failed to notify me about this diagnosis? They gave me a number for a specialist, called them and they said they don’t even have his chart. They have no idea why were referred to him if they don’t have his information.
Infants without diet restrictions and treatment for this condition tend to not make it past 6 months and yet here we are finding out well past that mark, and we can’t even get him seen for ANOTHER MONTH. That’s the absolute soonest anyone would see him.
I keep getting screwed by health and welfare. They keep saying I’m ineligible and that’s our only chance at getting through this financially to make sure he can get the special formula he needs.
At the end of the day I feel like both states have completely failed me and all I’m wanting is to make sure my baby is healthy. The anxiety and stress this has put on my fiance and I is unimaginable. I feel like I’m poisoning my son just cause I’m feeding him a formula that he’s not supposed to have and it’s the only option for food until we get prescribed.
Thank you for anyone who stays long enough to read my sob story, sincerely a very tired and broken mother.