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Has anyone ever heard of this?
My newborn was just diagnosed with nonketotichyperglycenemia. Evidently it is very rare and I was just wondering if anyone here has a child with this disease or knows anyone who does. I can use any information I can get. I'm just wondering what level of mental suppression I can expect from my baby girl as it seems that there are several different levels that she can land in. Thanks.
I prayed for this child, and the LORD has granted me what I asked of him. 1Samuel 1:27
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Re: Has anyone ever heard of this?
Wow...that is a diagnosis with lots of letters! I have never heard of it, but clicked on the link to try to learn a little bit more.
One thing I can share is that it is probably next to impossible to predict how your child will be affected by this. DD also has a condition in which she has the potential to have cognitive/learning disabilities--but the degree to which she may be affected cannot be predicted. There are some people with DD's condition that never knew they had it until much later in life when they got an MRI for some reason. Others are severely affected from day one. It is frustrating and many of us on this board can empathize with your situation although we may be dealing with different conditions.
I don't know what specialists work with NKH, but I would ask if your child will qualify for your state's Early Intervention program. They provide early therapies that may help your daughter.
I just asked a friend who knows more about organic acidemia's (I think it falls under these - it's a disease of amino acid metabolism).
Non-ketotic hyperglycinemia (NKH) is also known as Glycine encephalopathy/D-Glyceric acidemia.
I think the most important specialist for you to see is a metabolic's doctor or metabolics genecist.
Closer to you, would be Frances D Kendall, MD who specializes in Mitochondrial Disease and does virtual consults. I think NKH has a mitochondrial dysfunction component so she may be interested in your case. She's an excellent doctor! Well-respected in her field and I know several people who have gone to see her.
Dr. Vockley at Childrens Hospital of Pittsburgh is an excellent genecist that deals with metabolic patients. and Amy Goldstein is a pedi neurologist that specializes in inborn errors of metabolism. Amy is awesome! If you can get to Pittsburgh, I'd recommend that you see BOTH doctors - from a genetics perspective as well as a neurological point of view. These doctors work together....
In Boston, I'd recommend Metabolic Disorders (PKU-IEM) Clinic at floating hospital for children (Tufts). Korson is hard to get into, but Cheryl Garganta may be easier. (Korson is shifting more into reserach, Garganta runs the Metabolic Lab which does amino acid analysis and organic acid analysis...
Also, Childrens Hospital Boston has some great docs. Dr. Gerald Berry is excellent for Metabolics Genetics (HIGHLY recommended!) and there are several other metabolics docs there too.
Angel Flight can get you to these hospitals.
In Pittsburg you have Ronald McDonald House as a very-low cost place to stay....
In Boston, I'd recommend Hospitality Homes. Tufts may also have a RMHC type house there (not sure!) since the local ronald mcdonald house is oncology-only... I think Childrens does too - but has very limited space... Hospitality Homes should be easiest to get housed through!
Also - This is an awesome chart of Inborn errors of metabolism (I am dorky enough to own the poster! LOL) if you look at the top right, you'll see where the metabolic error is that causes NKH! (under amino acid metabolism)...
Feel free to message me. I am in Boston, living with a rare metabolic disease (I actually relocated here for healthcare) and do know a lot of national resources as well as local help if you choose to travel out of state for care (which I highly recommend!!!)
Oh, also - how did they come to the diagnosis? Newborn Screening (this test isn't mandated in all states) or was she symptomatic?
Thank you so much for all your information. Reagan actually became symptomatic three days after she was born. Evidently, this disease is very rare, so I'm not sure how much testing there is out there for it. DH and I are already starting the process of genetic screening and counseling to see what went wrong and how to prevent it from happening again.
There are Newborn Screening tests for NKH, but in most states this one (like many others) aren't mandatory and so unless parents ask specifically for them, they aren't run.
That's why I was curious if you happen to be in a state where you got lucky and it was a mandatory test, or if they went looking based on symptoms...
With a lot of metabolic diseases, because they are rare/orphan diseases, very little funding goes to research for them. If you deal with a general genetic counselor that deals with general genetics, they will likely have very little answers. They might just explain inheritance patterns and other very basic info... going to a metabolics genecist, they will be more familiar with current research as well as what treatments are available for the child you have now. I highly recommend going this route!
Feel free to contact me if you have more questions. I do know a lot of other families living with various metabolic diseases. I did ask one of them whose son has GAII (and was symptomatic at birth) and she said facebook has groups for NKH and general metabolic groups where you might find others with NKH!