We know that Kai has two mutations that cause Nonketotic Hyperglycinemia.We know because when he was diagnosed we sent Kai’s blood off for DNA testing to confirm he does have the mutations. We know where they are: he has two mutations in the GLDC gene of the 9th Chromosome,c.395C>T p.(Ser132Leu) and c.1108C>A p.(Gln370Lys). One is prevalent in New Zealand, in the Maori population (obviously inherited from me), and is severe. The other is a more mild mutation (apparently, or so we hope).
The next thing to confirm is that Kai inherited those mutations from us, his parents. So we went and talked to a geneticist. He had some lovely things to say about our options with future babies (as any child we have has a 25% chance of having NKH). Nothing we didn’t already know. He seemed surprised that we knew so much about NKH already, but explained that most his patients don’t have a diagnosis yet. Most have Syndrome Without a Name – that must be tough. I really really feel for those people. We’ve found such comfort in the fundraising, knowing we can fund and push a cure further a long.
The other funny thing was he felt the need to say that if we wanted to get our DNA tested next to Kais, that the paternity would be revealed. I thought it was an obvious conclusion, but apparently not to everyone. It turns out that he has quite a few patients who call back the next day to ask him to leave some children off the test because they have different fathers! Isn’t that crazy? Apparently, it happens more than you’d think. So crazy.
So yes. We went, we got bloods done. And now we wait four months of our genetics to come back to make sure Kais mutations were inherited, and not a random mutation.
It’s not super relevant right this minute, but if we ever wanted to have more children at some point, it would. We’ll see. I can’t possibly imagine having the energy for a second child, but one day, maybe.
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Sending love from Michigan, USA. My family was introduced to NKH in 2011 when my cousin’s son was born with NKH. He’s doing well now, nearly 6 years old. We’ve since discovered many in our extended family are carriers of a similar mutation in the GLDC gene (c.547delG). I found your page while researching the gene, since my mom received her positive test results this week. My sister and I will start our journeys into genetic testing soon now as well. Best of luck to you.
NKH has brought so much difficulty but it has also brought our family and others together in ways we never imagined. People are fighting hard to get NKH recognition and research. You’re not alone.
<3 - oh the NKH club. I've found such comfort in NKH families who get it. And you're right, there is a lot of difficulty and grief, but I was surprised to find how much love and joy there is despite it. Sending love, hey. x