On the newly diagnosed

By 6th November 2017 April 3rd, 2024 No Comments

Oh, the newly diagnosed.

Sometimes I struggle with the fear others have when their baby has been diagnosed with NKH. I didn’t really have the fear for NKH in the beginning. The name of whatever it was didn’t matter, because I’d been primed for immediate, any day now death. When they had a diagnosis and were talking about developmental delay, all I heard was that my baby was going to live. My baby was not going to die as immediately as I thought he was.


Buuuuut that’s not how other parents take it. There recently has been a slew of newly diagnosed parents. The community is pretty small, so once a family reaches out everyone is aware and responds with love and hope.

Or sometimes just a quick message, because their fear is overwhelming and difficult to align with my current life.

There was one set of parents who asked loudly and repeatedly for prayers that the NKH diagnosis was wrong. That they didn’t want a life of seizures, or developmental delay, or low tone or medical anything. That NKH was horrific and painful and difficult and horrid. Please, God, make it something else.

And yes, okay, NKH is all those terrible things. But as I read those ‘pray that the doctors are wrong’ requests, I had Kai on my lap happily gurgling away, being quite delighted with a fistful of wrapping paper. He was content and beautiful and happy.  I found it difficult to align the horror of the newly diagnosed parents fear with the happy baby on my lap.

NKH is not fear 24/7.

There are happy moments, and joy and love. It’s a mixed bag. I want to tell these parents that, but it’s hard to get through the ‘God is good and your prayers will be answered and your child will be healed’ barrage. (Also, if God has set you on a path where your kid has NKH, I’d stop praying that the doctors have got it wrong. They clearly haven’t. No one accidentally diagnoses NKH on purpose, and it’s hard to say the glycine labs are wrong when they line up with the MRI’s and all the symptoms… Better to pray that you can get your shit together to manage the new path you’re on with grace).

That doesn’t mean I’d willing choose the NKH life for Kai, never. But I didn’t have the choice and were on it.  I’ve managed to settle in best I can (Faith & Fortitude, that’s what we say). We started the Mikaere Foundation to raise funds research into NKH and a gene therapy cure. We share our knowledge and the research we’ve come across. We do the best we can with the life we’re living.

But a year down the road, NKH doesn’t hold any fear for me because we’ve faced everything but the inevitable final goodbye. Until we’re at the very end of the path, we’ve faced the worst we can face already. The hospital holds no fear. We’re friends with the a&e reg and nurses. We’ve got a fab group of therapists and I’m Facebook friends with an excellent group of NKH parents, so many of who I absolutely adore.

NKH, right now, (dare I say it?) is manageable. And we’re managing fine, the best we can. Being at home with Kai, who is mostly doing just fine, is the best and happiest place we can be. Right now, things are very good. My baby is happy and well loved and home. Sure, we still have all the appointments and medications and seizures and global delays, but compared to those weeks in NICU? I’ll take this. I’ll take this happy time.

So, newly diagnosed parent: please be strong. You can do this. Whatever happens, whatever NKH brings you, you’ll have moments of both joy and fear. And that’s important to know – it’s not all grief. There is plenty of love and smiles and happy in there too. More than you’re able to imagine right now.

When you’re ready, there is a large, loving group of people in your corner already. We’re already living the NKH life. You’re not alone in this. 

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