On the Boston Conference

By 23rd April 2018 No Comments

I don’t know where to begin.  I left Sam and Mikaere early on a Wednesday morning and caught a taxi the airpot. I left in a rush, which made the leaving part a twinge easier (because leaving your sweet, medically fragile child is never going to be easy, even in the best of times).

Then, before I knew it, I was in a cute little church hall with facebook come to life. I can’t even begin to express how amazing it’s been to meet the people I’ve been talking to online for the past year. To meet Tarah and Eric, Drake’s Parents. Maddison and Dalton, Kanes Parents. To meet little baby Willow, Jade and Larry, Evelyn (Bella’s Mom) and Trine with Karine and Robin with the most beautifully sweet Saige. To finally finally meet Kristin, the mighty force behind the NKH Crusaders and her son Thomas. To be reunited with Emma and Paul and Joe, the famous face behind Joseph’s Goal.

I get these will just be a long list of names for you. But I’ve been reading these names daily for the last 17 months. I’ve been sending messages and liking posts and commenting on photos and asking advice. I’ve been sharing their grief and cheering their joys and until this week, I’ve only been privy to their lives through a screen. Really. In my head I was still associating people with their full names and avatars, like you see on Facebook.

There was a lot of love at this conference, a lot of kindness and a lot of people who GET it. Who live a similar life a million miles from where we do.  To be in the same room? To cuddle sweet Kane and to hold Willow and to sit with Joe? You guys. It was like my heart exploded – these kids were just like Mikaere. They were JUST LIKE HIM – I was in a room with my tribe. I can’t even begin to explain what an experience that was.

To leave my little guy with Sam and fly across an ocean was tough, but what I didn’t understand was that I was going to be with what essentially is my NKH family. It sounds mushy af but it was wonderful. To be with people who understood seizures and blowing up noses and were happy to talk out anti-epileptics and b-vitamins and how there has to be more going on in the folate system than we know about. It was like being thirsty for company and arriving at an oasis. And I drank my fill, believe you me. So many beautiful people, so many beautiful NKH babies. It was AMAZING.

Dr Van Hove and Dr Halder were also there  to share where they are at with their research. I was very interested to hear the directions Dr Van Hove was exploring. Dr Halder was less straight forward with her work – there was a lot of holes in her talk and she’s hasn’t made as much progress as either Dr Nick Greene or Dr Van Hove, but it sounds like she has a lot of support and financial backing which is positive.

Essentially, Van Hove is looking at Chaperone Therapy, which is to say he’s looking for an existing FDA approved drug that will be able to help stabilise the proteins our kids make, allowing them to part-process glycine. This may even allow them to take a step down on the severity scale, drastically improving quality of life for our children. He’s also looking at the Serine hydroxymethyltranferase system, which is a system that keeps serine and glycine in equilibrium.

It was a very exciting conference, I feel like there was a lot of moving parts that came together in a positive way, particularly in terms of the charities and the researchers, and how we as #teamMikaere fit in, and how we can support the bigger players.

Unfortunately, the main theme that shone through was funding, and the lack of it. It costs approximately £200k a year to run a small lab at bare bones. What’s more, between the three researchers funds from the usual family charities are now diluted. Its difficult, because I know NKH families are already stretched, and have already reached out to their social circles for donations.

Funding, it’s always going to be the bottleneck between us and a cure. It just kept coming up again and again, how much funding is required and how little there is – some of our researchers are seriously struggling to stay afloat, which really was difficult to hear.

When the conference drew to a close I was sad to say goodbye. We’d only been together for three days but a lot happened. There was a lot going on and I’m grateful we got the time we did. What a whirlwind trip.

I know there will a UK Conference later this year and I am beside myself excited to be at that one too. It’s important, hey? This time with people who get it. I’m glad I went. Being away from Mikaere and Sam was rubbish, but I’m still glad I went.

From Left to Right: Kari and Maddison (Kane’s Grandma/Mum), Me, Jade (Willow’s Mum), Emma (From Joseph’s Goal, Joe’s Mum) and Evelyn (Bella’s Mum)


Dalton (Kane’s Dad) with Kane and Joe, and cuddles with Kane (honestly, the sweetest little guy!)

Me, Tarah (From the Drake Rayden Foundation – Drake’s Mum) and Emma (From Joseph’s Goal, Joe’s Mum)


Dr Van Hove and Dr Halder presenting at the conference.

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