research

May 14

On meeting Prof. Nick Greene

By Ellly | #teammikaere | No Comments

We’re really lucky to live in London. One of the best cities in the world, for sure. One of the benefits is that it’s in this city you’ll find UCL, one of the main centres of research for gene therapy (a large chunk of the research done in the gene therapy community comes out of UCL). Conveniently it’s the centre Prof. Nick Greene is based at while he’s working on an NKH treatment. This means he’s in the best possible place in terms of the knowledge available to his team – they benefit from the knowledge the other teams are working on. Very exciting.

Even better for us, UCL is attached to our specialist hospital. So when we went in for Mikaere’s metabolic check, we met Nick for a coffee.

You guys – there is so much going on in the world of NKH research. In terms of understanding the development of NKH in unborn children, understanding the wider implications of NKH and the knock on effects into the one carbon folate system, making cell models, looking at treatments (like the components that make up cinnamon!) into bigger cures, like gene replacement therapy in mice. There is lots happening, a lot of moving parts. Very very exciting.

It’s inspiring, meeting Nick (who is the nicest guy, for sure) literally made me want to throw more money at research. Because that’s it, right? The more money the more research.

I talk a lot about fundraising. I ask over and over for donations, constantly putting my hand out (and I’m so grateful for the love and grace shown to me, you guys are the kindest and most generous friends we could have) – but what it really comes down to is I have the deepest hope that in Mikaere’s lifetime NKH will be a thing of the past. That there will be an effective treatment and future babies and families won’t have it like our kids do now. That our babies won’t die.

Now, that’s a lot of pressure to put on people like Nick, but to talk to him and have him discuss where they are right now and where they are going? It gives me hope.

When we met it was a beautiful day in London. Even better, Mikaere was on good form. He was sitting and talking and very awake and aware and interested in the world around him. I know the researchers don’t always get to see the day to day life of kids with the condition they’re researching (at least not in NKH. In NKH they’re still in mouse model stage) so it was a nice moment for Nick to meet Mikaere again. To see how well he’s doing, the development he’s making.

It was such a nice afternoon. I love that I live in a city where I can meet the guy trying to cure my sons terminal condition for a coffee. What a world, hey?

Apr 23

On the Boston Conference

By Ellly | #teammikaere | 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.