Today is international #RareDiseaseDay so go find someone rare and give them a hug (consensually, of course). In NZ alone there are more than 300,000 rare people (6% of the population) + their families and carers on top of this. It's much less rare than you think.

You can also give money. It won't surprise you to learn that Rare Disorders NZ's contract with the Ministry Of Health has shrunk in recent years and doesn't cover a fraction of the work they do coordinating research, policy input, operating a support line, connecting support groups, and educating health professionals.

Please consider giving $28 this 28th Feb.

https://glowupforrare.raiselysite.com/donate

#RareDisorders

One of my last acts as an NZ-based health advocate for rare disorders is being the first guest on the 'Rare Aware' podcast hosted by my friend Alanna. I can't remember what we talked about exactly, and I don't think I can bring myself listen to me speak for an hour but apparently there are some good nuggets in here about advocacy in general, and creating change.

I have hope for the future. That's weird, I know, given the current state of things. Hope resides in the potential of our communities to create positive futures. Hope requires resolve, pragmatism, and hard work to become reality - but while that potential exists, then so does my hope - even in these challenging times.

https://www.buzzsprout.com/2546745/episodes/18007843-the-power-of-advocacy-james-mcgoram

#Healthcare #RareDisorders

Baby Is Healed with First Personalized Gene-Editing Treatment

https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html

#HackerNews #Baby #GeneEditing #Health #PersonalizedTreatment #RareDisorders

More than 20 years ago, the idea of developing a national health strategy for Rare Disorders in NZ was floated. Five years ago I joined the campaign to make it a reality. Today, Manatū Hauora ( the Ministry of Health) finally published it.

This is huge. It will likely not make the media today, but the impact will be felt for decades to come. I'm feeling rather emotional.

#RareDisease #RareDisorders #Healthcare

https://www.health.govt.nz/publication/aotearoa-new-zealand-rare-disorders-strategy

An application was made on my behalf a few years ago for treatment of my metabolic disorder. I was outwardly well, and treatment would have stopped me ever developing symptoms.

It was declined, because I was not sick enough to warrant intervention.

Another application was declined a few years later. The reason? My symptoms had progressed to a point treatment would no longer be effective.

We have to change the way we provide healthcare.

#rareDisorders #Healthcare #disability #rareDisease

In Wellibobs today, meeting with volunteers and staff of #RareDisorders NZ and having serious discussions with Pharmac. Decided to take a few moments out so that I could appreciate this place *on a good day* (turns out you can't beat it).

#wellington

Just did a live interview on breakfast TV about the development of NZs first rare disorder strategy, then had a quick chat to the incoming Prime Minister in the green room.

Not my normal morning routine, but hopefully I made sensible noises about our work!

#RareDisorders #Disability #HealthNZ

Kia ora good mastodon folk. A rare plug from me for you to fill something in. The Rare Disorders NZ survey is open now and we need as many respondents as possible.

If you have a rare disorder, or care for someone who does, please fill this out. The survey results have real significance, and are used to influence decision making across government.

Here's more information: https://www.raredisorders.org.nz/about-rare-disorders/voice-of-rare-disorders-survey-2023/

#RareDisorders #RareDisease #HealthNZ #Disability

I attended the 'My Life Matters' debate in Auckland last night, representing #RareDisorders and discussing medicine funding in a lively forum with MPs and candidates from the major parties.

It's fair to say that Act bombed and made no sense at all, while the remaining candidates had all done their homework. Still, our Minister of Health struggled - she is not a natural in front of a crowd - and you could sense that Shane Reti (National) had the better of it.

So what does this mean? (cont)

Five years ago I joined raredisorders.org.nz as a volunteer on 'Fair for rare' - our campaign to get the Ministry of Health to establish a national strategy for rare disorders.

Today I met with Ministry officials, as chair of our small charity, to schedule the consultation process and establish the methodology to write it.

I mean, this role is hard, but there *are* good days.

#RareDisorders #RareDisease