Well, I guess the title does not really mean anything to you... It didn't for me too until about a year ago.
Weirdly enough, I instantaneously memorized that string of characters, the first time I saw it.
It finally puts a name on something that did not have a name before...
My first daughter is born in 2015, an era without COVID, without too many troubles. Our first child with my wife.
The beginning was tough, as with any kid! A lot of new habits to form and tiredness did not help. Thankfully, babies sleep a lot generally.
After several months, it was time to realize that something was abnormal. She was too quiet and not moving a lot. Not like any other baby...
She got diagnosed with hypotonia. Which means low muscle tone. But it's a symptom, not a cause.
This is when we felt into the unknown. And...
When you don't know the cause, it's easy to feel guilty. It can make you question your entire life choices.
When you don't know the cause, it's difficult to answer to your friends, your family, or even a random curious in the street, asking you what's wrong with her.
When you don't know the cause, you have no idea what can happen, and there's nothing you can do to prepare for the future.
But then we got results! She has a very rare genetic disease due to a gene mutation. On the gene HNRNPH2. And there are about 120 cases currently known in the world.
She's a mutant, a little X-men! Except that in her case, she, unfortunately, did not get laser eyes or psychic powers. But developmental delay, hypotonia, and several other NOT cool things.
But at least now, we know the cause.
After meeting with the other parents and the researchers working on this rare disease, we know she has a future.
And we can prepare better!
As any parent, it's tough to know that the day you will leave that world, you will let your child on his own somehow. It's even worse with a disabled child.
But I am optimistic. The research on her disease is pretty active, and funds have even been raised by the community of parents through the Yellow Brick Road Project.
https://yellowbrickroadproject.org/
We see a lot of progress in the genetic field with mRNA vaccines, genetic therapies (for example with SMA), etc.
https://www.mda.org/disease/spinal-muscular-atrophy
We see a lot of progress in AI, robotics like Tesla Bot, etc.
We see a lot of progress in transhumanist technologies like Neuralink, exoskeleton, etc.
All these things will contribute to supporting the life of my child, your child, our children, and grandchildren.
But aside from sharing with you my investment thesis, and my optimism for the future, I want to invite you!
If you are in a similar position with a different child, contribute to research. And the first step is to participate in natural studies. It is the basics and most important. Also of course donate if you can. And even more, be optimistic and invest in the technologies that could make a difference.
Top comments (0)