Friday, January 11, 2019

You-Hoover-Fong Syndrome. 2 Years Post-Diagnosis

Yesterday was the 2 year anniversary of us receiving the phone call that David had been diagnosed with You-Hoover-Fong Syndrome, a mutation on the TELO2 gene. When he received the diagnosis, he was the 7th person known world wide with the syndrome.

What's changed?? Technically nothing. But virtually?? Everything.

There is still not a lot of research going on with this gene mutation. We still treat David's symptoms just like we did before. He hasn't really made any gains in development, but this also doesn't seem to be degenerative either. We still face our daily struggles. We still see numerous specialists. Life is very much day to day here. I'm still really tired. It's so much work somedays that I want to cry. But it's also so very rewarding to my soul to take care of David. I now know that I was meant for him and he was meant for me.

Genetics is so very interesting. It takes money for research. It also takes someone willing to put in the research. For someone to really be willing...… takes numbers.  But the reason it's called a rare disease is because it's just that. RARE.

Because of my original blog post about the diagnosis, my annoying (to some of you) hashtags on facebook and Instagram, and my incessant posting, we have very slowly begun to add to our YHFS family. Like me, when their loved ones are first diagnosed, family hops onto the internet. And when I did it....I found so little information about it. Now when people search it, my blog pops up. I'm so grateful for that post.

We are still a small group. A very small group. But together we are growing and supporting each other. We have a multitude of talents between all of the parents and loved ones on the page. Mine seems to be the ability to write (it's for sure NOT organizational skills). But we have others who are on different boards for genetics in their states, some who seem to be skilled at spreadsheets, one that has legal skills, etc. Some of us are just extra good at showing love and support to our kids.

We are trying to get this syndrome on the map. By working together at coming up with a list of different symptoms and alternate diagnosis, we are hoping to bring some interest to

this disease. More interest equals more money for research which equals more information to help our children and future children with YHFS. Our kids are the pioneers for this syndrome right now.

I wanted to share our little family with you. Keep in mind....these kids ALL have You-Hoover-Fong Syndrome...…...But that's not WHO they are. They are all individual, loving adults and children with families who want the best for them. We have kids in the US, England, Scotland, and Spain so far. And I have absolutely loved the support we have provided for each other over the past year.

So please meet some of our YHF kiddos :)

David-18 (almost 19)

Alexander-12 (almost 13)

Ellis-19 months




Toby-17 weeks








Matthew 2015-2018 RIP Angel