Monday, April 16, 2012

My Fragile X Family Tree

So, here's how it goes.

I passed the fully mutated gene for Fragile  X to all three of my children.

My dad passed the carrier gene to all 3 of his daughters (me and my two sisters).
We know this because my dad was tested back in 2006.

My dad's mom (my grandma) passed the carrier gene to my dad.
We know this because only she could have passed on the affected X because my grandpa could only pass on his Y chromosome.

So, who passed it on to my grandma?

We don't know.

What we did find out a few years ago, though, was that my grandma had a sister who had grandchildren who had Fragile X.

And then that's all I heard. I thought they were out of state some where because I never heard anything else about them or knew how to connect with them so I just assumed they were out of reach or whatever.

Last year I contacted the National Fragile X Foundation in order to get  in contact with more families here in my state.

I ended up with only 5 more families in our Association, but I was excited to have new people and glad to hear that some of them were so willing and anxious to volunteer their time to help out in the Association here.

I have tried to stay in contact with the 4 other ladies who have volunteered their time to help out and try to send out emails and e-newseltters to all the members of our local Association.

My grandma died last year.

She never really wanted to talk about Fragile X.

So I didn't talk to her about it.

Her sister died recently and my mom and dad attended her funeral last week.

While at the funeral my mom observed a child there that reminded her so much of Sister.

Knowing that she had heard that my grandma's sister had grandchildren with Fragile X she felt safe in approaching the parents of this child and bringing up the fact that she had heard about Fragile X in this family and asked them if their son had Fragile X. The parents replied that he indeed had Fragile X and that this mother also had a sister who had two children with Fragile X! My mom got all excited and wanted to share my information with them, not only because we are second cousins, but because she thought that with me being over the local Fragile X Association that I could get them involved. As my mom began sharing my name and information one of the girls was surprised to say that she already new of me, had my email, number and checked my blog often!


Turns out that she was one of the new contacts that I was able to connect with through the help of the National Fragile X Association!

The mother I had been talking to all this time was actually my second cousin.

We share the same genes.

I felt like the experience had just come out of a chapter from The Oak Leaves (a fictional novel about a mother who find out about Fragile X running in her family by reading old journals--it's a great read).

I am so excited to be able to talk to these two mothers, who just happen to be also be my second cousins and really delve into family history and experiences with their children and see how much we are alike not only because of the Fragile X gene but our family genes that we share.

Will they know who passed it on to their grandma and mine?

I don't really know how to explain my excitement, totally. I think it is just because I feel a connection to these ladies on an even deeper level because they are my family.

We found each other!

1 remarks:

Kari said...

That is awesome girl! I can't wait to hear! So neat!