Tuesday, October 20, 2009

Ian's Genetic Test Results

They are in...well, they have been in. I just haven't called thinking if it was important enough or there was bad news, they would call us. No news is good news, right?

I *knew* in my heart that my little boy was fine but when the neurologist mentioned Fragile X, it broke my heart. I was so worried. Well, after the horrible blood draw experience & waiting 2 weeks for results & then no phone call from them, I figured I would leave well enough alone, right?

Nope, I had to call yesterday. His neurologist, Dr. Brown (LOVE the man...he is my age & has a little girl that he says needs to hook up w/ Ian, sorry Lizzie...we will be faithful, promise!), called & told me that Ian is F.I.N.E.

The complicated version...

So, there is something called "repetitions" when they test for abnormalities. It gets complicated. Basically, if the mutation is present w/ 200+ repetitions, the individual is officially diagnosed w/ Fragile X. Then there is something call premutation, when the repetition falls between 50-200. This means they are a carrier of Fragile X & the closer they come to 200, the more symptoms manifest. Ian's number, 51. He is a carrier, no effects from the mutation as normal is considered 5-50, making him borderline. The "1" isn't a significant difference & means that he will not develop any of the Fragile X issues.

More information...Fragile X Mutation Repetition Explanation

What does this mean? It means that Ian is OK but if Todd & I decide to have more kids, we need to get tested genetically to see if either of us are carriers. Now, the reason being is that his repetitions are at 51 which could be due to a fluke OR it could be b/c of either Todd or I. That's ok, really. I don't think we are planning on any more, haha! If we do decide to use our 5 frozen embryos, we will need to get them genetically tested prior to transfer (PGD) to make sure that they don't have a high number of repetitions of the CGG on the FMR1 gene. I *said* it was complicated, didn't I?

Long term effect, Ian's future wife will need to get genetically tested b/c his children have a higher chance of having Fragile X b/c his repetitions are borderline making him a "carrier" of this syndrome. If his wife is also a carrier, their children are at a much higher risk for having Fragile X.

The short of it all is that Ian is healthy. He is not being diagnosed w/ Fragile X or any other syndrome. He is going to lead a happy, healthy, normal life. Thank GOD! Honestly, it wouldn't have mattered anyway. He is a happy little boy & we would have loved him all the same.

I hope all this makes sense. It took me some time to sort it all out as well as researching it on the internet b/c as much as I wanted to understand Dr. Brown, I was all confused. Makes sense now that I have had time to digest it all.

I will continue to say this...God answers prayers. He really does.


Amy Missey said...

That's really great news! So happy for you Ian and all of you. Amy @ http://andtripletsmakesix.blogspot.com

ZanyMominTX said...

God does answer prayers. You and the triplets, especially Ian, have been through the ringer.

txsjewels said...

If you and todd decide to have more kids?! you so funny honey.

HAPPY HAPPY NEWS, even though i just knew that boy was perfectly F-I-N-E. He's a bundle of heart and soon we'll see he's all boy as he'll be climbing to the upper limbs of that backyard tree. at sofi's order, no doubt.

poor thing, those chickas are going to roll right over him. it's what we do.

Steph said...

Oh what a scare! Thanks be to God that Ian is fine!

Angela said...

I am sighing a sigh of relief for you! What a ride, but glad you know what is going on! And I personally hope you will consider those 5..not that you'd have 5 more, but we LOVE our large family and God is good...He provides for us beyond our expectations!Thank you God for hearing these prayers for Ian and for this GREAT news!

Norina said...

Great news. thank you for explaining Fragile X, I actually have a cousin who's son has this and never really understood it before until now. You did a good job making something "complicated" understandable. (((hugs))) Ian, as well as the girls, are just precious. Coming to read along in your journey makes me smile.

Clan Goodrich said...

Great news and what a relief

Sadia said...

I'm glad you have an answer. I'm even gladder (wow, spell check didn't scream!) that it's good news.

I've waited for test results for my own daughter, and the waiting is unbearable. How do these tiny people have so much power over our hearts!?