He is Haddie Mae's geneticist that was recommended to us by another family in the BWS support group. We met him back in April and have seen him twice since then. In April, he ran a genetic microarray on Haddie. It told us two things. One, she did not test positively for any known genetic mutation that causes Beckwith -Wiedemann Syndrome. This was not shocking because not much is known about BWS. Up until this point she has only had a clinical diagnosis based on the fact that she shows enough characteristics of BWS. And two, she has a homozygousity(double copy) at Chromosone 6. Chromosone 6 has not been linked to BWS.
He had us come back in June to reveal those results. He explained that he felt there was more to Haddie Mae's genetic story and with our permission wanted to research it further. We then sent off blood from Dave and myself along with Haddie's. They sent it off for a test that would take 3 months to complete. The test was called a Whole Exom Sequence.
I got a phone call last week from Dr. Martinez's staff that was requesting an appointment with Haddie Mae. My heart fell through the floor. I knew it was going to be big news because they wouldn't explain it over the phone. So after a few sleepless nights I found myself driving to LA at 5am on Wednesday morning.
We waited and waited and finally saw Dr. Martinez at 11 am. And this is what he told us.
Dave and I are not related! What a relief! Haha just kidding!
Haddie Mae does not in fact have Beckwith Wiedemann Syndrome!!!!!!!!!
Rather she has what is called Uniparental Disomy 6. Otherwise known as UPD 6. So instead of getting one Chromosone 6 from Mom and one Chromosone 6 from Dad... Dad's 6 rescued the missing Chromosone 6 from Mom. Make sense??? UPD 6 is known to have caused macroglossia. Although only 23 cases of UPD 6 have been reported.
And we thought this girl was one in 13,000! More like one in millions... lots of millions!
So what does this all mean... I will simplify it for you.
No more cancer risk!
No more routine ultrasounds!
No 6 week blood work!
No more worry!
Even though I am elated to share this news with our world it also seems a bit bittersweet. I feel guilty. For two years we have wrapped our hearts around every BWS baby we had come to know through our Facebook Support Group. I have cried for days when we lost one to cancer. I have cheered on every Mom who was going through the same things I did. It has become part of our family. And now we are set free of worry and stress.
I am going to look at it like this is just the beginning of our journey. All of these amazing families have shaped our journey. Have carried us through our darkest days and I will continue to do that for all of them!
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