Friday, April 11, 2014

Paying it (genetically) forward on the 365


Yesterday was the one year anniversary of our big exome results reveal. Today is would have been my son Drew’s first birthday. Both are hard to reconcile in my heart because I desperately want to make sense of it all.

But I know there is no sense in any of this. There are no reasons and there is no closure. I miss my boys and genetics is the cause but not the reason.

I suppose my gravity in all this is my son, Clark, who reminds me to keep breathing. Every day is another “one day at a time” for me. It always will be.

It was a sobering realization for me that I am not the worst off in genetic roulette. At the end of the day, I’m the least of the “unlucky ones.” My 25 percent chance of recurrence is the home run of statistics in this game where no one wins. My heart breaks as I read about translocations and dominant disorders and especially the mothers who don’t have a black and white answer like I have.

My heart hurts for their hearts. And while genetics killed the best of me, I also know that genetic since saved the rest of me. I am lucky in the scientists and doctors and genetic counselors who saw me through this. Not everyone has such support.

So I made a decision. My eggs are one half of a huge problem for myself and my husband, but they are just eggs to anyone else. Perfectly fine, perfectly usable, perfectly healthy reproductive eggs.
I decided to donate them. Who wouldn’t want the best of my genes without the worry of the worst of them? If you’re down with red hair and you don’t mind skinny kids, I’ve got your eggs!

The idea was to find a mother who needs donor eggs and can't afford them and simply give her mine - be a "known" yet "unknown" donor.

Alas, my eggs have expired. It’s true. To make IVF worth it, couples want 25 year old eggs, not 35 year old eggs. My eggs are not 25 years old.

Then I heard about a woman who has leukemia caused by the trigger of a genetic mutation. She needs a bone marrow donor and she hosted an event through The National Marrow Donor Program. I attended this event by BeTheMatch.org and submitted samples of my DNA for screening, inputting and, hopefully, matching me to someone who can use my bone marrow.

To participate you have to be willing to give several cheek swabs of DNA, continually update your contact information, and donate marrow or blood if you are someone’s match.

My sample is in processing, which takes about two months. Some people get a match call right away, others are years on the waiting list, and others never get the call at all.

I hope every day that I am someone’s match. I know there is nothing anyone could have done to save my sons, but if there WAS someone out there who had the ability to change their fate, I would hope they would be willing to save them.

I would give every single part of myself to save someone from their loss at genetic roulette.

I sincerely hope I can #bethematch


Wednesday, April 2, 2014

Just shy of a year

It is just shy of a year since I learned the results of our son's exome.

I look back now as though it has been a decade of history instead of just 357 days.

I hope that knowledge was power for me, because instead of being torn down by my unchangeable DNA, I was empowered. My life today is completely unrecognizable from my reality a year ago. I am a different person - a new person, really. Do I like this new woman, who seems to have a stronger spine and a harder edge but a softer, more empathetic heart?

I guess that isn't for me to say.

I am happy for the women who have come up behind me for exomes - it seems that more families are seeing the benefit of this technology. It is providing answers where there wasn't any before, and that's powerful. I also see that insurance companies are much, much faster to deny the tests, but that research groups and even the labs themselves are picking up the insurance slack for the greater good.

I do still firmly believe that every single tested exome brings us closer to both overall and specific understanding of genetic disease. Every single person is a link in this long, long chain of knowledge. I believe that so much of what we think we know about genetics and genetic disease are guesses and theories and that a lot of those theories are wrong. I believe that those links of knowledge will shine brighter lights on the connections between things as common as Trisomy 21 and as rare as Congenital Disorder of Glycosylation 1g.

I leave this post with a bit of happiness - a glimmer of hope where I had none before. I introduce Clark to the blogosphere. He is three months of soul-saving love. He is smiles and cries and he holds my heart with the eyes I dreamed for his brother John and the smile I dreamed for his brother Drew. He is, by scientific definition, even more rare than his brothers. Clark is only the second known person to carry his particular microdeletion on Chromosome 22, gene ALG12. His father is the first one.

How about that for the most scientific paternity test in history?

Meet my son: