Sunday, February 5, 2012

Genetics and accepting what is and what we don't know yet

When Ethan was born prematurely, and actually stopped growing when I was 26 weeks pregnant, the doctors at the NICU (newborn intensive care unit) thought that it was quite possible that diabetes is not what caused my son to stop growing in utero - but maybe, just maybe, he has a genetic disorder.

And the saga began...and still continues...of searching for a possible genetic link to my son's issues with eating and slower than expected growth.

A geneticist was given our case at the NICU, early on when Ethan was still struggling to stay alive. And to be totally honest, I was so focused on other things, like my son's survival and him coming home and also taking care of my daughter who was newly born and adjusting to being a new mom, that I didn't pay much attention to the geneticist.

And to be honest, I didn't want to.

She examined him. Her perceptions: He's small. Uh yeah, thanks. We know that. And she decided to run some tests. The results came back with weird results that left the doctors scratching their heads.

And that's when the excruciatingly, long story of my son's possible genetic disorder began. And that's also when we were made aware of what she was suspecting.

They thought he may have some form of dwarfism.

We were shocked. We do have genetic diseases that run in our family - diabetes being the first that comes to mind and celiac being the second. My husband's family has a ton of lactose intolerance and milk allergies. But I've never known anyone in either of our families to have dwarfism.

My intuition told me - and everyone in my world - that they were totally off on their genetic research quest. And forgetting a mother's intuition for a moment, we were actually told - by a number of other doctors and specialists - that the tests that were run aren't real. Why? Science hasn't thought to measure a "normal" range for growth hormone in babies - let alone premature babies - or other related tests (like IGF-1). So if they're not real, then why run them? Because that's what doctors do and many times, it helps. In our case though, it just left everyone stumped. The reason: Ethan's growth hormone was considered high, not low like in the majority of dwarfism cases, and he was small.

I felt and still feel that the lab results were off because he was born so small and fighting hard to survive. So his chemistry was a bit out of whack. I'm not a doctor, nor are my theories scientific or published in journals, but it's just a feeling I had. The other prevailing theory for his GI issues and slower than expected growth - and which totally makes complete sense to me - is that because he was born small, his digestive system was also very small when he was born. He developed really bad reflux. And reflux is KNOWN for being linked to feeding issues. Take the pain of reflux coupled with his premature size, and boom - feeding issues.

And for all of you diabetics out there considering pregnancy: I think he was also born small, and stopped growing in utero at 26 weeks, because I have had Type 1 diabetes for over 35 years, and my body just couldn't handle twins, pregnancy, and all that was involved. I had a tough first trimester, a great second, and a shortened and difficult third. But please, knowing what I know and being what I've been through, I wouldn't change it for the world. I have two beautiful babies that I love with all my heart. All children, and people, are handed a set of challenges in life - whether they are born to diabetics or not, premature or not - and the best we can do is face them, accept what life hands us, and learn.

Going back to Ethan and the story of genetics: I spoke with many specialists, cried to my close family and a few friends, read up on the internet, and paced the halls of our home at 3 am for months. The pain of not knowing, the fear of what may or may not be, was overwhelming to me. I was worried. I was soul searching. And I was praying for the best outcome possible.

I was crying to my husband, who so eloquently said: "Whether he has a genetic disorder or not, he is still the same Ethan."

He was right. Ethan, no matter what, is still the same lovable boy. And that's when it hit me. His words had helped me come to a place of acceptance.

I had made a pledge, set an intention, when I was pregnant that I would support both of our children's individual journeys. That I would be there for them and be present with them and who they are, listen to them, smile with them, and teach them to be grateful every day.

Ethan was re-tested and measured and x-rayed and scanned. And all of those wacky tests that made no sense to me the first time, when I was in a place of resistance, came back negative.

The geneticist wanted to do her due diligence though. She was convinced that something was wrong, that Ethan has a genetic disorder, and she was scared that if there is something, that she might not find it. She wanted to run more tests, an in depth look at his entire genetic make-up. The test - called a Chromosome Micro-array - costs around $100,000, and is performed RARELY.

That test also came back with inconclusive results. Nothing was missing, and there was nothing extra. A few homozygous chains, which every human being on the planet has. (What are Homozygous chromosomes? It's when you have identical pairs of genes for any given pair of hereditary characteristics. For example, if you had a double dose of brown hair in your DNA.)

Guess what? That is what makes us unique and different. No one has a perfect genetic make-up.

She is still searching, and wants us to run more tests. In the meanwhile, we've decided to see another geneticist for a second opinion. We are going to run the tests, mainly because I'm a mom and if there is something to be found, I want to be sure we know about it. So that we can manage it.

My gut still tells me that he was simply born small, and as he grows, the reflux, feeding issues, and all that is related to that, will work itself out. BUT, you never know. And as parents, we want to be sure to give our child the best we can. We want to support him and Aria through whatever they need.

And what Ethan has given me, through this whole experience, is a real lesson in acceptance - even when you don't know what you are accepting. I don't know if I'm accepting a genetic disorder or not. What I do know is that resisting it won't help him, me, or anyone else.

Life coach and Oprah magazine columnist Martha Beck wrote a great article once that has stayed with me, A New Leash on Life. She was pregnant with her second child when late in the pregnancy, an amniocentesis showed that her son has Down's syndrome.

Beck had the difficult decision of whether to abort or not. And after much soul searching, she felt strongly that she wanted to continue with the pregnancy despite many people telling her not to. Telling her what a difficult task it is to raise a child with special needs.

And he wound up being the greatest gift.

She spoke of all the lessons she learned, that I am learning as well, about not being a victim of your thoughts. I do tend to conjure up images and stories that are usually based on fear of what may or may not be. And we really don't know what will be. So the best thing we can do is accept what is, and get out of our heads.

Martha Beck learned lessons that opened up her world. She credits her success, abundance, and love of life to the lessons she learned from raising her son with Down's Syndrome.

I feel the same way. I have changed as a person so much since this experience began, and I bet there's more in store. I have learned to savor special moments and to stay in the moment during challenging times. I have listened and trusted my intuition more than I ever have in my life, and I actually feel much more self-confident. And I am also finding myself - just as Martha Beck did - becoming more successful, more abundant, and loving life more and more. I have everything I could ever want and need, and I KNOW that it's from the lessons I've learned through this whole experience. I have Ethan and Aria to thank for opening up my world to so much.

Hey there, geneticists, what you got for me now?

1 comment:

  1. This is such a beautiful post. I really appreciate your words about acceptance. I find that it's the key to so much in life. I wish you the best.