PURA and Simple

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PURA and simple….except that it’s not.

This new finding, this PURA gene gone wrong, it’s anything but simple.

Thirteen years without a diagnosis and now we have one. That’s a lot to take in.

It feels less like closure and more like a new beginning.

And speaking of beginning, this new diagnosis has taken me back to Aidan’s early days. I had so many questions and no one really had answers. I was mostly overwhelmed, scared and grieving. Those emotions are remembered deep in my bones and have been quick to surface and pull me down.

Now Aidan has a diagnosis, unofficially. This comes with a new set of questions, a whole new language – truncated genes, alleles, transcription – and still few answers.

I’ve met five other moms who have children with the same genetic variants as Aidan. These are the people I longed for in my early days when my son was born before Google. We’ve been discussing our children’s similarities, sharing scientific journals, asking each other questions. It’s exactly what community should be.

I want to invite them over for beer and nachos and a long weekend of talking and laughing and most likely crying too. I want to meet their children and see if I can detect that shared message tucked away in their 5th chromosomes. Of course we’re spread out all over the globe and they may be super classy so perhaps we should have wine and chocolate and borrow some fancy table clothes. But they’ve survived traumatic medical events too, so beer and nachos and wine and chocolate it is.

There are moms with young children in our group and I am reminded why we did genetic testing in the first place; it became less about Aidan and more about the future and potentially helpful scientific discoveries. I suppose I knew they were there all along.

I’ve felt very torn about my story. On the one hand, I want to hug these moms and say, “There is so much hope and you will find depths of yourself that you didn’t know existed. You will need  that strength to survive hard things and you will. You will survive and thrive. Your child will be ok. Not walking and talking is not the same thing as not having any power to explore the world and discover and have fun and learn and communicate and love.” On the other hand, I’m not entirely sure that would have sounded like hope to me in the early days. I think I’ve become exactly the person I needed that I didn’t really want to know. Hope should feel bigger and yet it still takes up all the space inside me.

I found my sherpa too, my been there done that mom who will stand with me. She’s raising a teenager with a rare genetic diagnosis, popped out a baby then rocked a black dress at a foundation function, participated in a genomics conference using big fancy science words, then swore just the right amount about her entire journey to me on the phone. She’s holding hope for me in my heavy new beginning.

I went on a date with my husband last week. Our dates are rarely what they should be. We crave lightness and intimacy and romance on demand, which can seldom be delivered. I failed in parenting the night before. My precious Liam sat down next to me and asked me about my day. I was too caught up in the frenzy of the need for us PURA moms to do something and the overwhelming science of what I’m trying to understand. I ignored him. I carried all of that failure with me on our date and cried over my pasta. Garreth doesn’t quite feel the weight of this new journey, the strain of the questions and the burden of responsibility. I cried a little more, asking him why genes are so complicated and wondering when the waiter would be brave enough to bring our drinks over. As is often the case, the tears led to laughter.

None of this is simple. I’m excited to be on the cutting edge of science and I’m grateful that I’ve found other moms on the same journey.

I’m also remembering trauma, holding hope, and trying to make sense of it all.

The Stop Sign in Aidan’s Genes (PURA GENE)

I have something special to show you, a little piece of yourself.

But first let me tell you why it’s so incredible to me.

My son Aidan was born 13 years ago with an undiagnosed developmental disability so for 13 years I’ve been watching human development in slow motion. The strength of our muscles, the authority of the brain, the power of the body to heal. The same brain that’s made it difficult for him to walk and impossible for him to speak, has also given him the cognitive ability and dexterity to drive a power wheelchair and find other ways to communicate.

For 13 years Aidan’s medical team has been searching for a cause of his medical issues. For 13 years we’ve come up empty handed.

Until now.

Six months ago Aidan’s whole exome was sequenced and we found two genetic mutations.

Allow me to show you your PURA gene:

MADRDSGSEQGGAALGSGGSLGHPGSGSGSGGGGGGGGGGGGSGGGGGGAPGGLQHETQELAS KRVDIQNKRFYLDVKQNAKGRFLKIAEVGAGGNKSRLTLSMSVAVEFRDYLGDFIEHYAQLGPSQPPDLA QAQDEPRRALKSEFLVRENRKYYMDLKENQRGRFLRIRQTVNRGPGLGSTQGQTIALPAQGLIEFRDALAK LIDDYGVEEEPAELPEGTSLTVDNKRFFFDVGSNKYGVFMRVSEVKPTYRNSITVPYKVWAKFGHTFCKYSEEM KKIQEKQREKRAACEQLHQQQQQQQEETAAATLLLQGEEEGEED

Each of those letters represents one of the 322 amino acids on your PURA gene. You had no idea how complex and amazing you are, did you? This is a very specific code of instructions. I can’t comment much on the science partially because it’s all still confusing to me and also because the PURA gene has not been studied enough in humans.

Now let me show you Aidan’s PURA gene:

MADRDSGSEQGGAALGSGGSLGHPGSGSGSGGGGGGGGGGGGSGGGGGGAPGGLQHETQELAS KRVDIQNKRFYLDVKQNAKGRFLKIAEVGAGGNKSRLTLSMSVAVEFRDYLGDFIEHYAQLGPSQPPDLA QAQDEPRRALKSEFLVRENRKYYMDLKENQRGRFLRIRQTVNRGPGLGSTQGQTIALPAQGLIEFRDALAK LIDDYGVEEEPAELPEGTSLTVDSKRFFFDVGSNKYGVFMRVSEVKPTYRNSITVPYKVWAX

Where you have an N Aidan has an S. These both have similar functions and so this variation may or may not be a problem. However, where you have a K, Aidan has an X. Look what happens after the X. Nothing. X is a genetic stop sign. Aidan has incomplete instructions and that is definitely a problem.

These are de novo mutations in Aidan, more specifically, he did not inherit them from his dad or me. Many of us have changes in our genes that are of no particular consequence.  But sometimes it’s life altering.

As genetic testing becomes more affordable and readily available, we will be learning more about previously undiagnosed children. This conversation is going to become more commonplace. We will all need to work together to understand what we learn. While there is enough information about the PURA gene to believe that it’s causative in nature to Aidan’s medical issues, there is not enough information to give Aidan an actual diagnosis.

There is work to be done. Research. Studies. People looking into microscopes, gathering information, and writing long, in depth papers.

This is why their works matters to me:

Aidan Back Surgery 0298

Photo: Rick Allen

I am 13 years into this journey and no longer in trauma mode. I have the endurance to fight Aidan’s medical battles and the privilege of celebrating his achievements.

But there is some mom in a NICU somewhere whose child has a genetic variance that could be causing problems. This is my moment to help her, my chance to reach back in time a little and remind myself that I’ve never really been alone.

I hope that you will join me.

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Here’s how you can help:

1. Share this post. If you doubt the power of social media, read the article, “Hunting Down My Son’s Killer” which brought families and researchers together and eventually led to the formation of the Grace Wilsey Foundation which is committed to fighting this particular disease. Their journey is chronicalled in this New Yorker article. So please, share.

2. If your child has a genetic mutation on his/her PURA gene, I would very much love to hear from you.  teamaidanrocks@aol.com

3. If you’re a scientist who would like to suggest reading for me or any other information, I would greatly appreciate that as well.

For another great read from a parent with a stronger science background, check out Dana’s post here.

Take all of the scientific information with a grain of salt as I’ll take metaphors and colorful words over codes and patterns any day. And thank-you to the REAL Dr. Bowie for ongoing   help. (Yes, longtime readers, their are two real Dr. Bowies in the family and neither one of them is me.)

Food for Thought

IMG_3327Food for Thought – April 21, 2014 Edition

Undiagnosed Children’s Day is coming up this friday and I want to share what I’ve written in the past. You can join us by wearing Blue on friday and posting on Facebook or sending me an email.

Undiagnosed Children’s Day 2013 – probably the most comprehensive piece I’ve written about why it matters.

Elevator Speech – Because sometimes you need a tidy answer.

Inventing a Day – What’s happening this year for Undiagnosed Children’s Day

Genetic Testing – on my response to people who can’t believe Aidan doesn’t have a diagnosis….and some science.

Undiagnosed Children’s Day – from Dana of Uncommon Sense