The Stop Sign in Aidan’s Genes

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 priviledge 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.

*******

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.)

 

Waterless ALS Awareness

I believe that everyone has something to give and every gift matters.

If you’ve been hanging around this blog for awhile, you know that our community built us an accessible home addition. It took financers and builders, cleaners and cooks, painters and designers and everyone in between. Our volunteers were aged between four and eighty.

So this week’s Ice Bucket Challenge left me both very excited and a teeny tiny bit frustrated.

First, if you haven’t been on Facebook, people are filming themselves dumping buckets of water on themselves, making donations to ALS foundations, and calling on their friends to do the same. People are talking, money is being raised. That’s the part that has me excited.

Then some people were called slaktivists because they probably didn’t make a financial donation, didn’t quite know much about the disease, or seemed to be more interested in their social media presence then actual fundraising.

Really? Facebook is being used for something great and we need to put a damper on that? Boo hiss.

We absoultely need money to fund research and a cure for ALS and other diseases. Money is essential, but let’s not mistake that for the only valuable contribution. One of my favorite aspects of our building project was seeing so many people give in the way they were able. If we shut out people who are not financially able to give, we’ve lost a great resource and perpetuate some sort of shaming statement about money and worth.

There has been a call to just write a check and skip the water dumping. There is certainly validity to that request but it leaves out one important aspect of this campaign….being seen. Yes, this activity is a gimmick, but behind that gimmick are real people who deserve to be seen and heard and valued. I can imagine what it feels like this week to be a person with ALS and realize that people are talking about your cause, noticing, raising awareness. I can imagine because it’s how I’ve felt on Purple Day, “Look, Epilepsy is getting it’s moment in the spotlight. People care.”

So I’m ready to make my contribution. It’s a cold rainy day outside so I’m not pouring a bucket of water on my head, but I do have something to give….information.

If you’re not really sure what ALS is, read this article which states that ALS

is a neurodegenerative disease that affects nerve cells in the brain and the spinal cord, leading to muscle weakness, loss of the use of arms and legs, and problems with speaking, breathing, and swallowing.”

You can also check out the ALS Association website which defines the disease, helps you find a local chapter, and of course has a link to make donations.

And to put some stories to this disease, check out these personal blogs:

April’s ALS Express, The View from Rick’s Window, OK So Far, and a team of bloggers on MDA/ALS Magazine.

Instead of calling out names of friends to make a donation, I’m calling out all of my readers to just simply click on one of these links and read it. (But of course you can dump water on your head and make a financial contribution if you’d like because I stand by my statement that every gift matters.)

Here’s my last contribution – I’ve sat on this side of the computer screen on Purple Day and Undiagnosed Children’s Day and have watched as Facebook lit up with purple and blue respectively. No one was asked to donate money, but I know that on those days people considered how Epilepsy and other medical challenges really effect a family and told others as well.

They…you are not slacktivist. You are my people and you make me feel less alone, and that my friends, is priceless.

 

 

 

Home Again Home Again Jiggidy Jig

The truth is, the doctor gently stroked Aidan’s hair the entire time he explained recycled blood and intubation. He remarked several times that we’re a team and would make decisions regarding pain control together.

The truth is, Aidan’s nurses were exceptional. They were calm and friendly, fully present and competent. They patiently answered our questions and accepted our observations. They encouraged us to call at 2am just to check in if we needed to.

The truth is, the hospital stay was not that long, only six days, considering that Aidan’s back was cut from top to bottom. Garreth and I split our time. The team helped us managed Aidan’s pain and taught us how to move him. It can be quite stressful to hold your own child in your arms and know you’re causing him discomfort.

The truth is, we got out early. The discharge team had to scramble a bit to get paperwork in order. Last year we opted to stay an extra day because I was not comfortable with homecare. This year, I knew that recovering at home would be easier on all of us. We wanted our ticket out and because we proved ourselves to be capable, we were released.

Though we are deeply grateful for all of these things, we couldn’t help but stride out of the hospital singing: I got 99 problems but you won’t be one!

So we’re home now and Aidan is recovering remarkably well. We’re remembering the incredible amount of energy it takes to do nothing after an adrenaline crash. I showered and got dressed one day, but mostly I’ve been walking around in my “lounge pants” which are decidedly NOT pajamas. Aidan has been sleeping quite a bit, but also sitting up and sometimes even smiling. Today’s big event was removing his bandage. His scar is nicely closed up and will win every “mine is bigger than yours” contest around.

It’s taken me four days to write this post. I can’t be sure it’s full of complete sentences and I think I might be drooling. Garreth and I sleep with one ear open and kick each other to indicate who needs to get up for midnight meds. We have no recollection of how we survived the newborn years, but then we remember we survived hip surgery and know we can do anything. I even told my PT we need t-shirts: “Don’t mess with me; I survived hip surgery” with the corresponding, “Relax, it’s just spine surgery.” This is so much easier, but still…..

Aidan is spending more time awake and just got up on his actual feet for a few moments. We’ve seen him smile too. Of course, all I could get on the camera was Liam’s goofy face and Aidan, oh so serious. Enjoy anyway….

IMG_6961 IMG_6962

P.S If you like the snarky pop song gimmick you’ll love a Love Song for Insurance.