PURA Gene and Rare Disease Day

Reposting for Rare Disease Day. It’s estimated that 1 in 10 people in the US have a rare disease. Having a rare disease means it can be more challenging to get appropriate and covered services and treatments.

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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:

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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.)

All The Days

Once upon a time and long ago I sat around feeling excluded when everyone was wearing their purple, blue, pink, green, red ribbons to raise awareness for CP, DS, cancer, etc.

I had a kid with no diagnosis, nothing to raise awareness about, no community of people who get it, no actual message to tell people to get.

I had a pity party which turned into an international day of awareness for Undiagnosed Children, because, as it turned out, there were a bunch of SWANS (syndromes without a name) out there. We will be making more noise about that on April 24th.

Then Aidan was diagnosed with Epilepsy and while it was not an overarching diagnosis for all of his medical issues, it has certainly been one of the harder parts of our journey. I quickly jumped on board to raise awarenes on Purple Day on March 26. I’ll be wearing purple again this year and watching pictures on Facebook and feeling included and supported. I believe that’s become an educational day certainly for me and hopefully for you too. I’m having deep thoughts about how I might handle it this year because it still feels incredibly important.

It turns out I’ve gone from zero days to three days. I suppose many kids like Aidan have multiple diagnoses and hence many colors/days/opportunities to raise awareness. This Saturday February 28 is Rare Disease Day. Since Aidan was found to have genetic mutations on his PURA gene, though there is not a lot of scientific study around this, he’s considered to have a rare or orphan disease. I have very little to say to help educate you but blue is the color, saturday is the day, for Aidan PURA is the gene and the 5th chromosome is where it’s at. You know you’ll be wearing blue jeans anyway so just spare a thought for those of us who are raising square pegs trying to fit into a round hole which effects everything from aquiring services to impacting prognosis.

Let me leave you with this cool video:

Our DME Miracle

You know how you feel about your hairdresser? How much money you’re willing to pay, how far you’re willing to drive, and how you won’t let anyone else near you with scissors? She just knows, right?

That’s how I feel about my DME guy. That’s Durable Medical Equipment for the uninitiated. I had to metaphorically kiss a lot of frogs before I found this guy and I’m keeping him. Considering the level of DME Aidan requires, and the amount of consulting, paperwork, and follow up phone calls involved, it’s important to have a good working relationship.

So when our lift first broke down, we tried to handle it ourselves. For reason that I won’t detail here, we weren’t successful. I put my DME guy on the case and within 24 hours a lift had our name on it. It’s crossing the Canadian border and we were expecting it to take between 4-6 weeks.

Well, it’s in Maine now. That is basically a DME miracle. We’re working on logistics this week. Garreth has started by taking out the old lift.

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I continue to be humbled by the generousity of both friends and strangers who have contributed to our lift fund. Would you consider joining us in this final push to meet this goal a little early?

In the words of Shaker and Mover Mallory Cyr:

Some of the biggest things I share in my presentations and my work, is the importance of community support, and that the idea of “resources” is basically a myth. In the system, independence and quality of life is a luxury, and that is why we all need to come together for successful transitions. Will you pitch in and help one of my blogging heroes, and Aidan? It’s a big brave step to ask for help. Come on interwebz.

And her World Changing mama Anna Cyr:

Once upon a time, there was an amazing young human who could not get into his house… Until other amazing humans stepped up and fixed that!! Wanna help?

You can contribute HEREThank-you so much for being our community and amazing humans!

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Though I should probably keep my DME guy’s contact info classified the way some moms    do with babysitters, I’ll share anyway. We use Tom from Black Bear Medical in Greenland, NH and also the parent company in Portland, ME.