For All the Parents In NICU Right Now With an Undiagnosed Child
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.
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 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 didn’t 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’s enough information about the PURA gene to believe it’s causative in nature to Aidan’s medical issues, not enough information to give Aidan an actual diagnosis exists.
There’s 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:
I’m 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’s 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.
You are not alone. I hope that you will join me.
And sign up for what we hope will be your favorite thing to read at night.