Our Journey Raising Two Children with Special Needs

This blog chronicles our life raising two children, Nicholas 14, diagnosed with Prader-Willi Syndrome and Weston 17, diagnosed with Autism/Asperger's/ADHD. It's the ups, the downs, the joys, the sorrows and most importantly, the beauty of living a life less perfect, a life more meaningful.




Wednesday, January 30, 2013

Missing Paternal Genes but Not the Paternal Instinct

My eldest son may indeed be ready to quit school and enter the working world.

But it is my youngest son, Nicholas who is already itching to become a father.

He is kind, loving, nurturing and anxious to heal others.

In fact, his latest healing activities involved applying a tourniquet to the couch



 His hand
 
 
 
And of course, his shoe



He is anxious to start a family, and will often reminds us that he is busy caring for his make-believe son named "Mok".

This strong paternal instinct seems interesting to me, since as a child diagnosed with Prader Willi Syndrome, he is missing some paternal genes.

OK, it is time for a quick lesson in genetics.

Humans typically carry 23 pairs of chromosomes, one set inherited from Dad, the other from Mom.

In individuals diagnosed with Prader Willi Syndrome, there is a small portion of genes that is missing from the 15th chromosome, the one specifically donated by the father.

It is the paternal genes (or father's genes) that are missing.

If the missing gene segment was located on the mother's 15th chromosome (or maternal genes) the child would be diagnosed with Angelman's Syndrome.

Got it?

OK, now to complicate things a little.

This did not happen to Nicholas.

Why, then is he diagnosed with PWS?

Nicholas received 2 copies of the 15th chromosome from his mother. He received both from me and none from Pete.

Because of this, the copy he should have received from his father, is not "turned on" so as a result, he also suffers from missing paternal (father's) genes and was diagnosed with Prader Willi Syndrome via uniparental disomy or UPD.

Kind of confusing, I know.

But fear not dear readers, I am happy to report, Nick's missing paternal genes have done very little, if anything to diminish his paternal instinct.

For Christmas, Nicholas received this DVD:


It is the touching story of a baby dinosaur named Littlefoot whose mother is killed by a Tyrannosaurus Rex. He meets some new friends and guided by his mother's spirit, begins his adventure to find the Great Valley.

Nicholas fell in love with this movie.

He insists now that we call him "Littlefoot" and placed this interesting contraption on my kitchen counter this morning.



What is it you ask?

These plastic pumpkins, taken from a strand of Halloween lights, (hidden in my hallway closet that he loves to ransack) are Nicholas's babies.

The wire rack?

Why it's their nest of course.

Ask him the names of his babies and he will correctly identify every last pumpkin.

He asked me if I would care for his babies while he went to school and suggested I cover them with a blanket.

Yes, my loving son may be missing some paternal genes...

But he has been blessed with an abundance of paternal instinct.