Baer: Rare Disease Day 2013

Today is Rare Disease Day and many of you know that my sweet Baer was diagnosed in January of 2010 with Autism and in the spring of 2010 with Pitt-Hopkins Syndrome.  Today I am honoring him and all of his PTHS friends and his classmates and friends who have been diagnosed with a rare disease by posting his picture on facebook and sharing this blog post.  There are only around 200 diagnosis of PTHS in the world.  If you would like to know more about Pitt-Hopkins Syndrome, go check out the new and improved website HERE.

A little about Baer: Baer was born in July of 2007 weighing in at 9 lbs 3.5 oz and 20.5 inches long with 4 nipples and 11 toes.  He had a full head of dark brown/black hair, red skin, and fuzz on his shoulders and arms.  Baer was an easy delivery and was a dream baby.  He was happy, smiley, and beautiful.  None of the names we came to the hospital with for ideas fit him and in a round about way, James (who was then a few weeks from turning 2 years old) named his brother.  When he said we should name him "Bear" Spencer and I agreed that no other name would fit.  We switched the vowels to make it seem like more of a name and gave him my grandfather's middle name.

It wasn't until he wasn't meeting his earlier milestones like sitting up, rolling over, etc that we felt there might be something unique about Baer.  We told his pediatrician about our concerns and she referred up to an early childhood intervention program and Baer started getting therapy a few times a week.  The first few years of Baer's life involved many trips to Children's Mercy Hospital in Kansas City, where we lived at the time, for appointment after appointment to try and figure out what made Baer so unique.  In the meantime, Baer was still a smiley and happy boy and brightened the lives of anyone that took the time to be around him.  Waiting list after waiting list, blood draws, CT scan, eye appointments bi-montly, therapy, GI doctors, foot specialists, and genetics appointments went by and we didn't have a diagnosis.

Many people would ask me why I was so concerned with finding a diagnosis and telling me that it isn't good to put a label on children.  I would reply to them that in my ignorance of Baer's diagnosis, I don't know the best ways to help him achieve his highest degree of growth and happiness in life.  I wanted to know his diagnosis so that I could know the best ways to help him learn and grow.  Those feelings still sit in my heart as I have friends whose children are still undiagnosed and I feel for them

About a month after the boys and I moved back home to Montana to find a house, I got a call from his geneticist who had been continuing testing in Kansas City telling us that they had found an abnormality in the TCF4 gene of Baer's 18th Chromosome.  Baer's TCF4 gene mutated sometime in his development (either the egg or sperm he developed from).  Yes, you heard right....Baer is a mutant!! :)  This syndrome was very new to his geneticist and he asked if Spencer and I could come in for testing.  He wanted to know more about where this mutation came from.  Spencer was graduating in a couple of weeks from Cleveland Chiropractic College in Kansas City so it was going to be perfect timing because I would already be there for his graduation and to move the rest of our belongings home.  The geneticist found nothing in our genetics to connect PTHS to us and he told us that the likelihood of Spencer and I having another child with this same mutation would be extremely low.

Baer started walking at 3 years old...only a couple months after his diagnosis.  Baer is now 5 years old and continues to receive therapy at Pediatric Therapy Clinic and through school.  He LOVES to be tickled and played with, big dogs, WATER, just about any food, nature, sucking on rocks, and music.  He is a blessing we didn't expect in life but I can tell you that I wouldn't wish him to be any other way.  He is loved by every member of our family with a love that you couldn't begin to imagine.

Thank you for taking the time to learn a little more about Baer.  Also, I wish my husband another wonderful journey around the sun as today is the day of his birth.  He is our rock.

Namaste