People around the globe recognize April 16 as Wolf-Hirschhorn Syndrome Awareness Day. This rare chromosome disorder is a deletion on the short arm (p-) of the 4th chromosome. In shorthand, it’s often called WHS or “Four P Minus.”
April… the fourth month of the year.
P… the 16th letter of the alphabet.
Wolf-Hirschhorn Syndrome impacts 1 in 50,000. So, yep. Pretty rare. It was a term we had never heard of until our oldest was born. For the first seven days of Elsa’s life, we knew that doctors suspected she had a chromosomal abnormality. They just didn’t know what it was.
On day eight, we heard the diagnosis. I pulled out my old reporter hat and took notes through chest pains and bleary eyes. Focus on the details. Get it right.
Wolf, like the animal?
Yes.
Hirschhorn? Is that all one word?
Yes, it’s hyphenated.
OK. Okay. Breathe.
Collapse.
Into my husband’s arms, into my parents’ arms, into my siblings’ arms, into my savior’s arms.
Wolf-Hirschhorn. Such a precise name. No wiggle room. No ambiguity or uncertainty. What had seemed a vague possibility became final, immovable, permanent. With that phone call, a new, mysterious, question-filled life began for two brand new parents, who didn’t know the first thing about babies, let alone parenting a 4 pound 15 ounce miracle. Every preconceived notion we had about parenthood dissolved.
Meanwhile, ELSA.
Her name became my exhale.
Her life became our everything.
This blue-eyed beauty waltzed right into our two-bedroom condo and filled it with love and FIGHT. Fighting to get food into her body and, with equal vigor, to keep it out. Fighting to hold up her gorgeous face with all the strength her frame could muster. Hardly ever crying, be it needles, surgeries or seizures.
The rawness of these early memories and early years defined how I viewed WHS for a long time. I guess they always will, to a degree. But they were merely the starting point. Today, I can see beyond the next checkup and milestone and into the textures and challenges of our normal family life, which in many ways isn’t so different from the lives of our friends.
One reason we are in a strong place today is because of the support of website wolfhirschhorn.org. This month, I’m updating our Family Location Database, so that folks new to WHS can be introduced to others who live near them and build supportive friendships. It’s one of the greatest services our website provides, and it’s truly an honor to make these introductions.
On WHS Awareness Day, many people wear jeans with a hole in them to signify rare genes and the WHS deletion. Feel free to join us! But also know that by simply reading this, you are helping to raise awareness. THANK YOU.
