......LARSEN SYNDROME!
The pediatric geneticist at Rush Hospital here in Chicago is positive.
Let's go down the signs and symptoms:
* Joint dislocations (especially of the hips, knees and elbows) - yep, all of the above dislocated on both sides
* Hypermobile joints - the child could be a contortonist
* Depressed nasal bridge - that just means he has a cute tiny nose with a tiny upper lip
* Prominent forehead - I teased Paul when we met Henry that Henry had his daddy's hariline ;-)
* Widely spaced eyes - which are absolutely adorable
* "Spatula-like" thumbs - we wondered if these were a Ukranian thing or something else, now we know
* Cleft palate - check. But it is not too bad of a cleft. The surgeon says one procedure with an overnight hospital stay and he will be good!
* Curved spine - yep. big time. 110 degrees. probably his most severe problem and one that will need serious surgery (think metal rods and body casts) in the not-too-distant-future
* Cardiovascular anomalies - no. thank the good Lord. Henry's heart seems to be just fine!
It is rare.
How rare? you may ask, as did I.
The geneticist looked at me and said, "Very very rare."
The only way to get a completely 100% diagnosis is genetic testing that is done at one place in the US. They require a payment of several thousand dollars up front and then you chase your own insurance to get some of that money back. We are obviously not so thrilled with this option.
The genetics team at Rush is trying to get Henry into a research study happening somewhere in the world that wants to include Larsens patients, so they took pictures of him and his x-rays and will see if he qualifies to be included. If so, then they would pay for the genetic testing.
What is the treatment for Larsens?
You treat all the symptoms.
He has a cleft palate. You fix it.
He has a curved spine. You fix it.
He has dislocated joints. You fix them.
What is the long-term prognosis?
Some people with Larsens are in a wheelchair. Some ambulate with AFO's or special walkers. Some walk with no assistance after surgery and therapy.
So it seems we are being called to "go with the flow." Proceed with faith...and no real expectation of what will come.
First and foremost we need to deal with Henry's weight gain. The genetics team referred us to a pediatric nutritionist who can hopefully give us some more concrete guidance on how to put some meat on Henry's cute little dislocated bones.....
then we can begin treating his physical conditions.
But the emotional and intellectual healing has already begun and it is moving at light speed!
Henry is a VERY bright little boy! He is starting to enjoy having books read to him. He loves when his big brothers and sisters bring him different toys and items to explore (his current favorites are a pair of Luke's old glasses and a Lightning McQueen car that "zooms" when you pull it back).
He is becoming very attached to me and will cry and fuss if I walk past him without an interaction. He lifts his arms (as much as he can, they are kind of permanently bent) for me to pick him up. If I give him to someone else to hold while I am making dinner, he gives a few little screeches of protest (until they take him outside for a walk, which he just LOVES).
But the best moment recently was when I woke up a few mornings ago to feeling little fingers on my eyes, then nose, then my lips and going into my mouth. Henry sleeps right between me and daddy. And when he woke up before me, he began exploring his mama with a gentle touch.
I opened my eyes.
And he smiled right into them with his fingers still in my mouth.
Thank you Lord for Henry's misdiagnosis. It brought him home to me. To all of us.
