Thursday, October 6, 2011

AND the diagnosis is....

......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.


23 comments:

  1. Teary eyed at the end of this post. I'm SO happy he is adjusting so well to your family. And SO thankful he was misdiagnosed!!! :)

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  2. Great news that he has a diagnosis, and that treatment is available. I'm sorry some of it must be so invasive, but I'm sure your family will get Henry through all of his future treatments with love and support! What a happy little boy!

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  3. Wow, that's terrific that he has a potential diagnosis already! I hope his doctor can get him into that research study so you don't have to pay for the expensive genetic testing. Love the family picture!

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  4. Praying for Henry and your family as you continue along the road less travelled. I can't wait to see God's plan unfold for Henry's life :)

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  5. I'm so inspired at the hope and smiles behind this post! I know it had to come from a place of pain- but the healing the Lord is doing is amazing and inspiring!!! I'm thrilled you have a diagnosis and the opportunity to fix so many of his symptoms. I'm overjoyed that he is attaching to you so sweetly and that he's enjoying books and cuddles! What an incredible witness your family is to the dignity of a person and the beauty of adoption!!! Praise God!!

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  6. So happy that Henry's misdiagnosis brought him home. But happier that you have a TRUE diagnosis to help him now. And even MORE HAPPY that his mind and soul are healing so quickly! Go, Henry, Grow!

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  7. Beautiful family! And aren't we lucky we live in a time and place we can treat these things?? Btw, did you know the monk who wrote the Hail Holy Queen Had a cleft palate?

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  8. Wow! I hope you're not too invested in a 100% dx - seems you've got all the information you need, a plan that will work, and does it really make a difference on his life if he is absolutely diagnosed?

    You are such a lucky family to find your missing piece. How wonderful that beautiful boy has found his way home to his loving family.
    Sam

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  9. Amazing news. . . so glad you were able to get answers so quickly that will let you quit worrying as much. Henry being so young is such a blessing in that he'll bounce back from his surgeries and have so many fewer memories of the restrictions and recovery involved. His emotional/social development is so very encouraging and SO sweet!

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  10. I LOVE YOUR ATTITUDE. I love that you recognize that this is one of those God things where you cross the water believing one thing and discover that you got on the wrong train but it was the RIGHT TRAIN after all!! I love God and His ways. I love that He has filled you with such a profound and deep love for Henry that no amount of symptoms can put a stopper on the overflow of love you are feeling. I love it all!!

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  11. That's great news that the doctors have figured out what the diagnosis is and will now be able to start treating him.

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  12. No matter diagnosis, Larsens or not, Henry is an adorable baby. I loved to hear how he gently touched your face while you were sleeping. Think of the difference you have made in his life. From a crib in an orphanage to a bed with mommy and daddy in it, to keep him feeling safe all the time. It sounds as if he is bonding great too. And to think that with you he will have access to treatment and the Larsen community, that can provide healing both physically and emotionally. I'm so happy he got to come home, that misdiagnosis sure was a blessing.

    Monica
    www.xmaswarrior.blogspot.com

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  13. Hello Carla & family,

    I found a link to a Cedars-Sinai page with all what is needed to enroll new patients in an ongoing research project about Larsen syndrome.

    http://www.cedars-sinai.edu/Patients/Programs-and-Services/Skeletal-Dysplasia/Larsen-Syndrome-Research-Project.aspx

    God bless :)

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  14. so happy for the misdiagnosis!! it got him home! :) praying for wisdom, guidance and love for him and you all!!
    hugs,
    Nancy

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  15. Tearing up here! Beautiful family, and so happy for the diagnosis! What a loving, loved little boy!

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  16. I still cannot get over the miracle of Henry's misdiagnosis! Leaves me speechless, really.

    Glad you have the true diagnosis now so you can move forward with treatment. I think Henry is going to thrive! He's just where he should be:)

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  17. Carla, so glad there are treatments--think of how much weight he'll gain after the cleft surgery--and looking at a little one that may or may not be able to walk in the future, of course you want what is best for them, but a human being isn't a human being based on his ability to walk! I love the story at the end. Glad he is attaching to your family so well.
    Peace, Susan

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  18. Wonderful news that you got a diagnosis, and now Henry is on his way to getting the interventions he needs! And wonderful family photo too!

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  19. Knowing something is always better than the unknown. Praying for continued favor with the doctors and insurances! So glad he is bonding with his Mama!

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  20. I am so completely thankful for his misdiagnosis in Ukraine! God knew exactly what he was doing in bringing that sweet boy home to your family!

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  21. Praying for you and your family. We adopted a little boy from Ukraine almost a year ago with some "special needs". God has done some amazing things for our son's medical needs and I have no doubt He'll show up for Henry as well. God Bless.

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  22. May I ask if you ever went ahead with the genetic test? And where was the testing done? I have a daughter with the same clinical diagnosis...

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