Wednesday, June 25, 2008

Thoughts and prayers for Blake

My nephew, Blake, who just turned 2, was diagnosed with cerebral palsy about a year ago. As he got a little older, though, he started having some other symptoms that didn't quite fit with CP. They started doing more testing, including genetic testing, and as of today, he was officially diagnosed with Potocki-Lupski syndrome (PTLS). This disease is so rare that there's not a lot of info on it, and what there is isn't good. (Seriously: if you're bored, try to do a search and see what you find. Other than the Baylor U. site, there ain't a whole hell of a lot.) While "fewer than 50 persons...have been described in the medical literature," they now predict that roughly 1 in 20,000 have it--they just never had a name for it before. According to my sister, 50% of those with PTLS have some degree of heart defect and/or kidney problems. (In all seriousness: it's a good thing I saved my kidney.) In fact, the next tests are an echocardigram to check the structure of his heart and a renal ultrasound to check his kidney function.

Katey is pretty shaken up. I'm trying not to be, as we don't know for sure what this all means yet. Either way, please keep Blake in your prayers. He's been through SO many tests, trials and struggles in just 2 years, and it looks like that was only the beginning.

13 comments:

Anna said...

I'm so sorry to hear that! I'll be praying for him, his family and his doctors that they can find ways to help him. Poor kid-o!

Anonymous said...

Yeah, I told Katey not to panic til we know all the facts.

Captain Obvious

Renee said...

I just read her email, too, and am so heartbroken for them. Seriously, how much can they have on their plate at one time? Blake and the whole family are in my thoughts.

Renee said...

LOL Deb (not about Katey/Blake, but the C.O. signature)

keesh said...

I will for sure pray for him...that is a lot for a little 2 year old. goof for you for staing strong!

Fred said...

Blake will be on my prayer card on Sunday.

Jen said...

Some of you received this email:

My sister sent me a link to a blog from a parent of a PTLS child. She recently went to Texas to participate in a PTLS study (they may be paying for Katey and Blake to go and do the same thing) and they met with Dr Potocki (one of the doctors who discovered it). Here's what the mom wrote about part of that meeting.

"At that point, Dr. Potocki & I went out to the hall where she began to show me her slide presentation on PTLS. We got to slide 6 (of 64 or so) and it was a photo of a teen-age girl and one of the bullets said, "Mentally Retarded". I asked why it said that and Dr. Potocki told me of all of the PTLS kids seen to date, only one was not considered "mentally retarded."

HOLY SHIT. Only ONE kid so far with this disease has NOT been retarded. I read that they may be "developmentally delayed" and could be autistic, but RETARDED?

I need you all to double up on the prayers, please.

lotus23blossom said...

so sad jen, my thoughts are with you and your family.

Jen said...

except that the speech therapist also visited blake yesterday, and she said that as far as his receptive speech goes (which means what he can understand and process, since he still isn't talking), he was at a 2 to a 2-and-a-half year old level. So if he DID have something mental going on, there's no way that he could at or even above most kids his age--right?

Renee said...

I would lean towards what you just said... doesn't make sense. But since there are SO FEW diagnosed cases, hopefully there will be more and more NOT labeled as mentally retarded, Blake being one of them...

Renee said...

And that also speaks to what a great job katey's doing as a mom, and really working with him. I'm so proud of her!

Jen said...

Excellent point, Renee (on both counts)

Anonymous said...

My son is 11 and has PTLS. Right now he is sitting in front of the TV playing with his Star Wars figurines and complaining about his dog's bad breath. It's a lazy summer morning. He does have special needs. But he is funny, playful, affectionate he is learning all the time and I'm hopeful about his future. And I'm so proud of him. - The early years are hard and scary. I'll be praying for Blake that his needs are met. It sounds like he has a wonderful caring family and that will make all the difference.