Ever since Jake was born, MANY doctors, specialists, geneticists, etc have been wondering what he "had." At 23 weeks pregnant we had the results from our Amniocentesis come back that everything was "Normal" genetically. Even after he was born, they sent out for more genetic testing and it came back "normal." Multiple geneticists at St Joseph's had various theories about what Jake really had. We even signed release forms because they thought he had some rare bone structure disease. Here is a photo they took of him for "research purposes."
After Jake passed away, we got more results. The "rare" bone structure disease can only test for about 25% of the cases, and that came back negative. The reason they weren't all in agreement about it is because of his internal organ issues, and the one "rare" test they were testing for usually doesn't have anything but bone structure issues. At that point they asked for our permission to send Jake's x-rays and info to Cedars-Sinai Medical Center to see if they could diagnose him.
About 3 weeks ago we got a letter from the clinical geneticist at St Josephs and she had received the results back from Cedars-Sinai! We thought they might have answers, but the only thing they could come up with was spondylothoracic dysplasia (bone abnormalities, generally relating to the spine). All of their tests came up negative for genetics testings. The only thing they could say is that the geneticist should "be very careful in counseling this family from a genetic point of view." hmmm....thanks for the answers! :)
Well, Cedars recommended (as well as the geneticist) to have Jake put on the International Skeletal Dysplasia registry. (Who knew such a thing existed!) After calling the ISD, they explained that so far they have over 350 skeletal anomalies that have been categorized and only 90 of those have been linked to genetics, but as they get more information and DNA, they continually find more links. We decided this would be great research, so we included Jake. She said they might have answers soon, or we might never get any answers, but either way, they were very happy to have Jake added to their list. They take in to consideration all of his bone issues, but also the internal organs (heart, kidney, placement of kidney,etc).
Every time we have asked anyone what they thought it might be, they all shrug, and even now, the only thing they can say about him is, it is JAKE!! Way to go, buddy! Keep them guessing! Statistically, it was probably just something that happened, because we have 3 very healthy children, and no family genes that suggest anything abnormal. So, those were our answers!
Sorry, this is long, but I wanted to get this out too. 2 weeks ago we met with Jake's Dr that performed his Catheterization that went bad. They went over the autopsy results. It was very interesting. As Tyler put it, they couldn't say anything that would bring Jake back, but it was good information to know. Tyler and I were both very nervous to go in to visit with him, but it ended up being pretty interesting. They let us see Jake's CT scan, color coded, and we could see just how small the left side of his heart was, compared to his right. They also showed us scenes from his actual heart surgery (the first one!) That was amazing, and it made me tear up to see his little heart beating. They explained some really good things to us, and tried to explain why he bled out so badly at that final surgery. They didn't have all of the answers, but I really liked how they weren't too prideful to say, "We don't know!" Overall it was a good meeting, and I was glad to finally get the autopsy results.
Anyways, sorry for the long post, but I thought some of you might be interested in what I have been learning about the past month! So, our diagnosis so far is: JAKE!
