Today we had a neurosurgery appointment and a echocardiogram of his heart.
The short version of our neurosurgery visit: Gannon does not need intervention to remove the fibrolipoma in his spinal canal.
The long version: maybe someday if he has worsening bowel or bladder or walking issues, they may possibly remove it but it is unlikely that it would cause issues – especially not his low muscle tone but it could cause bowel/bladder issues. If Gannon had a dimple or a pitch of hair or a mark on the bottom of his spine they would be more concerned. If his spinal cord was just a little longer they would be concerned. If he was walking on his tip toes this would be a concern. But for now, we are calling it an incidental finding which is ironic because 3 weeks ago we thought that was our “answer.”
The short version of Gannon’s echocardiogram: Gannon has a dilated aorta.
The long version: When a doctor suspects that a kid has Ehlers Danlos, they send them to get an echo. There is a very specific part of the heart they measure and monitor. There is one type of EDS has this specific abnormality – that’s vascular Ehlers Danlos. Gannon has this abnormality. This is also the kind of EDS my cousin has.
There are several different types of collagen. Vascular EDS effects collagen III – found in the lungs, intestines, and blood vessels. They make vessels and organs weak and more prone to rupture. They make organs more likely to rupture. The statistics are scary. Here’s a paragraph that was difficult to read:
I’m not an expert. I don’t have all the information I need yet. Genetics is our next stop, July 28th at the University of Iowa. I know that we will now be adding cardiology to our team and Gannon will need close follow up – probably frequent echocardiograms. The big risk we are worried about is that a vessel could just burst at any time – looking at statistics there’s an 80% chance of that before he turns 40 IF this is what he has.
I want to be very clear – I am the one making these connections. The ultrasound tech says that other forms of EDS don’t typically have this dilation of the aorta – only the vascular type – I mean that’s exactly why they wanted this echo in the first place – to find what we found. While our “primary” at U of I STRONGLY suspects a connective tissue disorder – likely EDS, no one has sat us down and explained what this really means and what significance this finding is.
At the end of the echo, the radiologist came on and said, “I can’t tell you much more than this but we do have to tell you because there isn’t a cardiology follow up today. There is some dilation of the aorta, there’s a scale we use from -2 to +2 to gauge the dilation. -2 is very small and constricted, +2 is considered on the more dilated end, 0 would be normal, Gannon is a +2. If you want to know more you need to schedule a cardiology follow up, we will need another echo of him in about 2 years.” I tried to ask questions and he said “you need to schedule a cardiology follow up.”
So that’s what I know. Gannon probably won’t be able to play sports (especially contact sports) or lift weights. We need to be careful with him as his organs would be more prone to rupture (if he has this).
Here is a link to a very helpful article. Looking through the symptoms is startling. He has so so many of the symptoms of vascular EDS. It just explains so much.
Kasey Musgraves says it best, I’m happy and sad at the same time. I’m almost giddy with excitement knowing that we are so close to understanding our sweet sweet boy. I’m so sad that this is the kind of EDS he probably has. Any other kind is much “safer.” This is “the bad kind.” Out of all 13 kinds, this is the one (probably maybe, won’t know for a long time) he has (possibly.)
Are you as confused as I am? Me too. I’m hoping to touch base with Center for Disability and Development can clarify this for me tomorrow. They are our point of contact managing Gannon’s case right now. I’ll keep ya’ll posted.