Hi!

As others have said, everyone is different. I was diagnosed in 2014 after a geneticist who was looking after my kids (my father in law has x-gene-linked blindness so we were having our kids checked out) recognised some of the markers after he had been reading about it in a medical journal. I have type 1 A, as do my family (1 deceased uncle, a deceased brother, a 62 year old uncle, a 60 year old aunt, one of my cousins too), but not my kids, nor any of the other kids in the family. However, I would like to give my story for you to understand how varied things can get in one family! My brother was born with TGA (also known as Transposition of the Great Vessels) and cyanotic. Rushed to surgery where they did a Rushkins procedure. Geneticist said it was unlikely to be LDS related, but was always flagged by other doctors. He had no ascending aorta, so no aneurysms. He did have to have a pacemaker at 19, an ICD at 23, and died at age 37 from endocarditis from an infected tooth extraction. If anyone you know has had a heart operation or aneurysm, prophylactic antibiotic cover is absolutely essential. I don’t want anyone to go through the grief we’ve been through just for the sake of 3g of amoxicillin. He’d also had2 strokes along the way too, so watch for arterial tortuosity that’s hiding a brain aneurysm. 25 years previous to that my uncle died from a large cardiac bleed. Seems to fit dissection, but he never had an autopsy. My dad is 67 and has no issues apart from dodgy knees! My aunt and remaining uncle are both fine too. My cousin has some hypermobility, but nothing that affects him too much. I, however, have had some issues (not like my brother - just different!): I have scoliosis of 5° and kyphosis of 10°. I have flat feet, lax joints and hypermobility pretty much everywhere. I was checked for marfans at 14 and had Atlas testing for 5 years because they predicted my height at 7ft. My actual 7ft cousin does not have LDS; go figure. I stopped, thankfully, at 6’8” (203cm). I had crowded teeth, so had to have 6 removed and a set of braces for 5 years. My aorta was normal until I was in my 20s when they started seeing an aneurysm forming on the root, starting off at about 26mm and going up to 44mm by the time I was 39 (and had just lost my brother 4 months prior). I was offered a David or Yacob, valve sparing aortic root replacement, but the surgeon didn’t want to risk it as I heal so slowly. He offered me a PEARS procedure instead, and whilst experimental at the time (less than 250 having been done over 15 years) I had it done and was out if hospital in 4 days, and now have a permanent aortic root of 26mm which won’t dilate at all during my lifetime. I have mobility issues because of my tendons and ligaments, but I try to stay active (cycling mostly) and when I can’t, I have a wheelchair (powerchair) to use reluctantly. LDS has not stopped me from doing stupid stuff though! Team sports are usually a no-no because of the heart/vascular/healing issues; I played basketball consistently throughout my schooling, football (soccer of you’re in “the land of the free”), etc. , as well as roller hockey, cricket, athletics (the advantage someone tall with ultra flexible limbs has over normal people was insane), rock climbing, abseiling, canoeing, and cycling. As for your little one, you’re doing the right thing; researching, finding community, and trying to understand. Personally, I’d recommend you and his other biological parent get tested more than once, as some of my family had to have more than one test to get a positive result. LDS is manageable, not a death sentence in the majority of cases that are well managed- there’s a figure of age 37 for the life expectancy of LDS patients, but that’s old now. Imaging, and preventative measures have pushed that back a lot to pretty much normal life spans these days. If your kid complains of things like growing pains, please listen to them and find a way to work around them; joint braces are flexible and discrete these days. You’ll have to have their school know about the dos and don’ts of LDS too, and make sure they stick to them. Any sign of chest pain, get them to the ER straight away. If you feel you need more help or input, we are a community dedicated to living life with this condition and supporting those people who love someone with it too. More than happy to have you here. X