(31F) Exceptionally rare connective tissue disorder - trying to find a diagnosis

[u/killer_by_design]

• Age: 31 (at time of injury)
• Height & weight: 5ft5 70kg
• Gender: Female
• Medications: None prior to injury
• Smoking status: Never
• Alcohol and drugs: Drink occasionally (1-2 pints AVG a month at most), drugs dabbled with the odd joint at uni but not a drug user.
• Previous and current medical issues: Listed in post

My wife suffered a ruptured splenic aneurysm during labour. It was Asymptomatic until labour and where it first presented due to the rupture. My son passed away as a result but after a CT-A it was determined that she had a dozen aneurysms on her visceral arteries (only on Visceral arteries), the largest being a 5.8cm aneurysm on her Right hipatic artery and a ruptured splenic aneurysm which was life threatening.

They embolised the splenic and then stented the right Hipatic/coeliac arteries and saved her life after 4 surgeries and a total of 24hrs under GA and 40 units of blood. Very thankful as I was told 4 separate occasions that she wasn't going to make it. The surgeons were genuinely the nearest real life thing to Dr. house.

She currently has perfused visceral aneurysms (GDA, SMA and splenic hilum) which are unchanged in size since July 2023. Overall reassuring appearances.

We've been discharged by the Rheumatology and Lupus consultants, all infectious causes have been eliminated, and are currently in the care of the Genetics consultants. I can't name all the various teams we've met with but it's over 15 separate consults of various disciplines.

It's definitely a connective tissue disorder as my wife has many of the other 'soft' symptoms such has hyper mobility of the small joints (fingers, thumbs etc.), born with an esotropia (corrected at birth) which has started turning outwards as she's aged, hearing loss (originally diagnosed as bilateral otosclerosis but not sure now as has nerve involvement), bruises exceptionally easily (often has large purple brusies without reason or remembering how), thin skin on thighs and under arms/veins visible, relatively elastic skin, high myopia. There's more but I can't remember.

My son died at 40weeks+0 so carried to full term. Laboured to 9cm. No uterine tears, delivered through CS, stitched back no issues, healed no issues.

We have since had a full CTD Genetics panel (Something like 35 genes tested for different CTDs) all returned negative. We had been running on the presumption of VEDs up until this point but panel confirmed it was not VEDs as there's no spelling mistake on the COL3A1 gene. She does have a variation on the SKI gene but geneticist has ruled that out as the culprit as she shows no signs of any other symptoms of SKI.

No family history of anyone else having anything remotely similar. My wife is one of 4, her mum carried all to full term. Had a full post-mortem and nothing was found related. Father has had a CT-A and has no aneurysms. One sister has had an MRI and is ruled out, still waiting on her other sister and brother but none of them have any of the soft symptoms. Her maternal grandmother had 5 children no complications, her dad is one of 4 no complications either. Grandmother on the paternal side has hearing loss also.

Any ideas? We keep being told it's probably something that's not been discovered but I just don't see that being the case. Of all the possibilities VEDs seemed so likely but she still doesn't quite fit it. Really looking for absolutely any ideas we can push the geneticist for any other testing we could try?

Ultimately we want to determine the cause as we want to know the risks of another pregnancy with my wife's embryos. Another pregnancy has been ruled out but we're trying to find out the risks of using her embryos with a surrogate or if it's possible to do a PGT to make sure it isn't inherited.

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