AIBU to think we should have been diagnosed before now?

[DodgyGenes]

NC but regular poster.

I've just this week been diagnosed with a genetic condition. I'm in my late 20s and it explains all of the numerous things that have gone wrong with me medically over the years. However, it's also evident that a parent and (deceased) grandparent had it too - and it's probably what killed my late grandparent.

I only found out because of an offhand comment from a Dr in A&E about something being a bit odd and then lots of subsequent googling. The specialist has now confirmed my suspicions.

I've been told I'll need treatment to hopefully safeguard my future health, and I've been told not to get pregnant until I've had that treatment and genetic counselling - the summary of which will probably be "don't have kids if you don't want to inflict the same thing upon them because there's a 50/50 chance they'll get it". However, I'm not sure I'll be given the treatment because the function of a relevant internal organ has already been significantly affected, and that's contraindicated with the only available treatment. Had I been diagnosed a few years ago that would have been different.

If I'd never seen a Dr in the relevant speciality, I'd understand how it slipped through the net, but

• I've had major surgery done by a specialist in the relevant area of medicine, who just declared the issue he operated on idiopathic (occurred spontaneously) because he didn't bother digging any deeper into my history
• we've all (3 generations) got the facial feature which is a hallmark of the condition. Not immediately obvious to the untrained eye but immediately noticed by the specialist.
• the condition isn't so rare as to be unheard of (1 in 15,000 of the general population). I'd heard of it before, but only a more severe subtype, and I'm not medically trained.

AIBU to be a bit pissed off that no one picked up on the condition until I started googling?

Why do you need to be so vague about the condition? Just name change fgs.

Yanbu to be angry but yabu to expect any sort of proactive diagnostics within the NHS.

I have had to basically investigate and diagnose my own health issues every single time (some very major) and then either prompt my GP and refuse to back down on tests, or book with a specialist consultant at Spire every time.

They simply don't have the structure, the time, money or broadly educated enough staff at the first and second lines of treatment. And getting past the gatekeepers of 3rd is where you generally have to either wait 6 months or pay and wait a few days.

Tbh as you aren’t naming condition hard to know but Dr’s do not know every condition . So it would all depends on if symptoms were been treated .

The specialist is that .

I do though imagine if you have damage to Organs due to not knowing that will bring up all sorts of emotions

Very well, as I've already name changed - it's osteogenesis imperfecta aka brittle bone disease - but that's actually a bit of a misnomer as it's a disorder of the collagen and affects lots of parts of the body, not just the bones (and you can have it but only have a handful of fractures in your lifetime)

It's not something I'd expect a GP to spot, but I've had major reconstructive surgery on my spine before, carried out by a consultant orthopaedic surgeon FFS. He just treated a symptom without considering if there was an underlying condition. I've also broken more bones than I should have.

Given your update I agree; I would expect a specialist to have diagnosed that. I'm not a medical expert at all, but I'm aware of the facial feature fgs.

I have a friend with multiple health issues, including crumbling bones, palsy & MH problems.
Their health has significantly worsened in the past three years, and googling symptoms suggest Fibromyalgia or Lyme's disease.
However, because of their MH issues, their GP is reasonably "dismissive" ( said something about friend thinking they felt worse because of their MH), and won't test for Lyme's because there is no bite /rash.
Seems to me that they should change GP but where friend lives, GPs are thin on the ground, and MH support is abysmal.
I would expect a trained professional to look holistically at symptoms a patient was showing, particularly if the patient had had multiple visits, hospitalisation/surgery and was still presenting as I'll

*ill, as in 'unwell'

I thought you had a change to your eyes with that condition so I am surprised it wasn’t noticed by the earlier surgeon.
I can understand why you would feel angry.

Whether you have a late diagnosis or not I have no idea but I would imagine your story is fairly common for people with rare diagnoses.

1 in 15000 is 5000 people in the UK - so not only will most GPs never see anyone with it, neither will most orthopaedic surgeons.

I'm guessing you have the blue sclera which the specialist immediately noticed.

The best person to ask would be your specialist to find out if yours is an unusual story. After my quick google, I suspect most people (including doctors) think of the severe subtype and presume that if you have got to your 20s without a diagnosis of OI, you haven't got it as it's the sort of thing diagosed in the first 2 years.

Probably there are quite a number of people in your situation with the less severe subtype as undiagnosed adults or having late diagnoses by chance.

I thought you had a change to your eyes with that condition so I am surprised it wasn’t noticed by the earlier surgeon.

Yes - all three generations have / had that. I think the Drs just assumed that we didn't have OI because we weren't fracturing every five minutes / with little trauma, even though you can have the mild form (type 1) and only rarely fracture.

I am very sorry for the late diagnosis, but unfortunately this is part and parcel of being rare. There is a very supportive OI group on FB if you feel the need to talk with others.

My DD’s bone lesion was spotted incidentally on an x-ray when she was 14mo. Initially they thought it was a healed fracture, so they ruled out bone cancer, interviewed us about abuse and neglect and concluded it was OI. A few months later we saw the OI specialist who was surrounded it was not OI but didn’t know what it was. Next specialist said whatever it was, it wasn’t doing anything so forget about it, but three years later wanted to remove it. Second opinion said it’s a lesion not a fracture, and it’s Fibrous Dysplasia, so a no-touch tumor. Two years on from that diagnosis and now the FD is being questioned as the lesion hasn’t the size of an FD tumor but it’s changing in appearance in line with a non-oscifying fibroma. Conclusion: diagnoses of rare diseases are really tough and you’ll quickly become an expert yourself. OI, FD, MAS are often misdiagnosed, the OI group is full of parents who were accused of abusing their children, heart breaking stories.

Best of luck OP, and don’t discount having children in the future. You do have options including pre-implantation genetic testing.

ChazsBrilliantAttitude blue sclera are present in some people with OI, usually the ones more gravely affected. Currently there are eight variants of OI, although not all of them have been conclusively identified.

Best of luck OP, and don’t discount having children in the future. You do have options including pre-implantation genetic testing.

You make a good point - but I looked it up following your prompt and discovered I could only get 3 cycles on the NHS, and you're not eligible if you've already got an unaffected child - so forget giving your first child a healthy sibling.

I understand there have to be limits, but it seems like a bit of a false economy in cases like mine, where (I assume) I could pop out living and functioning but relatively expensive OI children naturally.

Apparently a cycle of PGD costs £10k for self funders, but I know one of my surgeries alone cost the NHS £50k, so only letting you have one healthy child via PGD does seem to encourage people to play the genetic lottery for subsequent children, and the NHS will inevitably end up picking up the tab - a limit of two healthy children would seem fairer.

Naturally, earlier diagnosis wouldn't actually have changed this for me - the only difference would have been if my parents had chosen not to have kids (I doubt PGD was available in the early 1990s), but PGD isn't exactly a magic bullet.

Good job I wasn't exactly sold on the idea of having kids anyway.

the OI group is full of parents who were accused of abusing their children

I didn't really start fracturing until my mid teens, but I was always covered in bruises with no idea where they came from (still am actually). I remember being quizzed by primary school teachers as to where all these bruises had come from, though I didn't realise what they were asking until years later.

On a separate note, you'd think there would at least be a perk to all this, but I can't even get a blue badge 😂