Anyone else with/have family with rare conditions?

[antelopevalley]

Just a bit fed up tonight. We have in my family a very rare genetic illness that DP has passed on to our children. It was undiagnosed in DP until after we had our second child, as at that time DPs symptoms were very mild and had been wrongly diagnosed as a very common condition. DPs condition has since deteriorated and both DCs have clear symptoms.

I know lots of people have health conditions. But just a bit fed up that this one is so rare. The NHS website does not even feature it and there is still a lot not known. For example, there is a recognised increase in one type of cancer as a result, but nobody seems to know how much the risk is increased by.

And most medical staff have never heard of it. I had to take DD yesterday to minor injuries unit where an x-ray diagnosed a broken bone. As they were splinting the bone I asked her if it was hurting her limb. The nurse confidently said it would not. I said yes it could hurt her - due to the condition she has. And I thought to myself the condition I tried to explain to you that you ignored me talking about.

The name does not help. The name is similar to a common non-serious condition, so lots of people just do not listen and assume I am talking about that. This condition is potentially far more serious and can in the worst cases leave children unable to walk ever from a very young age. Nearly everyone ends up with very reduced mobility at some point as well as other symptoms. This includes fatigue and can include issues with some organs.

If they had something people understood slightly more like spina bifida, I feel there would be more understanding from others. As it is I am often treated as an over-anxious mother until the children can not physically do something, or have bad symptoms, and then the person is all shocked at how badly they are affected, School were really bad for this at times.

I was just wondering if anyone else where there is a very rare disease in their family knows what I am talking about and understands it? Not really looking for anything more than that. Thanks.

That sounds really difficult to deal with, OP.

I have osteogenesis imperfecta type I - inherited from my mum and my brother also has it. Nothing on the NHS website about it either. I think it's about 1 in every 30,000 people so would count as rare.

I suffered a lot of fractures in childhood, have loose joints and suffer from fatigue but have been relatively ok since the onset of puberty. I broke both my legs when I was learning to walk and crawled in two casts. My older brother was diagnosed when he broke several ribs as a young baby and my mum was investigated by social services before they discovered he had this condition.

A lot of people don't understand or have never heard of my condition, and I don't get any follow up for the ongoing problems it sometimes causes me. I've seen a rheumatologist once I think in the last 20 years.

We've had a lot of misunderstandings from medical staff over the years, so I can completely empathise with your experiences. It sounds like you are a great advocate for your children's health.

I'm not sure if this is helpful or the sort of response you wanted, but I just wanted you to know I do understand how lonely it can be when people lack understanding of rare conditions. Sending my love 💐

My mum has a really rare genetic condition that also severely affects her mobility. It’s recessive so me and siblings are all carriers but luckily not affected. The thing that I find hardest really is that it’s affected my mums life so so much that I think it’s touched her personality aswell, in a secondary way, if that makes sense. It means she is very resilient and mentally strong, but it affects everything we do together and now as an adult I dont feel like we can really enjoy time together like we used to. It is very very hard, sending you a hand hold. There have been some benefits to it aswell.. she is a staunch feminist and that’s been great to grow up with. Despite the struggles she has had an epic career, went to one of the best universities, done a PHD, then far out earnt by dad and all the other women I know. Xo

*my dad, that should say! X

Can I ask what the disease is?

I have a rare bone disease, its called Multiple Hereditary Exotoses (HME or MHE) Its benign bone tumours and limb deformity.

@picklespark thank you I appreciate that.

@sjxoxo I am sorry to hear it has affected your mum's personality. I suppose it is inevitable that anything difficult over a long period of time will have an impact.

@Friarclose sorry to hear you have a rare disease. The one in my family is so rare that it would be identifying, sorry. I should have name changed for this really.

DS has a weird chromosome wonkiness. When he was younger I found it hard that no one could give me any indication of what to expect. One half of it is more common so we got all the doom of that prognosis, but I had to do lots of research myself and ask for certain monitoring. I have no idea what impact it'll have in later life (like fertility etc) and altho he's well now, the reality is there is no long term prognosis.

My DD2 was born with a genetic condition that has a stupid name thanks to the names of the guys that discovered it. It is totally life limiting, she is registered disabled, and yet she’s the cutest baby around (aged 18 months but looks younger) and I am constantly met with ‘it might not be that bad’ when she is older. We know the future will be hard we just don’t know exactly what it will look like. I’m so sick of people saying look at what you do have tho. We have lost our future as a couple; individuals and as a family - we know all the things we will never be able to do, and that she won’t work or live alone, yet I’m expected constantly to be happy to have her and focus on the positives. So not quite the same but can feel your frustrations and as someone who deals with medical professionals’regularly’ I feel your pain and am sorry :(

My cousin does, and its very hard to deal with. Everything you have said resonates deeply. Sending much love.

Tell them to p off @lydiangel83 . You can love your girl more than life itself and still mourn the life you expected to have. In fact you HAVE to mourn it I think in order to move through it. Of course you're grateful for every day to keep her but it's normal to not be grateful life is so hard xx

Not a rare condition but one that can be underestimated in its severity - eczema.

I have it as does my child.

For many it's an itchy annoying inconvenience.

For others it's absolutely debilitating, involving wet wraps, steroids with side effects, infections, hospital admissions.

When I say DS/Myself can't do xyz because of eczema it's often scoffed at - example: the dog won't hurt you...but actually your pet dander might cause us to end up in hospital or at least trying to get back on top of our skin condition for weeks (whilst being in considerable discomfort/pain).

So I hear you OP. Different situation but I understand the minimising and frustration that brings.

Yep. I collect them
Consultant said he looks at me and sees zebras as I like the conditions he can't spell
Autoimmune neutropenia (primary) is my main rare one
Add cauda equina to that and cholinergic urticaria

Yes, I've got Agenesis of the corpus callosum. Waiting on another diagnosis (or two) for rare conditions. But probably won't get one, ever according to my consultant.