Rare Disease Day

[OddBoots]

www.rarediseaseday.org/

As tomorrow is Rare Disease Day I wondered if anyone here has or has a partner, child, parent or someone close to them with a rare condition they would feel happy talking about.

A few of us posted in a thread a few days ago about becoming disabled as an adult and it was interesting to hear and share about how it has an impact on our lives. I'm happy to talk about my condition but I thought I'd hold back for now.

My ds has GEFS+ which is connected to Dravet syndrome. Ds had febrile convulsions until he was 13.5 but no brain damage. My family has had gefs+ for many generations but gefs+ has only really be recognised for about 10 years.

I have EDS (type unknown). It is crazy when you start to realise just how many rare illnesses there are, and the struggle people go through for diagnosis.

BeautyGoesToBenidorm - I'm sorry you have to wait until April, if you have decided to be tested it must add to the worry to have to wait to do it.

Your family must live life always on edge tumbletastic and crackedphone. I'm sorry for your loss, crackedphone.

weegiemum - we have a lot of overlapping symptoms, I hope you are able to get the stem cell treatment. Is your drip a type of immunotherapy?

Apparently 3 of my diseases count as rare. One only affects 7000 worldwide which explains why I haven't found much support online.

Yes my drip is IVIG (intravenous imminuglobulins).

Stem cell will be a few years, it's currently only in London for my condition for those not reacting to Ivig, but it will be rolled out as its successful, and I've talked to my consultant about it to get in the queue!

CrazyDuchess I have Myasthenia Gravis too!

My dad has pulmonary arterial hypertension about 15-50 per million people have this.
I have pulmonary fibrosis about 2 in 10000 have this however as I have never smoked I'm even rarer

Thanks oddboots. Yes we live in the moment, constantly watching and waiting for the next seizure. Can't plan anything, can't take DD anywhere unless close to hospital.
Her seizures cause problems with breathing so even though we are almost 7 years down the road every seizure is scary as we don't know if it will take her away.
When we say epilepsy some people assume it's fine as some epilepsy is controlled. Our dd's is very unlikely to ever be.

Thank you OddBoots - yeah, now that I've finally made the decision to go ahead with the testing, it feels like forever away. I'm caught between needing to know, and not wanting to wish away the time I have NOT knowing, if that makes sense!

Hello Thisagain - it's it great fun - are you symptomatic at the moment? Is it generalised or ocular?? Alway fascinating to meet other sufferers

I was diagnosed 21 years ago (when 25) and the symptoms started when I was pregnant with my first child. I have generalised MG. I was put on mestinon (and had lots of symptoms at that stage, legs giving way, slurred speech, double vision etc) and also had a thymectomy. I wouldn't go on steroids until I had my second child (was also having fertility treatment), which I finally did. I've now been on steroids 13 years and have not had symptoms since. I'm now on 4mg perdnisolone a day and 150mg Azathiaprine and am symptom free.

CrazyDuchess how about you?

Diagnosed about 10 years ago - when I was 22. Started as ocular. Had a couple of periods of remission. Currently just on Azathioprine and mestinon - steroids make me crazy!!

I have HNPP (Hereditary Neuropathy with Pressure Palsies) an autosomal dominant genetic disorder, thought to affect 1 in 20 000 to 50 000 people. My myelin nerve sheath is very fragile and sustained pressure will demylinate peripheral nerves. I don't have it too badly and can avoid most triggers but do have sustained nerve damage in my hands. No treatment as yet, but stem cell therapy may in the future.

I was very hyper on the higher doses (highest was 70mg per day) but fine on a low dose. They have also diagnosed me with Rhuematoid Arthritis but I am pretty much symptom free of the steroids I was taking anyway for MG. They diagnosed me because I had sore knuckles! To be honest, it hasn't always been quite as plain sailing with the MG, but since my maintenance dose of steroids has been sorted (last 10-12 years) I've been fine.

fuckweasel sounds a bit like me, my myelin has died in some areas and they're not able to predict how it will go in the rest of my body. My hands are damaged and I find eating, writing, holding quite hard. But you just get on ......

My mum has Erythropoietic protoporphyria (EPP), she only had a name for it when she turned 36 after years of being told it was psychological. Yes because blowing up like a balloon if the sun comes into contact with your skin is something you can 'will' upon yourself isn't it??

Runningoutofideas
Does it happen every time your mum goes out in the sun?
I have had a similar reaction but only a couple of times when my arms and hands swelled up.

Sorry Bruffin I have only just noticed your post. Yes it used to but she isn't too bad now she has some pills she has to take but she still gets caught out on most sunny days, unfortunately the pills are causing problems with the rest of her body now . It also affects her if the sun shines through a window on her and she said those long strip lights do the same but not as bad as sun. She starts off tingling, then itching and then she just ends up swelling she feels like her blood is boiling. Her arms are covered in scars from when she was younger (it started when she turned 2).

I would get it checked out because there are quite a few different types and it can start at any age.

DS 10 has Emmanuel Syndrome. She has numerous health problems and requires weekly immunoglobulin infusions. I think this is a rare disease.
Good wishes to you all.

I have an SDHB gene mutation: it was discovered after two younger brothers developed tumours in childhood (pheochromocytoma/paraganglioma). Further screening revealed a silent tumour in my Aunt, a tumour in another sibling, and a brother has, sadly, recently had a recurrence (that's the criteria for it being malignant). My maternal grandmother died of Gliobastoma Multiforme back in 1985, so that is highly indicative of where it came from.

There are several hundred of us in the world with this mutation, and we are apparently one of 2-3 families in the U.K. However, it's very likely that there are people living with silent mutations that will not, or have not yet, manifested themselves.

My lifetime risk of cancer is about 95%, and I am screened annually (MRI, bloodwork, pee in a big bottle for 48 hrs ... urgh). I am 34, and presently symptom free. It may stay that way.

It is not like the BRAC gene in that I can have an operation (the cells from which tumours spring are all over the nervous system, so would be filleted in manner of fish!).

On a daily basis, I don't give it much thought because, well, what can you do? Nothing: I trust that screening will detect anything before it becomes a massive problem, and there is no reason to suspect it will be diagnosed at a very advanced stage.