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.

I have autoimmune neutropenia, cholinergic urticaria and hydradenitis supprativa!

Oh goodness hollinhurst, I hadn't heard of any of them but I have had a quick Google and that sounds like a lot to deal with. How do you find things day to day?

My 12 yo DS has Prune Belly Syndrome.

My son has Phenylketonuria which is a rare genetic condition that's present from birth.
The body is unable to break down a substance called phenylalanine, which builds up in the blood and brain. High levels of phenylalanine can damage the brain.
PKU is treated with a special low-protein diet, which reduces the levels of phenylalanine in the body and prevents brain damage.
PKU doesn't usually cause any symptoms if treatment is started early. If PKU isn't treated, damage to the brain and nervous system can lead to:
learning disabilities
behavioural difficulties
epilepsy. My gorgeous son is now 4 months old and doing fantastically his phe levels have finally evened out to what they should be. It was such a devastating blow when he was diagnosed with pku but were taking each day as it comes

I think this counts as a rare disease, only 50 diagnosis per year in the UK.

DS (2) was diagnosed with retinoblastoma, which is cancer of the retina, when he was 8 months old. His right eye was removed 5 days later. Thankfully he didn't need chemotherapy so his recovery was relatively quick, however had we have been aware of the symptoms and had our GP been more on the ball it could have been diagnosed months earlier and potentially saved his eye.

The urticaria is brought on by exercise/heat. I mainly ignore it as stressing makes me hotter and worse! Take 4 X antihistamines a day
Hydradenitis comes in waves, am waiting for surgery on armpit wound. Makes shaving/deo difficult and I can't exercise at the min in case I rip it
The neutropenia means I'm immune suppressed and the meds give me bone pain but hoping that will be under control soon

Dd2 and I have thyroid hormone resistance syndrome. It's a dominantly inherited genetic disorder. We've been involved in studies in Cambridge.

It's probably mostly of academic interest only though, it doesn't make us I'll

I suffer with Myasthenia Gravis- autoimmune neuromuscular disorder... fun times

I thought there would be quite a few of us with a rare disease as although each disease is rare according to a GSK tweet I just saw there are 6000-8000 different rare diseases.

I've just been looking up the diseases mentioned, I've heard of a few but didn't know a huge amount about them.

I have trigeminal neuralgia. If affects one in 10 000 people, usually those over 50. I was diagnosed with it when I was under 40.

I have CRPS - complex regional pain syndrome. It makes your nerves constantly send pain signals and report touch and temperature as pain as well. There are also effects on bone, skin, and blood vessels in the affected area.
Mostly, my arm feels like the worst sunburn you've ever had. At its worst, its bad enough that I would genuinely chop it off myself.

Me and at least one of my sons have ehlers danlos syndrome. One of my other sons has hydrocephalus,cleft lip and cleft palate.

elliejjtiny - there is a link between EDS and hydrocephalus isn't there? I have Tethered Spinal Cord syndrome as a result of occult spina bifida which has caused chiari syndrome and minor hydrocephalus all- my son has hypermobility which they thought might be EDS due to my condition.

If you don't mind me asking, what counts as rare?

Rare disease day say a condition affecting less than 1 in 2000 people

Eurodis says:
"In Europe a disease or disorder is defined as rare when it affects less than 1 in 2000 citizens"

My DD has PCDH19 epilepsy. It is a very complicated aggressive and drug resistant epilepsy. DD has seizures requiring hospitalisation from 2 to 8 times a month. There is no such thing as seizure control for her.

She also has microcephaly which I didn't know was rare until it was highlighted by BBC recently!

CMOTDibbler I have CRPS too - also in my arm. I know the feeling of wanting to chop it off - have even gone as far as asking my consultant about amputation . Now waiting for a referral to London for a spinal cord stimulator.

My dad has Huntington's disease, which around 8000 people in the U.K. have, and it's currently incurable. I'm being tested for it in April.

I have 3 nieces with Dravet syndrome. One of my nieces died at age 6 after health complications leading to her death. We are hopeful that our other nieces will have a longer and greater quality of life with minimal brain damage from severe epilepsy. they were diagnosed with this at a young age, before 6 months old. However some have their first episode of epilepsy at 12 months after being vaccinated. So can be mistaken as a reaction to the vaccine. However the vaccine is a trigger, as it brings on temperature and which is a cause.
If my nieces develop a cold or any normal childhood illness they risk severe epilepsy and brain damage. They have needed to be put in comas in a effort to stop and control the seizures and keep them breathing.
Getting too hot in the sun and too cold can also be a trigger. So we keep a careful eye on them in snow type weather or very hot days.

www.dravet.org.uk/

DS has DYRK1a gene mutation mutation. There are 40 of them world wide... All have developmental delays, epilepsy, autism, microcephaly... To name a few!!!'

I have CIDP (Chronic inflammatory Demyelinating Polyradiculoneuropathy).

My nerve endings were damaged by a viral illness and I have no sensation in my arms, legs or face. My balance is affected, and my "proprioception" - this means if I can't see a part of my body I don't know where it is. I can't close my eyes and clap my hands. I have extreme fatigue as well. And I can't stand up with my eyes shut - makes showering an interesting experience!

As I've no sensation in my lower body I have sexual dysfunction and urge incontinence. I'm only 45 and a lot of this affects me as a wife and a mum to dc aged 12, 14 and 16.

There's a treatment that might help (stem cell transplant) slowly becoming available in the uk and I get a monthly intravenous drip that at least halts the progress of the illness but can't reverse it. I'd love the stem cell transplant but as I currently get improve,net from the I've I don't currently qualify - I'm hoping as it becomes more widespread I will.

CIDP is diagnosed in around 50 people in the uk a year - under 1 in a million. I'd love to be one in a million but not in this way!

Corey - as my arm is largely non functional due to the original injury, I'd actually have more function with a prosthetic. But my hand surgeon told me that I'd be so high risk for bad phantom limb pain that he wouldn't advise it.

Dd2 and I have microtia - basically one ear each (outed!) It affects about 1 in 10000 people but when it's genetic is a lot more unusual. We had no idea she would also be affected and that it even had a name into she was born! Neither of the older DC were affected so it was a big surprise