Rare Disease UK Enewsletter

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Undiagnosed Children's Day is coming next Friday April 25th

SWAN UK (Syndromes Without A Name) will host its first ‘mystery-themed’ awareness day on Friday 25 April to help support children with undiagnosed genetic conditions. It is estimated that 6,000 children with undiagnosed genetic conditions are born every year in the UK. One in 25 children is born with a genetic disorder and it is estimated that 50% of children undergoing NHS genetic testing may not get a diagnosis.
To get involved in Undiagnosed Children’s Day, companies are invited to hold a mystery-themed day at work, where employees dress as their favourite TV detective. It could be as simple as a trademark moustache, or a full Poirot, Ms Marple or Sherlock inspired outfit.
If you want to get involved and raise money, visit the SWAN UK website for more information or email ■■■■■■■■■■■■■■■■■■■■■■■■■■■■■■

Adrenal Meeting on 14th June

UCLH & GOSH CAH Parent and Patient Support Group have organised a day of meetings that will bring together patients and families with Congenital Adrenal Hyperplasia, Addison's Disease and Hypopituitarism. The event will be looking at the intricacies of cortisol replacement and emergency care. A number of experts will be in attendance and the organisers hope to formulate a plan for Gold Standard care for patients, adults and children, with these conditions. Download the flyer for more information and get in touch to sign up.

North West Patient Day on 15th November

The North West Allergy and Clinical Immunology Network have announced the development of a regional North West Patient Day. It is proposed that the inaugural event will take place on Saturday 15th November 2014 and will involve all primary immune deficiency and hereditary angioedema patients across the North West region (Royal Liverpool & Broadgreen University Hospitals, Central Manchester Foundation Trust, Salford Royal Foundation Trust and Lancashire Teaching Hospitals). If you would like to get involved in developing the event, get in touch with Craig Simon by email or on 07917895237.

Don’t forget to have your say! Welsh Consultation open

The Welsh Implementation Plan is out for consultation, open until 23 May 2014. It’s an opportunity for patients and patient organisation representatives to have their voice heard by the Welsh Government so please do take this opportunity to respond. Further details about how to do this can be found here.
The Welsh Government in collaboration with Rare Disease UK is hosting a consultation event to canvass the views of patients, families and patient organisation representatives with an interest in the Welsh Draft Implementation Plan for Rare Diseases.
The event will take place on 14th May between 1.00pm -3.30pm in the Heath Hospital Campus, Cardiff. Lunch will be provided for delegates from 1.00pm and the event will start promptly at 1.30pm. Please email Emma, our Development Officer in Wales, for more information or if you would like to register for the event. Please note that there is limited space available so places will be allocated on a first come, first serve basis. We look forward to hearing from you!

Very informative. Thank you!

for energy, I have been taking liqiuid vit B12 complex,,,and calcium +d3...also, I use a llannel blanket at night, with other blankets to keep warm...neurapath seems to be a part of cerrabelum ataxia...does antone have the sensation of cold wet in your lower extremities? and it's never wet, yet it has that sensation...so I wear knee socks...andeven gloves because my hands and finger's are affected...walking is really difficult, because of my co-odination, on left side, balance is off...I have an insert in shoe in view if my left leg shorter than right...have to wear shoes with a little wedge, or one and one half inch heels...only the tie ones are more stable...I do carry a steel cane...it help a little, only I'm going to try to find a stable baby stroller for walking...forget the walker ..doesn't work for me...where do I buy an vest for balance?...not sure 8lb one would be for me, i'm only 5 ft 2inches, and weigh 107lbs sopping wet....only thing with a baby stroller, walking around with an empty baby stroller ,maybe I'd seem koo koo..?..does anyone have any suggestion's....?going to sleep on a regular pattern, or at least, being in bed,by the same time each night helps....my only real dilemma is walking I've fallen so many times and don't want to fall again ...my balance is not stable..without a support, cane etc, I walk into people...and they think I'm drunk, and I don't drink...except for H20....dark chocolate seems to be helpful...laughing also...funny movies, never violent tramatic movies etc...not good for the spirit...and to me spirit is everything...like , LOVE,IS THE ONLY REAL REALITY.....ONE..LOVE......NAMA"STE

Hi Gina,

i am taking a trolley, with or without seat, for stabilisation and transport. I am already used to it, and it is helpful.

http://www.amazon.de/Einkaufstrolley-100kg-geeignet-Treppensteiger-...

Actually i do not need a walking stick, but it s easily possible to combine a stick with a trolley,- each on one hand. My trolley is never empty, because i always need to transport things for my basic needs. Furthermore i put a backpack into the trolley, which gives me the opportunity to wear it on my shoulders and to do extra things from my shopping tour into the trolley.I have also travelled with this devices. They are practical. I cannot carry heavy things, because i am loosing my balance then.

But in the trolley i can transport also heavier items.

Nice regards,

Akita


OK AKITA....I LIKE THE TROLLY...PHOTO'S, ONLY I CAN'T UNDERSTAND THE LANGUAGE...LOL...SO I WILL HAVE TO FIND AN AMERICAN TROLLY...THEY ARE QUITE CLASSY, NATURALLY COMING FROM EUROPE....I LIKE THE ONE WITHOUT A SEAT , BUT WOULD LIKE A PLACE TO CARRY ITEMS ETC..THANK YOU SO MUCH...I'LL BE IN GOOD SHAPE WITH ONE OF THESE TROLLY'S , ONCE I FIND OUT WHERE I CAN PURCHASE ONE IN AMERICA...ACTUALLY, THEY ARE PROBABLY INEXPENSIVE IN EUROPE...YOU ARE VERY CONSCIENTIOUS, AND HELPFUL...BLESSING.S MY FRIEND, AND THANK YOU!!!GINA.
Akita said:

Hi Gina,

i am taking a trolley, with or without seat, for stabilisation and transport. I am already used to it, and it is helpful.

http://www.amazon.de/Einkaufstrolley-100kg-geeignet-Treppensteiger-...

Actually i do not need a walking stick, but it s easily possible to combine a stick with a trolley,- each on one hand. My trolley is never empty, because i always need to transport things for my basic needs. Furthermore i put a backpack into the trolley, which gives me the opportunity to wear it on my shoulders and to do extra things from my shopping tour into the trolley.I have also travelled with this devices. They are practical. I cannot carry heavy things, because i am loosing my balance then.

But in the trolley i can transport also heavier items.

Nice regards,

Akita

Hi Gina,

i have just written an answer for your trolley question in another thread. You will find it, as you get alerts from each answer in a threat you have been participating in? (I am getting this).

The language used is German.

I suppose a lot of these trolleys are produced somewhere else in the world. Have seen one delivered from Hongkong.

Today i slightly prefer the trolleys without seat, too, because those which have got a seat are much heavier to carry/handle.

The trolley is useful also for heavier items for me, too. But you have to bear in mind that the load you really can transport with a trolley is limited; When the load would be too heavy the axles could break (at least in a typical Viennese, cheap model).

When i have to climb up staircases i often have to put some things out of the trolley and go up for a second time to my appartment with is situated on the 2nd floor..

Have a nice day!

Akita

DEAR AKITA...YOU ARE VERY CONSCIENTIOUS AND HELPFUL....I HAVE FOUND MANY ON EBAY, HERE IN AMERICA.....SO I'LL FIGURE WHICH ONE I'D WANT...I AM HAPPY YOU GAVE ME INFO ON THIS.......I AM GRATEFUL TO HAVE FOUND SUCH A FRIEND AS YOU, AKITA.....I THINK THE TROLLY FOR ME, IS THE WAY TO GO...I DO DRIVE, AND THE ONLY PROBLEM I HAVE, IS WALKING AND BALANCE WITH THIS FORM OF ATAXIA, CERREBELUM A. I'LL LET YOU KNOW HOW THE TROLLY WORKS FOR ME WHEN I DO GET ONE , BECAUSE I REALLY WANT TO KEEP ON MOVING, AND HAVE THAT SUPPORT WHEN I WALK, OR GO ABOUT...THANK YOU AGAIN FOR YOUR HELP...BLESSINGS TO YOU, FROM GINA...YOU HAVE A BEAUTIFUL DAY!.....GINA

Oh, thanks, Gina,

wishing you the same! Hopefully this device will be the optimal solution for you.

Have a good sunday,too.

Kind regards,

Akita