Rare Disease Day 2017

Tuesday 28th February saw the 10th annual Rare Disease Day; a day for raising awareness of the thousands of rare diseases that affect 3.5 million people in the UK alone.

With the theme of research, and the slogan, ‘With research, the possibilities are limitless’, Rare Disease Day 2017 called for researchers, universities, students, companies, policy makers and clinicians to do more research and to make them aware of the importance of research for the rare disease community.

Climb member Harriet Macleod was interviewed by The Guardian Newspaper for a special Rare Disease Day supplement, to give an insight into growing up with PHP.  Harriet is now 23, and training to be a Dental Nurse:

“Pseudohypoparathyroidism (PHP) means the body cannot respond to the parathyroid hormone controlling levels of calcium, phosphate and vitamin D in the blood. Symptoms include low calcium and high phosphate levels, which can lead to dental problems, cataracts, seizures and tetany (muscle spasms). Type 1 is associated with short stature and obesity.

It’s a really strange condition; I have calcification on the brain, yet I need intravenous calcium infusions. As a child, I kept having falls, I’d pass out and be out for a while. The condition makes you small – I’m just under 5′ now with a 6’ foot brother and sister – but I was never horrendously overweight.  Even so, my mum used to get blamed for over-feeding.

When I was 12, Climb found me a pen pal of the same age, Holly, and we are hoping to meet later this year.  It was really nice for my mum to have other parents to talk to.  Holly and I used to write to each other all the time, now it’s social media, messaging each other at night. It’s helped a lot having someone who’s on the same medication, the family knows what you’re going through.  I recommend anyone with a rare disease get in touch with a charity and use social media for support groups and information. 

The past few months have been particularly rough, with weekly 10-hour hospital visits to get calcium infusions. It’s a nightmare being moved around from doctor to consultant, blood tests, wards where things can deteriorate fast for me while they work out what the results mean. It’s good to have some stability now they’ve got a grip on my care. I’ve just started taking a high-dose liquid version of the medication and that seems to be helping. As a child, it was a very controlled medical condition; as an adult, new things keep coming up. I get really bad pins and needles in my hands and feet, and facial spasms – it’s not good.

 Despite that, nothing stops me; my mum’s never told me I’m any different, she makes me think I can do anything I want. We’re a sporty family. I did the Yorkshire Warrior Obstacle Run and the Harewood Half Marathon!

When I’m not studying for my final dental nurse exams this year, I’m a bit of a shopaholic!  I’ve been working since I was 15 and I don’t spend what I haven’t got.  I also love travel, and I’m obsessed with going to pop concerts! I tried so hard to get Ed Sheeran tickets but they’d all gone, I am so disappointed.

The next challenge is being a bridesmaid at my best friend Lucy’s wedding this summer, I have a beautiful blue dress and ridiculous heels!”   

 

Our community really got behind Rare Disease Day on social media, sharing Climb’s posts (gaining reach of over 8,000 and over 4,000 views of our infographic video!  Fantastic awareness raising!) along with the official Rare Disease Day communications.  We have rounded up some of the stories shared by our friends, explaining how they are affected by rare disease, and what the day means to them:

 

“Rare Disease Day Awareness…long post but wanted to raise awareness of MCADD and our experience.

Our cheeky, happy Jack was diagnosed with MCADD (Medium Chain acyl CoA Dehydrogenase Deficiency) following the newborn heel prick test. When Jack was just over a week old I received a phone call (I was just heading out shopping) from a consultant in Bristol Children’s Hospital informing me Jack had a positive result for MCADD and we had to be seen in Bristol the very next day. She also said that Jack could not go more than four hours without food as it would lead to serious implications – break down of organs, seizures, coma or even death, and should he fall ill we must take him to A&E!  I felt my world coming down around me.  I’d never heard of MCADD and struggled to digest everything the consultant was telling me. I didn’t want anything to happen to my little man!

The next day at Bristol we met a team of specialists and learned what MCADD was and how to manage it.  MCADD is a rare genetic condition where a person has problems breaking down fat to use as an energy source. This means that someone with MCADD can become very ill if their body’s energy demands exceed their energy intake, such as during infections or vomiting illnesses when they’re unable to eat.  Problems occur because fat is only partially broken down, which leads to a lack of energy and a build-up of harmful substances in the body. MCADD is a lifelong condition that’s present from birth. It’s estimated to affect up to 1 in every 8,000 babies born in the UK and is usually picked up using the newborn blood spot test (taken from www.nhs.co.uk)

If someone with MCADD becomes unwell or doesn’t eat normally they need an ’emergency diet’. Jack has to have a high energy drink every 2 or 3 hours (day and night) when unwell or through the night if he’s hardly eaten in the day. We are yet to manage this at home (Jack has never taken the volume required at the required frequency orally) so Jack gets admitted to Gloucestershire Royal hospital to have his drink via NG tube or to have glucose by IV.

It has been a roller-coaster of a year and I’ve experienced emotions I never have before.  MCADD is a manageable condition and I know there are people out there suffering much much worse (but in my little bubble I felt it was the end of my little world).  The early years are going to be the toughest and although manageable it’s had a big impact on us – hospital stays and needing family to help out with Isabelle (not to mention being away from Isabelle), not feeling confident to leave Gloucestershire in case Jack gets ill (MCADD is so rare that many medical staff have never heard of it or treated it), the daily meal time struggles with Jack and even the impact that teething has on appetite! We are lucky that Jack’s MCADD was picked up from the heel prick test.

Jack is an amazing and strong little boy and is just like any other child. I just wanted to take the opportunity to raise awareness and also to thank those of you that have been there for us the past year.”   Jo Taylor

 

“Today is Rare Disease Day.   My daughter Alex unfortunately has 2 rare diseases Leigh’s Disease this is known as a Mitochondrial Disease, which affects the mitochondria which are the body’s power houses and can affect the body’s multi systems including nervous system, heart, bowels kidneys etc.  This is a debilitating illness which is also unfortunately progressive and for which there is no known cure.  She also suffers from Idiopathic Intracranial Hypertension, which is increased pressure around the brain, for which she has had to undergo surgery to fit a shunt to drain the excess cerebrospinal fluid.  Alex has good days and bad although the bad now often take over the good.

Just spare a thought today on Rare Disease Day for all those suffering, fighting and those that have grown their angels wings……. Maybe take a little time out of your day to find out more about a rare disease and how it affects daily life for people suffering and their families. Thank you for reading this, and sending much love and positive thoughts to all those suffering.”   Cheryl Harwood

 

“On World Rare Disease Day, I am so glad that there is so much support and information out there now for the children and adults diagnosed.  In all honesty it has sometimes been a lonely experience living with an illness like OTC.  As a child, there was nobody to talk to about it, no friends with similar disorders.  I try my hardest to be like everyone else, I work, I socialise but I cannot escape the fact that my disorder has left me an outsider, a woman whose life is dictated by a dysfunctional liver and the need to take so much medication. I know I’ve achieved a lot for someone with my illness and I’m proud of that but I also know this disorder will stop me from living life completely like everyone else. So if you have someone rare in your life give them a hug, they might need it. They are fighting an everyday battle just to try and live like anyone else.”   Sarah Helen Townsley

  

“My rare little princess!  Olivia’s just one in 70,000 affected by ASA which is a Urea Cycle Disorder. We don’t screen babies for UCDs in the UK and it’s a miracle that a swift thinking doctor and the expertise of Great Ormond Street Hospital saved her life. Today is Rare Disease Day and I’m sharing Olivia’s story to give hope to the newly diagnosed and to raise awareness.”   Emma Peterson

 

 

 

“Today is Rare Disease Day.  In 2005 I had my 4th baby and a few days after the newborn screening test my doctor phoned me and gave me the info over the phone that my baby had a rare disease called MCADD and I was told to get him to Great Ormond Street Hospital first thing the next morning, to feed him two hourly, and if he was sick get him straight to hospital or he could die. This was so frightening. I Googled all night and could only find the worst case scenario; my child could die.  There was no positives at that time.  The next day it was confirmed and also explained that siblings could have it.  When I heard the symptoms, I knew two of my other children would also have this condition and it was later confirmed.  In a way I was a bit happier knowing they had survived without treatment due to the fact I could never ‘starve a bug’.   I don’t know why but I always gave them Lucozade or Coca Cola, I didn’t know at the time but this kept them from metabolic crisis.  We have a medical plan to keep my boys safe, they are unable to fast and if they were sick would need to go to hospital and put on glucose, but they are all healthy and make me proud.  Those first years were a struggle but now things are easier.  I do worry more with the older ones now, as I’m not in control of their actions anymore but hopefully they will look after them selves as life is precious.  I am sharing my story today as it’s Rare Disease Day, and there is so much more support these days for us mums, thanks to medicine and awareness.”   Laura Mckechnie