Rare Disease Day
Posted on February 28, 2017
Rare Disease Day takes place on the last day of February each year and aims to raise awareness of rare medical conditions.
Having a rare disease, or having a child with a rare disease can be very lonely; you may not know anyone else with the same condition, information and support can be hard to come by and often healthcare professionals struggle to know how best to help. There are between six and eight thousand different conditions which are classified as rare (less than 1 in 2000), it is impossible for healthcare professionals to have extensive knowledge of them all.
Dame Anne Begg told us at an awareness event organised by NHS Grampian this morning that she didn't meet another person with the same condition as her until her late 30s! We have many more options now to share information, educate others and offer support with access to social media, the world-wide web and with so many fantastic patient support organisations out there. Just this morning I made connections with Natalie from Genetic Alliance UK whom I hope to work in partnership with, as well as a lovely lady who has finally received a definitive diagnosis for her daughter who has been in and out of hospital for nearly 16 years.
Two mums have kindly agreed to share their stories, please take the time to read their testimonials and spread the word about Rare Disease Day!
Luke, by mum Elaine
“Luke is 6 and has a rare Chromosome Disorder called IDIC 15. This basically means he has an extra piece of chromosome in every cell in his body, causing many issues, mainly neurological. Luke is non-verbal and doesn't understand anything we say, he is very unstable on his feet, has autistic traits and a sleeping disorder.
His condition is very rare, there are less than 1000 known cases worldwide. His paediatrician once said to me that 'you know more about Luke's condition than I do', so we really do feel alone sometimes.
Luke was born a happy healthy baby boy, but when he was a few months old I started to think something wasn't right and at 6 months took him to the doctor who said he was fine, 'just a lazy baby' she said. However, at 8 months he was referred for a specialist assessment. What followed was an awful year, not knowing what was wrong with our baby. Aged 2 years and 4 months he was diagnosed with isodicentric 15q (11.2-13.1) duplication syndrome. So rare it doesn't even have a name! So, we call it IDIC 15.
We were given absolutely no information on this condition so I became a mum on a mission. I trawled the internet for days trying to reach out to other families and now have contact with people all over the world in a similar situation to us. Amazingly I was put in touch with a family in Aberdeenshire who have a child with IDIC 15 and he's a year older than Luke.
Having a child with a rare condition has been an incredibly steep learning curve and it has change my life beyond recognition. It has made me much better person and I'm grateful for every minute I have with him as we don't know what the future holds.”
Alicia, by mum Jade
“Alicia and her twin sister Mackenzie were born at 26 weeks old. Alicia has Deep Vein Thrombosis (DVT), which is not very common in 8 year old girls. To keep the clots away, she is on lifelong Warfarin. Without this, she is at risk of developing further clots. She has chronic pain which will never get better. Alicia’s condition affects her every day. The clots are in her abdomen and all the way down her right leg. Because of this, her leg is swollen as the blood can’t flow like a normal person’s. This can be very sore and uncomfortable for her. Being on Warfarin means she has to get a blood test every week to check her INR. This is important as it will tell us how thin her blood is and how much Warfarin she will need. Understandably for an 8 year old girl, Alicia sometimes doesn’t want her INR to be checked. It can be a struggle to get her to take her medication and we have had a few meltdowns! She sometimes asks why she was the one to get DVTs and not her sister Mackenzie, which is so difficult.
Her brother and sister are so good with her and understand how careful they have to be due to Alicia being on blood thinners. She is an amazing girl and copes amazingly well most of the time. Both of my girls are amazing, they have had to fight since day one and Alicia is still fighting.
She doesn’t let her condition stop her from doing the things she loves and the thing she loves most is football! Her and her brother Cody play for our local football team and Alicia was picked to be captain a few weeks ago. She is a big Dons supporter and her favourite player is Shay Logan."← back