Personal stories - Rare Disease Day 2022 Edition

Read some personal stories of people living with rare disease they wrote specially for to celebrate Rare Disease Day and spread awareness of rare diseases.


I’m Sam and I was diagnosed with ML when I was about 6/7.

As I went through my teenage years my health steadily began to deteriorate. I attended numerous hospital appointments for X rays, scans, physio, psychological assessments for school etc. ML affects most joints and organs of my body.

By the time I was 15, I’d had carpal tunnel, 8 Plates, dental surgery and two full hip and socket replacements with more surgery to follow as the condition deteriorates with age.

I’m 19 now and live a fairly independent life living with my family. I’m a full-time wheelchair user and I travel independently on public transport. I volunteer at the National Football Museum, Lowry theatre and with a Special Needs Sports group.

Although I’m quite happy and content, I wouldn’t wish this disease on anyone. I have missed out on so much that my friends are able to do, but I’m not bitter. We need to promote awareness of rare diseases and try to find a cure and therapies to help us.

His mother Shirley describes one event from everyday life:

One day we went out for some fresh air to a park we’ve been going to for years. There was a very tall slide in the playground, probably three sections/platforms high. Sam said he had climbed to the top many times when he was younger, but now he wouldn’t get past the first rung. I asked if he felt sad or bitter about the memory? He said ‘No’ it’s just the way things turned out.


I was diagnosed at age 3, with alpha-mannosidosis, had a bone marrow transplant at age 4. Some hobbies are hanging out with family and friends, arts and crafts, and playing with my dogs.

Being born with a rare disease means to me that even though I was born different, I am just like everyone else.

I am a host at Rafferty’s in Bowling Green, Kentucky and I am the founder of Presley’s Promise Homeless Outreach.

I have difficulties with being small, standing for long periods of time, some processing and some social awareness & some social skills. 


My name is Alessia and I am 11 years old. I live in the UK London; I like dance and art.

At the age of 3 I was diagnosed with Sialidosis after many tests and analyzes. At the age of 8, I was also diagnosed with  epilepsy, starting treatment with Kepra.

My health started to  deteriorate a year ago after I had Covid-19. I start using a wheelchair for a year and I am totally dependent on my mother or another adult.

Every day I try to enjoy as much as I can every day of my life and I fight with my whole life. I pray every day that God will heal me and give me strength. I hope that soon, we Sialidosis patients will be able to have a treatment that will make our lives easier.



I’m Matas and I was born in 2010 in Lithuania. At 2 ½ years of age, I was diagnosed with ML ll/lll.

After this I had regular hospital appointments. This diagnosis was a shock to the family, as they had never thought that there was something wrong till then. It was especially difficult because there was so little information and no cure.

I’m very cheerful, friendly, curious and careful. I have a little brother and a dog and I love them both very much.

Despite moving difficulties, I like to play table tennis and football. ML ll/lll mainly affects my bones, muscles, lungs and other organs. I might be shorter in height than others but they say I have a very big heart and that I’m very strong as well.

I like to say “Don’t worry, such is life”.

My family loves me to the moon and back and I’m very happy to have them.   ❤


I’m a 12yr old from the USA. 
I love being outdoors, listening/dancing to country music, and shopping. 
Even though Beta Mannosidosis affects my life with daily physical and mental challenges I still loves to laugh and be the center of attention. LOL.


My name is Karin and I was diagnosed with Aspartylglucoseaminuria in November of 1985. I’m 41 years young.

I enjoy doing LiteBrite, coloring, 24 piece puzzles, watching movies, and many other activities.
My very favorite activities are taking long naps and petting my puppy.


My name is Nur – I’m also known as Nunu or Noodlebug. I’m funny, cheeky and sassy and a total chatterbox.

I have an ultra rare title: I have two major diagnoses, one of severe Juvenile Idiopathic Arthritis and the other of Fucosidosis.

I had a double hip replacement when I was fourteen and I’m in a wheelchair, but I can still walk short distances although my Fucosidosis messes with my balance. I started college this year and I’m loving it.

In the past few years I had endured major operations, countless injections on a weekly basis, chemo, and these days a visit every month onto the wards at UCLH for infusions. I treat these appointments as social gatherings and hold court on the infusion suite.

In two weeks time I will once again prove that I’m a miracle, as I will surpass my predicted life expectation – in good health – as I will turn twenty years old.


Stephen and Lauren

We are siblings both with the ultra rare condition of Fucosidosis, but aren’t affected exactly the same.



I’m 29 and struggle with joint stiffness, so I  walk and move slowly in a very  laboured way.

I don’t have a lot of stamina and get frequent colds and stomach upsets. The colds lay me low for quite a while, I can however do very limited occasional work at our local mail centre.

I enjoy watching sports but don’t play any.




I’m 24  and I have much more stamina, recovering from minor illness very quickly.

I’m mentally much younger so I’m not allowed out on my own, I would be too vulnerable.

I have quite a lot of red marks, angiokeratomas on my body but they do not bother me.

I enjoy music and dancing.