Patient Stories

Meet Suzanne
Diagnosed with PNH at 10 years old

Suzanne says she is “living proof that just because you’ve got a rare disease and you are one of a few, that you shouldn’t be discounted, that you have an active and vital part to play in life.” Suzanne from Surrey, UK, tells her story of living with an ultra-rare disease.

As a child, Suzanne experienced breathlessness all the time, and would constantly have huge bruising all down her legs and around her hips and back. Her mother became increasingly worried, so she was taken for blood tests at St George’s hospital in London.

Initially, at age 10, she was diagnosed with a severe form of anemia, but in her late teens she discovered that she in fact had paroxysmal nocturnal hemoglobinuria (PNH).

Over a matter of time, she stopped going to school, she was desperately ill and didn’t leave her bed on and off for about a year. She suffered from severe fatigue and breathlessness and could only walk for short distances. She was susceptible to all sorts of viruses, her skin was yellow and she regularly passed blood in her urine. From her own memory she says she “became this monster and from going from a very sort of happy, outgoing child, when I met other children was teased and sort of ridiculed.”

Having an ultra-rare condition has been a lonely and isolating experience for Suzanne, until finally meeting someone else with the condition in her 40s.

Today, she works with a PNH patient support group with the hope that her story can give someone else living with a rare disease some comfort that they are not alone.


Meet Petra
Diagnosed with HPP at 25 years old

“They said: You will never get well again. There is no therapy. I was not allowed to work, I should not have children.” Petra and her husband Norbert from Iserlohn, Germany, tell their story of a lifetime with a rare disease. Petra is 55 and was diagnosed with hypophosphatasia (HPP) 28 years ago.

It started as early as when Petra was learning to walk. She learned very late. As a child, she had also always been a bad eater, was always much too thin and already started losing her milk teeth at kindergarten age.

The symptoms re-started again at age 25. However, she was treated for rheumatoid arthritis for years before being diagnosed with HPP. It was only after many tests in a specialized clinic in Dortmund that HPP was eventually diagnosed in 1989.

A few years after diagnosis, the fractures started. It started with the right thigh. She first thought it was just muscle soreness, but when the symptoms got worse, an X-rayed showed that the thigh was broken. She had surgery the next day, and also two weeks later – she has put too much strain on the left thigh, which also broke. That’s how it all started and over the following years she broke her arms, underarms, thighs, lower legs… HPP causes a lot of pain.

Petra has been married for 33 years. Her husband supports her both psychologically and with everything she can’t do herself. Petra says that he's always there for her.


Meet Albie
Diagnosed with LAL-D as an infant

When Albie was born, his mom, Charlotte, said that he was, “absolutely fine. Everything was fine for about two weeks.”

And then Albie started to have intestinal problems. His doctor thought he might be lactose intolerant or have reflux. However, he kept getting sicker, developing a large abdomen and groin, and wasn’t gaining significant weight. At two months of age he had only gained one pound since birth.

After numerous tests, physicians and hospitals, Charlotte still did not have any answers. Finally, a specialist narrowed the cause down to a metabolic storage disorder, but was not yet able to determine the exact diagnosis. According to Charlotte, when she asked what was going to happen to Albie, she was told “he’ll either live or he’ll die.” These were words Charlotte would never forget.

After more tests, it was confirmed that Albie had a severe, genetic ultra-rare disease called lysosomal acid lipase deficiency (LAL-D).

Albie is now four years old and when he started pre-school, Charlotte remembers bursting into tears. When a teacher asked if she was sad because he was leaving her, she said, “I’m not crying because I’m sad that he’s leaving me, I’m crying because I can’t actually believe he’s here, I never thought I'd see the day.”