A Six-Year-Old with a Rare Disease Finds Answers – and Treatment

It started with a series of unexplained fevers, her father said. Yusra was just a year old, living with her family in Tanzania’s Pwani Region, near the city Dar es Salaam.

By the time she was three, her stomach had become distended, and her parents were worried.

For most Tanzanians, the first step in seeking treatment is to go to a dispensary, a small local clinic. If that doesn’t solve the problem, a patient is sent to a larger health center. Then a district hospital.

Yusra’s parents tried them all. She was diagnosed first with malaria, then sickle cell anemia. Neither was the right answer.

Suspecting a Rare Disease

By the time she was transferred to Muhimbili National Hospital, Yusra was five years old, a shy girl who loved dolls, playing house, and her two sisters, and whose favorite subjects were math and reading. “She only talks very rarely. Most of the time she’s just quiet,” her father, Hamisi Mohamed Kaundu, said through an interpreter.

The hospital ruled out sickle cell anemia, along with lymphoma and leukemia. Yusra’s condition might have remained a mystery – were it not for her doctor, Kandi Muze.

Dr. Muze, a pediatrician and endocrinologist, had already diagnosed a few patients with Gaucher disease, a disorder in which the body fails to produce a necessary enzyme, causing fatty material to build up in the organs and even bones.

The disease is incredibly rare, affecting one out of every 50,000 people, but Yusra’s symptoms – a distended belly, poor growth stature – fit the profile. An initial test came back positive.

A Lifesaving Program

A confirmed diagnosis is difficult and expensive, because genetic sequencing is required to identify the mutations that cause Gaucher disease. And in Tanzania and many other parts of the world, even basic health care is unaffordable – let alone the complex treatment required for a rare disease.

“I don’t think anybody [in Tanzania] could afford it, even myself,” said Dr. Muze. For Yusra’s father, who owns a small tire-repair garage, the cost of treatment would be beyond reach.

Fortunately, a pharmaceutical company called Takeda, through its Charitable Access Program, offers ongoing enzyme therapy for people who are diagnosed with Gaucher or two related diseases, but who live in underserved communities.

When it’s not possible for a doctor to obtain genetic sequencing, Takeda can refer them to a diagnostics laboratory that conducts the analysis free of charge.

“We know that people affected by rare diseases around the world can face challenges in getting access to approved treatments, which may not be available in their local country,” said Dr. Zoya Panahloo, the program’s global medical lead. “As a trained physician, being able to help these rare disease patients in underserved countries to improve their health, is highly rewarding.”

Direct Relief began partnering with Shire (now a Takeda company) in 2013 to support 190 people with these rare diseases in 13 different countries and territories. Doctors apply to the program on behalf of their patients once they have a confirmed diagnosis.

An independent medical expert committee assesses each patient’s case to make sure it’s a good fit for the program. Patients who are admitted receive free enzyme replacement therapy at a qualified facility for as long as it’s medically beneficial.

Dr. Muze knew about the program through a medical training, and one of her patients was already enrolled.

She reached out to Takeda for assistance in confirming her diagnosis and to Direct Relief about the possibility of applying for Yusra as well.

A Diagnosis, at Long Last

Yusra’s diagnosis came back: Type 1 Gaucher disease, which primarily affects the body’s organs (particularly the spleen and liver) and bone marrow.

Her stomach was distended because fatty cells had built up in her spleen, causing it to enlarge. Left untreated, patients with this type of Gaucher disease can suffer organ damage or even failure. Fatty cells building up in bone marrow can cause pain and frequent breaks.

“Some other patients, they usually come with a lot of complications already,” Dr. Muze said.

In that sense, Yusra was lucky. Her spleen and other organs weren’t damaged, and she wasn’t in pain, although she’d need lifelong treatment to provide the vital enzyme her body couldn’t produce.

Initially, Yusra’s parents were delighted to have a diagnosis – as was Yusra. “When Yusra saw [that I] was happy, she was hopeful that everything would be fine,” Kaundu said.

The family was deflated, though, when they learned that the treatment was beyond their means.

A Way Forward

Fortunately, Yusra was accepted into the Charitable Access Program, and began treatment in June. Because Direct Relief provides support for patients who need health insurance or help with travel expenses, she’ll be able to have necessary follow-up tests and continuous care.

“She is expected to live a normal life and attend school as usual, except for the days when she is due for [enzyme replacement therapy],” Dr. Muze said.

If all goes well, she’ll start to grow and her stomach will no longer be distended. Dr. Muze will check Yusra’s progress in about six months, but she’s optimistic about the results.

Yusra was too shy to tell Dr. Muze what she wants to be when she grows up. But whatever her goals, she’s likely to have a long and healthy future in which to pursue them.