Rare Disease Patients and Families Share Fears and Frustrations

Aljazeera recently published an article that highlights the difficulty several families have had waiting for a rare disease diagnosis. In the majority of cases, when the families finally received the news that the newly-identified disease is rare, they were also told that there is no cure.

One case describes a seventy-year-old man who received a confirmed diagnosis of a rare disease from his dentist. It took twenty-five years for someone to finally identify his disease.

The Definition of a Rare Disease

The UK’s Social Care Department defines rare diseases as affecting less than one patient out of every two thousand individuals. The Department’s statistics show a total of seven thousand rare diseases. Still, new disorders continue to be discovered.

Rare disease patients in the United Kingdom total approximately 3.5 million of the 400 million cases worldwide. Eighty percent of these cases are caused by genetic abnormalities. In approximately ninety-five percent of these cases, there is no known cure.

But the most disturbing announcement the family may hear from a physician after a rare disease diagnosis is that there is no cure. That devastating news is usually followed by an announcement that the patient may have a severely shortened life span.

Amelie Lewi Passed Away at the Age of Eight

Amelie Lewi was diagnosed with Tay-Sachs in 2011 when she was fifteen months old. The doctors had suspected a brain tumor and conducted several tests which included testing her eye due to the presence of a red spot in the back.

Tay-Sachs is a neurodegenerative disease that affects one in 320,000 individuals with most cases occurring in infancy. The disease is the result of a missing enzyme that ordinarily clears waste in the brain. Tau-Sachs destroys the nervous system and results in early death.

After receiving the shocking diagnosis, Amelie’s parents, Patricia and Daniel Lewi decided they would not succumb to idle sadness but would make every effort to help Amelie and others find answers to this disease.

Their first effort was to contact other families who were in some way involved with Tay-Sachs. In addition to providing support, they hoped to join efforts with other families in sharing patient data. The goal would be setting up clinical studies for developing potential treatments.

Within four months Amelie’s parents had set up the CATS Foundation for the support of patients with Tay-Sachs and a similar disorder called Sandhoff disease.

It was difficult for Patricia and Daniel to accept the fact that Amelie would not live long enough to benefit from their foundation. However, they found comfort in knowing that the charity was established in her memory and that they would be helping other Tay-Sachs patients.

The 50th Patient in the World With McArdle Disease

McArdle disease is a metabolic disorder that is caused by a low level of the enzyme that supplies energy for exercise. Andrew Wakelin was diagnosed in 1980 when he was thirty years old. McArdle disease occurs in one out of 100,000 patients. The symptoms are muscle pains, cramps, and the inability to perform routine exercises.

It was a coincidence that twenty-five years after his first symptoms his dentist, who had studied rheumatology, noticed he had difficulty walking and suggested a creatine kinase blood test. The test came back positive with strong indications of McArdle disease.

For twenty-five years Andrew had been given various diagnoses from doctors that suggested rheumatism or even growing pains.

Andrew is the coordinator for AGSD, a support organization for patients with McArdle disease. Together with others at the AGSD organization, a training module was prepared for doctors to more easily identify the disease.

He has also prepared a guide with 101 tips for McArdle patients that has been translated into eight languages.

Andrew has proven that McArdle patients have stamina by scaling all 188 mountains in Wales to bring awareness to McArdle disease. Andrew confirms that McArdle patients may not have endurance but they do have stamina.

Tallulah Clark Waited Ten Years for Her Ataxia Diagnosis

At the age of twenty-three, Tallulah had already waited ten years for doctors to explain her difficulty maintaining balance, abnormal gait, and slurred speech.

Tallulah finally received the diagnosis of ataxia, which is the loss of full control of bodily movement. Ataxia is usually caused by damage to a part of the brain called the cerebellum. There is no cure.

Despite her disability, Tallulah managed to complete her undergraduate degree. She even won an award for her dissertation on neurodiverse people in education and their experiences.

Tallulah is still struggling with a symptom she labels as “brain fog”. It is occasionally difficult for her to express herself or utter certain words when called upon to do so.

Tallulah is determined to show people that she is capable of “doing great things”.

Louise Dalgleish Was Diagnosed with Fanconi Anemia at Age Seven

Sixty-seven-year-old Robert Dalgleish, Louise’s father, tells Aljazeera about his daughter’s first symptoms which were multiple bruises on her back. There were so many that her teachers and other parents were suspicious of Louise being an abused child.

The family recalls appointments with fourteen doctors and about seventy screenings in one year prior to receiving the diagnosis of Fanconi anemia (FA). It is a genetic disease leading to failure of bone marrow and a high risk of cancer.

Louise underwent a bone marrow transplant eight years ago. She is now twenty years old, which in itself is rare. In the past most patients did not reach adulthood. However, she must still be continually tested for many different types of cancer.

Louise is now a student of interior design at Manchester’s Metropolitan University.

Her parents, Robert and Jeannie, upon learning of the diagnosis, flew to the United States and attended an FA conference of leading doctors and researchers. This was their formal introduction to the disease which accounts for about two hundred FA patients in the UK. It also led to the formation of Fanconi Hope. They formed a partnership with two other parents of children with FA funding a three-year study into proton beam therapy.

However, FA patients have very few options other than surgery due to the fact that radiotherapy and chemotherapy can significantly harm the tissue in the areas surrounding the cancer.

Help Is On The Way

The UK government initiated the Rare Diseases Framework this year addressing four challenges known to rare disease affiliates throughout the UK including:

  • Achieving faster diagnosis
  • Creating awareness by healthcare professionals
  • Assisting in the coordination of care among services and hospitals
  • Working to facilitate patient’s treatment by specialists

Yet there is no denying the importance of the efforts of patient communities and self-advocacy. The families mentioned in this article are excellent examples of how the patient community is assisting in advancing new approaches for the discovery and cure of rare diseases.

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia four years ago. He was treated with a methylating agent While he was being treated with a hypomethylating agent, Rose researched investigational drugs being developed to treat relapsed/refractory AML.

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