In the lead-up to Rare Disease Day 2022, we want to highlight a few rare conditions and accompanying patient groups. Rare diseases are diverse in symptoms, cause and impact. Our two-part blog series will explore 12 rare conditions and patient groups.
Part 1 of our blog series will discuss:
- Alkaptonuria (AKU)
- Spinal Muscular Atrophy (SMA)
- Tay-Sachs disease
- Pseudomyxoma Peritonei (PMP)
- Friedreich’s ataxia
- Fibrodysplasia ossificans progressiva (FOP)
Get to know more about these rare conditions and patient groups below. Be sure to keep an eye out for Part 2 of our blog series later this month!
Alkaptonuria (AKU)
Affects: 1 in every 250,000 people worldwide
Disease summary: Alkaptonuria, also known as AKU or Black Bone Disease, is an ultra-rare genetic condition. A change in a single enzyme prevents the body from breaking down a chemical called homogentisic acid (HGA). Those living with AKU produce black urine early on in life. As they get older, the build-up of HGA in their body causes significant damage to their bones and cartilage. In adulthood, AKU patients may experience early-onset osteoarthritis. If this occurs, those living with AKU could endure multiple joint replacements and potentially heart failure due to the hardening of the heart’s valves and vessels.
Treatment: Nitisinone is now officially licensed to treat AKU in the European Union! Clinical research has shown that nitisinone reduced HGA levels by up to 99.8%
Patient Group: The AKU Society has played an active role in gaining European Medicines Agency (EMA) approval of nitisinone to treat AKU. They ran a series of international clinical trials called DevelopAKUre, which measured the effectiveness of nitisinone in treating AKU.
Spinal Muscular Atrophy (SMA)
Affects: 1 and 2 people in every 100,000 worldwide have a Type of SMA, which equates to between 10 and 20 people in every million.
Disease summary: Spinal Muscular Atrophy (SMA) is a rare, genetic neuromuscular condition that causes progressive muscle wasting, known as atrophy. Those living with SMA experience atrophy and weakness, which results in the loss of movement in their arms, hands, head and neck during childhood. SMA can affect a person’s crawling and walking ability as a child, and create difficulties breathing and swallowing. There are multiple forms of SMA. How severely children and adults are affected by SMA varies depending on the individual.
Treatment: There is currently no cure for SMA. There are three drug treatments available that help to manage symptoms, reduce complications of muscle weakness and help to maintain the best quality of life. These treatments are:
- Nusinersen / SpinrazaTM
- Onasemnogene abeparvovec / ZolgensmaTM
- Risdiplam / EvrysdiTM
Patient Group: Spinal Muscular Atrophy (SMA) UK has supported SMA individuals, families and research for over 35 years. They work to improve the SMA community’s access to care, support, research and drug treatments.
Tay-Sachs disease
Affects: 1 in 320,000 people
Disease summary: Tay-Sachs is a rare, progressive, neurological genetic disorder that is caused by a lack of the Hexosaminidase A enzyme. This enzyme plays an important role in clearing away GM2 waste that builds up in the brain. The most common form of Tay-Sachs disease is Classic Infantile, which begins in early pregnancy but isn’t clinically apparent until the baby is several months old. By the time the child turns three or four years old, his or her nervous system is so severely affected that life itself cannot be sustained. Sadly, babies born with this neurological disease often die before their fifth birthday due to severe, progressive brain damage.
Treatment: Currently, there is no cure for Tay-Sachs or its associated diseases. Finding a cure for Tay-Sachs would result in a cure for over 70 other Lysosomal Storage Diseases. This is true for other neurological conditions, such as Parkinson’s, Alzheimer’s and Multiple-Sclerosis.
Patient Group: The CATS Foundation was the first UK-based rare disease charity for Tay-Sachs disease. Founders, Daniel and Patricia Lewi, created the first patient registry for those living with Tay-Sachs to encourage research into Tay-Sachs and Sandhoff disease. Their work ensures that no family affected by Tay-Sachs or Sandhoff disease feels isolated after a diagnosis.
Pseudomyxoma Peritonei (PMP)
Affects: 2 people per 1 million each year.
Disease summary: Pseudomyxoma peritonei, also called PMP, is a rare cancer that tends to start in the appendix. Some people living with PMP won’t show symptoms for several years, making early detection of a tumour nearly impossible. If PMP is left untreated, the tumour will grow and eventually burst through the wall of the appendix into the abdominal cavity. It is the build-up of a jelly-like substance from the tumour called mucin in the abdominal cavity, which results in the swelling of one’s abdomen. The severe swelling of the abdomen compresses vital organs in the body. Unlike other types of cancer, PMP rarely spreads through the bloodstream or lymphatic system. It stays contained within the abdomen where it spreads along the inner surfaces.
Treatment: Treatment for PMP begins with cytoreductive (debulking) surgery to remove the tumours that have implanted themselves throughout the abdominal cavity. This is followed by intraoperative hyperthermic peritoneal chemotherapy (HIPEC), which is a liquid chemotherapy solution that is poured directly into the abdominal cavity at the end of the operation to kill off any remaining cancer cells so that new tumours don’t grow. Early postoperative intraperitoneal chemotherapy (EPIC) can also be used after surgery. The entire procedure is called “the Sugarbaker technique” after Dr Paul Sugarbaker.
Patient Group: Pseudomyxoma Survivor is a rare cancer support group that is run by patients and caregivers. They provide emotional and practical support to anyone whose life has been touched by pseudomyxoma peritonei (PMP), appendix cancer or other peritoneal surface malignancies. They support research into these rare cancers and fund small grants to help patients and caregivers influence the drug development process.
Friedreich’s ataxia
Affects: Estimations from a European study of Caucasian people suggest that around 1 in 30,000 people are living with Friedreich’s ataxia. Friedreich’s ataxia is rare in those of sub-Saharan African origin and those who originate from the Far East. Numbers were found to be high in parts of Spain, France and Ireland.
Disease summary: Friedreich’s ataxia is the most common form of hereditary ataxia that damages the cerebellum. Friedreich’s ataxia is caused by a mutation on the frataxin (FXN) gene. It is diagnosed in childhood or adolescence. Those living with Friedreich’s ataxia tend to experience poor balance and coordination, difficulty speaking and swallowing, reduced sensation in their limbs and trouble handwriting. They can appear drunk to others due to these neurological symptoms. Friedreich’s ataxia is a progressive disease, which means that symptoms and disability worsen over time.
Treatment: There is currently no approved treatment for Friedreich’s ataxia. There is a global cohort of researchers conducting studies and clinical trials to identify a treatment. Researchers are currently exploring anti-oxidants, drugs that enhance the function of a cell’s mitochondria and drugs that can increase the levels of frataxin protein. Researchers are also looking into gene therapy and stem cell therapy as potential treatment options.
Patient Group: Ataxia UK is actively involved in funding and supporting the research effort into Friedreich’s ataxia. Ataxia UK offers advice, information and support to those living with any type of ataxia to ensure that they have the best possible medical and social care.
Fibrodysplasia ossificans progressiva (FOP)
Affects: 1 in a million people. There are only 900 known people living with FOP worldwide.
Disease summary: Fibrodysplasia Ossificans Progressiva (FOP) is one of the rarest and most disabling genetic conditions known to medicine. Most cases of FOP are caused by a mutation on the ACVR1 gene. This gene mutation spontaneously happens at conception. FOP restricts the neck, shoulders and arms of babies as early as birth. Babies with FOP rarely crawl due to fused vertebrae in their neck. This progressive, spontaneous disease steals children’s independence and mobility.
FOP is the only known disease where one body system turns into another. Soft tissue turns into hard bone, creating a second skeleton. Ribbons of bone grow throughout the body often from the neck down. Flare-ups happen randomly and tend to create new bone growth in the process. FOP can result in hearing loss, loss of movement, swelling, and difficulty eating and talking. It significantly shortens a person’s life expectancy.
Treatment: Currently, there is no treatment for FOP. There is research and global clinical trials being done to help find one. FOP Friends are proudly fundraising to support the FOP research team at the University of Oxford in their search for a treatment.
Patient Group: FOP Friends became the first UK charity dedicated to supporting FOP families and funding research in 2012. Since their charity began, they have raised over £700,000 to support FOP research. They continue to support patients and families affected by this rare disease.
