Rare Disease Day blog series Part 2: Conditions, stats and patient groups

by | Feb 18, 2022 | Rare disease world, Uncategorised

We hope that you enjoyed Part 1 of our Rare Disease Day blog series!

Part 2 will highlight our last set of rare conditions and accompanying patient groups to help raise awareness and support.

As a refresher, Part 1 of our blog series discussed:

  • Alkaptonuria (AKU)
  • Spinal Muscular Atrophy (SMA)
  • Tay-Sachs disease
  • Pseudomyxoma Peritonei (PMP)
  • Friedreich’s ataxia
  • Fibrodysplasia ossificans progressiva (FOP)

Weren’t able to read it? Catch up now by reading Part 1 before delving into Part 2.

Our final blog (Part 2) discusses:

  • Duchenne Muscular Dystrophy (DMD)
  • Guillain-Barré Syndrome (GBS)
  • Achondroplasia
  • Vascular EDS
  • Tuberous Sclerosis Complex
  • Tyrosinemia Type 1

Get to know more about these rare conditions and patient groups now before Rare Disease Day!

Duchenne Muscular Dystrophy (DMD)

Affects: 1 in 3,500 boys worldwide. 1 in 50 million girls are born with DMD. Each year, 20,000 children are diagnosed with DMD globally.

Disease summary: Duchenne muscular dystrophy (DMD) is a progressive, genetic condition that tends to be diagnosed in childhood between the ages of three and six. It almost always affects boys, but can sometimes affect girls. DMD is caused by a mutation on the dystrophin gene, which maintains muscle strength and function. It is the most common and severe form of muscular dystrophy. DMD causes muscle weakness and wasting throughout the body, including in the heart and lungs. This rare disease affects an individual’s leg muscles first before spreading to the muscles in the arm. Children with DMD are often late walkers and have trouble sitting up, standing independently, running, jumping and getting off the floor. DMD is a life-limiting condition.

Treatment: There is currently no cure for DMD. Treatments and therapies can help to ease patients’ symptoms. The following treatments are available for use in the UK:

  • Atularen, which is sold under the brand name Translarna
  • Prednisolone and Deflazacort (Steroids)
  • Heart treatments
  • Bone protection treatments

There is another treatment for DMD, but it is currently not approved for use in the UK or Europe. It is approved for use in the USA. This treatment is called Eteplirsen (Exon 51).

Patient Group: Duchenne UK is the UK’s largest funder of DMD research. Like us, they see the value in drug repurposing and are funding drug repurposing projects to help bring DMD treatments to patients faster. They connect the best researchers with industry, the NHS and families, and have invested over £9 million to bring an end to Duchenne through clinical trials and research.

Guillain-Barré Syndrome (GBS)

Affects: 1-2 in 100,000 individuals

Disease summary: Guillain-Barré Syndrome (GBS) is an inflammatory disorder of the peripheral motor and sensory nerves. Roughly 50% of GBS cases occur shortly after a microbial infection (viral or bacterial), which can be as common as the flu or food poisoning. This non-genetic condition causes a rapid onset of numbness, weakness and often paralysis in the face, arms, legs and breathing muscles. GBS paralysis travels upward, beginning in an individual’s fingers, toes or limbs and climbing upward to his or her torso. Those with GBS tend to lose their reflexes and take anywhere between six months to two years or longer to recover. Long-term effects of GBS, include reoccurring fatigue, abnormal sensations, pain and muscle aches.

Treatment: There are many promising clinical trials and research being done to help advance GBS patients’ treatment options. Most newly diagnosed GBS patients are hospitalized and admitted to the Intensive Care Unit (ICU) to monitor and stabilize their breathing. GBS is treated via a plasma exchange and high-dose intravenous immune globulins. If a patient’s speech muscles have been affected, speech therapy may be required.

Patient Group: The GBS|CIDP Foundation is committed to supporting those touched by GBS. They believe that every patient deserves to have access to an early and accurate diagnosis, proper treatment and the opportunity for a full recovery. To date, The GBS | CIDP Foundation has committed $4 million toward basic and translational GBS research. They offer research grants to qualified applicants to actively support research efforts.


Affects: 1 in every 15,000 to 40,000 people

Disease summary: Achondroplasia is the most common form of dwarfism. It is a visible skeletal dysplasia that affects bone growth and can be either inherited from parents who have the condition or caused by a mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene. Those living with achondroplasia have short stature, an enlarged head with a prominent forehead, limited range of movement in their elbows and a separation between the ring and middle finger, which is known as a Trident hand. The average adult male with achondroplasia stands at 131 cm (4 feet 4 inches) and the average adult female with achondroplasia stands at 124 cm (4 feet, 1 inch). Life expectancy and intelligence are not affected.

Treatment: Voxzogo®, or as it’s more commonly referred to as Vosoritide, has been approved for use in children living with achondroplasia from the age of two until their growth plates close. The goal of Vosoritide is to improve the health, function and quality of life of those living with achondroplasia, not to make them taller. This is the first approved therapy for those living with achondroplasia in Europe!

Three months after the European Commission awarded marketing authorization for children age two and older until their growth plates close, Vosoritide was granted FDA approval for use in children age five and older who have achondroplasia and open growth plates in the USA!

There is currently no approved pharmacological therapy to treat achondroplasia in Australia. In Japan, only growth hormones are being used as a treatment for this skeletal dysplasia. France is currently the only country to grant patients early access to Vosoritide under a Temporary Emergency Use doctrine.

Patient Group: Little People UK, Little People of America and the Restricted Growth Association all support the social, medical and financial needs of those living with dwarfism and short stature. Little People UK’s patron and co-founder is Warwick Davis!


Vascular EDS

Affects: 1 in 90,000 people

Disease summary: Vascular EDS is a life-threatening, genetic connective tissue disorder that affects the tissues, arteries and internal organs. Vascular EDS is a rare form of Ehlers-Danlos Syndrome that is caused by a mutation in the COL3A1 gene. This mutation causes the body’s connective tissue in the skin, lungs, uterus, intestines, blood vessels and vascular system to be fragile and less effective. Those living with vascular EDS have had this invisible disease since conception. Vascular EDS patients are at a constant risk of sudden arterial or organ rupture, and can experience aneurysms, bowel ruptures and womb ruptures during pregnancy. People with vascular EDS typically have unusually visible veins, premature aging of the skin, varicose veins at a young age and bruise extremely easily.

Treatment: Celiprolol and Losartan are two drugs that are now available in the UK for those diagnosed with vascular EDS. Both drugs have been approved by NICE and are available on prescription through the NHS. Currently, Celiprolol is not available in the United States, as it is not an FDA-approved drug. US residents can purchase Celiprolol online via Canada.

Patient Group: Annabelle’s Challenge Vascular EDS Charity raises funds for vascular EDS research. They run global awareness campaigns, such as #REDS4VEDS Day, to educate others about this invisible rare disease. The team at Annabelle’s Challenge provides support and advice to those touched by vascular EDS and was even awarded The Queen’s Award for Voluntary Service (the MBE for volunteer groups) in June 2018!

Tuberous Sclerosis Complex

Affects: 1 million people worldwide.

Disease summary: Tuberous Sclerosis Complex (TSC) is a genetic condition that can lead to non-cancerous growths in various organs of the body. TSC can be inherited from a parent or happen spontaneously. The most commonly affected organs in which non-cancerous tumours grow are the brain, eyes, heart, kidney, skin and lungs. A person is born with TSC and can experience epilepsy, autism, developmental delays, learning difficulties and kidney problems. TSC is a life-long rare condition that varies in severity and impact.

Treatment: There is currently no cure for TSC. There are symptomatic treatments that can mitigate or manage the impact that TSC has on a patient’s life. Treatments and therapies for TSC, include medicines, operations and software-like phone apps to monitor a patient’s mental and physical health. Treatments aim to reduce:

•  The size and spread of growths in the body
•  The frequency and severity of seizures
•  The severity and spread of skin lesions
•  The impact and severity of TSC-associated neuropsychiatric disorders (TAND)

Patient Group: The Tuberous Sclerosis Association supports individuals who are affected by TSC. They encourage research into the causes and management of this rare condition. The Tuberous Sclerosis Association has celebrated its 45th birthday and continues to be the centre of TSC support, research, awareness and education.

Tyrosinemia Type 1

Affects: 1 in 100,000 individuals worldwide. Type 1 tyrosinemia is most common in Norway and Quebec, Canada.

Disease summary: Tyrosinemia Type 1 is caused by a shortage of the enzyme fumarylacetoacetate hydrolase and a mutation in the FAH gene. This combination results in the amino acid tyrosine and its by-products amassing to toxic levels within the body, potentially leading to the damage and death of cells in the liver, kidneys, nervous system and other organs. Those living with Tyrosinemia Type 1 usually see symptoms of the disease in the first few months of life. These patients experience a failure to thrive, yellowing of the skin and whites of the eyes, vomiting and a cabbage-like odour. Tyrosinemia Type 1 can lead to liver failure, kidney failure and an increased risk of liver cancer.

Treatment: The disease modifying treatment, Orfadin and Nityr (nitisinone), are the medical therapy of choice. Nitisinone slows the progression of the disease and is accompanied by a life-long special diet that is low in phenylalanine and tyrosine. Natural protein sources are replaced with synthetic-free amino acid protein substitutes. These protein sources are consumed daily in place of natural proteins. Both nitisinone and this special diet should be adhered to at the time of diagnosis to minimise future damage and disability.

Patient Group: The Network of Tyrosinemia Advocates (NOTA) is bringing together the Tyrosinemia community. They are spreading information and awareness of this rare disease across the globe so that no child or individual goes unsupported or untreated. They ensure that every parent knows that they are not alone. NOTA will support and guide them through their journey.