According to the National Autistic Society, Autism is a lifelong developmental disability which affects how people communicate and interact with the world. More than one in 100 people are on the autism spectrum and there are around 700,000 autistic adults and children in the UK. It's not at all rare to have this condition.
Autism is a spectrum disorder which means autistic people can have varying support needs. One third of autistic people also have a learning disability. This means an autistic person could be a leading expert on nuclear physics but unable to remember to brush their teeth or clean their clothes.
Some autistic people will have high support needs, which may mean that they require full time care and support. Some people may need a bit of support with day to day activities, while others live fully independent lives. This can present many challenges including diagnosis, support, education and care for something that is still a relatively common condition.
As it is Rare Disease Day I'm happy to share some information about them from Dan Williams PhD. He's an expert from the CEO of SynaptixBio, a rare disease biotech. They are currently developing a drug to treat H-ABC, the most severe form of a rare, deadly and currently incurable leukodystrophy.
Q: What is a rare disease?
A: When they hear the term 'rare disease', many people think we simply mean a disease that is rare. Actually, to be classes as a rare disease in the UK, it must affect less than 1 in 2,000 individuals.
Definitions do vary by country, for example in the US it must affect 1 in 100,000, but the number of people in total worldwide is somewhere between 350 to 400 million.
There are some 8,000 known rare diseases, around 80% of which are caused by single-gene mutations. Around 90% have no effective therapies.
Q: Are you able to tell me some of the difficulties a family may have in identifying the rare disease their child may have (without being too technical)?
A: Rare diseases are often misdiagnosed, and it can take years before an accurate diagnosis is made. This causes several problems; firstly, families can’t get access to the support they need, and because there are relatively few specialist centres (where such a diagnosis could be made) there is often a long ‘diagnostic odyssey’.
To illustrate this, here is a typical (real life) case:
Bethany Turner, who suffers with H-ABC, and her mother Debbie, have helped us raise awareness of SynaptixBio's work. At six weeks Debbie noticed that Bethany’s head and body were floppy. At eight months, Bethany was still not sitting up and her fine motor skills were not developing. At two-and-a-half, Bethany was referred to the Child Development Centre in Harlow; they thought Bethany had cerebral palsy. Until Bethany was 12, very little changed, but by 16 she needed a wheelchair. Bethany was almost 17 when her diagnosis was finally made; Debbie was told that Bethany had H-ABC.
Another challenge is that there is less research into rare diseases, their causes and possible treatments. Despite affecting more than 2,000 children born every year, there is only one company licensed to develop a therapy.
Q: What impact can rare disease have on a baby or child?
A: All rare diseases will of course be different, but leukodystrophies affect the brain and manifest with a spectrum of severity and symptoms. Onset is typically recognised in toddlers with developmental delays and deterioration of motor function (difficulties with walking, sitting, speech and swallowing). Often survival is limited to the stage of young adulthood.
Q: What impact can a rare disease have on a family?
A: Having a child who is disabled or unwell is a strain on any parent, but rare diseases often come with additional factors. Parents can wait incredibly long times before an accurate diagnosis and may even need to move home or make expensive adaptations as the disease progresses.
A: When they hear the term 'rare disease', many people think we simply mean a disease that is rare. Actually, to be classes as a rare disease in the UK, it must affect less than 1 in 2,000 individuals.
Definitions do vary by country, for example in the US it must affect 1 in 100,000, but the number of people in total worldwide is somewhere between 350 to 400 million.
There are some 8,000 known rare diseases, around 80% of which are caused by single-gene mutations. Around 90% have no effective therapies.
Q: Are you able to tell me some of the difficulties a family may have in identifying the rare disease their child may have (without being too technical)?
A: Rare diseases are often misdiagnosed, and it can take years before an accurate diagnosis is made. This causes several problems; firstly, families can’t get access to the support they need, and because there are relatively few specialist centres (where such a diagnosis could be made) there is often a long ‘diagnostic odyssey’.
To illustrate this, here is a typical (real life) case:
Bethany Turner, who suffers with H-ABC, and her mother Debbie, have helped us raise awareness of SynaptixBio's work. At six weeks Debbie noticed that Bethany’s head and body were floppy. At eight months, Bethany was still not sitting up and her fine motor skills were not developing. At two-and-a-half, Bethany was referred to the Child Development Centre in Harlow; they thought Bethany had cerebral palsy. Until Bethany was 12, very little changed, but by 16 she needed a wheelchair. Bethany was almost 17 when her diagnosis was finally made; Debbie was told that Bethany had H-ABC.
Another challenge is that there is less research into rare diseases, their causes and possible treatments. Despite affecting more than 2,000 children born every year, there is only one company licensed to develop a therapy.
Q: What impact can rare disease have on a baby or child?
A: All rare diseases will of course be different, but leukodystrophies affect the brain and manifest with a spectrum of severity and symptoms. Onset is typically recognised in toddlers with developmental delays and deterioration of motor function (difficulties with walking, sitting, speech and swallowing). Often survival is limited to the stage of young adulthood.
Q: What impact can a rare disease have on a family?
A: Having a child who is disabled or unwell is a strain on any parent, but rare diseases often come with additional factors. Parents can wait incredibly long times before an accurate diagnosis and may even need to move home or make expensive adaptations as the disease progresses.
Q: Where can families find support when a child is diagnosed with a rare disease?
A: There are several charities and patient advocacy groups that support families with a child suffering from a rare disease with the internet being a valuable resource for this as it makes information accessible from across the globe.
A: There are several charities and patient advocacy groups that support families with a child suffering from a rare disease with the internet being a valuable resource for this as it makes information accessible from across the globe.
Further information on this topics in this post can be found for example The Leukodystrophy Charity (Alex TLC), www.rarediseaseday.org, synaptixbio.com and Skylarks.
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