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To: Department of Health and Social Care

Open an adult 22q deletion clinic in the UK

We are petitioning to open a 22q clinic in the United Kingdom to support adults with DiGeorge Syndrome. When a patient turns 18 there is no offer of support. Children’s hospital discharge patients and they are referred back to locals. But with the lack of knowledge on DiGeorge Syndrome it’s so important we have understanding for adults. Symptoms just don’t disappear. With adult clinics will improve better health and life expectancy in patients with 22q. Canada (Toronto General) are the only hospital who have opened a 22q adult clinic in the world. We want to follow their lead and support the health in our children. We want to know they will be supported and have a future with knowledge in their condition. Help improve their quality of life, help them settle into adulthood. Some patients are not even diagnosed until adulthood and there’s no clinic to assess all their needs for their Syndrome. It’s so IMPORTANT!

Why is this important?

People born with 22q can have upto 180 medical issues. There are only very few 22q clinics that are for children in the UK. DiGeorge Syndrome is either having part missing chromosome 22q or having duplicated chromosome 22q. Within these clinics you get seen under Cardiology, Immunology, Psychology, Peadiatrics 22q specialists and referrals are made to multiple clinics there after if needed.

Everyone with DiGeorge syndrome is affected differently and it's difficult to predict how severe the condition will be. Most children survive into adulthood.
As someone with DiGeorge syndrome gets older, some symptoms such as heart and speech problems tend to become less of an issue, but behavioural, learning and mental health problems can continue to affect daily life.
Many of those who reach adulthood will have a relatively normal life span, but ongoing health problems can sometimes mean life expectancy is a bit lower than normal. It's important to attend regular check-ups so that any problems can be spotted and treated early on.

Having a 22q clinic for adults means they would be receiving lifelong checks and it could help improve health and have longer life expectancies.
Just because turning the age of 18 doesn’t take away DiGeorge Syndrome or it’s health effects.
It’s so important it is valued in all ages.
Some young adults are experiencing mental health issues and having a clinic to observe and support them who have great understanding of the condition would be extremely beneficial.

DiGeorge syndrome can cause a range of problems, but most people won't have all of these.
Some of the most common issues are:
learning and behaviour problems – including delays in learning to walk or talk, learning disabilities and problems such as attention deficit hyperactivity disorder (ADHD) or autism
speech and hearing problems – including temporary hearing loss due to frequent ear infections, being slow to start talking and having a "nasal-sounding" voice
mouth and feeding problems – including a gap in the top of the mouth or lip (cleft lip or palate), difficulty feeding and sometimes bringing food back up through the nose
heart problems – some children and adults have heart defects from birth (congenital heart disease)
hormone problems – an underactive parathyroid gland (hypoparathyroidism) is common and can lead to problems such as shaking (tremors) and seizures (fits)
Other possible problems include:
a higher risk of picking up infections – such as ear infections, oral thrush and chest infections – because the immune system (the body's natural defence against illness) is weaker than normal
bone, muscle and joint problems – including leg pains that keep coming back, an unusually curved spine (scoliosis) and rheumatoid arthritis
short stature – children and adults may be shorter than average
mental health problems – adults are more likely to have problems such as schizophrenia and anxiety disorders.

United Kingdom

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2021-03-22 18:43:41 +0000

1,000 signatures reached

2018-05-04 21:26:11 +0100

500 signatures reached

2018-05-02 11:21:41 +0100

100 signatures reached

2018-05-01 20:13:33 +0100

50 signatures reached

2018-05-01 13:18:09 +0100

25 signatures reached

2018-05-01 11:34:43 +0100

10 signatures reached