About MED13L UK
Our Mission
At MED13L UK, we are dedicated to providing support for families affected by MED13L syndrome. Our mission is to raise awareness and offer resources to those in need within the UK.
Frequently Asked Questions
Please reach us at MED13L.UK@hotmail.com if you cannot find an answer to your question.
MED13L UK is a charitable organization dedicated to providing aid and support to those families affected by MED13L syndrome in the United Kingdom.
MED13L syndrome is a rare genetic condition caused by a change (variant) in the MED13L gene, which is located on chromosome 12 at position 12q24.21. This gene plays a crucial role in brain development and function. People with MED13L syndrome often experience developmental delays, learning disabilities, speech difficulties, and distinctive facial features. Some may also have congenital heart defects, low muscle tone (hypotonia), or epilepsy. The condition varies from person to person, meaning the impact can differ significantly.
MED13L syndrome is diagnosed through genetic testing, usually via whole exome sequencing (WES) or whole genome sequencing (WGS). If a variant in the MED13L gene is identified, a geneticist can confirm the diagnosis.
There is currently no cure for MED13L syndrome. However, therapies such as speech and language therapy, physiotherapy, occupational therapy, and additional educational support can help individuals reach their full potential.
MED13L syndrome is considered a rare condition, though the exact number of affected individuals is unknown. As genetic testing advances, more cases are being identified.
Challenges vary but often include developmental delays, speech and communication difficulties, motor coordination issues, learning disabilities, and sometimes medical concerns such as heart defects or epilepsy.
In most cases, MED13L syndrome is caused by a spontaneous (de novo) genetic change and is not inherited from parents. However, in rare cases, it can be passed down in families. A genetic specialist can provide more information based on an individual’s specific case.
Families in the UK can access NHS services such as genetic counselling, therapy services, and educational support. Charities like MED13L UK provide guidance, community connections, and information for families navigating life with the condition.
Patience, understanding, and support are key. Encouraging access to therapies, creating an inclusive environment, and learning more about the condition can help individuals with MED13L syndrome thrive.
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