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Celebrating Liesel…

Today is Phelan-McDermid day and we are celebrating Liesel .

5 year old Liesel was born in Pretoria, with Phelan-McDermid Syndrome, and is one in 10 known cases of this condition in South Africa.

Although she continues to struggle with gastrointestinal issues (chronic reflux and cyclical vomitting syndrome), is nonverbal and has challenges with motor planning, she thrives with symbol communication and even started walking independently during the past few months.

Liesel loves birds, her favourite being puffins. Her favourite colours are black and white and she loves music, with hip hop always being her first choice.

About Phelan-McDermid Syndrome

Phelan-McDermid syndrome, also called 22q13 deletion syndrome, is a genetic disorder caused by deletion of part of chromosome 22 or a defect in a gene called SHANK3.

Symptoms of Phelan-McDermid syndrome vary from person to person. Not all children will have every symptom. Common symptoms may include:

Neurological and neurodevelopmental problems, including:

  • developmental and speech delays

  • autism spectrum disorder

  • intellectual disability

  • behavioral problems

  • seizures

  • trouble sleeping

  • low muscle tone

Cardiac problems, including:

  • structural heart defects

Gastrointestinal problems, including:

Kidney problems, including:

Susceptibility to infections, including:

What are the causes of Phelan-McDermid syndrome?

Phelan-McDermid syndrome results from deletion of a piece of DNA in chromosome 22, near the end of the chromosome’s long (“q”) arm, or a change in a single gene on chromosome 22 known as SHANK3. Researchers are trying to learn whether patients with SHANK3 changes alone versus those with the chromosome 22 deletion have any differences in symptoms. What’s known is that the SHANK3 protein is involved in the functioning of the synapses, the connections between brain cells. When SHANK3 is defective or absent, there is a defect in cell-to-cell communication within the brain. However, recent research has also found that the chromosome 22 deletion does not always involve loss of SHANK3.

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