Ivy'v Story What care and support is available for those with deletion 22q11 syndrome?


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From Uncertainty to University!

Having a baby with 22q11.2 deletion brings a lot of worry and many hospital appointments. I experienced this without even knowing my child had the deletion as it was not diagnosed until she was 10 years old. All I knew was that Lizzie did not thrive as a baby and was late reaching all her milestones. When she was diagnosed it was like all the pieces of a jigsaw finally being pieced together.

For Lizzie, now 19 yrs, the deletion means an underactive thyroid and unstable knee joints. Her right knee did not respond to surgery and cannot bend very far which has led to some mobility issues. Any other problems have been successfully treated, such as an operation to straighten her toes. And from eating one pea at a time, she has progressed to a very healthy appetite!

Academically, Lizzie was statemented as a child with special needs in year 7 but went on to achieve 4 grade A-C GCSEs, 2 A Levels, a Diploma in Foundation Studies (Art & Design) and now a place at Plymouth University to read Fine Art.

As Lizzie progressed through her teens, the impact of 22q11.2 deletion lessened; time allowed treatments to work, conditions to stabilise and the round of hospital appointments to stop. 22q children become adults and take on responsibility for the additional challenges they face. Add to this Lizzie's own determination and talent, and she is now on the threshold of the best future I could have wished for her.