JEMMA’S STORY

My name is Jemma and I live in Hawkinge near Folkestone in Kent. We love taking walks in the countryside and spending lots of time at our allotment. My five year old son Atticus was undiagnosed up until 20 December 2020, where we received the news he has 1q21 duplication and a mutation of his SHANK gene. 

Jemma Baby

CHALLENGES AND POSITIVES

All the conditions he has had up to this point have controlled what we can and cannot do as a family and put limitations on the things that Atticus can cope with on a physical and psychological level. We have been managing the multiple appointments and retelling his story to professionals constantly. It has been a battle to have our voice heard about the difficulties that he has and to get the right support for him. When one battle ends, a new one begins. 

But the condition has made Atticus unforgettable in everyone’s eyes. He is his own little piece of history in the making, rewriting the rule book and proving he can do something when others think he can’t. He is at a school that has a Specialist Resource Based Provision (SLCN) so he has the opportunity to make friends and spend time with other children who care for him and love him. They celebrate everything about him.

Jemma Toddler

RARE DISEASE DAY

Rare Disease Day means a great deal to me. I went to Rare Disease Day at the Houses of Parliament in May 2019. It was amazing to meet other parents and people affected by rare and undiagnosed conditions.

SUPPORT

I was a member of SWAN UK but we are graduate swans as we have a diagnosis now. We have found a Facebook page for 1q21 microdeletion and duplications, which is useful.

Out of all my three children, Atticus will be the one who forges his way through life doing what he wants and loving what he does. He does not care how others think of him. He is passionate and driven. He is an example to us all on how you can just keep on and never give up. He is mine. He is my miracle. 

TO SHARE YOUR EXPERIENCES OF LIVING WITH A RARE CONDITION PLEASE EMAIL [email protected].

Remember to vote for your favourite...