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


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Ben Smith 300K Paddle Board

A Great Big Thank You to Ben Smith and Family

Image: good_picture_medium.jpgA massive thank you to Ben Smith and family

Four-year hold Jacob inspires his family to complete 300K paddleboard challenge which raised over for 3K Max Appeal

Photo: Maxie and, from left, Jacob Smith, Kayleigh Millward, Vicki Smith and Ben Smith.

Jacob lives with the rare genetic disorder 22q11.2 deletion syndrome, also known as DiGeorge syndrome. It means from a young age he has had to contend with severe developmental issues, both physically and emotionally.
His father Ben (32yrs) said: "Jacob was born with a cleft lip and submucous palate, and a right aortic arch. At 13 weeks old he had his surgery for repairing his cleft which was a very difficult time. He suffered with feeding problems as well as reflux and slow speech, he has had a lot of input from the speech and language therapist to help his progression.
"As he began to grow he showed signs of slow development, muscle weakness and hyper-mobility. He struggled to hold his head up.
"He has very slow progression with regards to learning compared to his peers and finds it difficult with social interactions and making friends, and he gets very anxious.
"He needs regular routine and pre-warning of changes as he finds this upsetting and difficult. He also gets very frustrated when trying to communicate what he wants and if he can't explain what he means.
"Everyday things we take for granted takes a little more time and careful planning. We feel very lucky though as the condition affects each person differently and there are people who have a lot more severe medical conditions."
Ben said that the charity Max Appeal, which supports families affected by DiGeorge syndrome, has been a huge help for them with advice and support, and now they are doing their bit to raise funds.
Jacob's parents Ben and Victoria joined Ben's brother Daniel, his partner Tracy and their sister Kayleigh Millward to paddle a total of 300 kilometres on the river Wye at the end of August.
Ben said: "We raised money for Max Appeal to raise awareness of 22q11 deletion and support the thousands of families affected.
"With the support of family, friends and the help and advice received from Max Appeal we were able to move forward as a family and ensure Jacob had the extra help required.
The 300km paddle ( #SUP300 ) was the combined brain child of Ben and his older brother Dan.

Ben said;

'What a challenge it was. Each day became a lot harder for everyone but in their own way, the challenge took its toll on both our body's physically but it was also a big mental challenge. Throughout the week the following complaints/ injury's accrued, blistered hands from the paddle, blistered toes from rubbing on the board deck, sunburn and pain in ankle joints, shoulder blades and elbows were to name but a few. Day four was also a bad day for Kayleigh as a visit to hospital was required for a severely sprained ankle after she fell from her board as we finished day four.

The mental challenge came in two parts; the challenge of overcoming the mind and body's need to just stop and rest and the challenge myself and my wife faced when asked to explain the condition to others, this made the whole journey worthwhile as it has allowed to talk about Jacob and his conditions and not to bottle up our emotions. I'd like to think we have made a small difference in raising awareness for both the charity and also the condition.'

Sept 19