7 year old Callie Aspley from Tamworth, is the latest beneficiary of Simon’s Heroes. She was born with a very rare condition, Rhizomelic Chondrodysplasia Punctata (RCDP), a metabolic genetic disorder that is present at birth.
It is a form of dwarfism that causes severe developmental delays and a short life expectancy. Symptoms include limited motion, cataracts, respiratory problems and seizures. There is no cure for the condition. Callie has type 1 which is the most prominent and requires 24 hour care.
Callie underwent a number of tests during the ensuing weeks which revealed various problems including stippling on her bones, poor vision – she had to have her cataracts removed at just 3 months old – and difficulty swallowing, resulting in a gastrostomy tube being fitted. She was eventually diagnosed with RCDP type 1 at 10 months old. Dan and Marie were also tested and both were found to be carrying the defective gene that causes the condition.
We didn’t realise anything was wrong at first until the nurse bathing her in the hospital noticed that her arms were unusually short.
Information on her condition is limited because of its rarity and there are few medical professionals who are familiar with it. Because of this, Marie and Dan have had to carry out a lot of their own research which they share with doctors and other families
affected by the condition. They have developed friendships with families in America and despite the challenges they face caring for Callie, they provide a life line for those who lack support, giving advice, sending useful aids and money.
Every day with Callie is very precious for Dan and Marie. She is considered a long term survivor having surpassed the age of 5. Callie can say a few words including mom, dad and grandma and she enjoys listening to music, especially the Rat Pack – Frank Sinatra is her favourite – she smiles away when he is crooning. She is rarely without a helium balloon
which helps to exercise her arms. Her bedroom is a gorgeous grotto of fairy lights, and clusters of butterfly decorations cover her walls. Callie is always smiling and photographs of her light up every wall in their home.
Callie has previously enjoyed family breaks at Center Parcs, but lack of suitable transport and a comfortable child seat has restricted her outings over the past couple of years. Earlier this year, with help from family, Dan and Marie were able to fund a mobility car and bespoke seat for her. Their main focus being to provide the best quality of life for their daughter and creating memories is a big part of that.
Simon’s Heroes wanted to help Callie and her family by giving them an experience they could treasure. It was decided a week at Callie’s favourite holiday resort would do just that. They will be enjoying a stay at Center Parcs later this year.