Summary: Lyndsey explains why her professional training became a double-edged sword when her own son was born with a rare genetic condition.
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The early days were the most difficult. As Lyndsey explains it took almost three years to get a diagnosis so Joe has spent much of his young life undergoing endless tests and interventions; “Joe was a very poorly baby and the tests were quite invasive. At 4 months he nearly died following sedation for an MRI scan so I found it very difficult to put him forward for anything else after that. He had operations due but I postponed and postponed and postponed…. “
In March 2017, Joe was finally diagnosed with Coffin-Siris syndrome - a rare genetic condition which causes variable degrees of learning disability, developmental delays and distinctive physical features. Many children with Coffin-Siris syndrome die during infancy, usually due to respiratory issues caused by low muscle tone. There are some examples of children living into their twenties but there has been very little research into the condition until recently, so information is still scarce. The eventual diagnosis came as a relief because they can now access support groups and meet other families.
It has been a tough road for the family but Lyndsey is keen to stress that things are much better than she first imagined. “Joe has a good quality of life and although he will need lifelong care, we’ve done every therapy under the sun to get him to a point where he can walk, drink and feed himself. He’s a happy, much-loved little boy and I things are so much better than I imagined when he was born.“
Joe will always need full-time care and the family routine is intense but carefully managed. It is easy to become overwhelmed by the regimes so Lyndsey has opted to work part-time and pay a team of carers and therapists to come in and support Joe - which he really enjoys. It also means the family enjoy much more quality time when they are together.
These precious moments of quality time prompted Lyndsey to apply to Dreams Come True for a weekend at Alton Towers. Although it doesn’t sound very ‘exotic’ or exciting, she explains why it would be absolutely perfect for them.
“Much as I would love to go abroad, Joe wouldn’t cope with the travel and change of environment. He likes to be in familiar surroundings and although he doesn’t mind a day or two away, any longer would be too far out of his comfort zone.
We chose Alton Towers because they have the CBeebies park and Splash Landings all together on one site. Joe loves going on rides and also loves water. He can’t swim but he also hates being held or wearing armbands - he wants to do it all himself! Splash parks are ideal because the water is very shallow so he can just be free and enjoy himself without putting himself at risk.”
For Lyndsey and Steve, it would mean a vital break from the strict rota they operate their lives around. They would love to enjoy some quality time with Joe without the pressure of routines, therapies and a constant flow of care professionals through the house. Great as the care teams are, it can be quite intrusive and home isn’t a particularly relaxing place for this hard-working couple. A weekend escape would allow them a little breathing space and some precious moments with Joe.