Background

Amy is 24 and lives with her mum Kerrie-Ann and dad in Gwent, Wales. 

Kerrie-Ann explains, “Amy has a condition called Coffin-Lowry syndrome (CLS), which is a rare genetic disease that impacts her body, causing her to have a double curvature of the spine and learning disabilities. She also has speech and language delay and drop attacks causing her to fall to the ground.” 

Amy’s condition and how it affects her 

Amy has mobility issues and relies on a wheelchair to get around. “With Coffin-Lowry syndrome, you have low muscle tone, affecting your entire body.”

Kerrie-Ann adds, “She is also hypersensitive to sound. Walking in crowded places can be overwhelming and overstimulating for her. Amy’s eardrums are also affected, making her lose her balance quite easily. Her vocabulary consists of around 25 single words and ten double words she uses to communicate. She generally can express what she needs, and because we know her so well, we understand her. However, others who don’t know her may struggle to communicate with her.” 

“Amy also has sensory needs. She is sensitive to touch, noise and taste. But because she doesn’t have any teeth, she can easily choke on food which means I always have to watch out for what she eats.”

Kerrie-Ann says, “She is the most pleasant happy young lady. She loves company, she enjoys her favourite people around her, and that’s when she is happiest. We enjoy sitting in the garden together and spending time outside.” 

Daily life and challenges for the family 

“Our days with Amy are very structured. After breakfast, she relies on routine and gets upset if the routine is disrupted. She looks at and sorts out photographs every day. After the photographs, she sorts out pennies and coins. She loves photography and taking pictures of all sorts of things. It’s one of her favourite hobbies. After lunch, she will have a bath because she also has a skin condition, I need to make sure we apply a cream to the sensitive areas and bandage them up. Before bed, we complete the skincare again and then, depending on how tired she is, she will get ready for sleep.” 

Kerrie-Ann explains, “Amy has taught me patience, resilience, understanding. She’s changed my life for the better. She teaches us things every day. Especially because her condition is rare, it’s a lifelong lesson. Now that she is getting older, her needs change all the time. She needs constant supervision. One moment she will be sitting at the table and the next she will walk out the door.”

The impact of the pandemic 

“The lockdowns meant we could spend quality time together, which we normally couldn’t do because we didn’t have the time. It felt like the lockdowns stopped time and let us be together, which was great for us. We weren’t stressed about as many things.”

“Our priority was keeping Amy safe during the pandemic. Although it was the scariest time, keeping her away from the virus, it was also lovely being away from everything.”

“You can look at every situation negatively or positively. I chose the positive way because there is no sense of being upset. I chose to remember what we enjoyed, like playing games for hours without rushing everyday life. Some speech and language appointments changed to online, which was different, but worked out fine for us.”

How Your Opportunities helped 

"Because the past two years have revolved around the pandemic the grant helped us get back to normality. We received day trips, which allowed us to visit Amy’s favourite place of all time, Lapland UK. Though it is only open in the winter, it’s a highlight for us every year. We spent that quality time together, forming unforgettable memories, it was fantastic. "

“The grant also allowed us to see new places enjoy new experiences, simple things like going to the beach and enjoying ice cream. Our favourite thing to do as a family is walking, Amy is in her wheelchair, and we enjoy being outside in nature.”

How Family Fund helped

“The tumble dryer we received through Family Fund was a godsend. It made such a difference because Amy is doubly incontinent. There is a lot of washing and drying involved every day.”

“We have also received multiple family holidays over the years which were much needed. They allowed us breaks from hospital appointments, school appointments and everyday life. Thanks to Family Fund, we spent quality time together and have memories we will never forget.”