Sophie is a happy, smiling 18 year old who lives in Danbury with her parents, Allison and Stephen, and her younger sister Charlotte who is 16.
When Sophie was just a year old, her parents were concerned because she was not meeting her development milestones: she was quiet and could not roll over, crawl or stand.
She was referred to a consultant and had blood tests but it was only after genetic tests that Sophie was finally diagnosed with Rett Syndrome when she was two and a half.
Rett Syndrome is a rare genetic disorder that mainly occurs in girls. As she has grown older, it has affected Sophie’s physical and mental development so she is now dependent on others for her care needs and cannot verbally communicate.
Sophie goes to school and sometimes Allison needs help caring for her after she returns home. She explained: “I was looking for some help for a couple of hours so I could go out and do things like food shopping - but Sophie has complex care needs so I had to find someone who I could really trust to look after her.”
Alison first heard about The J’s Hospice through a friend whose daughter also has Rett Syndrome. She decided to contact them and the charity arranged for one of The J’s Specialist Nurses to visit the family.
Alison said: “She was very friendly and put us at ease straight away. I thought a hospice was only for people who are really poorly but she explained the range of services that The J’s Hospice provides including specialist nursing, advice, respite care in the home and social groups and we were very impressed. The J’s care is tailor-made to fit the specific needs of each young person and they also understand the importance of the social side of life too which is brilliant!”
It was arranged for two Health Care Assistants to visit for three hours after school on a Friday evening, providing some precious respite for Alison. “They are so capable and very professional and so I felt confident to leave Sophie with them. They bath her and read to her which she really enjoys.”
The J’s Hospice has now been caring for Sophie for 18 months and her family are very grateful for this support. “Nothing is too much trouble for The J’s – they understand that we need some flexibility because of Sophie’s condition. You can feel isolated at home at times so it’s great that they come out to visit us in our family environment. It’s wonderful to see that Sophie has built such good relationships with the health care assistants and really enjoys their interaction.
“Our J’s Nurse is really helpful and capable. I needed to order some medicine from the doctor and, if I’d sorted it out myself, we might have had to take Sophie to the surgery which isn’t easy. She gave the doctor a call and it was sorted within minutes, which is a huge benefit to me and reduces the stress associated with these things. She also follows up on blood test results for us.”
As Sophie is 18 now, the family want her to experience a wider range of activities and were delighted when she was invited to The J’s Inspire! social group which meets seven times a year.
“Sophie thoroughly enjoys Inspire! Everyone is so friendly when you arrive and you can tell that they put in a lot of time and effort into organising the activities so that everyone can participate. Sophie particularly enjoys the music and sensory activities. She is quite shaky and her hands are normally clenched so they massage them for her. They’ve also got her to tap on some drums which made them relax which was lovely to see!
“Inspire! allows Stephen, Charlotte and I a valuable couple of hours together knowing that Sophie will have a really lovely time safe in the knowledge that there is the medical back-up appropriate for her needs in order to keep her safe.”
The J’s also arranged for Sophie to have six weekly sessions of music therapy at her school which she really enjoyed.
Sophie is now transitioning from children’s to adults’ services which can involve a range of local organisations, so Allison is glad to have the support of The J’s throughout this process. “The specialist help from The J’s has made the transition much easier – they have taken a great weight off of our minds. The meetings can be daunting but our nurse and The J’s Clinical Team Leader have come along to them with us. They have both been excellent, asking the right questions about the medical side of things for us.”
The care and support that Sophie has received from The J’s Hospice has had a positive impact on the whole family.
“We feel really lucky that we have The J’s Hospice to support us. Life would be much more difficult without the additional care and respite and the staff are lovely. You can tell that it’s more than just a job for them and they are genuinely interested in Sophie. They’ve built a great relationship with the family and they make her smile and laugh!”
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