10 March 2022
Hayley, from Scotland, says that Sciensus’ consistency of service has made a real difference for her and her young son. Jacob is one of Scotland’s youngest patients to receive enzyme replacement therapy for Fabry’s disease.
Hayley and her young son were first introduced to Sciensus by their NHS consultant in August 2019, when Jacob started receiving enzyme replacement therapy following his diagnosis of Fabry’s disease.
Known as a lysosomal storage disorder, Fabry’s is an inherited disorder that affects many parts of the body. Enzyme replacement therapy treatment can be used to stabilise and improve the symptoms.
Treatment at home is ‘perfect’
Jacob’s mum Hayley had been taking him for treatment in Glasgow – around two hours away from home – for the first few weeks following his diagnosis. Then their hospital consultant gave them the option of receiving care directly from Sciensus and they jumped at the chance.
“We had to travel to Glasgow for the first six infusions and it was exhausting,” said Hayley. “Jacob was always tired after the treatment anyway and the long journey made things worse. It’s absolutely perfect for us to have the treatment in our home instead.
“Jacob needs the enzyme replacement therapy every two weeks and having the Sciensus nurse come to us has made a huge difference to our lives.”
Consistency of care
Jacob was just three years old when he started receiving treatment. While he does need to take a day off from school for each therapy visit, Hayley says it’s still a great improvement on having to make the long journey to Glasgow each time. Even better, they have the same Sciensus nurse – Emily – for every visit, and the consistency of care has made Jacob much more comfortable.
“We have the same nurse all the time, and Emily has built a great relationship with Jacob. He has to be cannularised for every treatment, which can be traumatic, but Jacob actually looks forward to seeing Emily. While Jacob and I were initially nervous about her visits, especially around the cannula, he does really well now, supported by the way Emily interacts with him.”
Expert support on hand
Hayley knows that she can ask their Sciensus nurse, Emily, anything about Jacob’s condition.
“I have found liaising with Emily the best way to get the information I need; she has that ongoing relationship with us and clearly understands Jacob’s condition and our personal circumstances,” said Hayley.
Hayley also was also able to agree night-time deliveries of medication between 5-10pm that fit around the other demands on her time, with exact delivery time updates available online.
Looking to the future
“The service we receive from Sciensus is a big benefit for us and it must be the same for other families,” said Hayley. “I have been told that in the future it should be possible for Jacob to receive his therapy at school, which will mean less disruption to his education. He’s currently in primary one and I’m glad to hear that Sciensus can adapt how they work with Jacob to help him get the best chances as he progresses through school.”