25 September 2017   |  Last Updated 19-12-2014 03:53

      Mum holds fundraiser to raise awareness of daughter’s rare genetic disease

      A YOUNG mum is hoping raise awareness of the disease MCADD after her daughter was diagnosed at just 10 days old.

       

      A fundraising event will be held at the Acres Inn pub in Denton on Saturday and all money raised will go to Climb, a charity for children with inherited metabolic diseases.

       

      Sapphire Amelia-Rose Merriman was diagnosed with the rare genetic disease which stands for Medium-chain acyl-CoA dehydrogenase deficiency, meaning that the body struggles breaking down fatty acids for energy. Sapphire was born two weeks early and her mum, Jessica Booth, says she was always a sick as a baby.

       

      Jessica was told the devastating news on her anniversary to her fiancéRyan Merriman, “Ryan would say she still is perfect,”says Jessica, 21, “but all I could think was she’s a now a number and not my perfect princess and other people wouldn’t see her a perfect, they would see her as Sapphire with MCADD.”

       

      Only one in 10,000 babies are diagnosed with MCADD each year. The disease has symptoms of tiredness and sick and can lead to seizures and more fatal complications such as brain damage, liver failure or going into a coma which she nearly has twice.

       

      Although it is unlikely for parents to have MCADD, it is an inherited condition where the child will have a faulty or missing enzyme that breaks down fatty acids. Although the disease is treatable it is incurable and people with it should not go for long periods without eating as fats can build up and have a toxic effect.

       

      Sapphire was screened at just 10 days old, and had to go hospital the next day where consultants explained to Jessica and Ryan the special attention that their daughter would need such as feeding her Polycal, which is glucose mixed with water. As a result of this, she can no longer than 3 hours without food.

       

      “When we got home I had all sorts flying around my mind; I then turned very overprotective of Sapphire. I wouldn’t let her out of my sight; wouldn’t let anyone feed her and wouldn’t even let Ryan do anything with her. I did everything.”recalls Jessica.

       

      Jessica, who was 19 at the time when Sapphire was born, was later diagnosed with Post-Natal Depression, “I never wanted to go out, I just wanted to stay in where it was just me and my perfect princess. I was told I needed to enjoy Sapphire and not wrap her up so much.”

       

      When Sapphire was 2-weeks-old she had her first admission and was struggling to drink Polycal due to vomiting. Jessica remembers the upsetting time; saying she felt helpless watching as doctors pinned Sapphire down to inject a drip which she was left on for a week.

       

      Now 2-years-old, Sapphire is due to start nursery in January. However, she can only go in the morning due to Jessica monitoring her eating.

       

      Sapphire still struggles with pain but remains happy and sings and dances, “Yes, Sapphire has MCADD but it makes her that bit more special, if she didn’t have it she wouldn’t be Sapphire. I couldn’t go through half of what she has, it’s her strength that pulled me through this.”

       

      Jessica and Ryan; both aged 22 now, welcomed Skyla Ivy-Rose Merriman to the world three months ago. She had a one in four chance of having the genetic disease but has recently tested negative for it.

       

      The fundraising event held on Saturday will include the whole cast of Disney’s Frozen, Peppa Pig, a free buffet, face painting as well as Father Christmas with presents. All money raised will go to Climb which helps out families affected by the disease as well as raising awareness to get babies tested for it. Tickets for the event are free for adults and cos £5 for children.

       

      For more information contact Acres Inn or search Climb Charity Event on Facebook to contact Jessica.


      By Tamsin Dyson

        •