Funds needed for genetic test for toddler
The genetic test for this syndrome can only be tested in America, at a cost of R7,900.
Faron-Mae Fisher, a four-year-old little Toti girl who is living with Glycogen Storage Disease type 0, could have another genetic syndrome and needs to have DNA testing done.
She is the only known child in South Africa to have this rare genetic disease, with less than 1,000 diagnosed worldwide. Faron can never be cured of her condition.
Her body cannot store glucose in the form of glycogen in her liver for energy to be used by her body, due to her genetically defective enzyme. This results in dietary carbohydrates being converted to lactate instead of being stored as glycogen in the liver.
Faron is unable to eat or drink anything due to her developmental delay as a result of her condition, affecting her eating ability, speech, motor skills and all developmental milestones.
She is fed through a percutaneous endogastrostomy, a feeding pump through a hole in her stomach, to meet her nutritional requirements.
Faron has learnt to sit as a result of weekly physiotherapy and occupational therapy and is learning to kneel and put her arms forward. However, she cannot stand or walk as yet.
“We have become accustomed to life with a GSD type 0 child,” said her mother, Paula.
“Now we suspect she may have another genetic syndrome, in addition to her GSD type 0.”
The genetic test for this syndrome can only be tested in America, at a cost of R7,900.
“We appeal for any help to raise these funds to have this testing done for Faron-Mae.
Our community has supported us so often in the past and for this we are so grateful. It has helped us pay for her special school and a lot of her therapy and dietary requirements and feeds.
If these tests confirm the suspected syndrome, Faron-Mae will be able to begin treatment which will have a massively positive affect on her development and for her to reach her milestones.
Thank you in advance from the bottom of our hearts.”
If you are willing to deposit any funds that you may have to help the Fishers fundraise, the banking details are:
The Faron-Mae Fisher Trust: FNB, It number: 933/2012 (Durban), business account, account number: 62382573783, branch code: 250655.
