Colin Wells, an actor who has previously played roles in the TV shows Hollyoaks and Casualty, has a son and daughter who are both diagnosed with mitochondrial disease. The source article can be found here, at Sky News.
About Mitochondrial Diseases
Mitochondrial diseases are a group of conditions that are caused by mitochondria that do not function properly. Mitochondria are present in all cells, and play a key role in generating energy.
Since mitochondria are found throughout the body, the symptoms of mitochondrial diseases can be very diverse depending on what areas are affected. People may develop symptoms such as eyesight and/or hearing loss, seizures, muscle weakness, learning disabilities, or problems with organs, including the heart, lungs, and brain. This makes mitochondrial diseases difficult to diagnose, and they can often be mistaken for other serious illnesses.
Rachel and Joseph’s Diagnoses
Colin Wells’s daughter Rachel lost the hearing in one ear around the age of seven and later developed hearing loss in the other ear as well. Then, when she reached her teens, Colin says that she began to lose weight and become clumsy. The family were referred to a geneticist, and they learned that Rachel had mitochondrial depletion syndrome RRM2B.
Following the diagnosis, Colin says that the family found that many doctors didn’t understand the condition and that a “hugely unhelpful” support group advised the family to prepare for the funeral of their daughter. Rachel is now twenty, and uses a wheelchair as a mobility aid, and can walk a little. She is fed intravenously and uses a ventilator at night. Colin says that she is positive, and enjoys reading and riding horses with support.
Rachel’s brother, Joseph, was also diagnosed with mitochondrial disease two years ago at the age of fifteen. Colin says that it can be scary for Joseph and that he often leaves school early because he gets tired and upset.
Colin’s Hopes for Future Research
Colin is hopeful that a cure might be developed that could help his children in the next few years. Both Rachel and Joseph have donated genetic samples for research into nucleoside therapy as a possible treatment for mitochondrial depletion syndrome.
The work is funded in part by The Lily Foundation, an organisation that supports families and research into mitochondrial diseases. Colin says he wishes his family had found the foundation earlier.
“they do amazing work.”
You can find out more about The Lily Foundation and their work by visiting their website here.