Baby Charlie Gard was born with an inherited rare disease - mitochondrial depletion syndrome -which left him with irreversible brain damage and unable to move. His parents wished to take him to US for a trial treatment and raised £1.2m towards doing so. However, on 11 April 2017, the High Court Judge, Mr Justice Francis held that the best interests of the child prevail and should be taken into account.
With this in mind, he held that Charlie needs to be left to die peacefully, and that he should not be put through more pain and suffering.
What is Mitochondrial DNA Depletion Syndrome?
Mitochondrial DNA depletion syndrome (MDS) refers to a group of disorders that cause affected tissues to suffer from a significant drop in mitochondrial DNA.The DNA is found in the mitochondria of cells – an organelle found in most cells in which respiration and energy production occur. This means that sufferers do not get energy to their muscles, kidneys and brain, as was the case for Charlie Gard.
MDS is typically fatal in infancy and early childhood. There is currently no cure but some treatments have shown a reduction in symptoms.The Law Despite the High Court Judge ruling against Charlie’s parents’ wishes, they will be appealing the Judge’s decision. The doctors will not be withdrawing the life support treatment immediately as his parents have 21 days to lodge an appeal.
If their appeal is successful, the life treatment will not be turned off until a decision from the Court of Appeal has been passed down.
How to get tested for Mitochondrial Depletion Syndrome?
As the syndrome is an inherited disease, parents can be tested for any such syndrome prior to the child being born. It is important to contact a medical genetics department at a local or regional medical centre to coordinate testing. Of particular importance is to have a genetic counsellor involved as they will be able to effectively communicate the nature of the diagnosis and complex medical information in a way that is easily understood. If the physician thinks from clinical symptoms that you may have the disease, they may begin with a number of tests, each of which is sensitive enough to provide a diagnosis.
This includes use of genetic sequence testing of the TYMP gene which typically detects 100% of the genetic changes that can cause the disease. Alternatively, a blood test can also be used to look at reduced levels of thymidine phosphorylase enzyme activity or elevated blood concentrations of thymidine and deoxyuridine. Both of these biochemical tests look at levels of the protein or its target to assess if the body is appropriately functioning. If either of these levels are out of the normal range, the tests are unique and sensitive enough to establish a diagnosis of the disease.
If you have asked a medical practitioner to conduct such tests and they declined, and as a result you discovered that you (both parents) in fact carry the faulty genes and the baby inherits the same, there is a potential claim for damages against the medical practitioner or the hospital.
For more information on how to make a claim if your doctor has refused to conduct a test, please do not hesitate to contact Duncan Lewis Clinical Negligence Solicitors.
Petia Georgieva, the author, is a Trainee Solicitor at Duncan Lewis, who is currently doing her second seat in Personal Injury. Petia speaks fluent Bulgarian and French at intermediate level. Petia is currently handling all aspects of Personal Injury matters such as road traffic accidents, employers’ liability claims and public liability claims.
