A Glimmer of Hope

Leigh's Disease is caused by various deficiencies in one or more types of enzymes and can result in more than one consequence. Depending on the type of enzyme deficiency and resultant effects, there are a number of treatments that can be administered. However, there is currently no specific permanent cure for such a mitochondrial disorder.

 

What Can Be Done Now -- Common Prescriptions

•  Thiamine and vitamin B1

Help to temporarily slow down the progress of the disease and relive the uncomfortable symptoms experienced.

• High fat, low carbohydrate diet.

 For patients who are diagnosed to be deficient in pyruvate dehydrogenase.

• Oral sodium bicarbonate or sodium citrate.

 In cases of patients who experience lactic acidosis.

•   Tris-hydroxy-methyl-aminomethane  

In other severe cases. Aim to lower the high acid levels in the blood and the brain.

•  Reference to an ophthalmologist 

In events of eye problems. Seeking professional assistance to get more help to ease the condition.
 

A Glimmer of Hope - Too Far Away

To prevent similar occurrences of such unfortunate events in future families with parents whom have been genetically identified to bear the possibility of giving birth to a baby with such disorders, the medical field have made certain breakthroughs in their experiments and research to help benefit more people. One of such treatment is known as the Three-Parent-In-Vitro-Fertilization (IVF).

British's take on 3-Parent IVF treatment.

UK's take on 3-Parent IVF treatment

Under this treatment, the genes that are responsible for the defective mitochondrial enzymes are replaced with functional ones, thus resulting in a healthy baby. As much as this treatment provides great promise in creating a future void of all mitochondrial diseases, this treatment has yet to receive the green light in the world because of various ethical issues and safety concerns. Since the resultant baby would have 3 genetic parents and it involves the manipulation of the original DNA that the baby was supposed to inherit, some of the people stated that this treatment was ‘meddling around with the delicate building blocks of life'. In addition, this technique also has its limitations in safety. Under the current law, only after the embryo have been placed in the mother's womb and left to develop for 14 days, then will they be allowed to screen the embryo for any long-term health implications. Hence, this technique is not exactly the best alternative to guarantee that the baby is healthy. There is always a possibility of producing a baby that is inflicted with long-term health implications in the process due to unforeseen circumstances, which may result in the endangered lives of the baby and the mother. Nonetheless, Britain and United Kingdom are intending to go ahead with this treatment because they see a great potential in it to successfully prevent such inherited diseases that affect many families in their country.

A Glimmer of Hope - A Step Away

The above mentioned treatment mainly targets mothers who have been diagnosed with the possibility of passing her defective mitochondrial genes to the children, thus resulting in the disease. However, there are currently children who are born with the disease and they are struggling to survive. Their parents would not have known that their child would suffer under the fate of Leigh's Disease until they are born. This would only mean that the parents would have to inevitably undergo the fear and pain of losing their child to such a genetic disease any moment, just like the Bernadis. For now, there are no approved drugs in the market that are able to treat Leigh's Disease in the children who have received confirmed diagnosis. For parents like Lori Martin who has a child with Leigh's Disease, a glimmer of hope was seen when the scientists have successfully created an experimental drug that provides some promise in reversing the effects of the disease. It allows the syndrome to be considered as curable in the near future. This drug is known as the EPI-743, developed by Edison Pharmaceuticals. It is currently in the clinical trials phases and one of the subjects in the trial is Will Martin. Will Martin was diagnosed with Leigh's Disease and is predicted to not survive past his seventh birthday. His mitochondria are producing energy that are barely enough to keep him alive. Currently, he is under the treatment of EPI-743 and is producing results which reflect progress in his condition. His mother, Lori Martin, is keeping her hopes high as she commented that Will has been taking EPI-743 for over a year, and she thinks it's helping. He has fewer falls, better bowel movements and has started to talk in sentences.

A Hope or A Disappointment ?

As much as this drug shows great promise, it is still not approved by the FDA and is in the midst of clinical trials. The only way for parents to get their hands on the drug and grab onto that glimmer of hope in curing their beloved ones, is to send their children as subjects of the clinical trials. However, there are specific criteria that are required in order for them to qualify for the trials. Hence, the drug still remains unreachable for many children out there in the world, who may lose their life any moment. They might be unable to live long enough to witness the approval of an official cure that they have been waiting all their life. So far, the clinical trials are going smoothly and it is highly possible that in the future, it is able to help cure thousands of children inflicted with the disease.It is unapproved but currently, it is the only hope that people can pray for and hold on to.