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Baby Joseph Loses Battle with Leigh's Disease


Baby Joseph, the 20-month-old Canadian child with an incurable condition called Leigh’s disease, lost his battle with the neurological disorder at home with his family on September 27. Joseph Maraachli made headlines months ago when a Canadian hospital declined to treat him further, and the child was brought to St. Louis, where a tracheotomy was performed, extending his life by seven months.

Leigh’s disease is rare and incurable

Leigh’s disease is a rare, inherited disorder that affects a person’s central nervous system, including the brain, spinal cord, and optic nerve. The condition typically appears between the ages of three months and two years, although it can also occur in adolescents or adults.

Leigh’s disease may be caused by mutations in the DNA of mitochondria, which are the energy-producing organelles of cells, or it may be the result of a deficiency of pyruvate dehydrogenase, an enzyme that is intimately involved with energy production. The genetic mutations hinder the energy sources necessary in areas of the brain involved with motor movements and cause a progressive degeneration of motor functioning.

Because the cells do not get the energy they need to survive, they eventually die. Brain cells require more energy than other cells, and so they are the first to be affected.

The first signs of Leigh’s disease are usually an infant’s inability to suck properly and a loss of motor skills and head control. Other symptoms may include vomiting, continuous crying, irritability, seizures, and loss of appetite. Over time the patient loses muscle tone, experiences general weakness, and suffers lactic acidosis, which can lead to impaired kidney and respiratory functioning.

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Some patients with Leigh disease develop eye problems, including paralysis of some or all of the eye muscles, as well as pigmentary retinopathy, which leads to blindness. Swallowing, hearing, and balance are also eventually affected.

In the case of Baby Joseph, difficulty with respiration and the need for a tracheotomy led to his transfer to the United States for treatment. Canadian doctors had recommended Joseph be sent home in March rather than undergo the procedure but allowed the transfer to St. Louise “despite the strongest possible medical advice to the contrary.”

The most common treatment for Leigh’s disease is vitamin B1 (thiamine), although bicarbonate or sodium citrate are also used to manage lactic acidosis. Individuals who have a more rare form of Leigh’s disease, the X-linked form, may be prescribed a high-fat, low-carbohydrate diet.

Regardless of the treatment, the prognosis for Leigh’s disease is poor. Most patients die within a few years, while those who have partial deficiencies of enzymes may live to be 6 or 7 years of age.

In a Facebook posting, family spokesperson Brother Paul O’Donnell noted that Baby Joseph “passed away peacefully at home with his parents and family at his side. Praise God he had seven precious months with his family to be surrounded by love.”

National Institute of Neurological Disorders and Stroke
Reuters Canada