Demands are being made to help save hundreds of lives lost each year to rare diseases - by having better access to newborn screening following the deaths of boys suffering from a rare nervous disorder made famous through the film Lorenzo's Oil.

One rare diseases charity supported by a Scots grandad who is living with an incurable life-threatening genetic disorder says that changes should be made to save lives and relieve unnecessary suffering.

Alex, the Leukodystrophy Charity (Alex TLC) has tried in vain to have Adrenoleukodystrophy (ALD) added to the UK newborn screening programme. Since an attempt was made through the UK National Screening Committee (UKNSC) in 2017, the charity says it knows of 29 boys who have been diagnosed with untreatable childhood cerebral ALD and nine have died.

What is ALD?

It is a disorder that leads to progressive brain damage, failure of the adrenal gland and eventually death. It occurs because a flawed gene on the child's X chromosome means his body cannot produce an enzyme needed to break down fatty acids which can accumulate in the brain.

Does it have an alternative name?

The condition used to be called Addison-Schilder’s disease, after the doctor who first recognised it in 1923.

READ MORE: Scots newborn baby screening concern as 'Lorenzo's oil' boys die

How is the condition inherited?

It may be inherited from one or both parents. ALD most severely affects males when it can either develop during childhood or during adulthood. Women who are carriers for ALD develop a milder form of the disease during adulthood.

How common is it?

It affects around one in every 20,000 males.

What are the symptoms?

The symptoms often develop between the ages of four and 10 but can also emerge much later in life. The symptoms include loss of vision, progressive dementia, learning disabilities, dysphagia (difficulty swallowing), seizures, deafness, lack of coordination and balance, fatigue, intermittent vomiting, weight loss, lack of appetite, nausea, darkening of the skin, muscle weakness, low blood sugar and headaches in the morning.

Is it fatal?

The three main types of ALD cause different severity in symptoms. In childhood cerebral ALD (CALD), symptoms start appearing from ages 4 to 10 and progress rapidly. Prognosis for these patients is poor, with death occurring within five to 10 years of diagnosis if left untreated.

Adrenomyeloneuropathy (AMN) is the adult-onset form of ALD that is seen in about 25% to 46% of ALD cases. Symptoms usually appear from ages 20 to 30, and are milder than those of CALD. Life expectancy depends on whether or not the brain is affected. Patients whose AMN has no brain involvement have a better prognosis and can lead normal lives with proper symptom management.

Another form of ALD called Addison’s disease is seen in about 10% of ALD patients. Addison’s disease causes damage to the adrenal glands, which results in the production of lower quantities of adrenal hormones such as cortisol, aldosterone, or both. Addison’s disease can be fatal if left untreated. However, the impact of Addison’s disease on life expectancy can be minimal if symptoms are managed with corticosteroid replacement therapy.

Is there a treatment?

No effective treatment is yet available to reverse the damaging process. However, stem cell transplantation may stop the progression of ALD if done when neurological symptoms first appear. But some experts say the results of this are, as yet, uncertain and the process itself is a very high-risk procedure.

Doctors tend to focus on relieving symptoms and slowing disease progression. Dietary changes (including the use of Lorenzo’s oil) slow down, but do not halt the progression of symptoms if used from before or soon after symptoms develop.

What is Lorenzo's oil?

Named after a child, Lorenzo Odone, who developed ALD, it is a mixture of oils that his parents discovered seemed to slow progression of the disease. The Leukodystrophy Charity (Alex TLC) says it is a mixture of two oils - glyceryl trioleate and glyceryl trierucate) - and was initially conceived as a potential treatment for ALD due to its effects on the breakdown of very long chain fatty acids.

The Herald:

It says there were great hopes that Lorenzo’s Oil could either slow the progress of ALD or prevent it from starting. But it says that so far Lorenzo’s Oil has not lived up to its promise and this has left many parents "agonising" over the decision over whether to start their son on the oil therapy.

The therapy became the title of the 1992 US drama film directed and co-written by George Miller based on the true story of Augusto and Michaela Odone, the parents who searched for a cure for their son ALD. It garnered two Oscar nominations at the 65th Academy Awards.