Two week countdown to Marc"s transplant

Catriona Loughran • Published 6 Jul 2009 13:49 0 Comments

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Adel Elliott, the mother of Marc, the Enniskillen four-year-old suffering from inherited disease-adrenoleukodystrophy (ALD), is to undergo genetic tests to establish where in her family the defective chromosome originated that caused Marc"s life-threatening illness.

It"s hoped that if doctors find this out, it can alert Adel"s extended family about the chances of the disease developing in their children or future children as they stand a better chance of treating the disease in its early stages.

In around two weeks" time, Marc will have to under-go a risky bone-marrow transplant in England to help prolong his life and prevent the disease causing any further damage to the brain or glands.

After coming to terms with their eldest son"s cruel illness, the Elliotts suffered more grim news last week when results confirmed Marc"s baby brother Matthew could also have the same life-threatening illness.

Doctors have said Marc suffers from x-linked ALD, which is estimated to affect 1 in 17,000 newborns, and is a genetic abnormality involving the X-chromosome being passed on from his mother and developing into ALD.

In genetics, women have two X-chromosomes and men have an X and Y-chromosome.

If a woman is a carrier for X-ALD she has the following possible outcomes with each newborn, when the child is a daughter, there is a 50 per cent chance the daughter is a carrier for X-ALD and a 50 per cent chance that the daughter is unaffected.

But if the newborn is a boy, there is a 50 per cent chance the son has contracted X-ALD and a 50 per cent chance he will be unaffected.

For a sex-linked disorder, such as X-ALD, if an affected man has children, then all of his sons will be entirely normal (he always passes his Y-chromosome to his son), but all of his daughters will be carriers (he always passes his only X-chromosome to his daughter).

Doctors from the Royal Victoria Hospital"s Genetics Department have said it"s a possibility this has happened with Adel and have invited her to be tested to determine the history of the X-chromosome in her family and whether it was passed on to her from her father.

If it has been passed on, his immediate family will also have to be tested, which could mean tests for his four brothers and five sisters and tests for their children.

'It"s going to give the doctors a better understanding of how the disease has developed in Marc and how many generations it passed through in to get to Marc. If the results come back that I am a carrier and it was passed on from my father, it will have to get tested and so will his brothers and sisters and possibly even their children so it"s going to be a long drawn out procedure for everyone,' said Adel.

She said the tests will benefit her family in the long run so they can immediately find out whether or not Marc"s future cousins have the illness.

'It"s a chance to give my family piece of mind and to raise awareness among us all that there could be a chance of some of us passing this chromosome on to our children and if this is the case, and God hope it isn"t, they can prepare for treatment as it is better if babies are treated right away to stop the disease developing unlike ourselves, who had to find out four years later about Marc"s ALD.'

Meanwhile, the Elliotts will also find out this week if Marc can still take lorenzo"s oil, the miracle oil, which can help reduce ALD symptoms.

But doctors claim taking this oil can effectively lower the amount of white blood cells in the body and if the doctors find that this is the case, Marc will have to be taken off the oil immediately.

A real setback for the Elliott family, who fought for so long to get the expensive oil on the NHS.

Baby Matthew has already started taking the oil and the Elliotts are sent two 500ml bottles a week with Marc requiring a dosage of one bottle a week. He also has to take 2ml of walnut oil a day to reduce the build of long chain fatty acids in his brain.

Doctors at Bristol Royal Children"s Hospital have said it is only a matter of weeks before they call Marc to have his central line inserted into his body in preparation for his bone-marrow transplant. They also told the Elliotts they could have to stay in Bristol for up to six months before Marc is well-enough to travel back and recover at home.

Adel said she is getting more nervous as the days go on.

'Every time we hear the phone ring we think it"s Bristol. It"s a waiting game and it is very nerve-wrecking, but our little boy is full of strength and he keeps us strong so we will just have to brave and face it when the time comes,' she said.

The Elliotts are hoping that Marc can still take the Lorenzo"s Oil, so they can prepare for his fifth birthday celebrations taking place on Wednesday, July 8.

This article appeared in Impartial Reporter 02 Jul 09

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