Sunday, July 31, 2016

Metachromatic leukodystrophy effect on caregivers

Eichler FS, Cox TM, Crombez E, Dali CÍ, Kohlschütter A. Metachromatic
Leukodystrophy: An Assessment of Disease Burden. J Child Neurol. 2016 Jul 7. pii:
0883073816656401. [Epub ahead of print]


Metachromatic leukodystrophy is accompanied by severe motor and cognitive dysfunction. This is the first survey of metachromatic leukodystrophy caregiver perspectives to identify relevant clinical/quality-of-life outcomes for patients/caregivers. Interviews and 1 focus group were conducted with 30 caregivers representing 23 patients. Caregivers were asked about their experiences, including diagnostic process, signs/symptoms, symptoms affecting caregivers' and patients' lives, and treatment priorities. Caregivers reported loss of physical autonomy, weight loss, limited social relationships, frequent crying, and challenging sibling relationships. Most troublesome symptoms were immobility (9/30) and respiratory difficulties (6/30). Health care visits were frequent: 8/22 patients had experienced ≥11 hospitalizations since diagnosis, and 14/22 caregivers reported that these lasted ≥4 days. Caregivers also experienced work problems, feelings of fear/sadness, and loss of social relationships. Caregivers/physicians consider a therapy that could improve decline in mobility, pain, cognitive ability, communication, or food intake as conferring the greatest benefit. In conclusion, a so-far-unreported physical/economic burden in these families is presented.

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  1. A couple have been left utterly heartbroken after all three of their children were diagnosed with a rare and deadly brain condition they unwittingly passed on through their genes.
    Leah and Shaun Scott, 27 and 30, were curious as to why their daughter Paige, three, was slow to learn to walk, and took her to the doctors.

    To their horror, she was diagnosed with the incurable genetic disease Metachromatic Leukodystrophy (MLD), which has a life expectancy of just five years once the symptoms start.
    At the time, Miss Scott was pregnant with twins who had a one in four chance of inheriting the disease.

    She was offered a test while they were still in the womb and told she could have a late termination if it was positive but the couple refused both.

    However, their worst fears were confirmed when at six weeks old, Oscar and Phelix tested positive, meaning they will also be robbed of their ability to walk, talk and see like their sister.

    There is hope for the twins as a medical trial in Italy is showing promising results, and the NHS has agreed to pay for treatment that could prolong their life.

    But Paige's disease is so far advanced it might be her last Christmas with her family, and refusing to leave her behind, they are now raising money to take her to Italy so they can be together before she dies.

    Describing her grief, Mrs Scott, of Norwich, said: ‘As a mother, to be told all three of your children have a terminal disorder is unimaginable, it’s heartbreaking.

    'But there is hope for the twins and we will keep fighting for them while ensuring that we make the most of the time we have together as a family.

    ‘We had no idea that Paige had this condition when we conceived the twins and only found out when I was about to give birth.’

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  2. The news came when Mrs Scott was heavily pregnant and just weeks away from giving birth to identical twin boys, who had a one in four chance of being affected.

    She was offered a chorionic villus sampling test early in pregnancy, which involves removing and testing a small sample of cells from the placenta, which would allow the family to find out if their sons would also have MDL.

    However, as it carried the risk of miscarriage, she refused.

    She claims she was also offered a late termination, which can occur in the UK after the legal abortion limit of 24 weeks - if there is significant risk that the baby would be born with a serious physical or mental disability.

    However, she declined, praying that her twins would not follow the same fate as their sister, who was already quickly succumbing to the disease.

    But sadly tests revealed they did have the debilitating disease.

    ‘I just broke down,' Miss Scott said. 'Nothing on earth can prepare you for being told that all of your children have a terminal condition.

    'It is unimaginable to think all of your children could be taken from you.

    ‘The twins looked so perfect but I knew they would start to regress like their sister.

    ‘We felt so guilty that we passed it to them even though we never knew we even had it.’

    They are thought to be the largest sibling group in the UK affected by the condition.

    Mrs Scott said she and her husband wouldn’t have tried to conceive again had they known about Paige’s condition...

    'For their daughter the future is bleak, but because the condition lies dormant in the twins and they don’t yet show symptoms there is a ray of hope.'

    Consultants at Great Ormond Street, a specialist children's hospital in London, have recommended they take part in pioneering gene therapy trials in Italy.

    Though still in early stages it appears to be so far successful in treating children with MLD before symptoms start to show...

    In the months since the twins were born Paige's condition has deteriorated fast and she now needs 24/7 care under the supervision of a hospice.

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