Family struck by genetic disease cause children to die young and painfully

Friedreich’s ataxia, a disorder that attacks all of the body’s organs, is a death sentence that leaves the parents of sufferers helpless. Shireena Al Nowais reports.

Sara, 18, and Shahed, 12, who suffer from Friedreich’s ataxia, which killed their brother Mahmoud. Silvia Razgova / The National

ABU DHABI // An Egyptian couple who watched their son waste away until his death at the age of 25 are now watching their two daughters deteriorate from the same illness.

The children have a rare genetic disease, Friedreich’s ataxia, which causes progressive damage to the nervous system.

Their bodies will gradually shut down and they will die young. There is no known cure.

“It is the hardest feeling in the world for a mother to watch her son die and to know that she will also see another two die,” says Umm Mahmoud. “I will have lost all three of them.”

She and her husband, both in their 50s, have been caring for their sick children – Mahmoud, Shahed and Sara – with no outside support.

Umm Mahmoud says she cannot afford to hire help and was told that home care is only covered for UAE nationals on their Thiqa free health insurance.

Patients with Friedreich’s ataxia need physiotherapy, but her children have been denied the treatment.

The girls were treated at Sheikh Khalifa Medical City until a change in regulations a few months ago.

“SKMC just told me that physiotherapy is now only available for Thiqa holders,” Umm Mahmoud says. “How can I go all the way to Mafraq with two sick children, a wheelchair and no help? What job will allow me to take all this time off?

“Can’t they make an exception and allow my daughters to continue their therapy at SKMC?”

Patients with Friedreich’s ataxia are born without symptoms but the disease rapidly develops by the time they are 6. They lose control of their legs and rely on wheelchairs from the age of 12.

Eventually, they lose the use of their arms and go blind before dying of heart failure.

“Every time they had a doctor’s appointment, I was told that another organ in their body is failing,” Umm Mahmoud says.

“Their lungs, eyes, heart, legs, speech – the disease has left nothing.

“I’ve tried to give them every-thing because I knew that death could take them from me at any moment. I wanted to make their little time in this world as happy as possible, but I can’t any more.”

Umm Mahmoud has had to have knee surgery from carrying her children and their wheelchairs to and from their many hospital appointments. But she is grateful to the country.

“I wouldn’t have found such a comfortable life in Egypt for my children,” says Umm Mahmoud, who came to the UAE in 1983.

“My son’s dying wish was to be buried in Abu Dhabi and I granted his wish. “I can only hope that I can do the same for my two daughters when their time comes.”

Mahmoud was buried in 2013 in Baniyas. He was blind and paralysed when he died of heart failure.

His sisters were deeply affected by his death.

“My daughters cry every day and beg me to save them. Shahed is scared of being in a wheelchair like Sara, and Sara is scared of going blind like her brother.”

Umm Mahmoud has two other children, who do not have the disease, but she is still worried about their future.

“What will happen to us if they fire me from my job? How will I be able to take care of them? How can I afford their treatment?”

Umm Mahmoud says she does not want charity.

“I just need assistance. I want support from the Government to take care of my two remaining healthy children. I can’t afford to offer them education.

“I also can no longer carry Sara and take care of Shahed on my own. Sara needs someone to help her at university. Now a few of her friends pity her and help her out but not always.

“If there is any treatment then I’d like to save my beautiful Shahed before she sits on a wheelchair and Sara before she goes blind.

“I’ve heard that in China they can delay her need of a wheelchair. At least she can have a few extra years.

“I know there is no cure but any delay in its progression, even if for a day, makes a difference.”