Nine-year-old Heidi Cook is one of the 100. She has beta-propeller protein associated neurodegeneration (BPAN), which is an NBIA, or neurodegeneration with brain iron accumulation disorder that was only described in 2013 by a team of US researchers.

Currently at stage one of the condition, she exhibits limited mobility and speech. "Everything has to be done for her. It's like having a baby in a nine-year-old's body,” explained her mother, Kerry Cooke, from Leicester in the UK.

The 38-year-old is understandably distraught at her daughter’s condition. "She has always been disabled and we thought she just had delayed development, but in fact she's declining,” she said.

Mother expected to outlive her 9-year-old

“I would have been preparing for what happens to Heidi after I have gone, but now I'm expecting to outlive my own daughter. It is quite devastating."

Nevertheless, the mother of two has taken it in stride and is training to be an occupational therapist at the University of Northampton so that she may care for her daughter and help others in the UK who are diagnosed.

Caused by a genetic mutation on the X chromosome that was only identified in 2006, BPAN is characterised by childhood developmental delays and seizures, followed by vision, physical and mental problems that progressively worsen with age. Other effects include a weakened immune system, poor muscle tone and limited flexibility.

There is currently no specific treatment for BPAN. To delay the onset of her condition, Heidi takes medication for those with Parkinson’s disease. Ms Cooke has started raising awareness and funds for further research to understand BPNA, as well as for alternate treatments.

"I'd love for Heidi to live a long and happy life," she declared.

Most BPAN sufferers tend to be female

The McBurney family share her sentiment. Their 20-year-old son, Elijah, was diagnosed with BPAN last year. His is an interesting case – most BPAN sufferers tend to be female, and boys who have it tend not to live past childhood. However, Elijah has a mixture of healthy and mutated cells which also allow him more range of function than other NBIA patients.

Elijah’s parents ensure that their son lives as long and healthful a life as possible. "He eats a lot of brown rice, sweet potatoes, vegetables and green tea. But he does love his pizza, so I let him have it now and then," said his mother, Donna. They regularly exercise with him. Such a lifestyle has improved his muscle tone and mobility.

Like Ms Cooke, Elijah’s parents want to understand how BPAN affects their child, and raise awareness of the disease. They are working with two medical professionals - Dr. Susan J. Hayflick, a Portland-based geneticist specialising in NBIA disorders, and an unnamed specialist at Massachusetts General Hospital who is running a set of intensive genetic tests on Elijah.

"I'm not looking to change who he is. I just want to save his life. He is who he is, and I want him to make gains on his own terms," said Donna.

Woman finally diagnosed with BPAN thirty years later

The rising awareness comes as a breakthrough to others like the Gallasch family, who had lived for more than 30 years without an answer as to why their daughter Amy would never walk or talk. Not giving up the search for answers, they finally connected with Professor Philip Thompson, head of the Royal Adelaide Hospital’s neurology unit, who diagnosed Amy with BPAN in 2014.

“We were very lucky that we were able to send Amy’s DNA to London who kindly did this for free, and lo and behold they came up with a positive answer,” he said.

Amy’s case was the only one he had seen, despite him having been a neurologist for over 30 years. The diagnosis was further confirmed through genetic testing at The Women’s and Children’s Hospital at Adelaide.

The diagnosis came as a relief to the couple. “Over the years we’ve felt a guilt, is it something we have done or haven’t done? It was an overwhelming guilt from time to time,” said Mr. Gallasch.

Knowing the answer also enabled them to access more sources of emotional and social support. Mrs Gallasch has joined a closed Facebook group for BPAN families around the world.

Amy is one of the 25 people over the age of 30 with BPAN, and she did learn to walk and feed herself. Yet, the effects of BPAN are robbing her of her gains. “We’d worked so hard and we’d pushed her and she’d done what she could and she’s just losing it… it’s slow and insidious and there’s no stopping it,” said Mrs Gallasch. MIMS

Read more:
Rare disease caused a woman to starve to death
5 exceedingly rare diseases
Olmsted Syndrome: The rare genetic disorder that labelled three girls as the 'untouchables'

Sources:
http://www.bbc.com/news/uk-england-leicestershire-38798235
http://www.benningtonbanner.com/stories/pittsfield-family-fights-for-son-living-with-bpan-disease,489185
http://news.bbc.co.uk/2/hi/health/5088416.stm
http://www.abc.net.au/news/2016-06-18/adelaide-family-learns-to-cope-with-rare-disorder-bpan/7512474