Erin Heasley started noticing something was wrong with her son, Riley, when he was only nine months old in 2009.
He was not developing at the same rate as other babies his age in Longmont, Colorado. He started sitting up far later than he should have done and did not walk until he reached 20 months.
Even then, he had to hold on to things when he walked to steady himself.
As his peers started chattering, Riley could only say about 35 words and he struggled to put two words together.
Concerned, Erin, who was 17 at the time, took him to doctors. They were perplexed by his symptoms.
Some thought it was Angelman syndrome, a genetic disorder that causes developmental problems, but tests came back negative.
It was not until Riley was three-and-a-half years old, after years of testing, that doctors figured out what was wrong. He diagnosed with Pantothenate Kinase-Associated(PKAN), a terminal brain disease that affects just one in a million children.
Now, 25-year-old Erin and her family are desperately trying to fund research for a cure as they fear he may not have long left.
Erin Heasley, 25, held her son Riley, eight, who suffers from a degenerative disease called Pantothenate Kinase-Associated Neurodegeneration, last summer, when Riley was in the hospital for seven-and-a-half weeks
The rare disease – which can progress in a matter of days – is caused by iron deposits accumulating in the brain and typically shows up during a child’s first 10 years.
It robs children of their eyesight, speech and ability to swallow. It hinders their mobility and they experience dystonia, which causes intense muscle spasms.
Erin’s mother Janis Heasley, 60, told Daily Mail Online the family was floored by his diagnosis.
‘Riley’s a normal kid. He fell a lot but he was normal,’ she recalled.
She described the day doctors delivered his diagnosis as ‘horrific’.
‘They said Riley has PKAN and explained what it was and that there’s no cure and it’s terminal.
‘[Erin] kept saying, “No, no, no, you’ve missed something. That’s not right.” I, being the elderly one, just held her,’ Janis said, fighting back tears.
She said that her daughter struggled to face the reality of Riley’s disease for a few years but has now come to grips with it.
‘She didn’t want to talk about it for a few years. She didn’t want to research or look into it. I, being the more realistic one, did the research.’
She said Erin was 16 when she had Riley. ‘She was a young mother struggling to come to terms with what the doctors had told her. But she fights hard for Riley and she turns into a mama bear if you cross her,’ Janis said.
Janis’s daughter-in-law Heather, who is married to Erin’s brother, found out about a clinical trial for PKAN called the Deferiprone Study. Riley participated in the study at the Children’s Hospital Oakland in California.
Riley’s younger brother Mason, six, kissed him on the cheek when Riley was in a coma last summer. Riley was put into three medically induced comas during one hospital stay, the last of which saved his life
Erin, who works as a waitress because of the quick money that it allows her to bring in, posed with her two sons in March last year
But the trial was unsuccessful in finding a cure for PKAN and at the beginning of last year Riley started experiencing muscle spasms for the first time.
His most unstable period yet arrived last summer. He was in the hospital for seven-and-a-half weeks and went into three medically-induced comas. After the last one, he became more stable.
WHAT IS PKAN?
- PKAN affects one in a million children
- There are two types of the disease but the classic type develops in children around three-and-a-half years old
- Children with PKAN are sometimes originally perceived to simply be clumsy, as they struggle to walk
- As the disease progresses, falling becomes common
- Children with the illness eventually lose the ability to swallow, their eyesight, their mobility and their speech
- Many children with PKAN die before the age of 10
‘That coma is the one that saved his life and stopped the dystonic storm,’ Janis said.
Erin, who works as a waitress because of the quick cash that the job provides her, was not able to work during Riley’s hospital stay last summer so she was fired.
The expenses became overwhelming. Riley’s disease meant that he constantly needed things that other children did not need, such as a wheelchair ramp, a special bed and a special bathtub.
The family organized a motorcade fundraiser called the Ride for Riley, in which motorcyclists and drivers of other vehicles participated. They raised $ 3,800.
The second annual Ride for Riley is being held in Longmont this Saturday and the family hopes to raise $ 350,000.
‘We would like to at least double from last year’s amount, if not more,’ Janis said.
While last year’s proceeds went to the Heasleys so they could buy Riley all of the specialized products he needs, all of this year’s funds will go to the Spoonbill Foundation, which is working to find a cure for PKAN.
‘Everything goes to the Spoonbill Foundation. We are just trying to do our part with helping out. The sooner we get [the cure] the sooner Riley can learn to run and play with his brother and cousins again.’
She and Erin experienced a moment of hope when Riley, who had been declared legally blind and who doctors said would never see again, was able to see his mother one day.
A hospice nurse now comes to Riley’s house two times a week. A special education teacher from his public elementary school also comes, in addition to speech and occupational therapists. Riley is pictured above celebrating his birthday in October
WHAT IS DYSTONIA: THE MUSCLE-SPASM CAUSING SYMPTOM OF RILEY’S DISEASE
- Dystonia, a symptom of PKAN, causes people to twist and move involuntarily
- Areas of the body that dystonia can affect include: neck, eyelids, tongue, jaw, vocal cords, hands and forearms
- There is no cure for dystonia
- Some forms of it are inherited
- It can be a symptom of diseases such as Parkinson’s, Huntington’s and Wilson’s
Riley was watching TV and Erin walked between the screen and her son.
‘He followed her with his eyes. She looked at me and I said: “What’s happening?” and she said: “I don’t know but hand me that balloon.” I handed her the balloon and she said: “Riley, look at this balloon,” and he followed it!
‘Erin said, “Where’s your mommy?” He looked at her, and we both just burst into tears.’
Janis and Erin, who live together, look after Riley round the clock, splitting up the duties.
‘Erin and I work well together,’ Janis said, describing their system as ‘co-parenting’.
They feed Riley five times a day, starting at 5am and ending at 11pm, so he he’s had enough calories to maintain him overnight.
‘The sooner we get [the cure] the sooner Riley can learn to run and play with his brother and cousins again,’ Janis said. Pictured above are Riley, Erin and Mason in April last year
Riley can no longer use his arms or legs but his muscle spasms keep him moving constantly. His grandmother said the only time he is still is when he is asleep. He is pictured here with his mother, Erin, in August 2016
Janis said that she, Erin and a mother from Australia who has a child with PKAN started a support group for family members who take care of loved ones with the disease. Erin is pictured here cradling Riley’s head last summer
Riley is on a slew of medications, some of which are for pain management. Others, such as Artane, are for dystonia.
Everything he consumes now he does so through a feeding tube because he cannot swallow anything anymore. He cannot move his arms or legs but he is constantly in motion because of the dystonia.
Janis said he still says a few words. Riley likes watching Mickey Mouse on TV and she said he’ll say the word ‘more’ when one episode is almost over.
Riley is a student in the special education program at the public school he attended, Sanborn Elementary School in Longmont.
Janis said that the school system tried to make Riley change schools at one point but she and Erin fought it. They wanted him to be able to stay in the school where people knew him well and did not view him simply as a disabled person.
Riley is no longer able to travel to the school but his special education teacher comes to him to give him lessons.
‘It’s something about Riley: the people who take care of him, they all come floating back to him,’ Janis said.
Additionally, occupational and speech therapists come to his home, where Janis and Erin both live, to work with him.
Janis said that she is cautiously optimistic about the cure that the Spoonbill Foundation, which the family is raising money for, is working on and that she does not think the family will have much more time with Riley.