A Halifax man says he no longer feels alone in dealing with a rare genetic condition, thanks to an unexpected text from Oklahoma.
Craig MacDonald has been living with AMACR deficiency — a neuromuscular disorder that is genetic — for the past 25 years. For all that time he’s been looking for others with the same diagnosis.
Tasha Hollander of Oklahoma had also been searching the globe for answers after her five-year-old son, Hudson, was diagnosed. She came upon MacDonald’s name.
An unexpected message
Lying in a hospital bed this September, MacDonald got a call from an Oklahoma number. He assumed it was a scam and didn’t answer.
Then a long text came from the same number. He saw AMACR.
“I only read to the first couple sentences and it said, ‘My son has been recently diagnosed with AMACR deficiency,’ and then I stopped,” MacDonald said on Monday’s Information Morning. MacDonald was joined on the phone by Hollander.
“I was just in disbelief, and then all these emotions came through.”
The symptoms vary between patients, but MacDonald said for him the main issue is severe muscle cramping and soreness. Anytime he does something too strenuous, his muscles seize up in “excruciating pain.”
The disorder is related to a mutation in the AMACR gene. MacDonald has heard of other patients dealing with migraines, seizures or the muscle soreness he experiences, although that’s less common.
MacDonald said he’d always wanted to speak with fellow patients to ask them questions that no one else would understand, or offer help and advice himself.
Although Hollander said Hudson had been experiencing seizures, motor and vocal tics for years, he was only diagnosed with AMACR deficiency last summer.
She initially had no idea what the diagnosis would mean for the rest of Hudson’s life, Hollander said. Their doctor had told them simply “we don’t know.”
This launched Hollander’s search for answers, and she found online groups involving people with similar rare disorders like the Global Foundation for Peroxisomal Disorders. She soon found MacDonald’s sister, and learned about Craig’s life.
Hollander saw news coverage of the Craig Mac Comfort Initiative, a fund MacDonald launched to help patients at the QEII Health Sciences Centre.
“When I saw him on the television clip I broke down and sobbed because he was so, so smart and so healthy,” Hollander said.
“I cried … just seeing his age and he was thriving and doing well. And, yes, he has his struggles, you could see — and his story, it’s not been easy for him, but it’s been manageable.”
When MacDonald called her back after that text, Hollander said he felt like “family instantly.”
They have kept in touch since, and Hollander regularly sends along updates on Hudson’s medical appointments in various states or the new colic acid treatment he’s trying.
As of September, MacDonald said in a post that there were only two confirmed cases of AMACR anywhere in the world in children, and Hudson was, at that time, the youngest ever to be diagnosed with the condition.
Having a cross-border connection and the perspectives from two countries on medical options has already been really helpful, MacDonald said.
At the end of their conversation, Hollander told MacDonald how thankful she was to have found him.
“I know we will meet, and I know we’ll have this connection for forever,” MacDonald said.
“I’m so grateful that you did keep pushing to get to that text.”