Logan MacDonald is a Speech-Language Pathologist at Lansdowne Children’s Centre, which serves a variety of infants, children and teens with additional needs. Some of the organization’s clients are medically fragile and/ or have been diagnosed with rare diseases. For Rare Disease Day 2025, Logan shared her family’s story.
Logan MacDonald and her husband, Pat MacDonald, knew something was amiss with their daughter Blake, now three years old.
“From eight months old, she started puking every day; once a day, every day,” Logan said.
The healthcare professionals they consulted all said it was likely Blake would grow out of it, and to just wait.
“She was hitting all of her milestones for development, so nobody was concerned whatsoever. But I still had that feeling … this just isn’t right,” Logan said.
Once Blake turned two – which was the age to indicate that she likely wouldn’t grow out of whatever was happening – her parents got her an appointment with an allergist in mid-2023.
“He didn’t know what was going on, but he noticed her belly was a little bit distended, and he was hearing my concern … he really pushed for tests for us,” Logan said.
Blake was referred to a pediatrician at McMaster Children’s Hospital, and more testing got underway: ultrasounds, X-rays and a lot of bloodwork.
“Nobody knew where to go, so it was just a matter of getting a whole bunch of tests and trying to find something that we can go off of, of where to go next,” Logan said.
An ultrasound revealed that Blake’s spleen was very enlarged, some bloodwork showed her iron and ferritin levels were low, and a bone marrow test suggested a genetic disorder.
Finally, at the end of March 2024, they got a diagnosis: Gaucher disease.
The prevalence of Gaucher disease in Canada is estimated to be 1 in 100,000 people. link
Logan said neither she nor her husband had ever heard of it before; since it was genetic, they got tested, and found that they were both carriers.
A lot of people aren’t diagnosed with Gaucher disease until they’re adults, which is why “this wasn’t on anyone’s radar.”
At the moment, Blake is presenting with the type 1 version of the disease, which largely impacts a person’s bones, but that could change when she hits puberty.
“We could see neurological effects,” which are more associated with type 3 of the disease, Logan said. “We just don’t know.”
It’s hard to sit in the space of the unknown, because “there’s nothing you can do. It’s a genetic thing; there’s no preventing (it). If it’s going to happen, it’s going to happen.”
That’s not to suggest they don’t do everything they can when it comes to supporting and advocating for Blake.
“When you have a gut feeling, intuition, all of that – don’t stop looking for an answer until that goes away,”
Logan said, adding that they’ve had to persevere despite pushback from some within the medical community.
It’s also important to keep detailed notes of appointments, tests, results, etc., because unfortunately, the healthcare providers you connect with might not be overly familiar with your file.
“They don’t have the time to read everybody’s chart in detail.”
The frustrating reality is, the healthcare system “is really hard to work in sometimes,” Logan said; there are gaps in healthcare workers’ knowledge, delays in testing or treatments, or mistakes that mean sometimes painful or time sensitive tests must be redone. All of this can result in negative experiences for patients and their families.
But that’s why while it’s incredibly hard, Logan urges forgiveness.
“If you just let those things eat you up … it makes it even harder,” she said.
Offering forgiveness doesn’t mean ignoring things that need improvement; Logan will flag issues with healthcare workers head on, so hopefully it doesn’t happen again with a different patient.
She’s also willing to take the time to educate others.
“With rare diseases, you get to a point where … you know more than the doctors know.”
Logan has made a point of going back to the nurses, doctors, etc. they connected with earlier on, to inform them about Gaucher disease, so if they come across the same symptoms again, hopefully they’ll test for it, “even just to rule it out.”
Logan reminded caregivers that while you’re forgiving others, you need to give yourself grace, too.
“You’re doing the best that you can with everything you’re given,” Logan said. If you miss something or make a mistake, “Forgive yourself, learn from it, and move forward.”
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