living with friedreich’s ataxia: the loneliness of losing control
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"we've tried to normalize things as best as possible," said sakina, left, mother of yasin, bottom centre, who lives with friedreich's ataxia.
sakina rehmanji
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when sakina rehmanji’s youngest son, yasin, was born, he was considered a “normal child.” it wasn’t until he got a little bit older and started to explore the world around him that things began to shift.
yasin would drag his leg while he was learning to walk, a subtle but significant sign that something may be wrong. sakina and her husband took yasin to doctors throughout the first five years of his life looking for answers, but their concerns were continually brushed off. eventually, they were told that he had scoliosis and needed to wear a back brace.
“we thought, okay. this is going to be kind of the end of it,” she said. “because prior to that, we spent almost two years trying to get answers.”
even with the back brace, something was off with yasin. his parents noticed that he was a little clumsier than typical, which sent off alarm bells in their heads that maybe scoliosis wasn’t the end of their investigations after all. yasin was misdiagnosed with charcot marie tooth (cmt) disease, but sakina didn’t see any of the hallmark signs of cmt in her son. after extensive research, she went back to the drawing board and back to yasin’s doctor.
“we went back to the doctor and said, ‘this is the diagnosis you’ve provided, but these things don’t really counter with what you know that condition is and what he’s presenting,’” she said.
the doctor agreed to continue the investigations for yasin. eventually, they came to a formal and accurate diagnosis of friedreich’s ataxia (fa), a rare progressive neurodegenerative disease that causes impaired muscle control due to nervous system damage.
it took a while for sakina and her husband to accept the diagnosis because yasin had been misdiagnosed before, so they walked away again with the drive to do their own research.
“it took a year before we actually came to terms with it. we actually even took him to the (united) states and had him retested because … you kind of start to feel like you don’t trust the system anymore,” she said.
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telling your child that he has a progressive, disabling disease
yasin was seven years old by the time sakina and her husband came to terms with his diagnosis. at that age, children aren’t as likely to understand what it means to have a progressive disease and how it will affect the rest of their lives.
when it came down to it, yasin wasn’t confused or angry about the diagnosis. he had experienced the symptoms for so long and, in some cases, blamed himself for not being able to do things like other kids.
“when we told him, it was like, ‘okay, so that at least explains why i do the things i do, or you know, i’m trying so hard, and i’m still not getting this way or that way,’” said sakina. “it was almost like a relief for him.”
yasin was finally able to let go of the pressure to perform activities in a way that he just couldn’t, and that lifted a heavy weight off his shoulders.
growing up with friedreich’s ataxia
when yasin was young, the symptoms didn’t negatively affect his ability to participate in a normal childhood. however, as the disease progressed, his abilities declined.
before the disease took its hold, yasin could run around and play with friends just like any other child. but he was eventually forced to use a walker, isolating him from his peers. the need for a walker turned into a wheelchair, which he is now confined to at 21 years old.
having a progressive disease as a child can be lonely. as yasin got older and became more and more unable to do things that his peers were engaging in, it affected him significantly.
today, yasin no longer has any independence.
“he can’t really do anything on his own anymore,” said sakina.
dexterity issues are a significant consequence of friedreich’s ataxia, so yasin can no longer do a lot of things he used to be able to do, such as write, eat, or go to the bathroom himself. hobbies that yasin enjoyed, including video games, video chatting with friends, and watching movies, have all but been taken away from him as well in recent years due to vision loss, slurred speech, and issues with being able to hold objects.
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these losses have taken a heavy toll on yasin.
“he used to be a very happy-go-lucky kid growing up,” said sakina. “we’ve tried to normalize things as best as possible.”
sakina notes that it can be highly frustrating for yasin, especially because his mind is not affected by the disease. he is still bright and cognitively aware of everything. it’s just his body that experiences symptoms.
she also notes that people need to understand more about how isolating it can be for yasin and that he still wants to belong, even if that looks different for him than it does for people without a disabling disease.
“they just want understanding, not even empathy per se. they just want understanding. they want companionship. they want friendship,” she said, later continuing, “the biggest thing is the social aspect, and he doesn’t want to be alone. he just wants those friendships.”
living with an incurable disease with hope on the horizon
friedreich’s ataxia is an incurable disease, and for many years while yasin was growing up there weren’t any treatments available that could slow the progression of the disease or prevent nervous system damage.
he partook in various therapies, including physical therapy and talk therapy, to help him stay as active as possible and ensure his mental health was still being cared for. still, when it came to actually tackling the symptoms and degeneration of fa, yasin had no avenue.
as new potential therapies became available, yasin would get to try them if he qualified for the studies, and over the years, sakina notes that he has had “many different trial drugs,” none of which made any remarkable difference in his disease.
health canada recently approved skyclarys, the first treatment of its kind. the drug targets the underlying mechanisms of friedreich’s ataxia, and according to trials, the drug can help to slow down the progression of the disease, which provides hope for parents of children living with friedreich’s ataxia and people who have it themselves.
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“skyclarys is, of course, his choice, but i think every time that he has done a trial, it’s always been hopeful for him and it just brings that hope,” sakina said. “i think if he was able to get skyclarys … it would bring back some hope.”
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