joubert syndrome: what it feels like
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scott maclellan is on the board for the joubert syndrome and related disorders foundation.
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growing up, scott maclellan was told that he may have cerebral palsy or ataxia. it wasn’t until he was in his 20s that an mri revealed a distinct molar-tooth shape located at the center of his brain – the telltale sign for joubert syndrome.
joubert syndrome is a rare genetic condition which is thought to affect one in 80,000 to 100,000 people. in individuals with joubert syndrome, the cerebellar vermis, a brain region which contributes to balance and coordination, is underdeveloped. (in some cases, this area of the brain may not develop at all.) the brain stem may also be impacted. these developmental differences form the shape of a molar tooth when viewed in an mri and is a common tool for diagnosing this condition.
symptoms vary, but most individuals with joubert syndrome have low muscle tone (hypotonia) as well as balance and coordination concerns. other signs and symptoms may include irregular eye movements, rapid breathing patterns and developmental delays. life expectancy for those with joubert syndrome depends on the extent to which the brain is affected and is still being studied.
we sat down with scott maclellan to talk about growing up with joubert syndrome, finding his passion for supporting individuals and families with the disorder, as well as some of the hidden benefits to a world gone virtual.
this interview has been edited for length and clarity.
what led you to being diagnosed with this joubert syndrome?
i was actually diagnosed at 26. we had just moved into ottawa from the country and got a new family doctor who had asked to go over some of my pediatric records. on a copy of an mri for when i was about probably 12 or 13 years old, joubert syndrome was noted, but it had never been followed up on. my doctor asked me if i’d ever heard about it, which i hadn’t, and sent me to go get tested. so, i met with the geneticists and about two months later it turned out i had the syndrome.
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typically, they can tell from what’s called a molar tooth sign in an mri. the cerebellum is formed differently, so on an mri it will look like a molar tooth. there are also 35 genes identified but i haven’t had a gene identified for myself yet.
was your diagnosis a surprise?
it was a little bit of a shock, but prior to that diagnosis [i had been told i had] either cerebral palsy or ataxia.
two years later i connected with the joubert syndrome and related disorders foundation. every two years they hold an international conference and it wasn’t really until that conference and meeting individuals and families physically that i started to get more of a sense of like, wow. i got a little more excited, a little more, i’ll say, passionate about it, seeing other people with similar needs to me.
were you frustrated about getting this diagnosis at 26?
not really, because, like i said before, it had always been cerebral palsy or something else. it was kind of odd because when i first heard of the syndrome, i had done some research on online, google, youtube, other social media, and most of the people i kept seeing with the syndrome were either very little, or at the very most probably 13 or 14 years old. so, it was kind of an odd feeling.
of course, one of the things that always tends to pop up on google with a medical search is life expectancy. i saw kids who were at most in their early teens; it was a little unnerving at first. it kind of put me off of wanting to be involved, up until maybe only about a few months before attending the first conference.
is there a treatment for joubert?
no, there’s no treatment for the genome itself but there are there are therapies and treatments to help certain aspects of it. most individuals, myself included, go for a yearly ultrasound and yearly bloodwork. there’s speech therapy and physical therapy as well when you’re younger. but there is no one big cure or treatment as of yet.
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what was it like growing up with this condition?
i didn’t know i had it until just prior to my 26th birthday — so i always thought it was cerebral palsy.
i grew up as normal as i could. i was in a mainstream school setting. of course, there were times where i had to be taken out for doctor’s appointments, and there were things because of my disability or health i couldn’t do. but i either adapted or my parents, teachers helped me. i attended camp merrywood – easter seals camp in the summer and met with other disabled people around my age. i also did an adaptive taekwondo class for many years and got up to my black belt.
i was bullied and ostracized above the age of 11 and that took me out of a lot of social settings for several years, but i kind of just found my own interest. i like writing; i went to college for script writing and i have my own blog right now. i always wanted to write my own comic book, so i got into things like that socially with friends starting in high school and then adapted to my own healthy disability as much as i could.
you are on the board for the joubert syndrome and related disorders foundation – what sorts of things do you focus on?
i’ve spoken at a few conferences, which went over very well and led to being asked to be on the board.
i’m a board member on the family support committee, which helps out family and individuals. what i’ve been doing since i started is just trying to find ways to include some of the other adults and older individuals with the syndrome. at the last few conferences, i’ve done discussion groups for the older teenagers and young adults that have gone over well. i’m in the process of collecting profiles on any adult with the syndrome who wants to turn one in, and hopefully that will be those will be posted over social media for everyone.
are there any sorts of special considerations you have to take in your daily life?
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i do have respiratory issues, so i’m always conscious of not really exerting myself too much. i have to be careful with balance and coordination; especially in the winter it’s hard to get out. so, i have a treadmill here at home i use for exercise, things like that. with my kidney and liver, there’s always a chance of something happening, so over time i’ve become one more conscious of what i eat, exercising, just asking for help if there’s anything i need.
i have issues sometimes with habitual learning, so i make lists. i have to do things a certain amount of times before it really clicks for me. so, things like that.
have you had any interactions with others who misunderstand your abilities due to your condition?
not really. i mean it’s less that people and misunderstand my ability, as they just never heard of the syndrome. i have had one or two negative comments, or comments that could be taken negatively, but i just shrug it off. it’s not anything.
how has life been through the pandemic for you?
there have been a few little rough times. but overall, it hasn’t been too bad. i have a laptop from my work, so i’m able to work from home and do my job. i’ve been involved in things like a book club or a group that’s called the ottawa comic jam for artists and writers – those have gone online with chat groups. i’ve actually been able to do more events than if they were in person because of travel issues, so it’s been pretty good.
there’s a public speaking group here in ottawa. i attended one of their events a few years ago and kind of keep tabs on what they do. they do breakfast events periodically and they’re usually on the other side of the city to me. i take accessible transit, so to be able to join it would take two hours to get there, and the events are usually on sunday morning. it’s so much easier just to register for the event and go on my computer.
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there is another rare disease conference called global genes that usually happens in california. since i’ve started on the jsrdf board i’ve always been invited to go down as a board member, but because of travel it would probably be way too far for me to go, probably too expensive, so i was able to do that as well as the end of summer.
read more about scott and his experiences over at his blog, the rare writer.
information about joubert syndrome and support networks are available at the joubert and related disorders foundation website. more information is also available at the u.s. national institute of neurological disorders.
emma jones is a multimedia editor with healthing. you can reach her at emjones@postmedia.com or on instagram and twitter @jonesyjourn.
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