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turner syndrome: what it feels like
sarah oostrom lives with the condition in which one of the x chromosomes is fully or partially missing.
sep 16 2020
5 minute read
sarah oostrom is the president of the turner syndrome society of canada.
courtesy of sarah oostrom
it was her swollen hands and feet that prompted doctors to order genetic testing when sarah oostrom was born. the results showed a diagnosis of turner syndrome (ts), a genetic condition in which one of the x chromosomes in a female is completely or partially missing, altering their development. ts, with affects one in 2500 canadian female births, can range in severity, and may include failure of the ovaries to develop, heart defects, and shortness in height.
although the exact cause of ts is unknown, according to the u.s. national human genome research institute , the deletion of an x-chromosome is thought to occur randomly during the formation of the egg or sperm. it is not believed to be a genetic condition that is “passed on” from the parents’ dna, such as cystic fibrosis or sickle cell anemia.
healthing.ca spoke to sarah oostrom, president of the turner syndrome society of canada, about what it means to live with ts.
this diagnosis must have been tough for your parents.
my parents were thrown a curveball. they had no idea what turner syndrome was or what they were in for. naturally, they had differing opinions on some things, which i won’t go into out of respect for them and as i was too young to know what was really going on. they did end up divorcing, but i have always felt supported by them, and my siblings and extended family.
i know my mom has expressed feelings of guilt and worry for my future. i think she felt she did something during her pregnancy to cause my ts, but i couldn’t really say too much more about that, it’s sort of her story to share. *editor’s note: there are currently no known actions that can cause this condition during pregnancy.
i don’t think they were more cautious with me or gave me any special treatment growing up. i was treated the same as my sister.
[to find out more information] we joined the ts society — which was formed the year i was born, amazingly enough. i started going to events when i was a preteen. i can’t properly express how much i have gotten out of the friendships i have formed through that organization.
how long does it typically take to be diagnosed?
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this widely varies. the actual diagnosis does not take long after genetic testing is done (karyotype). there are reasons a girl may not be diagnosed until later in life — but a suspicion of ts is usually triggered by falling off the normal growth chart for height, and not reaching puberty naturally in adolescence.
there is no cure for turner syndrome. what about treatments?
while there is no cure for turner syndrome, it’s treated mainly with growth hormone for young girls, and hormone replacement therapy (hrt) beginning in the teenage years through adulthood.
the hrt that i am on at the moment is estrogen, which is a transdermal patch. i am also taking progesterone, which is a tablet. this helps regulate my body as it should be doing naturally. estrogen also has positive effects on the cardiac system and essential for bone health.
how does turner syndrome affect your daily life?
i am small — only five feet. turner syndrome affects all women differently, and this answer will greatly vary from one girl to the next. some girls will need accommodations for learning disabilities in school or work, for example.
i work as a receptionist in my full-time day job. [ts only impacts my work] in taking time off for various medical appointments, which i am allotted time for anyway. i am lucky to say i am very normal functioning, which is typical for most women with ts. many hold down a job perfectly fine with minimal accommodations.
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infertility is devastating, and utterly heartbreaking. it makes me sad and angry most days. that being said, it is also a deeply personal journey for everyone affected by infertility. each individual may have a totally different experience with their infertility, even within a couple. in my experience, i’ve had time to come to terms with it. that doesn’t mean it’s easy, by any means. some days i have no idea what might set me off in a fit of sobs. i have deep empathy for those who are trying [to have a child] and don’t have answers, or who have lost a child that they wanted so desperately.
this was the hardest thing i’ve had to talk to my partner about. it’s easy to wonder if it is a dealbreaker for a relationship — will he reject me because i can’t bear children? is that important to him? luckily, most reasonable people will work this out with you and recognize that there are other ways to create a family.
i grew up knowing that there are so many children out there who are in need of a good home, so i’ve always liked the idea of adoption. in time, i am hoping to adopt with my boyfriend — so far he seems to be open to the idea.
i think this is where most misunderstandings about my condition comes from, like the specific mechanics — “so you get a period, but you can’t get pregnant?” yes, i have periods because of hormone replacement. i have a uterus, but i don’t have ovaries or eggs.
you are the president of the turner syndrome society of canada. what do think are the benefits to community groups that share the same experiences?
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i was driven to become active in the society because of my family’s relationship with the tssc throughout the years. we saw how events like the annual conference brought the community together in a social and supportive nature. the society is pivotal for new diagnoses, families who need direction and support from other ts families and building those lifelong relationships and bonds. there really is a sisterhood aspect to the turner syndrome community.
what is the most inappropriate thing that someone has said to you about your condition?
this is a really tough one. i’d say infertility is a very touchy subject, personally. also, i have heard of the assumption of mental/cognitive delay associated with ts — this is true in some cases, but not all.
on a lighter note, i will say that i don’t mind short jokes, and when they are usually said in a loving way, it’s all good. i refer to my condition as a medical condition, it is part of who i am but does not define me.
in the past i’ve been told, “you don’t look like you have anything wrong with you, are you sure you have ts?”
i take the time to educate people, and i have found most people are responsive to that and want to learn.
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