All About my disability: Chromosome 18 (and other disabilities that everyone else in the world has)

By: Talia

All About my disability: Chromosome 18 (and other disabilities that everyone else in the world has)

I have this disability called 18q deletion (18q-), and it basically means that I’m missing a part of the long arm on my eighteenth chromosome in DNA. I am mosaic which means that some of the long arms on my 18th chromosome are complete. 40% are actually fully intact.

A chromosome is a narrow structure of nucleic acids and proteins found in the nucleus of most living cells living in someone’s body, carrying genetic information in the form of genes. The kinds of chromosome 18 deletions are 18q- (sometimes called De Grouchy syndrome), which was first described in 1964 and 18p- which happens when part of the small arm of one of the two copies of Chromosome 18 is missing. This means there is one copy instead of two for each of the genes in the deleted region of the chromosome.

Tetrasomy 18p- occurs when there is an extra chromosome that is made up of two copies of the small arm of chromosome 18 (the P arm), instead of having two copies of the P arm of chromosome 18, people with Tetrasomy 18p have four copies. Trisomy 18 also known as Edwards syndrome (it occurs when there are three copies of chromosome 18 in every cell of the body. Typically, humans have two copies of chromosome 18, sometimes, a baby will inherit an extra chromosome 18 from a parent. Therefore, the baby has three copies of chromosome 18 rather than two copies.

Other types of syndromes and medical conditions include: Down syndrome (Trisomy 21), Fragile X syndrome, Klinefelter syndrome, Triple X syndrome, Turner syndrome, Trisomy 13, Alzheimer’s disease, arthritis, autism spectrum disorder (ASD), cancer, coronary artery disease (CAD), diabetes types 1 and 2, migrane headaches, spina bifida, isolated congenital heart defects (ICHD), cystic fibrosis (CF), deafness that’s present at birth (congenital), Duchenne muscular dystrophy (DMD), familial hypercholesterolemia (FH), hemocromatosis (iron overload), neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), sickle cell disease, Tay-Sachs disease, AA amyloidosis, Adrenoleukodystrophy (ALD), Ehlers-Danlos syndrome, mitrochondrial diseases, usher syndrome and many more.

My syndrome has affected me physically through lots of surgeries on my hips, ankles, feet, legs, bone anchored hearing aids, falling/breaking my leg and (not 18q- related) my wisdom teeth. I know how hard it is to handle with what I’m living with and how my body feels. It has affected me socially —  but in a good way — through meeting new people, spending time with people, spending time with my dogs Lloyd (by the way he’s my emotional support/service animal even though technically he’s not allowed in certain places except for placed like Positive Exposure) and Millie, going on Zoom for my mental health therapy appointments with my therapist every Tuesday and Thursday, working at Positive Exposure, creating content on my social medias, taking online classes on Coursera, Khan Academy, CMSV Alumni online classes, books, taking American Sign Language, going to social events and living the dream of living in the city that never sleeps.

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