After years and years of me being labled as having" multiple congential anolomolies" with a chromosome abnormality I finally found out about 4 or 5 years ago that I have a reconized medical syndrome called 18q- syndrome. What this means is that I am missing some information, from the long arm (Q) of chromosome 18. To see what this deletion looks like click here What this means for me in real life, is that, I am hard of hearing due to aural atresia and stenoisis.(instead of ear canals I have a wall of bone and inside I have very very narrow canals) I also have absent eardrums, and the bones of my inner ear are fused together. All of these issues result in a mild/moderate low frequncy hearing loss I have low muscle tone and am very flexiable and "floppy" like a rag doll (can do most things but I have a lot of trouble with fine motor skills) I was born with a foot problem (I had to wear casts to bed at night and wore inserts in my sneakers until I was ten when I had an operation ) and an umbillical hernia. I have trouble with social skills b/c of being young for my age. I have a history of seizures (haven't had one since 8th grade, as they are controled by Dilantin) and of hyperthyroidism. In addition I have, some very mild dysmorphic features, such as hypertelorism (eyes too close together) and long tapering digits(fingers and toes) I also have very small feet. The deletion was discovered, when I was a little over a year old, due to the hypotonia. My doctors thought I had muscluar dystrophy, b/c I was so floppy. Instead they discovered the deletion. I was STILL an enginma however, b/c a lot of the literature on 18q- is extremely negative, and very outdated. The worst case scenerio that a lot of parents get from the geneticist is that their kid is going to be so profoundly cognitivly delayed that they will be in a persisant vegetaive state.Even parents who don't get this description, will be told that the best they can hope for, is that their kid will be severely delayed. So, since I had (and have) no cognitive delays whatsoever, my doctors were reclutant to pin the blame for my issues on the deletion. They said that my issues were not the result of the deletion, but were just random things. So my parents and I were unprepared for the fact that I'd face issues like hearing loss due to absent ear canals (discovered when I was 3) seizures, and hyperthyroidism. When I was 16, I had an appointment to see my geneticist. I thought it was going to be another boring appointment, just like all the others.(meaning VERY boring) Instead I found out that my doctors had finally decided that I DO have 18q- syndrome. My geneticist also told my parents and I about the Chromosome 18 Research and Registry Society, an organization founded by Jannine Cody, whose daughter also has 18q-. My parents and I have been members ever since. I have found out so much by being a part of the Registry. I even got to go to the conference in Texas last summer and met another college student who also has 18q-. I was even in the newspaper there! Click here to read the article.

I am living proof that a mistake in cellular comunication is not nesscessrly a barrier in life! I am a regular person, I simply happen to have more medical issues then the average person does. I am not a freak or a monster simply because I have medical problems. If you are looking for infomation on 18q- or a related syndrome(such as 18p-) please go to this link. It is a message board I have set up for chromosome 18 disorders, and it has tons of great links! My message board
Morgan's Page,a little boy with 18q+ syndrome