Mosaic Down Syndrome Diagnosis at 23 Years Old
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- Опубликовано: 8 сен 2023
- I keep saying "ligament laxicity" but its "ligament laxity" haha, my apologies! I am always open to answering questions on my tiktok! @ashleyzambelli
#mosaicdownsyndrome #downsyndrome #momwithdownsyndrome #downsyndromeawareness #trisomy21 #mosaictrisomy21
I am an MD, I teach medical students and residents. Frequently I refer them to RUclips videos posted by people with rare conditions. This just became one of them. Thank you. It is first year medical school material, all doctors are required to know it (in much more depth than this of course), but the chance to see someone with it, and hear them speak about it, makes it much more real.
I don’t know why this video is getting recommended but it is and I learned something new
I had a teacher who said he was diagnosed with trisomy 21 as a fetus but then when he was born he was “normal” and he didn’t experience any limitations that he could pinpoint so they thought they got it wrong. Looking back this is probably what he had.
Now well into my 60s I recall as a child the people with Down Syndrome seemed more numerous, I’m guessing that this is because ultrasounds were rare and they got to be born. As a child I had a neighbourhood friend with this condition and he was part of the neighbour gang of boys. The other boys and I knew he was a little different but we included him in our lives and were ferociously protective of him. We all had a richer childhood for it.
I’m a retired pediatric social worker. I had never heard of this and feel privileged to hear about it from a living breathing person who has it. You are gifted in communicating this information and you are really beautiful and inspiring, too. I am fascinated by your story and want to learn more.
I’ve been an RN for 40 years and I never heard of three types of Down’s syndrome! Thank you for sharing your story. Bless you and your sweet children. ❤❤
My highschool biology teacher taught us about Mosaic Down Syndrome, mosaic conditions are surprisingly common. While Mosaic Trisomy 21 is rare, it could actually be higher due to how rare it is to diagnose it.
It is weird when you have a mild form of a condition that usually has a visible indicator. I'm 5'8''. To look at me, you'd never guess that one of my vertebra doesn't close all the way. Even though it's just a hairline, I have a Spinal Bifida. Yet when you add it to all my other spinal problems and learning disabilities and myriad of other health issues and throin the recent diagnosis of an MTHF-R Gene mutation, the whole picture starts to come into focus. But I still had one doctor laugh in my face when I tolder her about the Spinal Bifida, until she looked up the Xrays and tried to back track.
It’s horrible to say, but it’s probably best that you weren’t properly diagnosed in childhood; while I’m sure it would’ve been good to have that extra help at times, you probably would’ve have “limits” put on you as a kid!
I learn new things every day. I didn't know it was possible to have Down's syndrome and have no outward signs of it. Thanks for putting this video out. You sound like a very intelligent and determined woman. Your children are lucky to have you.
Hello from Canada i have four children my youngest a boy who is now 24 was born with mosaic down syndrome, hirschsprung's disease and vsd , i love him so much he is the love of my life all the rest of my kids have grown up have had children of their own, now it's just him and me and it is now a quiet life filled with love and laughter.
I didn't know there were more than one kind of Down Syndrome. Thank you for educating us about this.
I am 74 yrs old and had a beautiful little Down’s Sister who was 10 yrs younger. Our entire family…. Including her 3 “normal” siblings, our parents, and all the people we married, as well as extended family considered her a a “Total blessing “ in our lives and miss her greatly now that she’s gone. God bless you and your wonderful family.
There is actually a 4th type and my son was diagnosed with it 29 years ago at the University of Utah through their genetics counseling dept.
oh yes, there’s a lot of mosaicism of diseases that the public doesn’t know about. I had a classmate in medical school that had Turner syndrome Mosaism. She spoke to the whole class about it one time, it was my first education in the condition. Thanks for sharing❤
Mosaic conditions are really fascinating, frustrating to get disgnosed (if they are symptomatic or if it's something being passed on to kids) and also not a thing a lot of people know about. Thanks for sharing your story!
I'm Deaf. Bookmarking this and hoping I can come back down the road and see your story with captions! I've only heard of this one other time, but usually only with medical definitions and no personal perspectives. As an advocate for PWD, I've met quite a few who have 'uncommon' experiences or are diagnosed later in life, and a lot of people don't have access to this kind of information! Thank you for sharing! I hope I can come back later and have access to a non-clinical, personal experience like yours! ❤
Wow! I am in my late 20's and wanted to share my story with you. When I was born, I was slow to meet developmental milestones, and my pediatrician told my parents that these clusters of symptoms (he mentioned my eye shape as well) made him decide to refer my parents to a specialist, and suggested that get me tested for Mosaicism. My parents only had a narrow understand of Down's Syndrome and did not get me looked at further because I don't look exactly like other forms of Down's Syndrome. I have so many of the same experiences you have, for example I have low muscle tone, emotional dysregulation, floppy ligaments, and POTS (you mentioned your tachycardia). I am living with adult ADHD and Dyspraxia, but I am wondering if this pediatrician was correct - That I may be living with trisomy 21 just like you. Thank you so much for sharing.
Thanks for sharing Ashley. We had recently found out that our 4 month baby has mosaic down syndrome and it was rather difficult for the health professionals to pick it up. It was generally dismissed as most characteristics were not present.
As a mental health clinician.. I am convinced that mosaic CHROMOSOME disorders are severely under diagnosed . With these disorders, there can be up to a 40% to 60 % risk of severe mental health disorders . There are many mental health patients who fit the profile . If you understand the symptoms and problems associated with mosaic CHROMOSOME disorders... then you know . There needs to be more options for genetic testing, support, and protective laws . Thank you for sharing your story !