Mosaic Down Syndrome Diagnosis at 23 Years Old

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

[@FernandoChaves]

I am an MD, I teach medical students and residents. Frequently I refer them to KZbin 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.

[@TiredCapybara]

I'd love to know more of your recommendations if you have any!

[@FernandoChaves]

@@TiredCapybara Recommendations for what?

[@thephotographicelements1444]

@@FernandoChavesfor more in depth clips like this on rare diagnosis’s

[@motionless_horizon]

@@TiredCapybaracheck out Amy’s Life or Chronically Amy here on yt. She passed away a few years back, but she had Ehlers Danlos Syndrome and it eventually lead to her death. It shut down her GI tract entirely and she ended up with heart failure. Her videos are the only reason I knew something was wrong with me, and I finally had the language to talk to my doctors and explain my symptoms. I went undiagnosed for 14 years. Her videos made me realize that I wasn’t crazy, it wasn’t in my head. I was and am sick, and I will be for the rest of my life. I was born with it but my doctors always said it was in my head, in reality, it was in my genes haha

[@FernandoChaves]

@@thephotographicelements1444 I can also give some links to individuals talking about what it is like to have certain diseases or disorders. I don't consider that "in depth" but it is a chance to see them and hear from them when one otherwise might never see such a thing. Things like ALS, CAIS, Huntington's, Methemoglobinemia, Klinefelter's, Turner's Syndrome, and more. You can also just search KZbin for such things. Special Books by Special Kids is a great channel for such things. I would highly recommend that channel if you are curious.

[@LeeDee5]

I don’t know why this video is getting recommended but it is and I learned something new

[@ashleyzambelli]

I don’t know either! 😂 I posted this 6 months ago and in the past week it’s got over 90k new views. Not sure why it’s suddenly being pushed out now after so long but hey 🤷🏻‍♀️ I’m not complaining! 😂❤

[@calliea3336]

@@ashleyzambelli A few minutes before I was recommended this, I was shown a cake decorating short with a Reddit post as the narration. It was about a woman whose husband left her when their unborn child was diagnosed with T21, then got another woman pregnant, but to everyone’s surprise, the first woman’s child did not appear to have T21 at birth, but the second woman’s baby did. I’m guessing the cake decorating video was interpreted by the algorithm as both a cake video and a T21 diagnosis story video, leading this video to be recommended to me shortly after. I wonder if anyone else is here from that same short? I just checked my history to see who it was by, and the username is @rolledupreddit

[@signsoflifeatCSHL]

@@ashleyzambelli Maybe the KZbin algorithm is gearing up for World Down Syndrome Day on Thursday 3/21? I'm a geneticist I thank you for the beautiful way in which you are educating others.

[@paulstejskal]

I’m here because of the algorithm too.

[@paulstejskal]

And I got to say I’ve never heard of it before. Thank you for sharing.

[@mitseraffej5812]

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. Unfortunately he didn’t live long due to a congenital heart condition that was I believe related to the Down Syndrome. To this day I still smile when I recall his friendship.

[@physics4290]

Prenatal diagnosis in the US results in about 66% of Down Syndrome pregnancies being terminated here. The percentage is much higher in some European countries. The number of people with Down Syndrome would triple without prenatal diagnosis, and I doubt funding for the services they need and deserve would triple if it stopped. There is a lot of diversity in the health of fetuses with Down Syndrome. My cousin lived to be 67 and had a loving family and fulfilling, mostly healthy, life. But many fetuses with Down Syndrome have severe heart defects. Many of these are spontaneously aborted. There is also a wide range of intellectual ability.

[@edithtierce8209]

You mean around the time when they weren’t forcing people into giving their children to state hospitals to be medically experimented on? That’s why it seemed like there were so many. And now less. First they were hidden away and now they are aborted. My grandmother told me she and my grandpa were basically threatened with being committed themselves because they insisted they wanted to KEEP my aunt and raise her still after she was born and it was realized she had DS… Literally threatened to commit them if they kept her. They really wanted disabled people to experiment on.

[@yepiratesworkshop7997]

You guys were good kids. I wish we had gazillions more people like you on this planet.

[@mitseraffej5812]

@@physics4290 It sure will be interesting to see if the barking mad Christian fundamentalists that control many states and imposing abortion bans, will be willing to dig into their own pockets and come up with said funding.

[@stephanielane1821]

Glad that back then there was no ultrasound, imagine all the wonderful human beings that didn't have a life 😢 even if they had a short life, in the case of the person you knew, not all die young, and these people are a blessing for this world. Loving, beautiful and very special pure soul's.

[@imagummybearr]

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.

[@John_Lete]

There are many cases that the professionals were wrong about what was thought to be. Unless the body is effected that it is physically challenging, it is always better to not accept what others say, since humans do make mistakes, even though they have the lable as professional. Not here to say it is the case in all cases, though there have been many cases where someone was told one thing but ended up not being so but the mind hearing something like "you have this dieses", the brain automatically tends to already start sending signals to the body that something is wrong and them the brain continually sends the body messages that do end up causing whatever the mind tells it. There have been many cases done to show that by the mind which keeps feeding the body the "I am sick" message, then the body does get sick exactly with what the mind told it, even just a plain cold message can overpower the body to in turn be as the mind told it. If that makes sense. There are many parents whom have been told that their child would be born with such and such and that they should abortthepregnancy cause the child would never make it past a certain age, though the parents not going forward with what was told had the baby and the child got to live a life of old age and with no complications....this has been the case multiple times, beyond count and all across the world...then sadly there are many parents whom give in to the fear and do abort and sadly find out when it is too late that the child never had what was thought to be the case but of course sadly it was too late. Fear sure is something that the mind can cause muchdamage to the body simply by the signals of current that the mind sends the body...and once again am sad to say that many folks find out that it is the case when it is too late and the lateness could have been avoided simply by having a little faith, especially since the body was created in such a way that many professionals up to date still can not explain how the miracles take place..but sadly many professionals dismiss the thought of the mind being able to do good for the body. Anyhow, just expressing an opinion, so do want you will but hope the message is received in good faith of encouragement that there is more to than what meets the eyes. 🤍

[@edithtierce8209]

They told my mother as well that I would have Down Syndrome… 35 years ago in April I was not born with Down Syndrome.

[@John_Lete]

Thank you for taking the time to share and sure hope that folks take it to heart, that there truly is more to life than what meets the eyes. Of course there are many examples of cases that parents are faced with real situations that are heartbreaking and face much throughout life, then there are many more cases that parents are lied to, in order for the professionals benefiting their own pockets and even worse at the expense of others well being. I had complications when I was born and the professionals wanted for my mom to give me up...I thank God she did not listen because I would of not been here today if she had and have been blessed with life, even though have faced trials along the way yet have been blessed with much that many never get to experience. God bless mothers and fathers whom care enough to stand up and say no to the world of so called professionals that can be so selfish and out to benefit themselves at the expense of others. Many in the world are put in situations of facing unimaginable situations in which decisions have to be made while being in most vulnerable state of mind , yet chose the decision to do what is good for another and give the option for having life, even though there are many who do end up facing a life of aches by the decision made to not give up their loved ones due to whatever it may have been, yet it is always better to at least be given the option to experience life, even if it may come with challenges. It is a rough world out there and many innocent folks are taken advantage of and as the times go by, it seems to be getting worse by the days that go by. There sure is more to this life than what meets the eyes. Yea, the sad truth is that many do face real challenging situations all across the world but what gets to me the most is when folks are taken advantage of, especially at the expense of their loved little ones whom have no voice yet, and even the elderly whom are in a state of mind that they can no longer think or speak for themselves and yet are put in places that the facilities have no compassion for them and treat them like nothing more than money making machines. Whether people want to know the truth or not, the truth is that there is more to life than what meets the eyes. Left to our own devises, we are a fallen world but to have faith means the difference between caring or not and sure hope more folks make the decision to have faith, cause there is more to life than what meets the eyes and many times it makes the difference in how one treats another. Anyhow, simply sharing what I felt should be shared, in hopes that at least one person out there, but the hope is that many out there can have faith and hope and to think outside of the box, while not giving in to the evils that be in the world whom care not for others. 🤍🕊️🤍

[@John_Lete]

Thank you for taking the time to share and sure hope that folks take it to heart, that there truly is more to life than what meets the eyes. Of course there are many examples of cases that parents are faced with real situations that are heartbreaking and face much throughout life, then there are many more cases that parents are lied to, in order for the professionals benefiting their own pockets and even worse at the expense of others well being. I had complications when I was born and the professionals wanted for my mom to give me up...I thank God she did not listen because I would of not been here today if she had and have been blessed with life, even though have faced trials along the way yet have been blessed with much that many never get to experience.

[@John_Lete]

God bless mothers and fathers whom care enough no matter what may be set upon themselves. Many in the world are put in situations of facing unimaginable decisions having to be made while being in most vulnerable state of mind and yet chose the decision for their loved ones to live, even though having to face a life of hurdles by not giving up their loved ones due to whatever it may have been. It is always better to give the chance for experiencing life, even if there are challenges.

[@moe9246]

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. ❤❤

[@MyBeautifulHealth]

It’s Down Syndrome, not Down’s.

[@Bee-ly4gx]

I have been a nurse since 1987 and on a personal level I have had a lot of contact with people that have Down syndrome. Yet I have also never heard of this.

[@mikehill3728]

I've also been a nurse and had to google this. @@Bee-ly4gx

[@MA-js5by]

You've probably never heard of it because it's a new label.

[@kathyhorner2576]

I am a retired NICU RN. You are very eloquent and I have learned so much from you. I remember from working days that there are over 100 types of Down Syndrome. Now 100++. I’ve heard of mosaic syndromes but not Down syndrome. I hope you have a smooth road ahead with as few bumps as can be. My 3rd son had Spina Bifida with a very rocky road and I know how emotional it was on our entire family. Bless you and your family

[@cathykrueger4899]

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.

[@Lisargarza]

Well said and I would also like to learn more about your story.

[@ForeverFalling153]

I found your story very interesting. You don't look like a person with down syndrome. But I went to high school about 50 years ago with and id cheerleading with a girl my mom said looked (and she was right) like a person with Down Syndrome. People with Down Syndrome can be very bright as this girl was. I don't know if she ever got diagnosed. If so I expect it would have come about through an experience like yours as I don't think anyone knew otherwise.

[@LaineyBug2020]

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.

[@Lily_of_the_Forest]

I’d like to have seen that doctor backtrack. Such arrogance! Always be open to know information, Drs.!

[@dorasmith7875]

Actually, very early in her development, some of the cells in the embryo that became this woman, divided abnormally. Some parts of Ashley's body, and from what she says, some parts of her brain, are perfectly normal, and others aren't. It sounds like some of her muscles function perfectly normal and others don't. There have been cases where children have different body tissues, some of which test as if their parents aren't theirs! More common is when people have some cells that contain a genetic mutation and others don't. There are definitely degrees of Down's syndrome, and also, it seems that early intervention makes a huge difference in how kids with that condition eventually function, but, Ashley does not have Down's syndrome. She has partial Down's syndrome that affects her sometimes in mild ways. It isn't the same thing. Evidently there is some sort of Down's syndrome community that considers it the same thing, but, it isn't. Ashley believes she has Down's syndrome, but, this is a clear example of the fact that intellectually normal people often can't reason logically or analytically. You've failed to perceive the clear difference!

[@LGrian]

I’m so sorry you had to deal with a doctor like that. It’s better than it was in the past, but doctors are still way to inclined to assume a patient is dumb, rather than entertain a rare diagnosis

[@feralbluee]

some doctors are complete schmucks. why in the hell would a doctor, who’s supposed to care about people, exhibit such horrible behavior? glad she at least admitted her “mistake”.

[@korinnahunter8008]

I too have mild spina bifida, only found out when I had an x-ray done at 21 recommended by a physiotherapist who suspected scoliosis. So the spina bifida was diagnosed at the same time. No one would have suspected it otherwise. The only other issues that I had was symptoms like MS, like 19 out of 20 symptoms, predominately a lot of body numbness, and unexplained weakness at times. I had multiple mris and ct scans and they ruled out MS but gave me a fibromyalgia diagnosis. Also autistic, diagnosed 7 years ago.

[@samgray49]

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.

[@denisegaur]

Same for my commonly not diagnosed genetic connective tissue disorder of Ehlers-Danlos Syndrome. Kudos to this young Mother!

[@miss1of2]

I think t

[@suewilkinson910]

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.

[@i.ehrenfest349]

I have known the opposite - two girls who looked completely Down’s syndrome but were intellectually normal

[@tammymead318]

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.

[@anikabaddeleyrollingbackwa7341]

Hi, there was a very interesting mystery diagnosis episode about a young girl with mosaic down syndrome. I was diagnosed with down syndrome as a baby and I have always been fascinated by mosaicism in medical conditions. Thank you for the video. I do have a disability myself I have cerebral palsy.

[@laurenturner3578]

My brother has regular Downs with Hirschsprungs as well along with a vsd. He's 19, the youngest of nine and deep the heart of my family. ❤

[@marynoonan6111]

That’s lovely ❤❤❤

[@beaulieuc8910]

oh no poor kid

[@FaizaFarah-pj4dz]

❤

[@SoCalJellybean]

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! Kids still get this now, in 2024, but back in our day, the ableism was rampant and people were even more ignorant than they are today! I was finally diagnosed with autism spectrum disorder after age 25, and I’m so grateful for that, because it just made EVERYTHING make sense, but I’m actually glad I didn’t get that diagnosis as a child, because I don’t know if I would be where I am now. Sending love and positivity to you and your beautiful family! ♥️♥️♥️

[@bunny_0288]

I agree with you. We are pretty sure my husband has a high functioning form of autism. His therapist thinks he does, but she cannot officially diagnose him. But I am so so glad he was never diagnosed. We know someone who was diagnosed as a kid and his parents put so many limits on him. My husband has his MBA, works in higher education, he's married, and he has made awesome friends in church, etc. I just know if he had been diagnosed as a kid in the 80's it would have hurt him. And at this point, we don't see a need to get a formal diagnosis at all. Hes in his 40's and is doing well in life. But it does help me to understand him better and why he has his little quirks lol

[@spnd2mch]

Very true

[@KimVerhaaff]

I kinda get what you are saying, but disagree. I was diagnosed autistic at age 47. I've always known I was different, but never knew why. My whole life I've felt like an alien living among humans. Only after my diagnosis I've found my tribe. And I always wondered what my life could have been like if I had known. To know I wasn't lazy, I wasn't weird. Why some things were so hard. Others so much easier. In seeking help, I got misdiagnosed a lot. And had to live with those diagnosis, and their stigmas. I grieve for the life that could have been. And pray and hope in time people will understand autism doesn't present in women as it does in men. And for the next generation of girls to be seen.

[@Jolinda11]

@@KimVerhaaff Yes this! I knew I was different & called myself an 'odd duck'. I'm at the late diagnosis stage where I have come to understand it's autism all the way down, like everything... almost like my brain is autistic lol. Now I'm venturing into a newfound freedom around stimming and allowing the masks to drop, even around close loved ones. There's a generation of people who went undiagnosed because "girls don't get autism" or the general gap in diagnosis of anyone except the extremes. I'm happy my children will be able to approach their neurospiciness without as much of the ableism we grew up in.

[@KimVerhaaff]

@@Jolinda11 Exactly. Knowing also helped me in being able to stop masking, and able to be my true self. It's been hard after so long. But it would have been harder not knowing. I am so glad to hear your girls will grow up knowing who they are, fully. Thank you for sharing that

[@sunnyquinn3888]

I didn't know there were more than one kind of Down Syndrome. Thank you for educating us about this.

[@Kati111965]

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. They used a skin punch test on the inside of his lower left forearm at the age of two and found that he has Mosaic “partial” trisomy 21. They found 14 of the 30 tested had a tiny little attachment on the 21st chromosome and said it’s definitely mosaic but the rare part of this diagnosis is where they added the word “partial.” This was because it is not a translocation, all other chromosomes were in tact and not missing any pieces. So the little tiny attachment to SOME of the chromosomes was just something extra. He is a happy and healthy 31 year old that loves life and people. He has physical characteristics of someone with Downs Syndrome. Thank you so much for sharing your story. I have suspected that I have mosaic Downs Syndrome as well … after the geneticist pointed out some of the physical characteristics that she could see on my face when we received test results. I should also mention that our geneticist knew of one other person at the time who has mosaic “partial” trisomy 21 who is an adult male in California.

[@ashleyzambelli]

Hi, I think it would be great for you to double check this with a geneticist present day. What you’re describing is Robertsonian Translocation (21,21) where the translocation is on the 21st chromosome and is mirrored, making it look like only a partial copy is there when it’s actually a whole extra copy.

[@ashleyzambelli]

But yes there is in fact mosaic translocation

[@physics4290]

The important thing about your son's diagnosis with mosaic partial trisomy 21 is that it is structural. You are not describing any numerical abnormalities, if I am understanding you correctly. It sounds like 16 cells in skin had a normal male karyotype with 46 chromosomes, and 14 cells had 46 chromosomes that included an unbalanced derivative of one #21 chromosome, with some extra material originating from the #21 long arm "attached". That wording makes me think it is attached to the short arm, but you didn't say that. That is indeed a very rare condition. One possibility is that your son has chimerism. The normal male line could have originated from a different zygote than the unbalanced line. They should have recommended parental blood chromosomes because of the possibility that the derivative #21 in his unbalanced line could be the result of a balanced parental translocation. For example, if one of the parents had a balanced translocation with one breakpoint in the #21 long arm and one breakpoint in an acrocentric short arm. That is different than the whole arm Robertsonian translocation. There are other possibilities to consider but it would help to have breakpoints of what they found. Duplications are theoretically possible, but we rarely see those causing Down syndrome. Something complicated could have happened. Your son could have started as a zygote with 47 chromosomes in which there was a 3:1 nondisjunction of a parental translocation. During embryonic development, the derivative chromosome could have been lost to form the normal line. Independent of that, a normal #21 could have been lost to form the pseudodiploid unbalanced line. That seems to violate Occam's razor, but there could be selection of cells that were diploid or pseudodiploid over the hyperdiploid line. If the percentage of mosaicism has not changed, it would be interesting to see if cytogenetic microarray from skin would delineate his imbalance more precisely and possibly show that more than one imbalance is present. It would be something to consider and schedule if your son ever has elective surgery planned anyway. Structural mosaicism, with two cell lines that are diploid and pseudodiploid, is extremely rare. I saw 4 cases out of 10,000. It wasn't possible to determine the mechanism at that time. Only one of the four involved a #21. Robertsonian whole arm translocations are by far the most common type of translocation that cause Down Syndrome, but other types of translocations can cause it as well. Basically, anything that is viable will be seen. Robertsonian translocations involve acrocentric chromosomes that have short arms with repetitive sequences that don't result in clinical symptoms when they are lost. So, the entire clinical effect is from the gain of a whole #21 long arm. Those patients are just like numerical Down Syndrome patients as far as their clinical findings are concerned. Most translocations that are not Robertsonian will result in two imbalances, both a partial trisomy of #21, and a partial deletion of the other chromosome involved. That will not result in a viable fetus most of the time. But in rare cases, it does. The partial #21 trisomy is more viable than Down's. But the partial deletion of the other chromosome that participates in the translocation is very deleterious unless it's just an acrocentric short arm. There is also isochromosome formation to consider, and those can undergo structural changes to make them more viable. Anything can be seen as a mosaic if it is viable. You see different abnormalities in products of conception than you do in the blood of viable newborns. There is a lot of trisomy 16 in products of conception. Those pregnancies never get very far along.

[@WalburgisLuppus]

Was the testing done at Stanford university in California?

[@montananerd8244]

UU genetics dept!!! Dr Opitz is retired now, possibly deceased, but he was one of the worlds best genetic testing guys, he diagnosed my sister & did my screening. He left Montana for Utah shortly thereafter. My sister had Mosaic Trisomy 13

[@MerilWoodly]

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.

[@pinkworld9384]

You should definitely get tested! Best Wishes!

[@Catlily5]

I have emotional dysregulation, am very flexible, have POTS and autism. The overlap is Interesting.

[@FFLapin]

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❤

[@martinravina6934]

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. All the best and when you find difficult people out there also remember that for some of us this information bits are gold nuggets. Keep it up!

[@jennymcmonahan5152]

Did you have a suspicion? Why you Did the testing? (Sorry, english isnt my mother tongue)

[@martinravina6934]

@@jennymcmonahan5152 we had suspicions since he was born but there where few characteristics present and since it was dismissed by the people who se babies on a daily basis... There were days you felt like it was more likely and others you would discard it, he has an impressive muscle tone, standing and balancing on my hand at 2 months of age. He was admitted in the hospital for an infection and one young medical professional asked my wife if she had any concerns about anything and she raised her suspicions again. She thought it was unlikely but decided it was worth getting a genetic exam to get to the bottom of it and turned out that my wife was right. We got a formal apology for being dismissed earlier (not that we needed one and no harm was done anyway) from the head of pediatric practice for our region who also said that in her experience the parents are 99% of the time right with their suspicions based on the time spent with the baby. If you are concerned I suggest you get a test and have a definitive result. If english is not ideal we can connect in Spanish, Portuguese, Italian and my wife also speaks french, happy to help where we can.

[@TricksterModeEngaged]

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!

[@Miawallce80]

Yes my friend has mosiac Turners syndrome and it wasn't detected until her late teens! She didn't do through puberty and was diagnosed with aspergers and that when the doctors looked into it ..... She's in her thirties now and has had 3 children (donated eggs) and is happily married. ❤

[@Gimpygladiator]

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! ❤ Edits: damn typos!

[@KrikitKaos]

Transcript up to the 3:18 mark: Although I didn’t know it at the time, my journey began back in 2019, when I was pregnant with my son, and um, I miscarried at around nine weeks, and had to get an emergency D&C done, and we had fetal tissue, genetic testing done, after the removal, and that came back saying that our son had Trisomy 21. So that was my first documented case of having a child with Down Syndrome. Then in 2020, we had our firstborn, who was diagnosed with Trisomy 21 when we were ten weeks pregnant with her, then we had our second born, who is typical, in 2021, and then 2023, this year, we actually just had her in April, when we were fourteen weeks pregnant with her, we found out she has Trisomy 21 as well. At that point in time, when we found out that our third daughter would have Down Syndrome, my OB was a little concerned, she didn’t think that this was pretty common and she was the one who opted to get me genetic testing. So I then attended genetic counselling, and there is where I spoke with a geneticist and the whole team, where they were expecting that I had Mosaic Down Syndrome. Which, I was really in disbelief, I was like there’s…there’s no way, um, but they ended up having me get a karyotype test done and a FISH test done, um, which is a test where they collect cells from your blood and they analyze that, um, to see if there is any chromosome abnormalities. For me, those both came up negative, saying that there were zero abnormalities, but they were still pretty convinced that I had Mosaic Down Syndrome, and this is because of my history with having some learning complications when I was younger, like reading comprehension, and then um, just some health issues of my own, like I have inappropriate sinus tachycardia with my heart, and um, I have really bad ligament laxicity, as well as low muscle tone, particularly with my legs. So that really pointed towards, you know, me having mosaicism, along with the history of my children. So they had me get a buccal smear test done, which, this was our last route, and that did come up saying that, three percent of the four hundred cells collected had that extra twenty-first chromosome.Ever since receiving my diagnosis, I’ve honestly just been trying to share it with anybody and everybody, that I can, um, cause it’s just…it’s fascinating. Not many people know about Mosaic Down Syndrome, and, I thought a lot of people did, um, you know when I had my firstborn daughter with Down Syndrome, and I was, you know, learning a whole bunch of stuff, getting into different communities, and I guess because of the communities I was involving myself in, I thought so many people knew about the three forms of Down Syndrome, you know, having Trisomy 21, Mosaic Down Syndrome, or Robertsonian Translocation, but, as I’m bringing this to my social media, I’m coming to find out, not many people do.

[@gypsygem9395]

Same here!

[@gypsygem9395]

​@@KrikitKaosthank you! That was helpful

[@lindarobish7775]

You can try watching the video in Google Slides and turn on the captions in Google Slides. It would take too long to explain it here. You can also use a dictation app on another device to “capture” and caption the audio. I worked with Deaf and hard of hearing students for almost 40 years, and we figured out some work arounds. There are some other apps some of my students used, but I can’t remember their names.

[@jameseames9289]

Hi! If you're using Chrome, did you know about the live captioning feature they have, which will give you captions for any video you watch through Chrome? You can click on the three dots on the top right of the window (under the X that you click to close the window), then hover over where it says the name of your profile, then another menu should come up with an option called 'Customise your Chrome', which you click on to go to your settings. On the left, click on where it says 'Accessibility', and then the first setting, at the top of the list, is 'Live Caption', which you can turn on, and it will come up as a window and give you live auto-generated captions for any video on any website, including if you have a Zoom call or other live video feeds! If you are on mobile or another browser, I know this won't help, but if you do ever want to watch a video with subtitles and you have access to a computer then it's a great option!

[@ebhs2202]

Mosaic occurs in about 2 percent of cases. Thank you for sharing, you are a beautiful, compassionate human!!

[@electrodynamicorb6548]

Compassionate human that kept breeding children with Down’s syndrome?

[@user-ij1zd1hs4z]

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.

[@satabzzz]

The same thing happened to me at 24, 19 and 18 weeks of pregnancy. I lost all three of them. I had two caryotype done, once on 20 cells and a second one on 100 cells and they both came back negative. They can only guess at that point that I have mosaic down syndrome that just don't come out in the results. This year's, I had IVF and tests were made on my embryos before implantation. On the 5 embryos that could be tested, one came out positive for trisomy 21, a second one came out positive for chromosome X trisomy, two were normal and one inconclusive. After 20 years since my first pregnancy, I am now the lucky solo mom of a wonderful, healthy and totally normal 5 months old little girl. After all these losts, it's the best gift life could give me. She's my ray of light.

[@ne1512blvd]

I did not know that a person could get diagnosed as an adult nor that anyone could ever go undiagnosed for it. I always thought they detected it 100% of the time at birth. My 18 yo daughter has a look to her that we have never been able to figure out. She has some other issues that we suspected were high functioning autism. She does have low muscle tone but has not really had too many health issues. We are white but she has sort of an "Asian" look to her. Her eyes are very almond shaped. My dad, when he was here, could not get enough of how cute she was and would say her eyes reminded him of a little alien (the way aliens are depicted with narrow almond eyes). Her ears are very small and she has a button nose. I actually started wondering about down syndrome recently looking at her pictures over the years and then I found an article about you. I wonder if we should seek genetic testing even if just to rule it out. I wish I could put a picture of her but I don't think I can do that here.

[@territorialamcape2726]

I obly know the term almond eyes from inbreeding amongst family members. I remember my dad telling me about almond eyes from the movie deliverance.

[@Fuerzaestudiante]

There are many syndromes, both genetic and due to external factors, for example: Vaccines. Another possibility is the Arnold Chiari malformation. Greetings from Montevideo Uruguay.

[@desratlinda8639]

I would definitely get her tested, or see if there's a way to test "down syndrome"

[@daisysummer514]

@@territorialamcape2726what? 🙄

[@cacti485]

@@territorialamcape2726 im not sure about that, but almond eyes are a common trait of downs syndrome

[@sunshinelizard1]

Ashley's graceful and authentic response to her diagnosis might also be something not so common amongst all populations. She's amazing in her grace, beauty and candor.

[@goldleave1633]

This randomly showed up on my home page and I learned so much! Thank you for this well done and thoughtful video.

[@cat-mum-Jules]

Yes that happened to me. I never knew you could have undiagnosed downs. I knew there were different types, but this is really interesting and I think it should be more widely out there. Just think how many people there are with undiagnosed conditions that if they knew would make life easier for them.

[@Jemawin]

And it happened to me as well. It was informative, and I’m so impressed with Ashley. I imagine she’s a wonderful parent.

[@Jesus_Saves_Believers]

It's not random.

[@goldleave1633]

@@Jesus_Saves_Believers That's true the KZbin algorithm brought it there!

[@Jesus_Saves_Believers]

@@goldleave1633Yep, the one that knows us all too well by what we search for.

[@Dorothyredshz]

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 !

[@elizabethcarrington5819]

You are a young, beautiful, well-spoken , intelligent woman who I’m guessing is also an amazing mother. Our only kid is 24 and he has Down Syndrome. He has avRobertsonian translocation. My genetic testing didn’t turn up anything . My husband turns out to have two 21 chromosomes stuck together and as a result, the only possible embryo we can produce will either fail in early fetal development and I’d have a miscarriage in first trimester (wich happened 4 times), or develop into a viable baby with DS. Genetic testing is very helpful in some cases of repeated pregnancy failures. We finally knew what had been going on with all our failed chances to start a family. Thank you for educating folks about mosaicism as it relates to DS. ❤

[@kaylasmusic]

I have Turner’s syndrome so I’m just like you :), im 22 now but I was diagnosed at age 7, mainly because I had stopped growing,.. so I had lots of tests done, plus an mri on my brain,.. however, my differences is that I am obviously not able to have any kids, which you still can,. i also had struggled as a small child with learning issues but now im in my 3rd year of university and doing very well!, and plan to go to grad school! :), learning “disabilities” do not make you any less capable than anyone

[@MusikGirl23]

I have mosaic Turner syndrome :) good luck with the rest of your studies! We are fighters!

[@Monica-gene1]

My ex husband cousins (2 of them) have Turners. One of them was able to have a beautiful daughter. I think she had a surrogate egg. The mom is very small and daughter is soooo tall. Both sisters are very very smart!

[@camiburchett9602]

Labels are not necessary. We are children of God. We are not our diagnoses...

[@SF-op5ix]

That rules!! I also struggled with learning difficulties and college was SO HARD but so worth it! Your future is bright.

[@SIC647]

Of course labels are important. Turner women are sterile and it is helpful for them to know why. They also have a higher risk of heart disease and several comorbid diseases. When doctors know people's diagnosis, the doctors can best help them.

[@SABRINA.ARMY.BTS.]

This sounds so much like a reportage about a family here in Germany where the mother also has 2 kids with Down Syndrome and she also found out as an adult that she has mosaic Down syndrome! She’s now around her mid fourties‘ with 5 kids and two of them have down syndrome

[@bingewatchforever1587]

Right. Watched it, too.

[@tigresmom5654]

I'm so sorry for the loss of your first baby. Glad that you were able to get answers though.

[@anneoconnor8741]

You are not normal! You are much prettier than most, more articulate and intelligent than most. What is normal? I guarantee that most people if they are honest do not know if they are "normal" and after thinking about it, just live their lives. I hope you enjoy your life, all lives are so important.

[@Teenywing]

Your comment tells me that your soul is uglier than most. It’s so offensive on so many levels. I thought about trying to explain it to you but I’m sure there is no point.

[@Pafemanti]

I work in the medical field and did not know about this! Thank you for sharing your story!

[@FernandoChaves]

What does "work in the medical field" mean? This is first year medical school material.

[@Pafemanti]

@@FernandoChaves I'm an interpreter in hospitals.

[@kittyfarmer9567]

Never heard of Mosaic and I have been an RN for44 yrs! Bless you and your family!

[@jrahn66]

Hi Ashley. How cool is this?! My daughter is 17 and she is the polar opposite of you. She has 3% typical cells and 97% trisomy 21. I find genetics so fascinating. Many times, those with mosaic DS do show some facial characteristics, albeit, not as pronounced as those with full blown DS. Good luck to you and your sweet little family.

[@sunkissG]

I was diagnosed 8 years ago with a Mitochondrial disease. For me it was the answer I needed. There’s no cure and very little treatment but research is being done. It was a little scary but mostly it was a relief. I find the joy in almost everything. Take care ❤️

[@sandywa3057]

When my son was diagnosed with autism they tested him for this as well. I looked it up today and from the different pictures, you don’t have any outward signs compared to the pictures I saw. I’m glad you had all the testing completed because I would have said get a second opinion. You are such a wonderful young lady for sharing your story, you are bringing to light what Mosaic Down Syndrome is. That takes so much courage, thank you. ❤🥰

[@HowievYT]

Thanks Ashley. That's generous of you opening up and telling us. I strongly believe we must value our genetic diversities. Variety and adaptability are strengths. You sound like a great mum.

[@SFayeLewis]

Yeah I am still kind of on the fence about telling some of my own family about my bipolar and other health diagnosis.

[@kathydykstra4113]

Thank you for sharing Ashley. The people that I know with mosaicism had always appeared to have Down syndrome but were extremely high functioning. I'm a mom of 2 AMAZING adults with Down syndrome. My second son Joel just turned 38. I also have two genetically typical sons. We adopted my daughter who turns 27 this month. She's such an amazing blessing, as are my other kids! I doubt many people know about the 2 less common forms of Down syndrome. When my son was a baby I was extremely active in the Doen syndrome community, but after moving found that other support groups were far less positive and more just support, but not in a positive way. I've never seen my kids as less than anyone else and have raised them with the same expectations and responsibilities as my other kids. Knowing that they had limitations at times, but also helping them with those and developing their strengths. As a result, I have 4 AMAZING adult kids! Joel and Mary while not having "normal" intelligence (but hey, what's normal? 😉) but are socially appropriate, active, happy, fun loving people who live rich and rewarding lives! My life is better because of them. In the past I ran a special needs agency for almost 20 years. I know many people with various special needs who have all touched my family and me in very special ways. Many are lifelong friends with families of their own. People with Down syndrome can accomplish anything they put their minds to. Society and their perceptions are what tend to limit them. Thanks for your bravery and spreading the word! I tried to get a movement going where people would try to make a friend with someone with Down syndrome, it failed miserably, but I think it's still a good idea. Lives on both sides of that relationship would b enriched! You live in a great era where social media can bring so much change. I'm old now, lol, but I know you're going to change the world for your kids as well so many others! Thanks for sharing!

[@elisaholland29]

I love that idea of a project encouraging people to get to know one person with Down syndrome.

[@SIC647]

On the street where I grew up, was a supported living home with 4 adults with Down's Syndrome. They were kind and happy people and I am glad I got to grow up around them. Your comment made me think of that.

[@amandamills6181]

I'm sharing this video, hoping it goes viral. I want people to hear your story & learn from it! Look up Special Books for Special Kids. If he hasn't interviewed you yet, he needs to! Enjoy all those sweet kiddos of yours!

[@leannepaxton5012]

Yes! That is a fantastic idea. Doing an interview on Special Books for Special Kids would be an excellent way to reach a large number of viewers. Plus, he is just one of the nicest people, at least he comes across that way, and given what type of videos he makes, I can’t imagine that he is much different than how we see him in his videos.😊

[@rosaa658]

I’m 64 years old & I have never her of mosaic downs syndrome ! And I thank you 🙏🏿 for sharing this with us & please do me a big favor , don’t waste your time on ignorant people . And don’t even respond to their rude comments . I deal with fibromyalgia & had people say , no you don’t look sick are you sure ???? Get a fourth opinion & it upsets me terribly , because I have other health problems ! And unfortunately it more than 20 years for a Doctor 👨‍⚕️ to finally listen 👂 . I was so happy 😀 that I cried and I told him why , I was told I just wanted medicine to drug myself , that it was all in my head & I needed to see a psychiatrist , and the list goes on , and on ! I wished you the best to you & your family & please don’t listen to rude comments ! 🙏🏿❤️🎧☹️😡🤬

[@physics4290]

What a beautiful presentation! Thank-you for sharing your life experience! In my memory, mosaic Down Syndrome and translocation (Robertsonian) Down Syndrome, combined, accounted for about 5% of our patients diagnosed from blood chromosomes when I was a lab tech. I would say that the percentages were about equal, 2.5% each, but it is hard to measure because these conditions are so rare. These were patients who were referred for symptoms of Down Syndrome. In practice, we would only recommend blood chromosome studies from the parents of patients with a structural abnormality, including Robertsonian translocations. Basic laboratory procedures for chromosome analysis date back to 1960, and blood was used because it was less invasive than skin biopsy. FISH, which can be used on buccal swabs, was not used until the 1990's. I think people would worry about false positives with FISH being used in this way for screening purposes. It's possible that other molecular methods would be more quantitative. I know that comparative genomic hybridization is not good at detecting low level mosaicism. I don't know if the basic next-generation sequencing methods for NIPT (non-invasive prenatal testing) could somehow be adapted for this purpose. Currently, it uses cell free DNA from maternal blood with a gestation of at least 10 weeks, and it is a screening test for the fetus, not a diagnostic test. I don't know if the American College of Medical Genetics would ever recommend doing FISH on buccal swabs from all the parents of children with numerical Down syndrome. It might make sense to do an investigational study with sequencing methods on very young women, such as yourself. Regardless of whether a method can be developed that is reliable for detecting low levels of mosaicism, there will still be patients who go undetected because they have not retained any cells with +21 in their buccal tissue. Advanced maternal age explains most cases of numerical Downs, but we have always seen young women with Down syndrome pregnancies. The challenge is how to identify rare individuals such as yourself, who have very increased risk. I believe you are the product of something called "trisomy rescue", in which the extra chromosome 21 is lost early in fetal development, so that many critical tissues are spared. Your +21 was apparently retained in the gonadal tissue (that originates from mesoderm) that makes your egg cells. But it is undetectable in your blood, which also originates from the mesodermal layer. Buccal epithelium develops from the ectoderm, which is more representative of brain, but your percentage of positive cells (4%) is so low, I'm on the fence about whether it explains your clinical findings. It's possible. It is conceivable that a low level of +21 would have been detected in your blood if you had been tested as a newborn. In any event, it will never be possible to identify all parents who are at risk for a trisomy 21 pregnancy due to gonadal mosaicism, and this is why prenatal diagnosis is so important. You have given me a lot to think about!

[@rainydaywoman5758]

What a brave young woman you are. Most woman I think would freak out having all her children born w/down syndrome. God made you special." God Bless you and yours 🙏

[@rabiez_luvr6910]

I’m under the belief that if you aren’t prepared to have a child with down syndrome, you shouldn’t have kids. “It’s too much hard work” what? Do you think raising a child is just a walk in the park? Lol

[@leeannhibbard2749]

I'm a Special Education teacher. This is TOTALLY new to me. Thanks for sharing. I didn't know Mosaic and Translocation were even a thing.

[@KateMorganStyle]

I grew up next to Bjorklund House in Oak Forest, IL. We’re satisfied most Downs is bagging groceries or working a register if that’s had and Woodman’s Mart pays fairly but government programs and charity are apartment programs and most people can go to a library once a week and do independent study there.

[@MusikGirl23]

I have a sort of similar story, but I have mosaic Turner syndrome, which means some of my chromosomes are missing their second X chromosome. I wasn’t diagnosed until 22, although there were signs from my mom’s pregnancy with me onwards-her AFP levels were elevated which can be a sign of either neural tube defects OR Turner syndrome. I had various things as a child and young adult that should have clued the doctors in that something was different, most importantly my extremely small stature (I top out at 4’8, maybe 90 pounds soaking wet so to speak). I have some of the associated issues associated with Turner syndrome, most importantly the bicuspid aortic valve and aortic dilation. I had absolutely no problems academically but was socially awkward, and highly sensitive (cried at the drop of a hat so to speak, especially if I didn’t perform as well as I thought I should in school…by that I mean an 8/10 on a pop quiz vs a 10/10.) My fourth and fifth metacarpals (bones in your hand) are short, I am extremely near sighted, have difficulties with Eustachian tube drainage if I get a cold (thankfully haven’t had many ear infections but the ones I’ve had have been bad ones, usually in both ears at once), and have mild hearing loss at this point but not severe enough for hearing aides…yet. Thank you for sharing your story, it is so important that those of us with late diagnoses speak out. Only about 15% of my cells are missing the second X chromosome but that was enough to do it for me. Sounds like we both really fell through the medical system cracks…

[@lindac446]

You are so right to share your knowledge piggybacking on firsthand personal experience, struggles, etc. I would strongly recommend you get a LARGE service dog .. to help you up and down stairs, of off the floor etc (especially given two babies with slower than normal development). The dog will assist you in retrieving list/thrown objects, finding shoes etc, AND can be a great motivator for your babies to move, stand up, keep up, and perhaps run .. .. And above all, to LAUGH! HE CAN ALSO SLEEP WITH YOUR BABIES at nap time or nights too ... trained to alert you if the kids are mobile, or perhaps block & protect your babies from dangers (stairs, fans, electric plugs, ....) Oh, we are shocked how much JOY my service dog gives to total strangers as we do errands, shop, waiting rooms, parking lots, etc. This might also draw strangers to talk to you, and your kids, in a positive way. (My SD a You are beautiful person and will be in my prayers.

[@laskatz3626]

Best wishes to you and your family. Your children are fortunate to have you as a mother.

[@beek.4860]

I really appreciate the work you're doing. As an adult with a disability that wasn't diagnosed until recently, I wish more kids with invisible & neurodevelopmental conditions had the opportunity for a diagnosis so they don't have to grow up wondering what's wrong with them or going without the help they need.

[@nataliehuntfox8772]

I’ve never heard of this so I learned something new. You are an intelligent articulate and beautiful young lady.

[@sarahturnbull7610]

I’m afraid there are a small number of horrible people everywhere, even in patient support groups. I used to be a member of an online knitting group that has a huge bullying problem - you wouldn’t believe it. Try to look for groups with good moderation so at least misbehaving people can be weeded out. Good for you for speaking about your diagnosis and I am sure your candour will help others in the same situation.

[@TricksterModeEngaged]

it's kind of wild how much knitting group drama there is

[@Ceerads]

@@TricksterModeEngagedI don’t knit but I’m in a book club comprised of friends. Lots of drama there, too! We DO always talk politics, however.

[@tangledthreadworks]

​@@TricksterModeEngagedLong time knitter, can confirm this!

[@Angela-382]

​@@tangledthreadworks oh dear, I misread knitter as killer 😂 .

[@CAGChannel1]

Oh boy, I hear you! When I had my second biological child with Down syndrome two years after my first child with Down syndrome, I was bullied in the Down syndrome support group spoken about here and told that I was faking my second daughter because the likelihood of this happening was so small. One woman insisted that she asked her obstetrician, and he said that it couldn’t happen ( without translocation). At the time, there were a lot of moms pregnant with kids after having a child with Down syndrome, so it seemed like they were just scared and pushed there “ this can’t possibly happen again” feelings onto my situation. It was devastating for me, absolutely soul crushing to reach for help at a really, really awful time and receive this treatment. I will never “ get over it, “ and it has made me very weary of people to this day. Having multiple kids who are medically fragile with a chromosome triplication has been a very hard, lonely, soul crushing road. It’s very hard and normalcy is not possible.

[@Pushing_Pixels]

I wasn't aware of Mosaic Down Syndrome. I worked in an aged care hostel many years ago and we had a lovely resident who had Down Syndrome. She was in her mid-50's, but in many ways was still like a kid. It was a low-care hostel, so the residents had some ability to care for themselves and some independence but couldn't manage living on their own. She was our youngest resident, unusually young for aged care, but I don't think she had any family she could live with, and there mustn't have been any suitable accommodation oriented to older people with disabilities nearby, so she ended up with us (we had a couple of other residents with disabilities). It was a relatively nice place (unlike some high-care facilities), and she was well liked by the staff and other residents.

[@terriem3922]

I had never heard of this. Learned something! I have several genetic mutations, mostly affecting enzymes in my body, so this is interesting to me. I am old enough that I remember when Downs syndrome children's weren't given thyroid even when it was very low. I lost my thyroid to radiation, but wasn't treated for it for over 6 months.They didn't realize my thyroid was basically destroyed. In addition to making me sleep 18 hours a day, it slowed my intellect way down. Once they started me on thyroid, my intellect gradually came back. Mostly. Nowadays, I see Downs syndrome people on the bus, and some of them can read, act as supervision for others. I suspect the commonly added thyroid is part of the change. Now the expectations are much better.

[@livelongandprospermary8796]

That’s so interesting, about the thyroid! I do know that carbs help increase brain activity because the Keto diet was made for seizures. I wonder if there’s a further diet/brain related connection for folks w Down syndrome

[@songsofsofia]

This was very interesting! One of my daughters has Down Syndrom, and the doctors at the hospital where she was born told me about these three different types of DS. My daughter has the most common one, and she is such a blessing to our family. You are so beautiful and very articulate with or without the diagnosis. God bless you for sharing this interesting information!

[@TheTam0613]

This is incredibly interesting. I am lucky enough to have multiple family members with Down Syndrome, but I didn't realize that there were different categories. Thank you so much for sharing your story!

[@christinehutchins123]

Why is it lucky? Life is complicated enough. Is it lucky to have health issues? I'm glad society is far more accepting of disabilities in general but to say its lucky is a bit naive at best. Not everyone is as healthy and (normal) as this lady. Some people who are more affected do not have regular lives. They are not all a ray of sunshine. I have worked with several adults, and experience with a few children. The adults were mostly difficult. A lot may have to do with the parenting. In general, health conditions are not lucky and people struggle and suffer.

[@TheTam0613]

​@@christinehutchins123I'm fully disabled and have been since I was 26. Life is hard. I know that very well. The people in my family who have DS have been a blessing and I do feel very lucky to have them in my family.

[@elizabethcarroll3978]

Thank you for being brave and sharing your story!!

[@emilysundy]

Another one where this got recommended and wow how cool! I got to learn something today. Also I’m so sorry about your loss ❤️

[@user-vu2kq6ib6z]

I’ve now subscribed to your channel because my son who is 22 has Mosaic Trisomy 18, he was diagnosed at age 3.

[@westzed23]

This is something that I have not heard of before. I have friends and family with Down's Syndrome. Thank you for sharing your story and presenting this information.

[@MissingOurMissingPod]

I definitely just learned something. Thank you. No idea how this appeared in my feed, but I’m glad.

[@faceymagee1283]

I’m glad this came up on my recommendation. I’m so proud you are spreading this info. This is so new to me.

[@mmr1966]

I had no idea there were different kinds and was just so surprised. Thank you for sharing!

[@winslow8779]

This was randomly recommended to me and I'm grateful. You're incredible at explaining your diagnosis and experiences. Thank you for sharing such a breadth of experience

[@Anonymousrespectfulrep]

Ashley, thank you so much for sharing your story with us. You are amazing!

[@estrela3889]

Ashley, thank you for showing up this way. Many blessings to you and your family!

[@lorettademaio4334]

I have not heard of this, thank you for sharing. Wish you and your family good health & happiness!

[@kChandler10]

Hi Ashley. You are doing something important for many parents. Best wishes for reaching all your goals as you educate parents and care for your own lovely family. ❤️

[@jobiepatrick6150]

61 and never new, thanks so much for sharing 👏🏻👏🏼👏🏽👏🏾

[@user-hm6bn6kw6k]

Thank you for being such a strong woman and telling us your story.

[@unapologeticallyJax]

You are such a lovely woman and your children are so blessed to have you as their mother! This was recommended to me out of the blue but i am so glad it was! Blessings to you and your fam!

[@suzannadannaTARDIS]

Wow. I knew about Mosaic Down Syndrome because it's addressed in a novel I read, but I'd never encountered a person with MDS. To not find out until your 20s is mind boggling, but unsurprising. I didn't find out about my rare congenital defect until I was in my 40s, and it explained many of my lifelong health issues. Thanks for sharing your story!

[@conlon4332]

This is fascinating! And you seem like such a sweet and wonderful woman. Your kids are very lucky to have you.

[@KatriellaMusic-dk6in]

You seem like a wonderful person and mother! Thank you for sharing your story❤

[@emmafinke4931]

I’ve read about mosaic Down Syndrome before but the way you explained it made so much more sense, thank you!

[@sherryab3964]

Wow ! This is incredibly fascinating and I, as both a nurse and genetics enthusiast, did not know about this diagnosis. Thank-you for creating this channel and sharing your story! Also, my deepest condolences to you and your husband and family on the loss of a child in pregnancy. ❤

[@squidphish.]

This is the first time I’ve ever heard of this. Crazy!!

[@lulumoon6942]

Thank you Ashley, best to your family. 🙏

[@bethanymcdermott3954]

This is really interesting. Thank you for sharing your story and raising awareness! And congratulations on your recent(ish) childbirth!

[@Judymontel]

Thank you!! I had never heard of the three types of Trisomy 21. This is so valuable to know and learn about.

[@larsonfamilyhouse]

Wow! Super interesting!! Thanks for sharing! The way your eyes light up when talking about your children made my heart shine ❤ on another note- you are extremely beautiful, inside and out 🥰

[@mikemanjo2458]

I have never heard of this. Thank you so much for sharing. You are such a precious young woman. Thank you for educating people about this condition and testing. Much love, Jane in SC❤🙏

[@Lisargarza]

Thanks so much for posting! This is fascinating. I’ve heard of genetic mosaic before, but never with a trisomy. Every day, you educate a whole squadron of KZbinrs with your brave story. Definitely liking this to help your video push through the algorithm!

[@honestlyno4240]

Thank you for sharing. As a nurse in OB, we have had many advancements in the past few years. We get back early testing that can be funky. Part of this test includes Maternal DNA. Often, they suggest maternal sampling as it appears it could be from the mother. We get samples from Mom, send them off, and weeks later, we can find out what is going on. It is so fascinating to see as a clinician. I have a genetic disorder as well. Mine is not extensively studied, but researchers in this area have found amazing things like mosaic genetic disorders. Some genetic Doctors have specialized in various disorders and look to see if one is available to speak with and learn more. Most people with some forms of genetic disorders may not need help and don’t reach out because they are just fine and have no issues. I don't reach out for help because I have no clue what it is like finding out you have it. I had a Nana with many close members, but I didn't need that support. When you google usually well-adjusted people don't seek help. Some do come on to help others and you would be perfect. I always knew so I never had to accept it because it was always who I was. I had phenomenal people in my life and I didn't let it define me. Sounds like you are doing the same. You can be such an inspiration to others' bad days and good days are important to share. I know it can be hard and people are rude but truly you can be and are a voice for those in this same spot. Thank you for sharing❤

[@user-dg6gq8gs9n]

My niece has mosaic Turner's syndrome! She's only 3 but she's already bilingual, and super smart.

[@rocknrollcat36]

Thank you for opening up something new.. I had never herd of this form of the condition and now feel better informed…

[@Summer1in3]

Prayers for you and your family! 🙏Thank you for sharing your story!

[@ivanleelivingston4902]

Maybe someday you will be able to write a book about the 3 types. I am a retired DSW with 23 years in the field and I didn't know about this. We all need more education. THANK YOU

[@jennifercento9068]

Mosaicism is complicated and most doctors/geneticists don’t fully understand it yet.

[@user-xc7mc2rg7t]

Thank you so much for sharing this important information! I have a cousin, and a friend’s child, who have trisomy, and had never even heard of mosaic, nor did I know a person could have Downs without having the outward characteristics. I don’t know how to express everything that’s in my heart right now. Just…Thank you and G-D bless you and your babies! ❤

[@WooWooGirl]

I respect Ms. Zambelli very much. I have never heard of this condition. I wish her and her family happy lives.

[@dfalco2138]

Thanks for sharing your story. It truly makes my heart smile. You seem so strong and I’m sure you are an awesome mom. I have a 2 yr old grandson that has been diagnosed as having both mosaic trisomy 21 and mosaic trisomy 18. He’s such a sweetie. He is happy, healthy, running around, learning to talk, and totally an adorable blessing.

[@jkka1477]

Wow double mosaic trisomy

[@dfalco2138]

@@jkka1477 yes. We were told it’s very extremely rare.

[@patriciawilliamsn9605]

Thank you for posting this. I had no idea that there were 3 types of Down syndrome. You are so brave!

[@tomsmith5488]

Thx Ashley, never knew of this, very enlightening. You are so pretty, and seem to be a wonderful person. All the best for you and the family.

[@katamattyon]

Very informative video!! I've seen first hand some of the difficulties common among people with down syndrome, but of course everyone is unique, down syndrome or no. You seem like a caring person, I'm sure you're a great mum, every child is a blessing

[@RStarflowerpower]

This is such a fascinating video. Thanks for posting! I leaned something new.

[@thetherapymama6404]

So interesting! I adopted my daughter with DS. I hope you and your kiddos are all well!

[@jantrattner8392]

Proud of your courage - may God bless you and your family!

[@Annie-ri2tn]

Thank you so much for sharing ❤ as an MD this is so helpful! I heard about mosaicsm but never knew what it was, thank you for informing me! You already helped me to spread awareness, wish you the best ❤ for you and your family and your business 💕

[@Theluckwehave]

My youngest son has traditional T21, but the more I learn about mosaic, I think my older son has it. The 2 boys look similar but my youngest son’s features are more prominent. And my older son has some delays that I’ve tried to have figured out for years. 🤔

[@SomeoneBeginingWithI]

I knew all the biology theory that some people are a mosaic of cells with different genomes, but I had never thought about that happening with downs syndrome. Thank you for sharing :)

[@curiousbystander9193]

that's chimerism, and most are at minimum microchimeric, having incorporated a few of their mother;s cells during gestation

[@MinhSen11]

Thank you so much for this very informative video. I never heard of Mosaic Downs Syndrome. But now I do. May you, your husband and children thrive and be happy.

[@peanutandbeantakeontheworl6030]

You speak so eloquently and calmly on this subject. What an informative and uplifting message! Thank you for sharing!