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coco finally caught the opps lacking

🤢

The music is too funny. Cute. ❤❤

That dog would be G O N E

Lol so funny

Awwwwww

Me sneaking up to my friend when were playing tag 😂

I had never heard of this! Thank you for sharing.

She’s so cute!💗

She is so cute omg! 😭

Good!!!!

Como

Good

Muy bien

Bien

Good

Genial

This is new information for me! My younger cousin, (1969 -2005), had Downs Syndrome and was my reference point for years. Even though I've learned some over the years, this is the first time hearing about Mosaic Downs. Thank you!

Could tell from the voice.

Mosaic DS is something I had never heard of until after my daughter with DS was born and we were reading into the condition. It's always fascinating to find out how this condition affects different people, depending on exactly what is going on in their cells.

Thank you! I had no idea and have learned so much from you.

My daughter has T21 Ds , you are an amazing rare person.

Wtf? Why are you celebrating downs syndrome?

My son was born looking normal but somehow different. He ended up being diagnosed with autism at age 3, but before that they suspected Mosaic Trisomy 21 and doctors did a bunch of genetic testing. It came back negative for the Trisom 21 but after seeing your video I wonder if this could be something that I have. I've never had genetic testing. I've had learning disabilities in elementary school, heart palpitations and tachycardia since early childhood, along with flexible joints and skin issues. Also, I have a flatter face, no real cheek bones, and an ENT told me that I have very thin skull bones and that my sinuses did not develop all the way, which explains decades of sinus problems and infections. I've been wondering what I have. My mom was a teen when she had me and probably not nourished the best.

It would be hard for anyone. Not ideal. Hope ur looking after yourself

Very interesting. My mother was told I was supposed to be born with downsyndrome but I came out typical (now with MFPDS + fibromyalgia but I digress).. I'm glad she did not abort and I'm glad you love your family for all they area. I've never heard of Mosaic Down Syndrome that's very interesting.

The medical field is also the responsible for prenatal testing, and subsequent abortions. I don't think that an increase in life expectancy counteracts all the harm done, taking into account that most people will "abort" their down syndrome childs.

She is a liar

Did you have any learning Problems in school? Even with mathematics?

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 💕

Back to back pregnancy increases your risk of uterine damage and defects related to nutrition, especially neurological due to folic acid. (I’m not sure the risks of chromosomal deletion or nondisjunction. But there is a correlation.)

You’re fucking fried 😂😂😂

I don't have any children, and as far as I'm aware I don't have this condition as it's the first time I've heard it exists. How fascinating, but horrifying that such a small percentage of your cells being affected has such huge consequences. I miscarried a year and a half ago, but they never tested the embryonic tissue. I often wonder what happened.

DS only affects fertility in males

I was a cliniical cytogeneticist for 35 years and the details of your story totally ring true to me. Eventually if you work in this area of medical care long enough, you will enounter just about all possible combinations of phenotypic effects in mosaics. I have seen patients with normal facial features but moderate to severe mental retardation as well as those on the opposite end of the spetrum, clearly recognizable physical features typical of Down's but no eviident MR. The phenotypic expression of chromosomal mosaicism is entirely unpredictable and counseling can only offer imprecise conclusions until the patient's features are accessible to examination after birth and several years of development. It is hard on people who expect clear cut conclusions about the future of themselves and/or their children. It is no surprise to cytogeneticists that there is little if any comprehension in society at large that mosaicism exists and that its iimpact is basically unpredictable and occasionally astonishing. I taught the section on Genetics to first year medical students whille in academia and always felt that the training we provided was easilly lost in the background of biological and medical information these students are expected to absorb. Some go on to experience the role of chromosome abnormalities first hand during their residency, but even then, the subject is too vast and arcane for them to develop a skill level sufficient to safely practice any genetic counseling. A team approach involving clinical MD's, Laboratory PH.D's, and profession trained gentic counselors is requiired to provide even the baseline care that is needed to help individuals and families deal with the wide range of issues and knowledge that must be navigated. Public education will likely never catch up with all the developments that are now occurring in this field as well as many others. The role of person's such as yourself who are willing to face the frequently difficult task of sharing your own experiences with those you come into contact is likely to be the best and perhaps only way that real knowledge about these rare conditions will become accepted in our society. Thank you for your efforts and your admirable courage.

Sounds vaguely familiar hearing about it when I was younger and I remember from kids in school being seperated from other kids and they did it in highschool too they weren't in any of our classes.

Thank you for sharing. I never heard of this! I thought Trisomy 21 was the only form of Down syndrome.

Congrats Ashley to you and your beautiful family!

Good to learn I may have down syndrome first thing in the morning😂

So interesting!!! I worked in PICU for 30 years and I never encountered this!!! Thank you for sharing this. God Bless you.

Beautiful parents, beautiful family.

For God so loved the world, that he gave his only begotten Son, that whosoever believeth in him should not perish, but have everlasting life.

I’m a heart mom, and I became friends with another heart mom, shortly after finding out about my daughter’s CHD, who’s heart warrior had Down syndrome. Unfortunately, her baby lost her battle with her CHDs shortly after her first birthday. She’s still an advocate for Down syndrome and CHD, and I admire her strength! If I remember correctly, half of people with Down syndrome also have a CHD/CHDs…???

What is the prevalence of mosaic down's?

You have to understand that not only do most people not know about mosaic Down syndrome, but most people don’t know what Downs is period. They might have heard of it or come in contact with people with Downs, but many have no idea what it actually is. I teach special education and 2/5 of my students have Down syndrome… and even so, my husband didn’t know what features those with the syndrome have compared to those on the autism spectrum. He’s asked me than once what the difference between them is. And I always remind him: they are not even close to the same thing! Different features, causes, difficulties, etc. I’ve come across many people that do not know about Downs.

interesting re: the US calling it Down syndrome rather than Down's syndrome. I wonder if they do that with all the syndromes named after the doctor who first described it/popularised that.

Also true for those who cannot have children. Life is what it is.

I totally get you on the whole being accused of lying or faking it. There are people out there that do fake disorders, and they generally hurt us as a community. I don’t have Down Syndrome, but I do have Autism. I’m “atypically” autistic and wasn’t diagnosed until I was 14, and one of my major concerns is that someday, some mom of a more “visibly” autistic child will think it’s in her right to come up to me and say “you don’t have autism” because I’m not like her son.

This is facinating. You are lovely. Thank you for sharing

Why were/are you having kids so young???