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My diagnosis will not stop me from having more kids π
Julia John
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2 months ago
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Creativity
Transcript
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00:00
I have had people tell me that I need to be sterilized, that I shouldn't have had kids with
00:05
Down syndrome. My diagnosis will not stop me from having more kids. In 2019, I miscarried our son
00:11
that had Down syndrome. In 2020, I gave birth to our firstborn daughter who has Down syndrome. And
00:18
then in 2023, I gave birth to our third daughter that has Down syndrome. While I was pregnant with
00:24
her, my OB was like, I have never had a patient had this many pregnancies where there was a positive
00:30
test result for trisomy 21. But genetic testing left her with more questions than answers. I went
00:36
ahead and spoke with a genetic counselor. They did think that I should get testing done. Usually you
00:42
can find out through a blood test. But for me, both of those tests came up negative. They told me that
00:49
I did not have any genetic abnormalities. So I was like, cool. I guess this was just a fluke,
00:54
a happy fluke. I was very happy that I had all my children with Down syndrome.
00:59
But her geneticist still thinks there's something not quite right. So the hospital pays for her to
01:04
have further testing done. My geneticist calls me back and they're like, you've had way too many
01:10
children with Down syndrome for this to just be a fluke. I got the bugle smear done, which is like
01:15
this little cotton swab. And they just rub it on your cheek for like 30 seconds. They'll do it on
01:21
both sides. They took that sample. They analyzed about 400 cells. Three percent of those came back
01:28
positive for trisomy 21. That's how I was diagnosed with mosaic Down syndrome. Her story takes a darker
01:35
turn when strangers start questioning whether she deserves to be a mother. I have had seven pregnancies
01:41
and I have three living children. Had I not had kids, I probably would have never known that I had
01:47
Down syndrome. My diagnosis will not stop me from having more kids, even if I knew for 100% that they
01:54
would have Down syndrome. That's not a problem for me and it shouldn't be a problem for anyone else.
01:58
One of her children is not diagnosed with the trisomy 21 gene. So she undergoes testing to find out
02:04
if she also has mosaic Down syndrome like her mom, or if her chromosomes are all typical.
02:10
Mosaic Down syndrome is when you have a portion of typical cells and then you have another portion
02:17
of cells that have the extra 21st chromosome. Like in my daughter's case, every single one of her
02:24
cells in her body has that extra 21st chromosome. With mosaicism, only a certain percentage of your
02:30
body has that extra chromosome. Evelyn's genetic testing came in and the result was she is typical.
02:39
Which is awesome to hear. It means that I am capable of having typical children. So that means my chances
02:46
of conceiving a child with trisomy 21 is 50%. It's actually super interesting though because obviously
02:52
that means that one of my ovaries is affected and one is not. Lillian and Catherine both came from the
02:59
same side and Evelyn came from the other side. So if I can find those notes, then I know for sure which
03:05
ovaries isn't is not affected.
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