Today's blog post is by one of my friends, Emily. She is a member of the (Extra)Ordinary group. It is our 2011 subgroup of our local Down syndrome association. Her daughter, Nora, and her twin, Katie, are two days younger than Hailey. She is a phenomenal mom who always seems to have it together and seems so calm handling her 4 young children. Enjoy!!
I was always jealous of people who had a passion that drove their
life. My best friend is passionate about everything, and always seems
to be doing great things. Another dear college friend is a pastor and
has been serving others since the day we met.
When Nora came
into our lives in February of 2011 I was thrown off kilter. We knew
about her heart condition, and had had a conversation with a genetic
counselor while pregnant, but hadn’t put too much thought to what Down
syndrome was or would mean to our family. I knew right when I saw her –
those eyes told me immediately. And it’s not that I jumped for joy, I
was sad with the possibility and a few days later the confirmation. But
I am an optimist to my core and knew no matter how I felt about it,
it’s not something I could change, so I started to learn about what it
would me to us. Three and half years later it has given me more than I
could have imagined.
I hope others can see the passion in me as
well, and that it’s not too overwhelming when I do share. Like many
parents to children with special needs, I am excited to teach the world
all about Down syndrome and why it’s really not as scary as it may seem
at first. On behalf of Nora and other individuals with special needs I
learned more about government than I ever recall from high school by
serving on the Government Affairs Committee for the Down Syndrome
Association of Greater Cincinnati including travelling DC to meet with
congressmen and encourage them to pass legislation (the ABLE Act -
https://www.congress.gov/bill/113th-congress/house-bill/647), I worked
for two years to network and land a job with Cincinnati Children’s
Hospital so I am now helping to “improve the outcome” for many families,
I am a member of the Family Affairs Committee for the Division of
Developmental and Behavioral Pediatrics for CCHMC, I am taking part in
local level government on the County Board of Developmental
Disabilities, I am advocating for Nora and becoming an expert on her
IEP. All of this, and more, because of one little girl.
And I am not a super mom, I am just a regular mom who has found her passion – and it feels great.
And before I go, just a touch of my passion in form of Down syndrome Facts: Did you know?
*
The correct terminology is Down syndrome. There is no apostrophe and
there is no capital “s” in syndrome. The syndrome is named after the
physician, Dr. John Langdon Down, who identified the common
characteristics as a syndrome in 1866. A child with this condition is a
child with Down syndrome, not a Down’s child or the Down’s kid in Mrs.
Thompson’s class. Parents greatly appreciate your sensitivity when you
address their child as a “person first” and not merely as a syndrome.
* The average age of a mother giving birth to a baby with Down syndrome is 28, 80% are under 35. (see #1 ref below)
*
Most people with Down syndrome have some degree of intellectual
disability, however, it usually falls into the mild to moderate range
and is NOT indicative of the many strengths and talents each individual
possesses.
* People with Down syndrome are not always happy.
They have feelings just like everyone else. They respond to positive
expressions of friendship and are hurt and upset by inconsiderate
behavior.
* Down syndrome is the most commonly occurring
chromosomal condition. It occurs when an individual has three, rather
than two, copies of the 21st chromosome. This additional genetic
material alters the course of development and causes characteristics
associated with Down syndrome. Down syndrome occurs in all races and
economic levels.
* Individuals with Down syndrome have higher
rates of Alzheimer’s Disease. The 21st chromosome contains the APP gene
which produces amyloid precursor protein (APP). This gene causes APP
to be produced and form beta-amyloid plaques which are characteristic in
the brains of individuals with Alzheimer’s. Starting in infancy,
individuals with Down syndrome produce lots of APP. By middle age the
accumulated plaques wreak biological havoc on the brain. There are
currently two clinical trials underway with people who have Down
syndrome through NIH to study drugs that may limit, and hopefully even stop, the effects of this plaque and the resulting Alzheimer’s. (see #2 ref below)
References:
# 1
http://www.dsnmc.org/wp-content/uploads/2011/01/DSNMCEducationResourceGuide.pdf
#2
http://www.nia.nih.gov/alzheimers/features/researchers-seek-alzheimers-clues-people-down-syndrome
