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Dad, Mom, and baby Meghan

Dad, Mom, and baby Meghan

Meghan through the years

Meghan's age

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Trisomy 21 trio of cuties

10 Things Every Child with Autism Wishes you knew

Sunday, October 24, 2010

"She has run of the mill Down syndrome"

Ah, I was reading a blog about how they found out their precious daughter had Down syndrome, and I remember how the news was delivered to me.

It's out of the ordinary; but Meghan was almost 2 months old before we finally got her karyotype test. She was not one of those babies who looked typical and parents find out when development lags that they have Down syndrome. She looked like a baby with Down syndrome. She was beautiful, gorgeous eyes with Brushfield spots that made them sparkle like diamonds, and the prettiest soft skin.

I can't remember why we finally did it, odd, insurance is likely, so much was happening at the time, whatever the reason was, she did not get the blood test for a while.

I have to admit that there were times I was hoping they would tell me "Well, we made a mistake, it is not Ds at all", I suppose most of us do wish that, life is so hard, growing up can be really hard for kids, even if their only difference is a stutter or needing glasses, so of course we want our kids to have less reasons to be picked on by others...it concerned us because we always wanted Meghan fully included in school from her birth (but that is another story for another day).

On the day of the blood test I was uneasy, Julia was with us, she had just told off some interns (she's not a lab rat you know), she has always been a girl who knew her mind in that respect, and we had finally asked about blood tests, everyone was shocked, what do you mean? The hospital does those at birth...except Meghan was born in a birthing center with midwives, not in a hospital, so that was yet another routine test or discussion that fell through the cracks.

We navigated a confusing basement area to find the lab to draw Meghan's blood; it had to be a special lab, one for genetic testing only. My heart was thumping, when Eric, our third born developed life threatening jaundice from ABO incompatibility, and he had to be hospitalized 3 days after his birth. I will never forget his painful cries as they attempted to get an IV into his tiny body, coming out to tell me they were thinking of doing a surgery to reopen his umbilical artery and putting it in there, it ended up in his leg... They made me stay outside of the room and I was only able to comfort him after they were done, I was livid with them for forcing me out; 3 days postpartum and majorly hormonal, I stood against the wall in tears, sobbing. As a result of that experience, we knew getting blood from Meghan was going to be tough. It is traumatic to see them repeatedly try to get into the vein of an infant, I always feel like I will pass out. That is probably why they made me wait outside for Eric…who wants mommy fainting?

After a lot of struggle, they got enough blood and wrapped Meghan's arm up in elastic band and we went back to the examination room to put her clothes back on. Julia turned white and said "Why is her arm purple mom?" Sure enough the elastic had cut off the flow of blood to her lower arm; we quickly removed the too tight elastic from her little arm and watched it regain a normal appearance. It scared Julia, she still remembers that day, but she finally understood why mommy was always so sad after Meghan saw the doctor. They seemed more careless with Meghan than our other 5 children, or maybe we were more sensitive?

A month passed, and I remember being asked what the genetic tests had found and saying; "Hmm, I don't know, no one ever mentioned if they got the results". So I called the pediatricians office and the nurse said they had been there for weeks, but she was not allowed to report the results to me, even though she knew what they said, that a pediatrician would call me with them.

A few hours later a harried sounding doctor called and said, oh yes, here are the results "You daughter has run of the mill Down syndrome". I thanked him and hung up. Well, no surprises there, but an ever so slight disappointment in the back of my mind, “So it is true”.

I told another mom what the doctor had said, not really thinking about it, and she was aghast, how flippant of that doctor to say it in such a way, I guess I was used to them being insensitive, I had not given it much thought until I saw her reaction.

So Meghan has run of the mill Down syndrome, so do Kara and Amanda. I am certain their moms did not think it was so run of the mill when they heard the news either. 90% of babies born with Down syndrome have Trisomy 21; the other types, mosaic and translocation are much rarer.

Hmmm, run of the mill Down syndrome? What does a child look like who has run of the mill Down syndrome?

When Meghan was younger, I spent a lot of time checking off her Ds characteristics, she has the palmar crease on one hand, not the other, her nose looked like mine but she has a flat facial profile, but so did I as a child...her almond shaped eyes are just like mine too, but she had epicanthal folds, did I, who knows? Her skull is smaller than average, so is mine. She had thick thumbs and shorter fingers, but skinny feet. Her arms and legs are slightly shorter than average. She has stick em out ears, no little folds along the tops. She also had moderate hypotonia and loose joints. Stabisimus which eventually required corrective surgery, and is becoming slightly near-sighted. She also had a heart defect; also minor compared to other children’s, major to us. When you think about it, all those things are pretty minor, except that to us, who never has a child with any major health issues, they were not.

I will never forget the way I felt when a mom who was working with our family to help us adjust to our news said "Oh, your daughter is high functioning" and there was a bit and sorrow and jealousy there. High functioning compared to what? It was the first time I heard those words in relationship to a child. Her daughter was born with lots of medical issues including cataracts which made her legally blind, I suppose to her, any child without vision issues would be "higher functioning" than her daughter. Her daughter also had trisomy 21.

I had 15 close friends who had babies around Meghan's age, a blessing at a time when so much was new. One of those sweet girls had epilepsy, and trisomy 21. Another little guy had Tetrology of Fallot and AV Canal, he was also very ill post surgery and had many other health issues following it. He also has trisomy 21.

Just as a side note, there were only two of us in that group who were older moms, the rest were younger than 35, one was 18.

When we adopted Kara it was plain that she had the curved pinkie finger, no palmar creases, but the little fold on her lower set ears. It was not until I took her from the orphanage on Gotcha day that I saw that she had webbed toes, her 2nd to her 3rd, and her 3rd and her 4th, she also has a huge space between her big toe and the rest, and short, flat, wide feet. Kara also has extremely low tone and very loose joints. She has trunk weakness and shoulder girdle weakness and tends to gain weight easily. Kara has nystagmus and strabismus, but has normal functional vision. It was reported to us in Ukraine that she had "wild eyes" and we quickly learned they were referring to the rapid movement of her eyes when she was tired. When we picked up Kara her facilitator kept telling me she did not look like a “Down syndrome baby”. For Kara the “look” was transient when she was three, but more obvious now.

Amanda Moo? We have a couple of pictures of her from adoption websites, she always looked like an infant with Down syndrome too, in one she looks grumpy LOL, the other disinterested. I wondered about autism and her pupil size when I saw her picture the first time. She has some other issues not associated with Down syndrome; positional plagiocephaly, not certain if it was from the womb, or from being left in a crib too long, a partial expression of Aniridia, one in 80,000 people have this condition, varying from partial to full (no iris, just the black of the pupil) interesting that most people with aniridia are nearsighted, but Amanda is far sighted. She also has minor strabismus. Amanda has a persistent left superior vena cava, only 2% to 4.5% of the population have dual superior venae cavae. Amanda is just unique! Oh, and she also has run of the mill Down syndrome, and autism....

3 comments:

GoldenAngelsWorks said...

All 3 girls are very unique and very special. I know you and your family love them and so do I.

Adelaide Dupont said...

Hi.

There is a really cool link here:

What is high-functioning? Could be painful for some and cool for others. The important thing is that "interested humans" rewrite the definitions

Anonymous said...

I love the phrase, "run-of-the-mill Down syndrome"! Makes me LOL! I don't take offense. It more makes me think of the way we accept our children as perfectly normal and made exactly the way God intended. Thanks for the smile! I won't forget this new phrase anytime soon!
--Amy (Joshua's mom)

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