"Grieving the loss of a child is a process, it begins the day your child passes and ends the day the parent joins them."

Wednesday, October 6, 2010

Down syndrome

I've been reading quite a bit about Down syndrome (Ds) this week, on various blogs and facebook. This month being Ds awareness month many people are sharing quite a bit. I have read so many different thoughts of others regarding Down syndrome. How they think of their child. How others think of their child. How society views children born with Ds and places them in some sort of separate category than other children, also known as "typical children".

We had so many people tell us "Carly doesn't look very Downs." Which by the way, I HATE the term "Downs". Carly wasn't Downs or Down, she was born with Down syndrome! We have also heard, "She sure has a mild case of Downs." and the one that always made me cringe, "She sure is a high functioning Downs." We realize that Carly had been born with Ds and we had days that we could see those Ds features loud and clear, but other days, she looked pretty much like her classmates. And in my opinion, she was cuter than many of them too! The biggest difference in her outward appearance, she was a teeny tiny little 8 year old. Of course she was born into a family where height is NOT our strongest feature. Her Bubba (brother Brad) is 5'9", if he stands on his tip toes! We think he's a giant in our house! As a matter of fact, he kind of towers over his dad; who is 5'2"ish!

Down syndrome is a genetic defect. You can NOT catch Ds from anyone. It starts at conception. Carly was born with Trisomy 21, aka T21 and Ds. We never referred to her has being born with T21. We used the term Ds. Other people prefer the term T21, neither is more right or wrong than the other. It is what it is. T21/Ds is due to a third copy of the 21rst chromosome. You and I have 2 copies and those born with Ds or T21, which ever term you use, are born with a third copy of the 21rst chromosome.

Due to having that one extra copy, there are many different traits of Ds. Traits that vary with each child born sporting an extra chromosome. Some kids with Ds are born with very distinct features, others, not so much. Not every child with Down syndrome will carry noticeable physical characteristics/features. The following are some of the characteristics that many born with Ds can have. But, they don't all have them. And they don't have all of them, necessarily. Some have fewer of these characteristics than others. Some have more. (I have placed an X next to the features that Carly had).

*A flattened appearance to the face
*A high, broad forehead
*A smaller head, proportionately with their body size X
*An upward slant to the eyes X-one of her eyes was slightly, the other not so much
*Wide set eyes
*A narrow slit to the eyes X only when she was cracking up laughing!
*Pronounced bags or folds under the eyes
*A small nose & lack of bridge or flat bridge X she had a small nose, but she did have a bridge.
*Small ears X
*Small mouth -X kind of..she was teeny and would've looked funny if her mouth were big. It fit her body type.
*A large protruding tongue
*A short neck X
*Short arms and legs X kind of... again, they fit her body type.
*A curved pinky finger on one or both hands X (both)
*Short fingers and toes X Carly had a tiny, itty bitty, 'little toe' on each foot.
*Stubby/chubby fingers
*Large space between the first and second toes X
*A single deep crease in the center of one or both palms
*Poor muscle tone X only after chemotherapy for 26months.
*Loose joints
*Weak reflexes X again, only after going through chemo.

More often than not, medical issues occur and often times they can be quite serious and life threatening for children born with Ds. The most serious of the medical characteristics associated with Down syndrome is cardiac abnormalities. Approximately 40% of all children born with Ds have congenital heart defects. Other medical issues include a higher incidence of infection, and respiratory problems, not to mention more frequency of the usual cough, cold and flu viruses experienced by all children. Carly was never sick early on in her life. Other than her heart surgery. She was 15months old when she developed an ear infection and respiratory infection. That was her first bout of oral antibiotics. (Which was far different than my other two kids. Ashleigh and Brad were on oral antibiotics quite often for ear infections from about the age of 3months up till elementary school age). Children born with Ds also have about an 80% greater chance, than their fellow "typical peers", to develop leukemia during their lifetime. On the other hand, due to their unique genetic make up, they can achieve remission and quite often beat cancer at a higher % rate than their "typical peers". Other medical issues can include epilepsy, vision and hearing problems, gastrointestinal and thyroid problems, skin problems, obesity issues later in life. There are various other medical issues too. Neck/spinal problems that most generally require surgery to correct. Air way problems and sleep apnea and the list goes on and on.

Cognitive issues also occur and occur more frequently than the medical issues and often times, more frequently than the physical features. Children born with Ds may have a difficult time learning to speak. Some may speak very well, others, not so well. Carly was getting better with her speech, but much preferred American Sign Language (ASL). We were pretty amazed with her ability to learn sign language so quickly and the fact that she taught herself a majority of her signs by watching Signing Time Videos~those cost us a small fortune to purchase, but were very well worth the money spent. Carly was using well over 1,000 signs by the time she passed away. She did speak and it was clear when she did, but she was very shy around other people and usually her words were spoken at home more than any place else.

Learning often times come slower for kids born with Ds, but they can learn and are more than capable of learning. Who cares if they learn at a slower pace. The fact remains, THEY CAN LEARN!

As most of you know. Carly did have a severe heart defect and went through 2 open heart surgeries. Surgery 1 was at the age of 3months and surgery 2 at the age of 29months. Carly also was diagnosed with Acute Lymphoblastic Leukemia when she was 32months old. Adding to the list of those pretty serious health issues, she was diagnosed soon after birth with hypothyroidism and was placed on medication at the age of three weeks. Carly's vision was good. Her hearing was good. She was in remission with her leukemia going on 6 years at the time of her passing. A few years ago she developed a platelet disorder, it was not the leukemia returning. It was in fact a platelet disorder. UofM had had other cases of kids with Ds who had gone through chemo and then were left with a platelet disorder. As I mentioned above, the genetic makeup of Ds causes various health issues. I suppose that her health issues did make her different than her school friends, but other than that she was pretty much like everyone else.

Reading the various blogs and facebook comments throughout the month of October, which I mentioned is Ds awareness month, I find myself kind of torn. Yes, my daughter was born with Ds. No, I wouldn't change that even if it were possible to somehow reverse Ds. Was she different, well, yes in a way she was. But in the end, aren't we all different from each other? I think so. Some people say that Ds is not what their child is, that it doesn't define their child. They also say that their children are just that, a child first, who just so happens to be born with Ds. I agree, for the most part, but the fact is, Ds made Carly who she was. Ds gave her the ability to love with her whole heart. Ds gave her the ability to be a carefree child. Ds was Carly's genetic make up and it did make her who she was. Carly was Carly and she wouldn't have been Carly had she not been born with Ds.


Tina said...

I couldn't agree with you more. Yes our children are different but their beauty lies in this difference, they wouldn't be who they are without DS and we love them for what they are it's not as if this way or that way is better. I wish that more and more people would understand that yes having DS means that certain things are going to be different about our kids but we cannot club them into fixed categories, there is no one kind of DS just like there is no one kind of "typical" and as for "normal" what is that anyway? I deal with issues with my so called "normal" child which I don't find so normal at times, so is there truely a thing called normal. I know we will continue to come across these questions like does she have mild DS, or she doesn't look so downsy etc. etc. and thats why I hope this month of October and all the months after helps even if in a tiny way to educate people about DS. Thanks to the link to FB, more information is getting out to those who have nothing to do with DS and probably wouldn't be visiting our blogs.

Becca said...

Great post, Joany. Btw, thank you so much for your comments about school and the school systems on my blog. I needed that little kick-in-the-pants to help get me geared up for what lies ahead, and I know it will help many others in the same way.

Melissa said...

One of the things I've found most interesting about Ds is how different that extra chromosome shows up in each of our kids. And 'downs baby/kid' makes me cringe too...

another mama said...

I'm not the mother of a Down Syndrome child, but I do agree with you. I think that in so many ways it does make the child who they are. And I don't mean that in a bad way. DS children just seem to have a capacity to love that goes far beyond that of a normal human being. They have an innocence that lasts a lifetime. I think in our society, which tries to make everyone exactly equal, we try to take away what makes down syndrome kiddos so unique and precious. We are all different, and while I do think that we are all equals, I also think we confuse equality with sameness. Sorry to ramble, but post struck a chord with me.