Eyes Like Sapphires

Life with Down Syndrome

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Down Syndrome Awareness Month: Day 27

About half of all children with Down syndrome are born with a congenital heart defect. Most common are holes between the chambers which can range from mild to severe. Symptoms include heart failure, difficulty breathing and failure to thrive in the newborn period.

Heart surgery is often recommended before the age of 5-6 months in order to prevent lung damage, though some babies have a difficult time putting on enough weight for the surgery because of the CHD. By all accounts it is the scariest experience in the world to hand your baby over for open heart surgery, especially when their heart is about the size of a walnut, but thankfully the procedure success rates hover around 99%.

Frankie was born with a very tiny Atrioventricular Septal Defect – a small hole between the top two chambers of her heart. According to her cardiologist most everyone has this in utero but it usually closes by the time a baby is born. Sometimes it doesn’t, even in the typical population. Frankie’s ASD was seen at her first echocardiogram at 3 weeks old and we’ve been keeping an eye on it ever since. This morning’s exam showed it still hasn’t closed but the doctor said it’s so tiny it doesn’t require any intervention. He also said that if we’re curious we could come back to have it checked out in a year or two…

Um, no thanks! Because holding your toddler down for an echo is about as fun as wrestling an alligator! But it’s worth it because we are now cleared from cardio!!!

Down Syndrome Awareness Month: Day 26

Here’s a scary statistic for you – virtually 100% of people with Down syndrome will develop the pathology of Alzheimer’s in their brains by the age of 40.

Studies show that one the main genes on the 21st chromosome (which people with DS have in triplicate) controls the production of amyloid, the substance that forms the sticky plaques associated with Alzheimer’s. The overexpression of the 21st chromosome means that people with DS are the largest group of people predisposed to Alzheimer’s. The silver lining is that this makes them perfect candidates for research into the disease which also sheds light on how the brains of people with DS work.

Discoveries being made and drugs being developed are super encouraging that we are on the path to a cure. A cure that will undoubtedly benefit the lives of those with DS as well.

Downsyndromeawareness #dsam2017 #Alzheimers #downsyndrome #rocktober #rockthe21 #t21 #trisomy21 #lifewithds #morealikethandifferent #theluckyfew #nothingdownaboutit #lifeisbetterwithyou

Down Syndrome Awareness Month: Day 25

Frankie was a Daddy’s Girl from her first day on this Earth. She will do things for him that she will not even entertain for me (like poop on the potty! Twice!). Among her first words was a breathy, coy “Dada!” and her blue eyes sparkle just a little more when he’s around.

And the feeling is mutual. He is definitely not a warm and fuzzy guy, but he visibly melts when she runs to him. I have seen his edges soften since she was born. Even other people have noticed that he’s a real softie on anything pertaining to Frankie but he’s not a pushover either. He gives her just the right amount of support to ensure that her accomplishments are her own.

His reaction to her diagnosis was unflinching, total acceptance. He never once doubted that she would be the star that she is and he was my rock through the early dark days.

I sometimes actually feel a little jealous of their relationship since losing my own Dad in January, but I’m so grateful that they have such a special bond. She already knows how special Daddies are.

If she could talk today, I’m sure she would say:

“Happy birthday, Daddy! Ah wuv oo”

Down Syndrome Awareness Month: Day 24

Down syndrome has made my life easier. I know that sounds weird. Let me try to explain.

Before Frankie, I spent a lot of time and mental energy worrying we didn’t own a home, we didn’t make enough money, maybe I wasn’t ambitious enough etc, etc. I called it “planning” but I was preoccupied with the future so much so that I was very rarely satisfied with where we were now.

After her diagnosis I went into full research mode in order to get an idea of just what our new future was going to look like. But it was useless. There were so many variables. I thought to myself, well, she’s completely healthy so that has to mean she’ll grow up to go to school, live independently and have a great job. But, I found that wasn’t a predictor of anything – I encountered kids and adults of all levels of functionality regardless of their health status. I struggled to find other indications of what our life would be like. Finally one evening I was researching college programs for kids with special needs. “She could go here!” I excitedly told Seb. “Are you worried about where Tristan is going to go to college?” he asked reproachfully. “Well, no,” I admitted. “Then why are you making yourself crazy worrying about her?” he said.

Something clicked then. I realized I couldn’t possibly know what her life was going to look like and that that wasn’t necessarily a bad thing. Because the future was beyond our sights, I had no option but to focus on the present, to take each day as it came. As a result, I have become more content with our lives in general. We still have goals, but they are more immediate and more attainable and the future seems less daunting, smaller, quieter. I am more thankful for what we do have and have achieved instead of worrying about all we don’t have or haven’t done.

I used to think that feeling like this would be settling. A cop out. But it’s not. It’s so much better than before. This is what families of children with DS mean when they say their child changed them for the better.

Down Syndrome Awareness Month: Day 23

As a mom, I spend more time and care over the appearance of my child with Down syndrome than I did with my typical son. First impressions count. That’s a fact.

I hate vocalizing that. It makes me feel shallow and discriminatory. But a discussion with other moms of kids with DS proved that I was not alone. We take more care and spend more money choosing clothes, we wipe little noses more often so that they’re free from boogers, we battle fidget monsters to make sure hair is done, teeth are brushed and faces are washed.

We feel that we are fighting against the stereotype of a disability that is written all over their little faces. One that only a generation ago would’ve landed them in an institution where they were often neglected, uncared for and unloved.

Making sure they look well cared for feels like a statement of their worth. It says “Look at me. I am important. I am a person. I am loved. Maybe you can love me, too.” Most of us are ashamed we feel this way, but, on the other hand, we’re super proud of all of these little babies with DS looking adorable and challenging perceptions. It’s complicated.

At any rate, mom guilt aside, I hope that fostering good hygeine habits and a pride in her appearance will serve her well in the future. She’s already got a killer sense of style!

Down Syndrome Awareness Month: Day 22

Speech is often the last skill to develop in children with Down syndrome, but most will learn to speak and use speech as their primary means of communication. Low tone is once again one of the main culprits behind the delays, as are difficulties with oral motor planning and with the coordination of breathing, vocalizing and producing speech sounds.

Speech is definitely Frankie’s Achille’s heel. When her therapist gives me a pep talk, she assures me that she is only about 25% delayed. I try to keep calm about it – after all, Tristan was not an early talker by any means and now he does. not. shut. up! But it’s the area I see her falling behind her peers in the most.

Although it is what I’m most concerned about, I feel like we recently turned a corner. In the past month or so, Frankie will often dutifully repeat what we ask her to. This is huge for us – we always knew her receptive language was excellent and she understood everything we were telling her, but we think it was her stubborn streak that kept her from approximating the words we asked her to try. In the past we would hear her say some words, but they were inconsistent and even when we thought she had something down, it might disappear from her vocabulary without warning. But her willingness to try has made all the difference in the world and is resulting in spontaneous language as well.

This morning after her bath, I wrapped her in a towel and sang a song to her. She giggled hysterically as I rocked her as if she were a baby. Looking down at her perfect, happy face I said “I love you.” And then it happened.

“Ah wuv oo.”

The milestones can take longer to achieve, but boy are the highs high!

Down Syndrome Awareness Month: Day 21

A long time ago, before kids, I had a conversation about the state of the world with a good friend. I told her I wasn’t even sure it was a good idea to bring children into such a mess! She said “Yeah, but there’s love and marriage and children and family” – the wonderful things that make life worth living.

After Frankie was born, I was starting to come to terms with her diagnosis when this memory came back to me. I suddenly was depressed all over again thinking she’d never have any of these things; things that supposedly make it all worthwhile. But another wise friend, Melissa, said to me “She will find the things that make her life worthwhile.”

Women with Down syndrome have had children, but it’s very rare. If they do achieve pregnancy, their child has a 50% chance of being born with DS. Men with DS are largely thought to be infertile, but it is a difficult statistic to measure. Throw in the fact that historically adults with DS have not been encouraged to date, marry or have sex and you can see why there is little information available.

We struggle with this a lot. In fact, the only time Seb has shed a tear about her diagnosis is when we talked about how she probably could not have a family of her own. It is heartbreaking to think that such a momentous choice in life has been taken away from your child right off the bat. I used to think that I would do anything in my power to help her have a baby. But now as I learn more and as she grows, I’m not sure. The few people with Down syndrome who have had children have required a trememdous amount of support. We have to be realistic.

BUT, that is such a long way away. We don’t know how she will develop, we don’t know the advances that will be made in the lives of people with DS, we don’t know if she’ll even WANT children of her own. This is exactly how and why I have learned a huge lesson in being present and living in the moment since Frankie was born – we just can’t know what the future holds so there’s no point in worrying about it.

In the meantime, I hold my friend Melissa’s words in my heart. I have to trust that Frankie will pave her own path to happiness.

Down Syndrome Awareness Month: Day 20

A 2011 study of siblings of children with Down syndrome conducted by Childrens’ Hospital Boston found that:

96% had affection towards their sibling
94% were proud of their brother or sister
88% felt they were better people because of their sibling with Down syndrome

Last night after dinner, I interviewed Tristan about Down syndrome. Our conversation went something like this:

ME: When you look at other kids Frankie’s age, what differences do you see?

HIM: You mean other babies? Nothing. Except maybe she doesn’t talk as much as other babies, I think. But really, can they say TA-CO like her??

ME: If you could change something about her, what would it be?

HIM: About this little girl? Nothing. She’s my perfect little sissy.

ME: How much do you love her?

HIM: The most! You and Daddy and her.

ME: How do you think our life has changed since Frankie was born?

HIM: Well, the easiness factor has probably gone down – for YOU, because well, you know she cries and stuff like that. But the happiness factor has gone way up!

Down Syndrome Awareness Month: Day 19

Most people would say that when you receive a diagnosis like Down syndrome you go through a whole range of emotions. That was certainly true for me.

Looking back there are so many things I wish I understood, but I really believe that there is nothing anyone can say or do that will make everything all okay for you in an instant. It’s a journey with many stages. There is no way around it, you have to go through it. You have to live it.

Ahead of Down Syndrome Awareness Month, the DSDN asked us moms to share a letter written to our diagnosis day self. None of this is news to those who know us, but here is ours

Down Syndrome Diagnosis Network: Dear Me

Down Syndrome Awareness Month: Day 18

I really love sharing about Down syndrome for October and I so appreciate all of your wonderful feedback about Frankie and how well she is doing. But sometimes I get the impression that people feel that because she is doing so awesomely, she is somehow an exception to the Down syndrome rule and that our experience is rare.

So I just wanted to take a minute to say she’s not and it’s not. Social media has been an invaluable tool for us in so many ways, but mostly it brings a global DS community right into our home and allows us to cheer the successes of our “friends” all over the world. These kids impress us every day with their strength, their intellect and their abilities. We watch videos of them climbing and running and jumping and talking and singing and reading (yes, reading at 2.5!). The range of accomplishments is staggering and it’s a joy to see each one discover their own strengths and weaknesses.

Yes, we have been blessed in many ways, but Frankie is definitely not some kind of Down syndrome prodigy. I’m not sure if it’s because we are seeing more about kids with DS online and in the media. Or maybe constantly improving health care, research and therapy has something to do with it. I would bet that it’s probably a combination of both, but people with Down syndrome are so much more capable than they’re given credit for.

So, please take a second to just look at these beautiful little faces who are all around the same age as Frankie and know that they are absolutely rocking their extra chromosome too!

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