Day 10

Day 10: It is estimated that between 60% and 90% of pregnancies with a prenatal diagnosis of Down syndrome end in abortion in the U.S. In other countries, it has been found to be as high as 99%.

Too frequently outdated information, misinformation, or no information is being provided to parents at an incredibly vulnerable time.

It's really scary to hear your child has Down syndrome, I get it. I'd venture to guess that almost no one is thrilled to hear that news. All I can say is that it is impossible to understand how much you will love your child before you know them. Raising L and getting to know her has proven wrong all of my preconceived ideas of what life with her would be like, of what she would be like, of how I would feel about her, and it has changed me so much for the better that it's impossible for me to explain. She has opened my eyes to what is truly important in life.

Day 8

Day 8: Yesterday I made the mistake of reading a bunch of comments on an article about prenatal testing and Down syndrome. I'm posting a screen shot of one of the 'nicer' comments just to say that THIS is why I post about L and about Down syndrome. This is why education and awareness are SO IMPORTANT. There is so much ignorance out there. SO MUCH. For the record, when you have a child with Down syndrome, you don't see them as your child with Down syndrome, you see them as your child. You love them like any other child. L is not a burden to me, and even if she never moves out, never gets married, never has a job, she will NOT EVER be a burden. I love her and can't imagine a day without her. She is glad to be alive and the feeling is mutual. And it isn't because I'm some kind of saint mom. I thought special needs moms were all saints before L, but trust me, I am not. I am just a mom, period, and moms love their children unconditionally. And I'm going to continue to shout L's worth until the day I die in hopes of changing these horrible attitudes and misconceptions that so many people have. As a human race, we need to be better.

Day 6

Day 6: A concern for new parents may be how Down syndrome will affect their other children or future children, so let's talk about quality of life for siblings of someone with Down syndrome. Here are some stats from a study done on 822 siblings. "More than 96% of brothers/sisters that responded to the survey indicated that they had affection toward their sibling with DS; and 94% of older siblings expressed feelings of pride. Less than 10% felt embarrassed, and less than 5% expressed a desire to trade their sibling in for another brother or sister without DS. Among older siblings, 88% felt that they were better people because of their siblings with DS, and more than 90% plan to remain involved in their sibling's lives as they become adults." In other words, the effect Down syndrome has on siblings is OVERWHELMINGLY POSITIVE. Now you know! 

L doesn't have a sibling so here she is with her cousin. It's the best we could get of them.

Day 5

Day 5 (Down syndrome Awareness Month): Let's talk about quality of life for the actual person who has Down syndrome. I've heard tales of parents being told, following a prenatal diagnosis, that their child with Down syndrome will have poor quality of life. This is sometimes even used as a reason for termination of pregnancy. This is yet another MYTH. Here is a quote from a survey of 284 people with Down syndrome over the age of 12 who were asked about their self perception, "Among those surveyed, nearly 99% of people with Down syndrome indicated that they were happy with their lives; 97% liked who they are; and 96% liked how they look." Now you know!
 

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3740159/

Day 4

Day 4 (Down syndrome Awareness Month): For the next couple of days, I want to talk about quality of life. I'll start with the effect Down syndrome can have on marriage. One might assume that the divorce rate among couples raising a child with Down syndrome is higher than if they're raising children without Down syndrome. This is a MYTH. In fact, according to a study done by the Vanderbilt Kennedy Center of more than 370,000 families, the divorce rate of couples with a child with Down syndrome was 3.2% LOWER than those families who did not have a child with disability. It's hard to be mad for too long with a little ball of sunshine around! And now, a not so sunshiny pic...

Day 3

Day 3 (Down syndrome Awareness Month): There is a common misconception that all people with Down syndrome look alike. While many people with Down syndrome may have certain similar features (almond shaped eyes, flat nasal bridge etc), they look more like their family members than they look like other people with Down syndrome. Here's a picture of L next to a picture of me as a baby. Can you tell she's my girl?

Day 2

Day 2: Babies with Down syndrome have low muscle tone (hypotonia). This means reaching milestones such as rolling over, walking, and even eating certain foods may take longer for a child with Down syndrome than a child without. Because we see her working hard every day, it is a big celebration for us when L meets new milestones. You can see in the video below that she is used to being cheered on. She claps for herself and makes sure we are watching when she does things like stand up.

I found it easy to get really wound up in trying to take on everything at once when I began this journey. Because of your child's diagnosis, you may feel like you have to use every bit of your time and energy preparing them for their future like I did. I suffered from a lot of self-imposed stress and guilt for a while, and would love to save someone else from doing the same. I've compiled a short list of things I've learned and am sharing them here as my way of telling new parents to chill out. Take a breath.  Release the pressure! 

1) It is OK to cancel therapy occasionally (but do keep in mind that a lot of therapists get paid by the hour). Have a lot to get done today? Cancel it. Too tired? Cancel it. Want to go to the park instead? Go to the park!!! Skipping a therapy once in a while is not going to mean the difference between your child growing up to be independent or not, but it may mean the difference in you losing your mind or not. Your child has his or her whole life to learn. It is more than ok to take breaks. In fact, I recommend it.

2) Similarly, it is OK if you aren't constantly teaching your child or working with them on something. In the beginning of this process I thought I needed to be intentional with everything we did. I felt like we needed to be incorporating physical/occupational therapy into every moment possible throughout the day. I felt guilty if I needed to do something like go to the grocery because that meant she wouldn't be active for an extended amount of time. Whoa! That caused a lot of unnecessary anxiety for me. Once I realized that it was fine to be in the moment and enjoy our time together without the added pressure, things got a lot happier around here. Your child is learning from you in those moments as well, you know, things like how to have fun, how to love, how to grocery shop :), things that are just as important as crawling or knowing their letters. Of course, we still work on things throughout the day, but it isn't something that dominates every second anymore, and even so, L is doing great!! 

3) You don't have to buy every book, and read every blog on Down syndrome immediately (or ever, really). It is great to gather information and to be knowledgeable, and there are a few things I would advise everyone to learn about (mostly health related, like Infantile Spasms, since the earlier they're treated, the better) but this is a learning process (emphasis on process). You will learn as you go.

4) You don't need every developmental toy and tool that everyone recommends, and you most certainly don't need them all right away. There are several things I bought immediately that have been sitting on a shelf for over a year not being used (and going back to #3, there are several unread books on our shelves as well). I have a running list of toys/tools that we have used, but there are most likely plenty of things laying around your house that will do the trick just as well as something you can buy at the store. Time to work on cruising? Take off the cushions and use your couch. Get creative, and save some $$.

5) Last but not least, do what is right for your family, and don't look back. If you want to let your child grow at their own pace without using therapy, then do that. If you want to get your child involved in every therapy and every class you can, then do that. Whatever you decide, just make sure that it is what feels right and that you are confident and happy in the decision.

I know I still get overwhelmed at times so these are things I need to remind myself of from time to time as well. I'll say it again, release the pressure!  Your child is their own unique person and will do everything when they are good and ready to, and they are going to amaze you every step of the way.

 

Now for some pictures of L messing up the kitchen as I was cleaning today. 

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Thursday with L

I've said it before and I'll say it again, when L was born I was scared, really really scared. I searched the internet for information. I looked up Down syndrome related hashtags on Instagram. I watched videos on YouTube, "4 month old with Down syndrome", "5 month old with Down syndrome". I wanted to know what our life would be like. Will we be happy? Will I get to experience those specials moments with her that I had dreamed of? 

I was thinking about these things a few mornings ago, how worried I had been, and how life with her has turned out to be everything I had hoped for and more. I decided to make a short video to give others a glimpse into an average day in our lives in case someone else recently received a Down syndrome diagnosis and is searching like I was.

You can click below to watch Thursday with L

and I'd like to extend a special thanks to Steven Page for providing the music.

3.21.16

Last spring was a hectic one for my family. With two weddings and a baby on the way, there were multiple showers, parties, and events to prepare for and attend. On March 21st, I was hanging streamers, making punch, setting out trays for finger foods, and getting my house in order for my little sister's bachelorette party. I was 6 months pregnant with L, and I was busy busy busy. World Down Syndrome Day was not on my mind. In fact, I was not even aware of its existence. 

  Pretty Things taken March 21st, 2015

  Pretty Things taken March 21st, 2015

Had I stopped to think about what I might be doing exactly a year later, as I was slicing lemons and strawberries in my kitchen and feeling L kick around in my belly, celebrating Down syndrome is not what I would've imagined. It is certainly not what I wanted to imagine. I may not have been entirely shocked if you had told me I would be aware that it was World Down Syndrome Day a year down the road, but I wouldn't have believed you if you had told me I would be celebrating it. 

You see, when I was 8 or 9 weeks pregnant, I had a dream. I dreamed that all of my friends and family were sitting in a row on a grassy embankment. I had my baby and held her in my arms and took her down the line to meet everyone. When I got to the end of the line, suddenly we were alone. I was standing under a young tree and cradling my baby in my arms. It was only then that I got a chance to look at her for myself. It was only then that I realized my baby was a girl and, upon closer inspection, that she had Down syndrome. I hugged her tighter and the dream was over.

Sounds crazy, right? Well not really, when you believe in a sovereign God who created the universe and gravity and a burning ball of gas that hangs in the sky and warms you up from millions of miles away. But whether you call it mother's intuition or premonition or divine intervention, the fact remains that this dream was a quite literal foreshadowing in my life. I do not like surprises and believe God was trying to prepare me.  In my natural and human fallibility, however, I chose not to listen and to let fear rule. 

Photo by Loren Gifford, photobyloren.com

Photo by Loren Gifford, photobyloren.com

There are many reasons I could give as to why I chose to forego genetic testing but the main reason was fear. I kept imagining the midwife calling me with what I would've then called 'bad' news. My subconscious decided that if I stayed positive and pushed those thoughts away, things would be fine. That if I ignored the nagging feeling that something was 'wrong', things would go according to plan, my plan. The dream, the small spot on her heart, the ultrasounds where I noticed her arms and legs were measuring just a little behind, my mom calling me and telling me that she kept seeing things about Down syndrome; there were plenty of signs. However, on March 21st 2015, I did not think Down syndrome was something to be celebrated. So though there were plenty of signs, I ignored them all. Down syndrome was not in my plans.

Photo by Loren Gifford, photobyloren.com  

Photo by Loren Gifford, photobyloren.com  

 

But Down syndrome was in God's plans, and because God is faithful, L has changed my life for the better. Because His thoughts are higher than my thoughts, and His ways are higher than my ways, March 21st isn't a random day to me anymore. Because His plan does not succumb to mine, today has meaning. In the past 10 months, I have met some of the strongest, most kindhearted, good, and generous people. I have come to see people with Down syndrome as superheroes. I have become a better person, and want to be an even better person. There have been days where L has cried and fought me through her exercises, days when I've seen kids younger than her doing things she can't do yet, hard days when I've felt sad, but even on those days I wouldn't change her. Even on those days, I still feel like I've been given a little glimpse of heaven here on earth, and am on the journey to leading the life I was meant to lead. Even on those days, I believe L's life has meaning and purpose and that she is and will continue thriving. Even on those days, I believe she is a light in a dark world, and that is all I ever prayed she would be. So today is a day for celebrating my little bean, and all of those born with a little something extra. It is a day to celebrate the people who love those with that little something extra. It is a day to celebrate the blessings that something extra has brought to my life and the true beauty that is found in what the world would deem as broken. God has taken this thing, this extra chromosome that I was so afraid of, and used it for my benefit, and truly for the benefit of the world if they would choose to recognize it. A year ago I did not think of celebrating Down syndrome, but today I am able not only to acknowledge World Down Syndrome Day, but to CELEBRATE the extraordinary. It is my hope that because of us, others will learn to celebrate it as well. 

 

World Down Syndrome Day is a global awareness day that is celebrated on March 21st every year. Down syndrome is caused by an extra 21st chromosome. Most people have 2. People with Down syndrome have 3. They have 3 21st chromosomes, 3.21. This is why March 21st is the chosen day.

 

8 Month Update

L is 8 months old. I can hardly believe it. We've experienced a lot of firsts over this 2/3 of a year, so I wanted to post a little update on her (by "little update" I, of course, mean BRAG).

Let's talk about those milestones.

At 13 days old, L rolled from belly to back for the first time. She did this for a few months, then took a break from it. I don't know if this is because her size outgrew her strength, or if she was focusing on building other skills, but I'm not concerned as she is back to rolling like a mad woman now. She began rolling from back to belly at 5.5 months. I think she could've done this a little earlier if I had worked on it with her sooner. She mastered it after I guided her through the motions a few times a day for a few days. This leads me to a point, don't assume your child can't do something. If given the opportunity, they will often times surprise you. Watching her roll from back to belly on her own was a kind of slap in the face. "All this talk about not letting society limit me, mom, and here you are doing it!" Anyway, she sure showed me. Gush. She is awesome.

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Onward with the physical accomplishments. The little bean is sitting up all by herself. I took her to a music and dance therapy class for children with special needs on Friday and she sat for almost the whole hour without a hitch. She was clapping and waving her arms, playing with shakers and castanets (yes, the class was very cute and she loved it). I sat behind her just in case, but she only needed my help back up a few times. She is also TRYING to crawl. She is not quite strong enough, but the girl has drive. She pushes up as high as she can on her arms during tummy time and tries her hardest to bring her knees under her to assume the quadruped position. Her arms wobble... She grunts... She strains... She yells out. If I close my eyes and listen, I could be made to believe there is a 250 lb body builder lifting a car in my living room floor. I think she will do it soon enough.

As far as physical therapy goes, right now we are focusing on building strength for crawling and getting in and out of the seated position by herself so she doesn't need me there to catch her if she falls out of the position.

So. Speech. For a while, she would make different consonant and vowel sounds and this throaty growl noise. I think the throaty sound may be common with Down syndrome. I don't know for certain so don't quote me on it, but I'm assuming that she makes the noise because it is easier for her to do than using the muscles it takes to make other vocal sounds. Regardless, she would do all these neat vocal tricks but not babble. I knew she COULD babble, but she just didn't. I told her developmental therapist I'd like to work on babbling, and naturally she started doing it almost immediately after. I think this was around 6 months old? I don't remember exactly. What I do remember is when she first did it. We were laying in my bed, and she had been making noises, cooing, and saying random one syllable sounds like always. I placed my finger on her chin and moved her jaw up and down, over and over. She looked a little confused at first, but then she started making an 'ahhh' sound. Because I was moving her jaw, it was coming out as "mamamababamama". You get the point. I guess she liked this new skill because she hasn't stopped since. She's got the babbling thing down pretty good now.

She also says "Hi!" and waves, and sometimes even puts the two together. And here is something. Since she was very small, maybe 3 or 4 months old, she has said "mom". Sometimes, I think she even knows what it means. She uses it when she gets frustrated. For example, when she starts getting tired of tummy time she will start fussing a little bit. She will fuss more, then louder, then finally she will shout out "mom!". I am in trouble.

Another thing we are working on is sign language. Because speech can be delayed in children with Down syndrome and children can learn to communicate with their hands earlier, it can be a helpful tool for your child to be able to express their needs to you through basic sign language. My plan is to introduce a few at a time, but focus on one specifically until she learns to use it consistently. Right now, we are focusing on the sign for the word "more", but we will be moving on soon because I think she is pretty consistent in using it. We also watch the Baby Signing Time dvds occasionally, but I feel like this is more a tool for me to learn signs at this point.

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She loves music. She can't get enough of the guitar. She loves to play patty cake (pat-a-cake?) and clap her hands, roll them up, and throw them in the pan, and it melts my heart into a puddle when she does the motions. To my supreme delight, she also loves to give kisses and hugs and snuggles, she sleeps through the night, and she is just the sweetest little thing I've ever had the pleasure of knowing. And yes, like any parent, I do have worries and I do get frustrated, and we do have off days where she is fussy. There are blow out diapers and she spits up in my hair from time to time, but I really can't get enough of her. I mean, just look at how cute she is!

Pictured here with her Grandma

Pictured here with her Grandma

When Down Syndrome becomes a Death Sentence

There I was, sitting at my mom's kitchen table, feeling overwhelmingly in love with and prideful of my daughter, forgetting for a while that most of the world would eliminate her if they had the chance. Then behold! An article shines across my news feed with the glare of a thousand interrogation lamps and I feel defensive and ready to present my case to the world. Rather than risk exploding into a ball of flame or being reduced into a puddle of tears, I feel a need to address the topic. I feel a need to flesh out my feelings in word form and send them into cyberspace. My purpose and hope is that someone may hear me before making a decision that will shape the rest of their lives, and may, at the very least, choose to make a more informed one.

The article, which you can read here, was published by The Telegraph and is titled Hundreds of babies could be saved after Down’s Syndrome blood test is approved for NHS. It is about a non-invasive prenatal test being celebrated as one of the best things to happen in prenatal care in years. While I think it is wonderful that this test does not pose a risk of miscarriage, the article fails to discuss a disturbing truth. It fails to mention that, though this testing may save hundreds of babies, it will endanger many as well. If you know me at all, you can probably guess that I am talking about babies who test positive for Down syndrome.

I have nothing against prenatal testing in and of itself. I do, however, have a bitterly strong distaste in my mouth for the way Down syndrome is being presented to women and their partners by medical professionals across the globe. I am deeply disturbed and saddened by the lack of up-to-date information given to those receiving a prenatal diagnosis. I find that in many cases, if not most, the scales are tipped greatly in favor of terminating rather than continuing a positive pregnancy.

One paragraph of this article in particular is so very telling. It says “Introducing NIPT {non-invasive prenatal testing} into NHS maternity care means that more women can be safely reassured about the health of their baby without having an invasive test which increases the risk of miscarriage. It also means that more woman and their partners will be given information that allows them to make choices about their pregnancy that are best for them.”

First of all, I resent the wording of "women can be safely reassured about the health of their baby...". Doctors will tell you that children with Down syndrome have a higher chance of developing leukemia than typical children. Do they also tell you that children with Down syndrome are much more likely to respond positively to chemo and to overcome leukemia? Do they also tell you that people with Down syndrome are less likely to develop other types of cancers, and that, because of this, the 21st chromosome is being studied in cancer research programs? My daughter may have an increased risk for certain types of medical problems, but they are treatable, and she is not "unhealthy." On the contrary, she is happy. She is sweet. She is loving. She is smart. She is beautiful. She brings light to everyone around her. She is indeed healthy. I will also add that, in my opinion, there is a form of health more important than physical health, and through her, God is making me truly healthy.

Secondly, I am greatly bothered by the sentence, "It also means that more women and their partners will be given information that allows them to make choices about their pregnancy that are best for them.”. All this is really saying to me is that, because the test has no risk for miscarriage, more people will choose to have the testing, thus allowing more people to abort their child in the case that they test positive for Down syndrome. Why not say, "It also means women and their partners will be given information that allows them to be more prepared for their child."? Or "It also means women and their partners will be given information that allows them to begin the process of helping their child to fulfill their greatest potential."? I feel as if this article is written under the assumption that all people want to rid themselves of a child with Down syndrome. Why is this the tone society takes? How many lives would be saved if articles like this assumed the opposite? If medical professionals took on a positive tone, if they met a diagnosis with updated information, with real life stories of how far Down syndrome has come in the last 50 years instead of hurriedly pushing for pregnancy termination, what a difference that would make! If they told families how much people with Down syndrome can achieve, if they required counseling and education before allowing such a life altering decision to be made, how much fear and devastation could be eradicated? The technology for prenatal testing is so quickly outpacing education/awareness of what life with Down syndrome truly looks like in this day and age. This is resulting in less and less live births which in turn is making it more and more difficult for Down syndrome advocates to spread education and awareness. It is a vicious cycle that feels like a losing battle. Sometimes I like to imagine myself on top of the world's tallest mountain with the world's largest megaphone shouting "Stop!".

I'm having a hard time understanding why we are focusing on the negative. If there was a prenatal test for character traits, would you be offered abortion because you found out your child may be less outgoing than you had originally hoped? A person with Down syndrome is more alike than different, and though they may be different in some ways, this does not mean their lives are any less valuable. So why are families being pushed to abort their children because there is a chance they have Down syndrome? Every second I spend with my daughter pulls me further and further from understanding this genocide. If I think about it too much, it has the potential to break me. The only way for me to be able to cope with this sad reality is to focus on educating others, to hope that our story can help make a positive difference to someone, and to cling to my faith that all will some day be made new. Down syndrome is not and should not be a death sentence. I can't even begin to imagine life without my daughter.

If your baby receives a prenatal diagnosis of Down syndrome, I encourage you to reach out to your local Down syndrome association. Talk to parents of children with Down syndrome. Find families on social media to follow. Watch videos on YouTube. Reach out to me if you'd like. Please gather all the real life information you can before making a decision.

 

 


Sources:
www.sciencedaily.com/releases/2009/05/090520140359.htm
www.m.webmd.com/children/news/20050201/down-syndrome-mutation-helps-leukemia-survival
www.telegraph.co.uk/news/health/news/12100309/Hundreds-of-babies-could-be-saved-after-Downs-syndrome-blood-test-is-approved-for-NHS.html

 

 

Born This Way

I have now watched the premiere of Born This Way three separate times. Each time was unique. Each time I liked it more and, I have to say, although I'm not normally a reality TV fan (OK, I'm a sucker for The Bachelor and all spin offs) I am officially on board with this show.

The first time I watched, I was in the floor with L doing what I like to call intentional playtime. All that really means is that I am guiding her playtime in order to teach her something or work on strengthening certain muscles. I wasn't giving it my full attention but there were certain things that struck me, the first being how much I found myself relating to the parents on the show. Particularly standing out to me was the part where Cristina's parents were remembering her mother's 'lowest moment'. She described being sad that she would never worry about Cristina's relationship with a boyfriend as her mother had done for her. She was moved to tears and then Cristina's father laughed at how that worry had proven to be useless and unfounded as, in fact, they did worry about Cristina's relationship with her boyfriend. I was also so impressed with the insight, maturity, and capability of these young adults with Down syndrome. They identified their emotions. They worked through their problems. If anything about them seemed different it was that, unlike most reality TV stars I've seen, they were unreservedly themselves, with no ulterior motives, or hidden agendas.

The second time I watched the show, I watched with a good friend and her teenage daughter, who does not have Down syndrome. Watching with them, I found myself being thankful that the show addressed some of those negative feelings the parents experienced, that it shined a light on some of the added worries that parents of children with Down syndrome go through. This is not because I want others to feel sorry for me, but because it is nice to feel understood. I was also glad that it showed the similarities. At one point, one of the fathers said the emotions of raising a child with Down syndrome are the same as raising a child without, but the timeline is different. This line in itself shows both sides of the journey, and I think by showing both sides of the journey, Born This Way will help build understanding. A lack of understanding can breed a lot of negatives like fear or anxiety. It can make parents who don't have experience with disability uncomfortable around parents who do. I'm convinced that by giving people a glimpse into their lives, the families on the show will help bridge the gap between parents of children with disabilities and parents of children without.

The third time, and last time (for now) that I watched the show, was with my husband and L. This time watching it, I simply felt grateful for my family. I found myself dreaming of the future. Dreaming about watching our lives unfold together. Dreaming about what L's interests might be, and about all of the mundane and profound experiences parenting her are surely going to bring.

Nothing too dramatic happens on that first episode, but the exciting part to me is that the show exists at all. It is my hope that it will relieve some of the fear and stigma associated with receiving a diagnosis, that it will leave new parents full of hope for their children, and that it will show the world that people with Down syndrome are not so different from everyone else.

How Down Syndrome Happens

Most people are probably not aware that there are three different types of Down syndrome. In fact, most people probably aren't exactly sure what Down syndrome is in the first place. To be brief, Down syndrome is a genetic condition which is caused by the presence of an extra chromosome in any or all cells of the human body. Specifically, it is caused by an added 21st chromosome. Typically a person is born with 46 chromosomes, 23 from the egg and 23 from the sperm. A person with Down syndrome has 47. The way this extra chromosome arrives and presents itself determines the type of Down syndrome a person has. It gets a little confusing but I will do my best to explain it clearly.

The type of Down syndrome L has is the most common, accounting for around 95% of babies with Down syndrome. It is called Trisomy 21, or Nondisjunction, and is decided before fertilization. It is set in motion during the division of the parent's sperm or egg cells. Typically a cell divides into two cells each containing 23 chromosomes. For T21 to occur, a cell divides into a pair of cells, one containing 22 chromosomes, and one containing 24. The cell containing 22 chromosomes cannot survive. However, the cell containing 24 chromosomes can survive.  This cell containing the triplicate 21st chromosome happens to fertilize or be fertilized, resulting in a person with Down syndrome. When this type of Down syndrome occurs, each cell in the baby's body contains an extra copy of the 21st chromosome.

The second most common type of Down syndrome, making up 4-5%, is called Translocation. Translocation Down syndrome occurs when the 21st chromosome, or a piece of the 21st chromosome, breaks off and adheres itself to another chromosome (usually the 14th chromosome). The person with Down syndrome in this case has the typical pair of 21st chromosomes, but also has a 21st chromosome (or in rare cases, a partial 21st chromosome) attached to another chromosome. This usually happens spontaneously during fertilization, although around 25% of the time it happens because one of the parents is a carrier. Being a carrier means that in your genetic makeup you have the typical amount of chromosomes, but two of them are stuck together. This won't affect you, but can cause Down syndrome in your child. This also means you have a higher chance than the rest of the population to have a baby with Down syndrome. If a baby has translocation Down syndrome, the parents may choose to get tested to see if one of them is a carrier.

The third and rarest form of Down syndrome is Mosaicism, or mosaic Down syndrome. In mosaic Down syndrome, only some of the cells have an extra copy of the 21st chromosome. Like Trisomy 21, mosaic Down syndrome is caused by uneven cell division. There are two different ways that mosaic Down syndrome can occur, however, and each are slightly different than Trisomy 21. The first way happens when a cell divides unevenly in the earliest stages after fertilization. This means that every cell stemming from the improper division will contain the extra 21st chromosome. Some cells, however, did divide evenly, so all cells stemming from those will contain only two 21st chromosomes. The other way that mosaic Down syndrome occurs begins like Trisomy 21, but during cell division one cell corrects itself and all cells stemming from the corrected cell will not have the extra copy of the 21st chromosome.

I was recently made aware that some people have the idea that Down syndrome has something to do with the health or habits of the parents before and/or during pregnancy. Hopefully with education we can eliminate this notion from people's minds. You can neither prevent, nor cause Down syndrome on your own. It is decided genetically before (or in the extremely early stages after) fertilization, before implantation has even occurred.

Most of this information I learned from a book called Babies with Down Syndrome: A New Parents' Guide, which I highly recommend.

 

A Quick Lesson on Therapists

When you have a child with developmental delays, chances are high that they are going to be seeing therapists. If you are picturing a couch and a nodding psychoanalyst you have the wrong idea. Although that may come into the picture at some point in any person's life, these are not the types of therapists I am talking about. With so many terms floating around, and not knowing much about any of them, I was a little confused and very overwhelmed when first trying to learn about these people who would soon be involved with my daughter. Once we got started, I realized it was not as confusing as I had originally thought. However, in the case that someone reading may still find themselves wondering who we see and why, allow me to explain.

For starters, there is the physical therapist, or PT. One of the main characteristics the extra chromosome can create is low muscle tone. Not to be confused with strength, muscle tone is defined as the muscle's degree of tension at rest or during a stretch. It is described here as "the inherent ability of the muscle to respond to a stretch." Children with hypotonia, or low muscle tone, are often called "floppy" because their muscles remain loose and limber, and, because of this hypotonia, children with Down syndrome are often delayed in motor skills.  The physical therapist will work with your child to improve strength, endurance, motor control, and gross motor skills (ie rolling over, sitting up, walking). Children learn from their environment and being mobile exposes them to new environments, so working on these larger movements is important for more than just physical development.

Related, and sometimes overlapping with the physical therapist, is the occupational therapist, or OT. The occupational therapist works to improve a child's ability to participate in the daily routines of life. This could mean working with the child on sensory issues, fine motor skills (ie grasping objects and holding onto objects; things that require the use of smaller muscles, as opposed to the larger movements of gross motor skills), hand-eye coordination, social skills. The OT will help with any number of things ranging from helping a child learn to feed or dress themselves, to improving on food aversions and attention span.

Then there is the speech and language pathologist. Low muscle tone can affect a child's ability to nurse and take a bottle. It can also cause a child to aspirate. This is why you may see children with Down syndrome sporting a feeding tube. (A side note here: Some doctors will tell you that breastfeeding a child with Down syndrome isn't possible. This is a blanket statement that is not always the case. L has pretty much exclusively breastfed since day one. I will talk more about this another day, but don't get discouraged if you have heard this, or are having a hard time breastfeeding. It takes work, but it is possible.) The speech pathologist will help with issues related to feeding and swallowing when the child is young. As they get older, the speech pathologist will help with speech and language development.

Last but not least is the developmental therapist.  Depending on what type of early intervention you are using, you may only see one therapist to start. The developmental therapist is knowledgeable in all fields and will help improve on anything you think your child needs to work on. At the Down syndrome clinic, we see the physical, occupational, and speech therapists a few times a year. Through Tennessee Early Intervention and the Susan Gray School, a developmental therapist comes to our home bi-monthly.

These therapists are all very important to a child's development, but the parent is the most important therapist of all. With your own research, and involvement with these professionals, you can learn how to work appropriately with your child on a daily basis in order to help them achieve their potential. I will add, however, that these programs are all voluntary. It is up to the parent to decide whether they want to involve their child in any of them, and how often to do so. It is important to choose those therapies and therapists that work well with your family and your child.

Click here to learn more about physical therapy, occupational therapy, and their differences. Click here to learn more about muscle tone vs muscle strength. Click here to learn more about developmental therapy.

Down Syndrome Diagnosis Network

Before my daughter was born I was worried. None of my closest friends had children and, with most of my friends, our usual communing was done between 7 pm and the wee hours of the morning. I knew things were about to change, and I wondered who I would find to relate to. This feeling was amplified when I realized that she had Down syndrome. Now, I thought, I could no longer relate even to the parents I did know. Of course this has since proven not to be the case. While there are certain things that parents of typical children won't fully understand, so far and for the most part, the daily ins and outs of parenting her are not a lot different than parenting a child without Down syndrome. There are those differences though, and for those I knew I needed to find someone to talk to. I needed someone to express my concerns to, to ask questions, and to generally commiserate with on all I had been through. It needed to be someone who I knew would fully understand. It had to be someone who had gone through the same thing.

Immediately after, and for a couple of months following L's birth, I was not brave enough or ready to reach out to anyone in the Down syndrome community in my area, though I knew I needed to relate to someone. As luck would have it, I had downloaded a pregnancy app months before that I knew had a community of pregnant women and mothers who used the app to talk daily with one another. Lying in bed one morning, I searched the app to see if there was a specific group of moms of children with Down syndrome. There was, and while looking around on it I saw a thread about a Facebook group I could join. This group would put me in a community of women who also had babies with Down syndrome that were all born around the same time as my daughter.


The group, founded by the Down Syndrome Diagnosis Network, was exactly what I needed. To find women who were at the same point in navigating their way through this new life of Down syndrome, give or take a few months, has been such a blessing. Anytime I have a question, whether it be related to L's health, or my own feelings in dealing with the diagnosis, or something as simple as toy recommendations, I know there is someone who can help. There is someone who has gone through the same thing, and has an answer. There are people to share her pictures with who I know truly see her for her, and know how beautiful she is. There are people to celebrate her achievements with who know how hard we worked for them. There is someone to offer support and someone to offer my support to, and supporting each other is so important, especially in the moments directly following a diagnosis.

The Down Syndrome Diagnosis Network gave me a place to grow. I believe that joining their community has been instrumental in helping me become more comfortable with L's diagnosis. It was a tremendous help in getting me through the rough patch that was the first couple of months after she was born. It, along with getting to know my daughter and time in general, has helped to give me the courage to reach out to the Down syndrome community around me. It has been an integral link in the process of transitioning from strictly online friendships to real life friendships as well, and it has benefited me with friendships across the globe that I would have never found otherwise.

The Down Syndrome Diagnosis Network offers more than Facebook groups. To find out more about them click here, or follow the links on my Down Syndrome Resources page.