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

 

 

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.