Genetic disorder

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Lily turns 2! (Part two) “Results Are In”

“Down syndrome is only the background in our life, not the scenary.”

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Ahhh December. December is a month filled with magic and excitement. December has an energy to it unlike any other month. For me, December has always been extra special as it holds my birthday within it’ s calendar and now December holds Lily’s birthday as well. On December 2nd, Lily turned two! Yes, December is a beautiful month filled with blessings and memories but there is a darker side to December.

As joyous as a birthday celebration is,  there is another side to Lily turning two. Her turning two also means an onslaught of doctor appointments, tests and evaluations. December is when we must face Down syndrome head on.

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A brief recap of December’s past:

Dec 2011– Lily was born and we juggled being new parents with a preemie and Down syndrome diagnosis all at once.

Dec 2012– We were waiting to hear back if Lily had bone and/or liver disease as some of her test results came back abnormal.

And here we are Dec 2013-

Now before I come off as a negative, glass half empty type of person, let me say that as a parent to a child with Down syndrome, it is not really a matter of IF she will have some variance of  medical problem but rather WHEN and WHAT. So my reluctance and grim outlook on doctor appointments and test results is justified or at the very least, understandable. So off to her dr we go and off to face Down syndrome in its’ many forms…

Now contrary to what many may think, we do not actually talk about Down syndrome every day, we don’t really even think about it most days, and sometimes we even forget about it completely. As Lily is getting older, I admit it is harder to forget about DS but it still remains only a background setting to our lives, not our scenary.

So when the very first thing I must do at the dr is fill out a developmental form for average 2 year olds, I feel the all too familiar, icy feeling of Down syndrome coming into the forefront of my brain and slapping my conciousness around.  This time, I could harldly answer yes to any of the items listed. The only area I could answer yes in was in her problem solving skills. Although I am not blind, nor ignorant, I really had no idea just how behind (delayed) Lily is in her motors and communication. It stung.

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Next up was her regular pediatrician evaluation and discussion. I love her pediatrician and we always chat about the right course of action for Lily in her whole health. We made a plan and proceeded forth with the lab work.

Lily has had her blood drawn plenty of times and I am always in awe at how well she handles herself. She did not disappoint this time either. This time her brother Oz, now 5 months old, was with us and he was very unsettled by the experience. I got my first glimpse of what an amazing brother he is and will be- as Lily cried, he began yelling and even growling at the techs!

—Round One of appointments is done! Now we wait for the test results.—

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Next up, Lily meets with a developmental pediatrician. She is wonderful too and is helpful at looking at the overall picture of where Lily is and how she is doing. Since medically we are waiting test results, we focus more on development.

Lily isn’t walking.

Here is where I receive another little smack from Down syndrome. Lily’s left leg is severely weaker than her right. She is asymetrical. Her asymetry was more likely due to her being born early- the vascular connectors in her brain were not developed yet. In a typical child, they could overcome this quickly with just a little PT help. In a child with DS, it means she must now triple her efforts and it will be four times as hard for her to walk. 😦

Lily’s inability to walk stirs up all sorts of emotions within me. Some I prefer not to share and others I just don’t really understand. Will Lily walk? Yes, most likely. So why do I care that she can’t walk now? Well, I guess I am  just like every other parent, I hate that my child is delayed in something. I hate that she wants to do something but can’t. I hate that all of her friends can walk except for her. I hate putting on a happy face and agreeing that she will walk in her own time and yes, she is an excellent crawler. I hate that I feel this way at all. But I do. And now I hate that Down syndrome is officially creating a barrier for her.

So I pull up my boot straps and now we are going to PT 4 times a week as well as working harder at home. (This is in addition to Speech therapy 2 times a week) Holy crap.

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Now here is where my heart is lifted. Lily is currently testing right on time, if not a tiny bit advanced, in her cognitive skills. That means she is smart. Every parent wants to hear that, I needed to hear that. My daughter is an excellent problem solver and does beautifully in social situations and pretend play.  I am having an interesting experience of emotion as I write the paragraph above and then this one- a complexity of feelings are swirling around me and I feel completely emersed in the insanity of the happy/sad paradox I am in. Ain’t parenthood grand? 😉

As for the less dramatic but equally important information: Lily is speaking at a 12-15 month old level, she is only mildly behind in her fine motor (nothing anyone is concerned about) and advanced socially.

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So that is our plan for her developmental delays- more therapy! We can do that!

Back to the medical: Lily gets tested for thyroid every 6 months to a year. 60-70% of people with DS have a thyroid problem and take medication for it- we know several who already have begun treatment. Although it is not a guarentee that she will have it, it is likely. Every year she gets tested for Leukemia. Children with DS have a higher risk of having leukemia and that risk never goes away- she will have a CBC (blood count) done for the rest of her life. This time we requested she be tested for celiac disease too- it can be common with DS and she seems to get red cheeks after eating grains. (I read somewhere that that is a symptom).

Results are in!

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No Leukemia!!

No Celiac Disease!

Elevated TSH (Thyroid Producing Hormone)- but normal T2, T3 (thyroid hormones). This may or may not mean anything. We are now waiting on the Endocrinologist we saw last year to review the results and decide what he would like to do.

So basically- She’s HEALTHY!!! (Phew!)

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As I look at my little girl, I see so many things. I see big blue eyes, I see a fierce independent streak, I see a drive to accomplish whatever she sets her mind to, and I see an inner beauty that together with her outer beauty makes her quite striking and amazing. As she gets older, I also see Down syndrome. Down syndrome has shaped her eyes into an almond mold, made her ears and nose small, created smaller bones and a shorter stature, made her have to fight and struggle for everything she does, it is respsonsible for her inability to walk, created a frustration in her that is intense and stripped her of her confidence around groups of children.

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Down Syndrome is not who my daughter is, it is not a persoanlity trait, it is a barrier that holds my daughter back. Sometimes I imagine having a sword fight with Down syndrome. Although an intangible thing, it is my foe and it hurts my daughter.

I do not love Down syndrome. I am not grateful for Down syndrome. During the month of December, amongst all my joyous celebrations I also wage battle with an enemy.

A battle that Lily and I are determined to win everytime. Lily just turned two and she won this battle over Down syndrome!

Happy Birthday little girl, shade of my heart- you are healthy and beautiful and we love you so very much!

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DSAM Day 29: Disclaimer- Lily has Down syndrome

What is Normal?

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I recently heard a quote that, “Normal is just a setting on a dryer.” When I was in middle school I wanted to be normal. When I was in high school, I wanted to be different. As an adult I just want to be me.

One of the first things I learned from the Down syndrome community was how not to offend people by using the ‘wrong’ words. This is where I was told that the word normal is rude and offensive. The proper word to use when describing other children that did not have DS, was ‘typical’. The linguist in me immediately began analyzing what the words actually meant and which word was in fact more appropriate within the context I would refer to. The other part of me rolled my eyes.

I believe in educating people and being tolerant of those that differ from you in whatever way. I believe in being respectful. But I also realize that the majority of ‘typical’ people are not trying to be hurtful, degrading or intolerant when they misspeak.

I personally am not offended when people use the word, normal, to refer to children that do not have DS. When you ask someone what normal is most often they will laugh and say well nobody and nothing is really NORMAL. I still refer to other children as normal, knowing full well that there is no normal when it comes to humans or animals.

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I have noticed how difficult and awkward it is for people to ask questions and speak about Lily having DS. Most people seem so afraid that in their ignorance of DS, they will offend me and thus end up in an uncomfortable or embarrassing encounter so they look but don’t say anything or they speak around the topic. I believe there is merit in learning to lighten up a little- it is more important to me to normalize discussing DS then it is for people to use the correct terminology. I appreciate so much when people come up to me and ask does your daughter have DS? To me that gets rid of the stigma that Down syndrome is hush hush and something bad that we can’t ask about.

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In my almost 2 years of being Lily’s mom, I have learned that the more friendly and open I am about Lily, the more relaxed and forthcoming others are. When Lily and I are out and about, we are approached, often several times, by people wanting to extend their hellos to us and remark on what a doll Lily is. Sometimes they venture a comment regarding Down syndrome, sometimes not. I used to wonder if Lily received so much attention from strangers because they knew she had Down syndrome and were giving her ‘special’ treatment, Maybe they are and maybe they aren’t- Oz seems to generate quite a bit of attention for himself too- perhaps its because I have very happy, outgoing, and friendly children- who wouldn’t want to stop and enjoy a little of that? 🙂

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Now I am not saying that I do not sometimes feel offended or even hurt, I have days that I am much more sensitive about things than others. However, I return to the bigger picture. A world where Lily can evolve as herself, in the wide open, around all the ‘normal’ people without any hushed disclaimers.

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DSAM Day 28: A Silent Question Answered
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DSAM Day 28: A Silent Question Answered

A question I have never been asked (at least by those without a child with Down syndrome)–

What was it like to receive the diagnosis that our child will have Down syndrome?

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Most of you know me fairly well with regards to my attitude about Lily and Down syndrome. I have been complimented countless times on how strong I am and what a great attitude I have-  and yes I am strong and yes I do have a great attitude. But it wasn’t that way in the beginning……

At our 16 week ultrasound we found out we were having a little girl. Shortly after learning that, we also learned that she most likely had Down syndrome. Shortly after that we had to verbally tell our doctor that we did not want to terminate our daughter. Most know this story- what hardly anyone knows is what happened when we got home.

I don’t remember the drive home. When I got home I crumbled. I could barely walk, I couldn’t think past my emotions. I only knew and understood one thing: I am not killing my daughter- I want her so badly and we tried so hard. Like most people, I have my own personal relationship with God with its ups and downs, some moments more faith-filled than others. On my knees I asked Him, Why me? I don’t deserve this. Why my child? Those questions escalated into more of a How dare you? sort of flair. No need for me to go into more detail here – you all understand. When my declarations to God were over – I decided to do some research.

I will admit – the very first thing I did was google pictures of people with Down syndrome. Looking at some of the photos that popped up and reading about all the problems and especially reading the words, “mentally retarded”– I just died inside. I felt like all the air in the world was gone, someone had punched me in the gut and was now sitting on my chest. The world spun, and I couldn’t hang on- I wanted to wake up from this nightmare. I was trapped in an unfamiliar part of my mind and I was clawing my way back to a reality I had once known but no longer existed. There was no way out, no escape, nothing but unbridled, uncontrollable terror.

I began grieving for the child I thought I was going to have, I grieved for myself. I grieved for the baby I was carrying. I grieved for 3 days. I cried for 3 days. Then the tears dried up and I ended my silent treatment toward God.

I remember sitting and holding my belly and praying to God to let her be okay, let her be okay, let her be okay. I sought refuge in my prayer and comfort in my husband.

Then I forgot all about it. (yep, I really did). I continued on with my pregnancy without much thought toward her maybe having DS.

The day Lily was born was well, wow. The doctor told me right away that she looked like she had Down syndrome. As we waited for the chromosome test, I would stare at her trying to decide if she ‘looked’ like she had Downs or not. Some moments yes, others no. They explained to me the features they saw but it was hard to see.

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I was sitting in the NICU when 3 doctors, 2 nurses and a social worker entered our room. Lily was asleep in my arms, I was in heaven.  They told me the results were in and she does in fact have Down syndrome. The tears slid down my face before I could stop them. This time though, it was different. This time I could look at my daughter, feel her, hold her, breathe her in.

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I knew God had indeed answered my prayers, she was okay. Almost as soon as the tears began they ended. I no longer cared. I no longer feared. I just felt peaceful- I was a mommy. I had a little girl. She is perfect.

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Moments become Memories….

When Lily was still very much a baby, I had my first ‘unpleasant’ encounter with an elderly woman at a store. As Lily and I were scooting along in our cart enjoying a little shopping, we were stopped by a woman. She looked at Lily and mentioned how cute she was (not to brag but this happns all the time so I thought nothing of it). I stopped the cart and allowed the woman to meet Lily. Then she asked the most horrifying question:

“How long do they live?”

Life Expectancy for people with Down syndrome has increased dramatically over the decades. Due to advances in medical technology, their life span has grown from 9yrs. old (in 1910) to 25yrs. old (in 1983) to 60yrs. old today with several living well into their 70’s.

There are more than 400,000 people living with Down syndrome in the United States. More and more people are interacting with individuals with Down syndrome, increasing the need for widespread public education and awareness. No kidding, right? This woman really needed some education and maybe a little tact!

However, she reminded me of just how far we have come as a society. Only 40 years ago, things were so very different. Parents of children with Down syndrome were encouraged to send them off to an institution to live and told to forget about them. You rarely saw anyone with Down syndrome because thay were kept hidden away, like a shameful secret. If you have ever seen a paranormal or haunted show – they usually involve a mental institution, careless staff and extreme mistreatment of the individuals in their care. Let your imagination take you to that visual as thats where most individuals with Down syndrome ended up- forgotten.

Now shaking off that horrendous image, fast forward to today- today most everyone knows someone with special needs. You see people with Down syndrome working various jobs, having social and romantic relationships and living an independent life. I often reflect on this in a moment of prayer and am so grateful that Lily was born in todays world. Of course there is more to do, more awareness to offer but the world is so much better than it used to be.

No parent wants to discuss how long their child has to live. And frankly no one knows the answer! We hope as parents, that our children will outlive us, as that is the natural order of life but we cannot control life and death. We don’t get the final say in this matter.

One of my most favorite quotes states “Life is what happens to you when you’re busy making other plans.” – John Lennon. If you forget to live in the moment, you will miss the moment. Lily lives in the moment and because of her I am learning how. There is a surprising joy to each moment and I don’t want to miss any of it!

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DSAM Day 26: What I didn’t know I didn’t know

We, as humans, know what we know. We also know what we don’t know. But there is a vast array of things out there that we don’t know, we don’t know.

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Becoming a mother changed me. 

I didn’t know I didn’t know that being a mother would be the worst thing I could ever do to myself.

I am now capable of unspeakable thoughts. My mind has opened up a corner of indescribable fury. The very thought of anyone hurting a child, especially my own, sends my heart to this dark, once unknown place of wrath. I find myself equally mortified and pleased with my new found abilities. 

I have a never ending wealth of tears that bubble out of nowhere and fill oceans without breaking a sweat.

I can tap into a level of worry and anxiety that would intice the most veteran psychiatrists to dust off their research hats and sharpen their pencils.

I can experience fear so vivdly paralyzing that I can make my body go completely numb.

I didn’t know that I didn’t know what love is.

I didn’t know that I could fall in love with a person I had never met, never spoken to, never seen.

I didn’t know that I would be willing to die for someone I barely knew.

i didn’t know that I could be so vulnerable yet so brave for another person.

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I didn’t know I didn’t know God

I didn’t know that God could teach me how to endure pain in such a painless way.

I didn’t know that God trusted me to be a care taker to one of His most precious gifts.

I didn’t know that God had guided me on a path so intricately woven with blessings and magick.

I didn’t know I didn’t know that I always wanted to be Lilys’ mother

I didn’t know it would be so natural and so easy to become an advcate for my child.

I didn’t know that I wouldn’t care about my child’s diagnosis.

I didn’t know that even in the worst moments, I would tell God thank you for letting me be this little girls mother.

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I didn’t know I didn’t know about Down syndrome

I didn’t know that I could look at my daughter and not see Down syndrome.

I didn’t know I would feel lucky that my daughter ‘only has Down syndrome’.

I didn’t know I would forget she had Down syndrome.

Once you begin to learn the things that you didn’t know, you are forever altered, locked in a state of awareness that you can never truly turn away from. Since becoming a mother, I have awakened a whole new self and although I sometimes feel as though I live in a half-terrified state of mind, I can honestly say that my life is more vivd and whimsical and joyful than I could have imagined. Who knew?

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It’s All My Fault

It’s all my fault.

1 in almost 700 babies born in the United States have Down syndrome, the most common chromososmal condition.

In 90% of all nondisjunction trisonmy 21 cases, the extra chromosome comes from the egg, not the sperm.

My egg = My fault

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As the age of the mother increases, so does the chance of having a baby born with Down syndrome.

I  delivered Lily 13 days before my 35th birthday.  It’s my fault- I was older.

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Many decide to terminate their pregnancy when their baby is prenatally diagnosed with Down syndrome.

Lily was born December 2, 2011 because I chose not to end her life. It’s my fault she exists.

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Because of Lily, many women, men and children have been affected in a surprising and beautiful way. She leaves an imprint of joy and fearlessness on everyone who sees her. She is amazing, brave and boundless fun. She is a gift, a blessing. She is love.

And it’s ALL MY FAULT!

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What’s In A Name?

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As a biologist, I spent several years learning the names of things and more interestingly learning that most things are named after the people that discovered their existence. This made for some very tough spelling challenges along my academic path! When I first heard the reference, Down syndrome, I wondered why is called ‘Down’?

For centuries, people with Down syndrome have been alluded to in art, literature and science. It wasn’t until the late nineteenth century, however, that John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly work, published in 1866, that earned Down, the recognition as the “father” of the syndrome. Although other people had previously recognized the characteristics of the syndrome, it was Down who described the condition as a distinct and separate entity.

To say that Lily is a Down’s baby is actually incorrect- she is not Dr Down’s baby- she is all mine! J

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10 tiny fingers, 10 tiny toes, little ears and little nose….

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There are physical characteristics that can go along with Down Syndrome. Wider set eyes, lower set ears, shorter nasal bone, single crease on the palm, etc….are all identifying marks of DS. What you don’t see are the internal characteristics. These include smaller canals in the ears, small nasal passages and sinuses, higher than average palate, etc. This increases the chances of respiratory sickness in people with DS. They are more likely to get pneumonia, colds, bronchitis- those sorts of illnesses.

Lily has had pneumonia twice (once due to aspirating her milk) but has been extremely healthy otherwise. In February of last year, she failed her hearing test, missing the low tones. They discovered she had fluid in her ears which without tubes, would continue to build up and cause speech delays and even deafness. So we joined the ENT surgery club. Lily’s surgeon also wanted to remove her adenoids because it is very easy for them to block the ear canals creating trouble.

After much research (even outpatient surgery is not without risk) we prepared ourselves to allow our little girl to be put under anesthesia and have the tubes placed and the adenoids removed. We had been through so many scares with her that we weren’t necessarily scared but it is a little known fact that I have some control issues (I know, shocker!) and I had a very hard time just turning her over (passed out from the goofy juice) to a complete stranger. I am sure my friends that have had to endure so much more intense surgeries with their children are rolling their eyes at me right now but for that 20 minutes, I couldn’t even sit down I was so ready to run back to her! Lily did very well and was back to her normal self by that evening only now she could hear even better!

As she gets older, we begin to see her change from a baby to a little girl and that includes seeing the characteristics of Down syndrome emerge more and more. After she turned 1, people outside our circle began to ask if she had DS- at first I was taken aback. I wanted people to see her for her not just the DS. However, as I gaze at my daughter, I realize that her appearance is a beautiful blend of the DS traits and  us. I don’t think Lily is cute or pretty. I think she is stunningly beautiful. A truly unique masterpiece.

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Happiness Is….

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Happiness is a beautiful fall day and time off to enjoy it. Happiness is a hot cup of coffee, a great book and a comfy chair. Happiness is the birth of your children. Happiness for Lily is finding Elmo in the pages of her book, matching the right colors together, getting her puzzle piece to fit on the first try, hugging her friends and receiving one back, fitting all of her animals into her little toy barn, sneaking food to Molly when she thinks I am not looking.

Happiness is not Down Syndrome.

The most bizarre misconception about DS is that people with DS are always happy. I have lost count how many times I have heard this and most of the time it is the first thing people tell me about what they know of people with DS.

I will be honest, those of us with children that have DS find this to be most irritating. Speaking only for myself here, it feels like people are trying to give me a consolation prize. Almost to say that since you couldn’t win the ‘normal’ child at least they will always be happy and a joy for you. Whaaat????

What is really puzzling is to hear this from people who claim they used to work with people that have DS. There is no way someone who truly knows a person with DS can honestly think this. Unfortunately, DS does not give one super powers and does not alleviate the human condition of emotion.

Although I would love to spare my child the emotions of sadness, rejection, defeat, despair, heartache, etc, she wouldn’t be human without them and at the end of day, even people with Down syndrome are human. 🙂

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Fish are friends, not food!

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Okay so maybe some fish are food- especially in stick form 🙂

Since Lily was 4months old, I have been taking her to the Aquarium. She was fascinated with all the lights and the glow of the water in the tanks. Down syndrome affects the overall ‘tone’ of the body and people with Down syndrome have ‘low tone’. This doesn’t mean they are not strong or have muscles, just that the tone of those muscles is low which makes some of their muscular responses react slower.

For Lily, when transitioning from a light to dark environment, her pupils would get huge. This is something that happens to every child, but Lily’s pupils would linger a little longer than the norm. This made her look like a child in absolute wonder of the world. I would stop and just stare into her eyes, hoping to catch a little childhood wonderment myself.

Now, at almost two years old, she still adores the Aquarium and points to the fish and pets the turtles and peers deep into the glass with her baby blues to see the wonders of the ocean.