Yummy Barium milkshakes and Phillies games

For the past few weeks we've been on a quest to figure out why Sam hasn't gained any weight since November and has only grown a half of inch. We're currently in the middle of our second trip to CHOP to see if he has any major GI issues.

Having Down syndrome makes one more likely to have one of many diseases or syndromes that result in 'failure to thrive'. These are recent findings, and it is why many of the individuals with Down syndrome who are my peers are fairly short. For many years the medical community even used a separate growth chart for children with Down syndrome. Now fast forward to 2013, in 2011, the medical community within the NDSS (National Down Syndrome Society) recommend doctors stop using the Down syndrome growth charts and transition to the growth charts used for 'typical' children. So, now that my little guy isn't growing well we have A LOT of doctors appointments.

This is where being a parent of a child with a 'complex medical history' gets INSANE! It always surprises me how much I have to educate our Doctors. But, at least I'm a scientist, and I view life through the goggles of experiments.

First we checked them check easy stuff, his thyroid and Celiac tests came back negative... while we wouldn't want Sam to have either of those diseases, it would have given us the fast and 'easy' answer.

Hypothesis: Sam is not growing due to a hypothyroidism, or Celiac Disease. REFUTED

We had to move on, what about food allergies... so off to the allergist we went. For once, in little 'ole Corning we are fortunate enough to have a Doctor who did his residency at CHOP and even knows some of Sam's doctors. So, we check him to see if he's allergic to any foods, nope, no allergies, not even a small one... again, didn't really want a food allergy, but that would have been an 'easy' fix too...

Hypothesis: Sam is not growing due to a food allergy. REFUTED

So, off to CHOP. We are extremely fortunate that CHOP (Children's Hospital of Philadelphia) is in network. And well, when they're the best pediatric GI unit in the US, what's a four hour drive! Our first appointment, basically just resulted in a list of tests. Our biggest concern was that he has an undiagnosed small intestinal web. The ordered test is an upper GI xray.

And that is why we are here in Philly today, to drink a barium milkshake and take pictures of Sam's insides. The good news is, we were in and out in less than two hours, and we found out Sam will drink anything if it's chocolate. The most upset he was the entire time was when we took his barium milkshake away! The good news is at first glance, Sam's plumbing is fully operational, no surgery.

Hypothesis: Sam is not growing due to a malformed small intestine. REFUTED

So, where does that leave us... I honestly don't know, a part of me hopes we just made a big to do about nothing. This mom is going to try to not worry and soak up a few glories innings of the Phillies, and the chorus of whoa's coming from her toddlers.

Hypothesis: 1) Mommy worries too much about Sam. CONFIRMED
                  2) Mommy's short so Sam's short. More data needed!

Thanks for reading my ramblings.

Running on E...

Any new parent knows having children is an exhausting and extremely rewarding experience.  Having a child with a disability just exacerbates the frequency and amplitude of these emotions. Oh boy already it looks like there is going to be a good deal of alteration in this blog post. Read on only if you dare!

As I've gotten more involved with advocating for individuals with disabilities, I am constantly bombarded with amazing stories of individuals whom society has labeled unable, overcoming the odds, and seeing the worst of humanity. These emotional peaks and valleys are probably the hardest part of being and advocate. Each reward is an inspiration to keep going, and every heartbreaking story kindles the fire in your soul. However, to a woman who works in a highly logical male dominated field, where I have diligently worked on my 'poker face' and keeping my emotions level, this oscillating wave of emotion is enough to drive one batty. I have come to realize I need to blog more regularly, I need to process this information, and I need to share the injustice that exists so profoundly in the 'disabled' community.

I need to let you all know about what  Down syndrome is and what it isn't, we can start valuing all people no matter their perceived ability or inability.

Let's start with the appalling news:
Please educate yourself on the death of a young man Ethan Saylor. This young man died in the hands of the police, who were trying to 'calm him down' and ended up suffocating him. To read more please visit the NDSS website.

I like what the NDSS has to say in response:
'It is vitally important that professionals in law enforcement and first responders understand the nature of Down syndrome as a genetic condition, the medical and behavioral cues they can look for, and safe ways to avoid conflict and harm – so that people with Down syndrome can be treated with the respect that they deserve and that we demand.'

People so often assume that individuals with Down syndrome are 'stupid' and don't understand, when in reality they usually just need a little extra time to respond. Patronizing individuals with Down syndrome only makes the situation worse. Visit Sproutfilms.org to see many films made by individuals with Down syndrome address this issue of independance.

Now for some awesome headlines! This past month there have been two amazing stories of individuals with Down syndrome succeeding in our education system. First I'd like to recognize Jamie Roland of West Hartford, CT who maintains a 3.6 GPA and has become the first individual with Down syndrome to be inducted in to the National Honors Society! Look how far we've come in MY lifetime. When I was born, it was thought individuals with Down syndrome could never be taught to read or write!

Secondly, Karen Gaffeny becomes the first living person with Down syndrome to receive an honorary doctorate. She can swim across the English channel, can you?

Each day I learn new and amazing accomplishments by individuals with Down syndrome, whose parents, teachers, and care givers have refused to accept the accepted role of individuals with intellectual disability . It is my job to share them with you, so we can see start seeing the unjust attitude that so permeates our society and allows for it to be acceptable to perform eugenics on our true x-men.

What is Healthy?

As I sit here sniffling and sneezing after a week of Coraline having croup and a double ear infection, I've been thinking a lot about what it means to be 'healthy' and prenatal testing. There is an irony around Sam regularly being the healthiest member of our family. Seriously this boy has an immune system of steal! Since coming home from the NICU, and his initial bout of pneumonia (due to low tone and acid reflux) Sam has never had a fever, never had an ear infection, and never been on antibiotic.

Reflecting back to what was said (verbally, and through advertisement) while I was pregnant...  prenatal tests (screenings and diagnosis) are presented as a way to make sure your 'baby is healthy'. But, I think what is not said is profoundly more important. What is implied is if these tests come back 'positive' that your baby is not healthy. The truth about the test results is all it actually means is your baby is just different, it's not broken, or sick, just different.

I think (well at least I'm going to choose to see the glass half full on this one) the true development of prenatal diagnosis was get the unborn baby as much help as possible following birth, if something potentially life threatening was discovered. Unfortunately, due the fear of being different and the ignorance of the medical community (Not intended to insult my friends in the medical community, I'm not talking about you!), prenatal testing in its current use and form is eugenics.

The more I reflect on the current usage of prenatal testing, I can't help but start seeing my glass as half empty, I have a nagging fear that the Star Trek story may have gotten something right about eugenics and humanity. I fear that humanity, at its core, is too arrogant, vain, and obsessed with intelligence and power, to not abuse the knowledge that is gained through genetic testing and the mapping of the human genome. It scares me to think of a future where the human race is being designed around the fickle hearts of man and his 'infinite wisdom'.

 This gets back to the purpose of this blog, not to give me a soap box to rant from, but to help break down incorrect stereotypes about Down syndrome. Having Down syndrome does not mean a baby is not healthy.

Sam wishing we weren't all sick, so we could play!

He said what!?

One of the hardest things about having a child with Down syndrome is un-talked about desire to remove individuals with Down syndrome from society. This post is inspired by a politician running for office in the UK. In his manifesto, he states he thinks there should be mandatory abortion for all fetus’s with Down syndrome, cerebral palsy and other genetic disabilities that can be identified in utero. Statements like this are horrifying for two reasons.

There is major misinformation out there about prenatal screening and diagnostic procedures for Down syndrome. First of all screenings are the ONLY tests that do not carry with them spontaneous abortion as a result of the test.  The accuracy of these screenings range from 80 to 99.8% and can result in both false positives and false negatives.  

There is no test that can 100% predict the presence or absence of Down syndrome. Amniocenteses and chorionic villus sampling bring with them a minimum risk of 1% chance of spontaneous abortion. So, since I’m an engineer we’re going to do a little math. If everyone was required to have prenatal diagnosis and approximate number of babies born worldwide is 130 Million, 1% of this number is 1.3 Million. So, just due to being required to have a diagnostic test would result in the death of 1.3 Million babies! In addition, 1 in 690 babies in the US are born with down syndrome (note the number would be even higher if they were not aborted upon a ‘positive’ diagnosis). That would be another 190 thousand babies who would not be born because they had down syndrome. So, we’d be killing 1.3 Million healthy babies, to eliminate another .2 Million people.

The thing that bothers me about this whole argument is the common view that people with disabilities are less human, less worthy than ‘typical’ people. While not everyone says it as bluntly as Geoffrey Clark does, the laws, actions of individuals say it very clearly, individuals with disability are not worthy of the same rights in life or right to life as a ‘typical’ human.

I am regularly infuriated by the social acceptance of these polices. Did you know an individual with a disability in the US can only have $2000 to their name or they lose their health insurance and SSI. The group as an unemployment rate of 75% in the US. They can be paid significantly less than minimum wage, like, $1 an hour! The sad thing is their work is considered lower than other peoples work. However, I think we can all think of jobs of where we work, that work output would be significantly improved if the person doing them was very good at doing 3 or 4 things very well. Instead of seeing this as an asset, employers look at this as a handicap, and regularly employ ‘typical’ individuals, who when asked to do a simple repetitive task, get distracted by Facebook, gossip, etc, do the job inefficiently, poorly and constantly trying to move beyond the position. To me it makes good business sense to employee individuals with the correct skill sets, regardless of a perceived ‘disability’.

Finally, a note to parents of typical children of a couple things NOT to say to someone who has a child with a disability. I’ve included some cliff notes on what you’re actually saying to the parent. The sad thing is, I’ve actually had people say this stuff to me. Note it’s not a compliment, they’re insults.

1)      Wow, I would have not been able to make the same decision you did, if I knew my child had Down syndrome.

Cliff Note: If your child was my child I would have killed them, literally. People with disabilities shouldn’t live.

2)      I don’t know if I could handle having a child with a disability.

Cliff Note: Your life is insanely difficult, and miserable.

Thanksgiving

A year that includes your children coming home from the NICU, and your neighbors house blowing up 5 days before you close your sale (and still ended up closing the deal!) results in numerous reasons to be thankful. I won't leave you with a list of our many blessings, I'll only pick one, one thing I've never knew existed before this year.

I am very thankful to be part of the community of families that have disabled children. I'm thankful for the warm smiles from strangers that I pass. Smiles that say, it's going to be okay, you can do it! I'm thankful for conversations with strangers, where there is a fundamental common bond. I'm grateful when people make a big fuss over Sam and ignore Coraline (who is t he one who usually gets all the attention).

This year the invisible has become visible, I am grateful for new friends I have made, and people I no longer over look. Happy Thanksgiving everyone!

Mommy Milestone

The journey of parenthood is full of many milestones, just like childhood development. My husband and I regularly joke that we're leveling up and often celebrate when we feel we have acquired ‘advanced’ parenting skills! For example, when we first started changing diapers we were sooooo slow, we’d make sure everything was done perfect, if you told me a year later I'd know how to diaper a baby that was crawling away from me, I would have looked at you like a deer in headlights, unable to comprehend how that is even possible.

Well, last week I hit another parent milestone, I was on Facebook looking at some beautiful pictures of my friends son, and I thought to myself, he’s really a beautiful baby, but the poor mom, she just isn't lucky enough to a have a son with Down syndrome. It was the first time EVER that I had seen myself as truly fortunate to be on this journey. It was such a freeing moment, no jealousy, no self-pity...

I will not declare that this has been an easy battle in my head, nor that those feelings are gone for good. We all have our good days and bad days and see the grass greener on the other side. We live society our culture values three things, beauty, intelligence and money.

As parents we get so caught up in babies milestones, we are a culture that obsesses about 'success'. I dare say we worship success. 

Society has taught many of us out there in highly technical fields, our worth to society is our intellect.  I have to admit that I associated an individual’s worth to their intelligence and since becoming a mother of a son with Down syndrome I have learned the error of my former thinking.

My challenge to many of you (and mostly myself!) is to be aware of these milestones, but not to obsess over them, or compare your child to other kids.  Enjoy children for the individuals that they are, pay attention to where they excel, encourage them to work in areas they need to improve. Take joy in every milestone, don’t waste your energy worrying about those milestones yet met. Being ‘slow’ at something isn’t a big deal, it just makes you human. Now… I’ll let you know when Mommy reaches this milestone!

Out of Beta

On the urging of some friends, and a deep desire to educate and advocate for my son Samuel, who has Trisomy-21 (aka Down syndrome) I am starting this blog journey. The past 12 months have been a year of firsts, many of which I would not like to repeat and many wonderful new adventures.

I was inspired to name this blog Profundity, after consistently being told individuals with Downs syndrome, are 'just such happy people.' While everyone meant well, this was not a comforting thought to this new parent, I didn't want my child to just simply be happy. I want them to be a complex individual with a full range of emotion, to be able to experience life in all its fullness, but also in all its struggles. There is something glorious and innately human about struggling, persevering, and accomplishing. 

What I have come to realize is societies view of individual’s with Downs syndrome was so one-dimensional, not to be judgmental, I was there just a short year ago. The mission of this blog is to capture the adventures of the Ashton family and show the world that life with Down syndrome, while happy, is full and profound.