Thoughts on Hurricane Sandy

Oh Bother.

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A Wordy Word about Down Syndrome

So what is this Down Syndrome business all about anyway?

Jacob's genetic makeup is defined by the medical community as Trisomy 21, more commonly known as Down Syndrome (note: not Down's Syndrome).  Down Syndrome is a chromosomal condition in which a person has 47 chromosomes instead of 46.  It is  named for John Langdon Down, an English physician who first described/categorized the characteristics of the condition in 1866 although at the time he had no idea the cause - that wouldn't be figured out until 1959.

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BIOLOGY REFRESHER...
Most of us have 23 pairs of chromosomes. We get 23 from our biological mom and 23 from our biological dad, giving us 46 total. Scientists that study these things have numbered those pairs 1 thru 22, with the 'final' 23rd pair being the sex chromosomes (XY). For Jacob and others with Trisomy 21 the 21st pair of genetic material has an extra chromosome so that there are three instead of two, giving him a grand total of 47.


Disclaimer: Not Jacob's actual chromosomes - Image credits to noahsdad.com

[Science geek sidebar…  When numbering these pairs, scientists intended to number them sequentially in order of quantity of genetic material. So the pair with the motherload (and it really is the motherload) of genetic information was identified as the 1^st pair and the pair with the least amount of genetic material, the 22^nd (remember chromosome 23 simply determines sex).  Turns out they screwed up with 21 and 22 and they now know the 21st is actually the smallest chromosome containing the least amount.  But don’t hang your hat on that either – this field is discovering new things literally every day and you never know what they will “now know” tomorrow!].

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We don't think that Jacob having Down Syndrome is news to anyone but at the same time we don't tend to focus on it that much either. (Until recently we hadn't realized that it wasn’t even mentioned on the blog).  It's not because we don't like to talk about it or have some sensitivity about it. Not at all! It's more because for us it's not all that important. That extra little chromosome is not who he is, it's simply something he has. Truthfully, we often forget about it and/or just don't think to mention it. The thing is for us as parents, he's just our little boy.

But here we are October! 

October is Down Syndrome awareness month. We are rapidly becoming experts about something we didn't know much of anything about before Jacob was born. It would be remiss for us to not share the goods. Not only to satisfy curiosity but to maybe allay any fear of the unknown.

• First and foremost. Jacob is fine. Down Syndrome is not a disease and Jacob is not suffering from it. Unless of course someone out there thinks *this* is suffering.

• “Syndrome” can sound like a scary word but this is really just a word the medical world uses to describe something that produces a recognizable pattern of symptoms (this is what Dr. Down did when he first described these traits).
• Yes, we can probably blame that extra chromosome for many of the medical issues Jacob has had over the last year - although not directly. His challenges with swallowing properly, reflux, low muscle tone, infantile spasms, and the congenital heart defect can all happen in children with typical chromosomes but the incident rate (and sometimes severity) is higher in the down syndrome population. Why? nobody knows. There is a laundry list of medical issues in this higher incident rate category. It doesn't mean they are common for people with down syndrome or that Jacob will develop all of them, only that the percentage of occurrence is higher. As a result the approach is to do more testing - all in the name of early diagnosis and early intervention.
• It's the reason Jacob has seen more specialists in the first year of his life than his parents have seen in our entire lives combined. We would call this a mixed blessing. On the one hand, yes, it is a lot to manage sometimes. On the other hand, those specialists exist (!) ...and while sometimes scary and unknown to us - this stuff is a walk in the park for them. Thank. Goodness. Praises to modern medicine and the smart people who practice it!
• Good advice we received in the hospital when Jacob was born: Don't read anything more than five years old.  Sure there's good stuff that was written previously but it is a point well taken.  Medical advances as well as approaches in therapy and education are changing rapidly to improve the quality of life of those with Down Syndrome.  The world Jacob will grow up in is very different than the trail blazers of generations before him.

• Back to early intervention. Jacob is a busy little boy. All of the therapy that Jacob receives - right now physical and occupational therapy in addition to speech and special instruction - is all about early intervention... to give him the best boost of a start as possible. An awesome little leg up. Leg up for what? Ah... keep reading...

• Often asked: How severe is it? There is no severity scale for down syndrome. You either have it or you don't*. The slightly tweaked genetic makeup results (for reasons not completely understood) in some degree of learning challenges and delayed physical, mental and social development. This is expressed differently in every individual and there is no predictive measure for how it will impact Jacob's life specifically. We do know that Jacob will be able to do most if not all of the things his peers do growing up, it may just take more time and more work for him to do them. (Except for maybe math because let's face it, challenged math skills of a child of two engineers still may be better math skills than average. No?).
• So down syndrome may affect the trajectory of Jacob's developmental path but it will not be the determining factor in the ultimate height of that trajectory. Jacob will be - Jacob's determination and Jacob's hard work.
• Helps to remember two things:
1. Jacob may have an extra chromosome but it's still all his parent’s genes. Sorry Jacob, that's one extra dork gene from one of us.
2. The snowflake exercise in elementary school (millions of variations - no two the same - each unique - just like people - etc) ....that still applies to people with down syndrome. There are as many variations of capabilities and talents in people with down syndrome as there are with any of the rest of us.  While there are some commonalities, there isn't a single characteristic that ALL people with down syndrome have.  It doesn't work like that. This can make it very tricky to think about - easy to make an erroneous assumption that a trait or characteristic is a result of Trisomy 21 - when it may just be a trait that is within the range of possible variations of any other human being. Or is that one in the same…?  Hmmmmm….    

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Also. Best to remember like with all children, intellectual and social skills are maximized when they are surrounded by a loving and supporting family environment.

Check!

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This is how Jacob's parents think about this. Down syndrome does not impact or impede the really important stuff. You know.... the real dreams (hopes and worries) we have for Jacob and I think  that everyone has for their children. That Jacob will grow up to be a good, thoughtful and kind person. That he will love and be loved. That he will seek and find purpose. That he will be happy.

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What else?

Feel free to ask! We love talking about Jacob (of course). And anyone who knows us well knows that we love talking about new and interesting information we've come across (especially Cliffy). We have learned a lot in the last year and are still learning every day. If you are curious about something related to Down Syndrome, don't hesitate to ask. We would love to talk about what we know. We're all about it.

OTHER STUFF

This post is already too wordy so here are some links for anyone hungry for more information.

• Down Syndrome Awareness - How to Get Involved
• If you have children and want to know how to start the conversation about celebrating differences, this is an adorable video
• If you haven't had much exposure to individuals with down syndrome, watch this - but fair warning - you will be moved:  Dreams  (sorry this one doesn't work on some mobile devices, you will have to view on the computer)
• Language is important! Avoid sounding unsophisticated about Down Syndrome with these tips - Down Syndrome Language Guide
• New York times article about one realm of current research and the lab mouse (yes there is a lab mouse with down syndrome!):  A Father's Search for a Drug for Down Syndrome

Favorite Blogs

• This one is chock-full of great down syndrome info and also a super cute little boy Noah: Noah's Dad
• There are no words for how funny and awesome I think this one is, these people are my heros:  Pudge and Biggs
• A bit mushy for me but the quality of the writing and photography makes it well worth it: Enjoying the Small Things

Potpourri of recent celebrity fanfare:

George Will's recent op-Ed about his son: Jon Will's Gift

Quincy Jones, who knew?  Global Down Syndrome Foundation International Spokesperson

Jamie Foxx's sister: 2011 Ambassador DeOndra Dixon

Glee! Actors Raise Awareness about Down Syndrome

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* To clarify.... There are technically three forms of down syndrome.  The one we described here is the garden variety version that almost everyone with down syndrome has (including Jacob).  The other two forms are rare and are described here by someone much more capable and knowledgeable than us.

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Random disclaimer:  We are not medical professionals,  we are parents.  Smart ones, yes, but still just parents.  The information above includes layman's terms, paraphrasing, and our general perspective/interpretation.  e.g. Do not use this information for the basis of a term paper.   That would be crazy.

Growth Spurt

We went through three pairs of pajamas last night that were suddenly too small before we found a pair that fit.

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Proof in the #'s. Two weeks ago at a Dr's appointment, Jacob was 29 inches long. At the pediatrician's yesterday - 30.25 inches. 1.25 inches in two weeks!

 

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Schlopp, Schlopp, Beautiful Schlopp

Beautiful Schlopp with a Cherry on Top - Dr Seuss

Well, not exactly.

Last week (er...two weeks ago) we had a couple eating/food related appointments.

Guac - huge hit.
*And* it comes with toy chips to play with!

On the eating front - we are supposed to keep practicing. Per Doc, a follow-up swallow study requires three bites.... in a row.... consistently. Yeah.... we're not there yet. We are doing great...we can definitely get excited about food and stick our tongue out and lick our lips and get stuff in and swallow (!) including a good bite here and there. But repetitively and with any consistency? Um... not so much. So we will keep practicing.

On to the Schlopp!

This is shocking news but studies are starting to show that it helps in retraining little tube fed bodies how to eat (the physiological part... stomachs filling, emptying, appetite inducing, good brain/body joojoo, etc.) - if you give them real food. Say whaaaaat!?! Real food? You don't say.

Well, we are certainly up for implementing the obvious. We met with the nutritionist and are now armed with recipes and instructions for mixing up a daily concoction of goo that we shove (not an exaggeration) thru the tube slowly.

Clarification: No, coffee (shown in pic) is not part of the recipe. Yes, puréed veggie and fruit (not shown) is. Molasses or honey provides the carb, baby oatmeal the fiber, yogurt the dairy, baby meat the protein (haven't attempted to purée meat at home), oil for the fat and formula is the base-ish/liquidy part.

Not a wholesale change yet...we are still transitioning. We are up to three of the five 'meals' per day being real food. So far so good. Jacob seems to be spitting up less and also seems to have more energy. And also likes not being tied to the pump for an hour at a time. We are making all kinds of mistakes learning how to do it but that mostly involves puddles of goo ending up somewhere other than his stomach. Our clothes and furniture will survive.

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Foto Fabulous Friday

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Awareness

Hellloooo October.

October is Down Syndrome Awareness month. So you know... Be Aware or Be Square. Totally.

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