Understanding the Spectrum of Down Syndrome and What We Can Do Now
Including Gwendolyn performing "I Am Beautiful" in commemoration of DS Day!
It seems easy these days to categorize people and assume they are all the same, they act the same, think the same, suffer the same. This is applied to gender, race, ethnic origin, even political affiliation, and yes, to Down syndrome.
This is a very unfortunate and inaccurate approach for any of these groups as it subverts individuality and the unique strengths, challenges, and approaches that can best apply to each person.
This certainly applies to people with Down syndrome as well. Many in the broader community and often those in the Down syndrome community including some parents, teachers, and even doctors, often assume people with Down syndrome are the same. You either have Down syndrome or you don't.
But as many of us discover as we learn as parents of babies, toddlers, teens, and adults with Down syndrome, there is a rather broad spectrum that doesn't necessarily conform to the stereotypical definition:
Physical features: flattened faces, almond-shaped eyes, short necks, small ears, disproportionately large tongue, poor muscle tone, shorter height.
Medical issues: heart defects, ear infections, eye diseases, obstructive sleep apnea, hearing loss, GI defects, immune disorders, obesity, leukemia, dementia, and endocrine/thyroid disorders.
Intellectual disabilities: range from mild to severe with most mild/moderate. Many children and adults speak, read, and do the math for instance while some do not.
Personalities: social, confidence, music and dance lovers, computer gurus, introversion/extroversion, and more...
Our daughter has some but not all of these characteristics. We all can see a wide variety within the community we associate with regularly. This is really no different than the broad spectrum of the rest of society. But many of us assumed a prototypical definition including disabilities and future capabilities when our child with Down syndrome was born.
Why Such a Broad Spectrum?
As we know, Down syndrome occurs because a baby has an extra partial or full 21st chromosome. Did you know there are 3 types of Down syndrome? For most (95%), that extra chromosome resides on the 21st chromosome pair while for about 3% it resides on a different chromosome pair (translocation Down syndrome) and for about 2% the extra chromosome exists only on some 21st chromosome pairings (mosaicism).
The 21st chromosome has 300-500 genes associated with it, each contributing to some degree to the characteristics of Down syndrome noted above.
The Future of DS Research
Down syndrome used to be one of the most heavily funded genetic disorders but since 2001 funding has shrunk considerably and recently Down syndrome became the least funded genetic disorder. The National Institute of Health (NIH) is working to correct this situation. Research is growing within the Down syndrome community, especially regarding Alzheimer's which is associated with the 21st chromosome. Much will be mapped and learned in the years ahead to help treat and possibly even prevent Down syndrome.
Understanding which 21st chromosome genes may affect common characteristics (especially medical conditions and intellectual disabilities) will help predict, assess, and treat these conditions in the future. We should also remember that people are made up of 23 pairs of chromosomes, so many characteristics, perhaps most especially personality, are derived in large part from the other 22 chromosome pairs, just like all the rest of us!
So What Can We Do in the Meantime?
No need to just wait for future research findings as much research has already highlighted the path. These steps have proven to develop people with Down syndrome further, increasing their life expectancy and quality of life considerably:
Love & Care: it is easy to get wrapped up in what is different about our kids or adults with Down syndrome, but from day one lavishing them with love is the best way to get them off to a solid start and fulfilling life.
Educated Medical Care: this includes routine checkups but it's especially important to work with professionals that are up to date with current medical conditions and practices for people with Down syndrome. It is helpful to familiarize yourself, your doctors, and teachers with the Global Down Syndrome Foundation's Medical Care Guidelines for Adults with Down Syndrome.
Start Early!: from the earliest days and weeks, your child is eligible for physical, occupational, and speech therapy and then for early childhood education even before kindergarten.
Be Aware!: learn your legal rights, especially regarding educational support in public schools and the financial resources available to you and your child. I shared some critical items in a recent post. Your local Down syndrome association is a great resource to make sense of the huge amount of information.
Treat them the Same!: give them the same opportunities and responsibilities as their siblings. They may need assistance but they will not benefit from others doing tasks for them. Set them up for independence from the earliest age.
Make them the Center: practice Person-Centered Planning by including your loved one with Down syndrome in discussions about them - mainstream vs. special needs classes, work opportunities, independent living choices... Their dreams should be our dreams!
Find the Resources: there are LOTS of resources for your child and you throughout their life cycle. As adults, they need you to find resources to help them find post-high school programs (college, work, quality day programs). When public schooling is complete (at age 18-21), information is not as forthcoming. Yet there are many public programs to help as well as friends and DS associations. You'll need to roll up your sleeve and find the information to plan their next stage of life. At the UPLifting Guidelines Project and BeyondDownSyndrome.net, our aim is to provide more information, especially for adults with Down syndrome and their families. You can help us provide the information that makes a difference for you through our survey!
Reaching Beyond Down Syndrome
Regardless of the type of Down syndrome or the condition of the hundreds of genes on the 21st chromosome, there are many ways to give our children the best opportunities. Like us all, sometimes our genetic makeup limits some of our skills or potential (I will never play in the NBA or be a rocket scientist), but we should never stop our efforts because they will always make a difference.
People with Down syndrome walk and run, read and write, take public transport and drive, live independently and get married, and go to college and work. They are as strong and diverse as any group of people.
We should always encourage our adults with Down syndrome by ensuring we all go Beyond Down syndrome - learn, advocate, and love!
This posting series is intended to share information, especially for adults with Down syndrome. If you find it helpful, please SHARE this post, check out our other articles, join our subscriber's list, and take our quick and confidential survey below!
Thanks and see you next month!
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The UPLifting Guidebook Project is gathering information from parents, doctors, living facilities, and individuals with Down syndrome so we can help in your journey.
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