Genetic Disease


World Down Syndrome Day: What an Extra Chromosome Means

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As a coach with Special Olympics, I’m lucky to know a number of kids (and a few adults from other times in my life) who live with Down Syndrome. Down Syndrome [DS] is a genetic condition that results in an extra copy of chromosome 21—for this reason, Dodifferent coloured chromosomeswn Syndrome is sometimes referred to as Trisomy 21—three chromosomes instead of just 2.
In the UK, 1 in 1000 people will be born with Down syndrome. [1] Down syndrome is not a disease, and while it can affect both the body and the brain (primarily the thought processes associated with learning). In the past, people with Down Syndrome did not have as long life expectancies as they do now, but Down Syndrome UK reports that most people with Down Syndrome live to their 50s or 60s, and some even into their 70s. [1]
Each person with Down Syndrome is different, and there is no “personality type” that people with DS automatically have—while people often think people with DS are always happy or smiling, of course this is not always the case! Think of the people around you who do not have DS—the majority of them are probably happy a lot of the time too, aren’t they? People with DS can have decreased intelligence in some cases, but all people with Down Syndrome have strengths that simply need to be brought out—sometimes, people with DS are of average (or above average!) intelligence, which is why it is always important to not make assumptions. People with DS have a characteristic face shape that is round, with somewhat flat facial features and almond-shaped eyes, and are often of short stature and carry more body weight.
People with DS often have abnormally flexible joints and low muscle tone; some people with DS have what is known as “atlanto-axial [joint]l instability” which simply means a joint in his or her neck is unstable because of a loose ligament. In some cases, this may limit some activities a person with DS is able to do, such as gymnastics, diving, stretching, or climbing. For the most part, people with DS or their caregivers will be aware of atlanto-axial instability and what activities may pose more risk for them. Other problems that can result form Down Syndrome include heart defects, hearing loss, and speech problems (once again, likely attributed to muscle tone issues). People with DS may require different surgeries or therapies (such as speech, occupational or physical therapy). Because of other medical issues, a medical ID bracelet or necklace to identify these concerns, such as heart or hearing problems, should be considered..
To learn more about Down Syndrome, check out our interviews on the My Identity Doctor US blog from last year, with Holli and her mom, Brenda, about life with Down Syndrome.

Tag your bag for the journey: Medical bag tags

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If you’re an avid traveler, you know the importance of keeping tags on your luggage. One trip, I could not for the life of me find a luggage tag in my house! Fortunately my suitcase made it successfully through both flights, but I can’t say I wasn’t just a tiny bit nervous because it seemed like I was tempting fate! But, how well do you identify your medical items as yours?

medical bag with red ID tag

Certain items, like blood glucose test kits, zip cases for medications, oxygen tanks or compressor bags and CPAP machines, wheelchairs or walkers, or nebulizer compressors are important, especially when travelling. Any bags that contain medical supplies should be readily identified so that if they are lost, the urgency to return them and their contents is known. Our red medical ID key chains also double as excellent bag tags. I have one attached to my nebulizer bag—if someone finds it somewhere and does not know what it is, they will at least know that it is medical equipment, and hopefully take it somewhere where they will find a way to contact me and return my supplies! 
Most of us are very careful with our medical equipment—but, especially in the hustle and bustle of travel, things happen. By outfitting your equipment or medication bag with a medical tag, such as our bright red ones, you can have the peace of mind that anybody who finds your bag can get it back to you. A tag can also help people identify where to find the medication that you might need if you cannot get to it yourself. Our tags come in both plastic and aluminum versions, as well as a red-emblem stainless steel version. While all of our products are light, I have the plastic red tag on my nebulizer bag—it’s low profile and stays out of my way, but is bright enough to see when needed. Since this small carry bag for my neb stays within my carry-on bag most of the time, I don’t test the tag’s durability too much; however, if you are really rough on your bag (like I am on my backpack!) you may prefer the aluminum version for your journeys.
And, unlike those those paper-insert plastic tags that sometimes only last one trip on your suitcase before the plastic cracks, these sturdy little tags will hold up to whatever you throw at them, just like the rest of our products. 

Charcot-Marie-Tooth (CMT) Disease Awareness Month

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Blue ribbon with DNA waves on lower portion, the ribbon for CMT.

Image from CMT UK

Named after the doctors who described the disease, September is Charcot-Marie-Tooth (CMT) Disease awareness month (CMT has nothing to do with teeth!). CMT is a highly variable genetic disease—it is not always manifest, even if an individual carries the gene for CMT [1]. CMT affects the nervous system, and is one of the most common neurological disorders [2], and can cause issues of varying severity with both motor and sensory nerves [2]. Motor nerves are responsible for muscle activities including walking, breathing, speaking and swallowing [2]—each individual with CMT, depending on the subtype of the disease they have, can be impacted in various ways by the symptoms of CMT. Some individuals may be able to walk without assistance, or develop need to use mobility aids later in life—when mobility aids are needed, some may need just a cane to help with balance, others may progress to requiring a wheelchair [1]. Hand and forearm weakness, or “clumsiness” may also be symptoms of Charcot-Marie-Tooth disease—arm problems usually appear after leg problems, but not always; CMT in children may go unnoticed because clumsiness can be synonymous with childhood for some kids! Weakness, tiredness, and spine curvature can also occur with CMT due to the weakening of muscles in the latter, and the increased effort required to do daily activities with the effects of CMT in the former. [1]
CMT can be identified with a genetic test. From there, supports like adaptive aids for movement can be assessed for and provided. If CMT is affecting breathing, this may only happen at night (sleep apnoea), or it can cause problems during the day in rare cases [1]. In addition to a neurologist, a variety of specialists may be required to manage CMT. Treatment is about supporting the needs of the person with CMT—there are no CMT-specific treatments available to cure or slow the disease’s progression, but other supports for breathing, speech therapy, orthotics, braces, or mobility aids can assist with quality of life. [1.1]
Charcot-Marie-Tooth Disease awareness month takes place in September. If you live with CMT, you can share this post with others to help them concisely gain an understanding of what you might be dealing with. If you have CMT, especially if your speech or breathing are affected, wearing a medical ID bracelet can be very important as this can cause problems with communication during an emergency, or allow proper precautions be in place if you require anaesthesia for an emergency surgery, as certain anaesthesia types are not good choices for individuals with CMT. [1.2] You can view our selection of medical ID bracelets and necklaces by visiting, to help ensure your safety in an emergency.
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