What is Genetic Counseling and should my family be tested?

The MDA recently sponsored an online presentation on genetic counseling. Afterward a YouTube video was made available of the presentation as well as a Quest online magazine article. Both are well presented in layman’s terms. I highly recommend viewing the presentation or reading the article since it is so applicable to Kennedy’s Disease (and Kennedy’s Disease is even mentioned).

“Article Highlights:

• MDA’s Genetic Counseling Webinar, which occurred Feb. 22, 2012, covered the basics of genetics and genetic testing, and answered questions from participants.
• Knowing your exact genetic diagnosis has advantages in terms of family planning and testing of other family members who may be presymptomatic, or may be carriers of the genetic mutation.
• An exact diagnosis also improves disease management by alerting doctors to associated health problems, such as cardiac issues.”

“Knowing your exact genetic diagnosis does more than just satisfy your curiosity — it can impact family planning, disease management and participation in clinical trials.”

There is even a Frequently Asked Questions section that addresses:

• What happens at a genetic counseling session?
• What are the limitations to genetic testing?
• What does it cost?
• When should unaffected family members be tested?
• How can I find a genetic counselor who is familiar with my disease?

Link to Quest Article: http://quest.mda.org/news/mda-genetic-counseling-webinar
Link to YouTube presentation: https://www.youtube.com/watch?v=JvkvkzBjk3A

Back in the early 80s my entire family was tested. At that time there was no test for Kennedy’s Disease and when the results came back three of us were shown to have Familial ALS. There was no genetic counseling offered at the time so we were left with a large void as to what does all this mean. About fourteen years later I was given another DNA test and officially diagnosed with Kennedy’s Disease.

What works for you?

Yesterday’s KDA chat room chat was interesting.  Our topic was “What works for you?”  I asked, “What have you found that helps improve your quality of life?”



Some of the items (some big and some small) that have been instrumental in improving the quality of my life are:

• Jar/bottle opener – Without this little instrument I would be asking my wife for help all the time.
• Bed pedestals – This elevates the bed to a good height for easier exiting.
• Adjustable height shower stool – I love my showers and they would not be safe without this stool.
• Removable grab bars for the shower – Safety is ‘job #1’ at our house.  And, if you are traveling somewhere, take them with you.
• Wheelchair’s elevated seat – This helped make life a lot easier. It is easier to stand up and also allows me to be closer to eye-level height when visiting.
• VMI equipped van – I am now safer and freer to travel alone.
• Tallette – I never go anywhere without this because commode heights are way to low.
• Recliner with elevated seat – Without this I would have to spend a lot more time in my wheelchair.
• Rechargeable screwdriver and socket set – Lightweight, but very handy.  It allows me to still do a lot of repairs and maintenance.
• Golf cart – This allows me to visit neighbors, get outdoors and commune with nature, and take my dog for walks several times a day.

Now it is my turn to ask for you to take a few moments  to let me know, “What have you discovered that makes your quality of life safer and better?”  In other words, “What works for you?”

In case of an emergency, have a plan

The tornado that struck our town and barely missed us this week brought to mind the need for having an emergency plan and a backup plan.  I have tackled portions of this subject in several articles, but today’s article will discuss what we have learned this week.



Emergency File

First, however, I recommend that you read the article where I discussed having an “Emergency File.”  Having all your important documents and information in one place can be a timesaver and one resource for most of your information needs.

Emergency Plan - Preparation and Practice

I found that even though we were somewhat prepared, when the time came and we started scrambling, we did not think of everything.  Even though we had about thirty minutes, that is very little time when it comes to thinking about what needs to be done ‘just in case’ your house becomes a victim of Mother Nature.



1.  Loss of Services

Over 119,000 homes were without power for almost two days.  Approximately 50,000 homes are still without power today.  It could be another week before everyone’s power is restored.  The entire city is also without drinkable water.  Roads are closed and people are prohibited from entering and occasionally from leaving these areas.

We thought that a couple of gallons of water would be enough for most situations, now we realize that we need that much per person per day.

• Without electricity, what happens to your cell phones and more importantly, your wheelchair or scooter (if you have one).  They both need charging. 
  • How do you get in touch with family and friends as well as emergency services if your phone runs out of juice?
  • Flashlights and batteries are also needed.  Do you have enough to last several days and possibly up to a week?
  • If you plan ahead and buy a backup emergency generator, can your wife or you hook it up safely when needed?
• You cannot cook or microwave and your refrigerated/frozen foods do not last long. 
  • Do you have enough ice chests? 
  • Do you have food that does not require cooking? 
  • Do you have enough pet food to take care of your critters?

2.  Evacuation Plan and Backup Plan

• Should you stay or leave?  When we heard the news of the impending tornado strike, we did not even consider leaving.  With 190 mph winds, we should have been packing up and leaving for someplace safe. 
  • Where should should go?  Do you have family or friends in the area? 
  • What happens if the primary routes are blocked?
  • What do you need to take with you?  For example:  important documents (wills, financial information, etc.), emergency papers, contact information, the computer, medications, pet food and supplies, tallette, etc.
  • Do you have a list of important contacts with their telephone numbers in case you have to evacuate?
  • Where is the nearest evacuation center or shelter?
  • If you are handicapped, what else do you need to take to ease the transition to temporary housing (hotel, shelter, family or friend’s house, etc.)?

3.  Medical Emergencies

• What if medical services cannot reach you?
  • Do you have a fully stocked first aid kit?
  • Do you have a supply of prescription medications that will last for up to a week?

4.  Practice makes perfect

• At least annually, conduct a fire drill, a tornado (or hurricane) drill and an evacuation drill.  It is important to have everyone in the family participate. 
  • Do you have a checklist of what to take with you or what to protect (carry into the basement or interior closet, for example)?  Everyone should have their own checklist and responsibilities.
  • How long does it take to fully prepare for the emergency or evacuation?  This will give you a needed minimum timeline to work from.
• After conducting the drill, sit down with the family and review what went well and what needs to be improved or changed.

I could go on, but this is just meant to get you thinking of what needs to be done to fully prepare for an emergency.  What am I forgetting?

IMPORTANT:

Don’t assume anything!

Ramps; An opportunity to increase your freedom

Several years ago I found that stairs were just not going to cut it any longer.  One or two were still manageable, but anything more than that and if they did not have handrails on both side I was done.

At first we bought a portable (fold-up) ramp.  It was a little heavy, but it did the trick in many situations.  Since we bought this aluminum ramp, newer designs have emerged that are lighter and easier to manage.



When we moved to Georgia, however, the house we wanted had too many steps and my confidence level had declined enough for me to know we needed ramps.  The first ramp build was from the garage into the house.  This worked great because it was wide enough to handle a wheelchair should I need it, but it also had handrails on both sides.

Later I wanted access to our rear deck, so we built a wraparound walkway that was actually a ramp.  It is about forty feet long and slowly elevates to the height of the back deck.  This walkway opened up a the back yard to me.  I now have access to the deck from two rooms in the house and also from the driveway.



The front porch was another area that eventually became a problem.  Even though it was only one step, once I was using a wheelchair that step became Mount Everest.  A friend brought over a three foot by three foot grated aluminum pedestal ramp.  This has become a lifesaver many times because it is portable enough to take to family and friends’ houses that do not have wheelchair access.



If you are considering building a ramp for your house, there are plenty of resources available on the internet as well as associations that provide brochures on the subject.  “eHow”, for example has an excellent “how-to” guide for building several different types of ramps.

There are, however, some general rules that are good to know ahead of time.

• Building Permit:  Always check with the building code office in your community and your homeowners association (if you have one) to see if a permit is required.
• Proper Dimensions: 
• For a motorized wheelchair, the maximum slope is considered to be for every twelve inches (12”) in length, the ramp should not rise more than one inch (1”).  For instance, if you need a ramp that extends from the ground to the top, at a height of 2 feet, you would multiply the height in inches (24 times 12) and come up with 288 inches. That equals 24 feet, so you would plan a minimum of 24 feet from the beginning of your ramp to the entrance. 
• For a manual wheelchair or for walking, consider having a more gentle slope of 18” in length for every 1” rise.
• A good width is at least 42” wide with a four-inch curb along both side (planters can serve the same purpose and add a nice decoration).  If you will need help walking up the ramp (someone beside you), the width should be 48-54”.  If the width is a concern, consider the following as a minimum.  After curbs or planters, and railings and handrails are installed the very minimum width should be no less than 36”.
• Design:  Yes, you are building today, but planning for the future.  At some time a wheelchair might be needed so always consider that possibility in your plans. 
• Long ramps can be built in an ‘L’-shape or have a switchback in it. 
• Long ramps are less attractive than short ones and always try to consider a location that is not as prominent as the front of the house if possible.
• Construction Materials:  Poured concrete and pressure treated lumber are the best material and require the least maintenance. 
• Pressure treated woods are good, but require annual maintenance.  Concrete footings are best to minimize the woods contact with the ground. 
• Concrete ramps are more expensive, but they have a longer life and require little maintenance. 
• Products like ‘Trex’ (it has the appearance of wood and is coated with a nonslip surface) are a good choice because they require minimal maintenance.
• Landing Area:  Plan at least five feet of landing space at both the top and bottom of the ramp. 
• If the ramp changes direction (switchback or ‘L’-shaped) or is higher than three feet, include an intermediate landing if possible.
• Surface Materials: 
• Use a nonslip deck paint on wood ramps. 
• If using concrete, use a stiff brush (side to side strokes) while still wet to create better traction.
• Handrails:  Railing should be on both sides and provide sturdy handrails between 36-38” high.  Handrails must be continuous and secure as well as provide at least a 1½-inch space between the rail and a wall.

Should you have other thoughts and suggestions, please comment below.