Death leaves a heartache no one can heal, love leaves a memory no one can steal.

~ From a headstone in Ireland


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I’ve been asked to share what it means to have lost both my mother and my brother Rich to ALS. In other words, what does this disease mean for our family specifically? Well, I will do my best to make things as simple and as straightforward as possible.

My mother was an only child so she became our family benchmark for this disease. As a family, we do not know of any other members of the family before her having had this disease. However, her mother did die of Parkinson’s Disease. While not specifically related to ALS, Parkinson’s – like ALS – is a neurological disease. How that directly relates, we do not know at this point. Perhaps not at all.

My mother, Jo Saunders Mackney, was diagnosed with ALS in 1994. She had what is called bulbar onset of the disease. This means her first symptoms involved the muscles controlling speech and swallowing. Bulbar onset affects about 25% of all ALS cases.

In Rich’s case, he had what is called spinal onset of the disease. This means his first symptoms involved the muscles controlling his limbs – specifically his left arm.

While the initial onset of the disease my differ, i.e. bulbar onset versus spinal onset, it is still all the same disease. Eventually, the same things within the body are all going to be affected. It’s only the order in which they appear that differs.

In addition to the onset of the disease, there are also basically two different classifications or what are called forms of the disease:  Sporadic and Familial.

Sporadic ALS (sometimes abbreviated as SALS) is just as the name implies: sporadic. This means it can affect anyone, anywhere. This is also the most common form of ALS in the United States, and is 90 – 95% of all cases.

Familial ALS (often abbreviated as FALS) is also as the name implies: familial – meaning inherited. Only about 5 to 10% of all ALS patients appear to have a genetic or inherited form of ALS. In those families, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease.

Since my mother had ALS – and now Rich as well – it is pretty much certain based on all ALS criteria that Rich’s form of ALS was Familial. The only significant differences between his case and my mother’s was that his onset was spinal and her onset was bulbar; my mother was diagnosed at age 62 and died at age 64; Rich was diagnosed at age 54 and died at age 56; my mother lived on Long Island when first afflicted, and Rich lived in Arizona.

Genetic Testing… I’ve been asked does it exist and can we surviving Mackney siblings and offspring be tested for the disease. In a nutshell, the answer is both yes and no. They do not know what causes ALS, although theories abound. Scientists believe that there may be numerous genetic mutations that may carry the inherited form of ALS.  At this time, only three specific genetic mutation tests are available.

During my mother’s life, genetic testing for this disease did not exist. However, science has advanced and Rich was fortunate to have been able to undergo testing for the three currently known genetic mutations: SOD1 gene, FUS gene, and TDP-43 gene. In his case, he tested negative to all three of these known mutations. This means that my mother therefore would have tested negative as well. Good news is that as a family we can now rule out these three specific mutations. The flip side, however, is this also means that other genetic mutations exist for which tests have not yet been developed. Scientists believe there may be several more ALS-related genetic mutations to discover. As each mutation is discovered, it is only then that a test for it can be developed. Simply put, Rich’s negative genetic testing means that the specific genetic cause of ALS in our family has not yet been identified.

One important positive piece of information to note is that once we identify the genetic mutation in our family – and can test for it – anyone who tests negative for that specific genetic mutation prevents it from being passed along any further.

All that Rich did to fight this disease will always be invaluable information for his siblings and his children — as well as for each generation going forward. Rich was a pioneer both with genetic testing and experimental stem cell therapy and as such, a huge asset to not only our family, but to the entire ALS research community.

~ Liz Mackney

The state of research in the familial (inherited) form of ALS was the focus of a special one-hour Webinar presented by the ALS Therapy Development Institute (ALS TDI) on March 25, with reports by CEO & Chief Scientific Officer Steve Perrin.

Although familial amyotrophic lateral sclerosis (FALS) and the more common sporadic (no family history) form of the disease both progress in a similar manner once symptoms appear, the causes of sporadic ALS remain elusive, while a number of genetic mutations that cause FALS have been — and continue to be — uncovered.

Advances in technology are making it easier for scientists to probe the mechanisms that drive FALS, and the resulting new body of knowledge is revealing targets at which scientists can aim therapeutics – some of which already have moved into clinical trials specifically for FALS.

Greater understanding of the causes and potential treatments for FALS has implications for treating sporadic ALS as well.

To read the rest of the article click on this link:

http://quest.mda.org/news/familial-als-research-update

Researchers from Northwestern University Feinberg School of Medicine have discovered a link between sporadic and familial forms of amyotrophic lateral sclerosis (ALS), a neurodegenerative disease also known as Lou Gehrig’s disease.

Click on this link for the complete article!

http://www.sciencedaily.com/releases/2010/05/100505173014.htm

Imagine having your back cut open, part of your spine removed, a stabilizing device that resembles a mini oil rig mounted on your back, the outer membrane of your spinal cord sliced open and experimental stem cells injected into it — all for the advancement of science because it’s not expected to benefit you.

John Cornick, 51, did just that earlier this month as part of a groundbreaking clinical trial.

Read the rest of the story by clicking on this link:

http://www.cnn.com/2010/HEALTH/05/04/stem.cells.lou.gehrigs/index.html?iref=allsearch

While Rich’s journey may have ended, his mission has not. Per Rich’s request, I will continue to keep The Mackney Warriors blog up and active with news, research and interesting tidbits that may just be of benefit to us all.

Everyone’s continued participation on the blog with comments, stories and fond memories of Rich are most definitely welcome today, tomorrow and always. Rich will always stay alive in our collective hearts, and our entire family — my father, siblings, cousins, childhood neighbors and friends — will continue to look forward to learning from all of you of your favorite and heartwarming memories of Rich here on the blog.

Thank you everyone for helping to make The Mackney Warriors blog such a special place to all of us — and especially to Rich.

With sincere gratitude,

Liz Mackney

Keith, Lindsey and I want to express our sincere thanks from all of you for the hundreds of letters, cards and emails pouring in from all over the globe.  We thank you for your friendship, love and support this past year and a half.  We appreciate you sharing all the stories some that we never heard before. It was obvious from them how Rich touched each of your lives in some way.  The kids and I won’t be coming back to the blog so if you want to stay in touch you can continue to share your stories with Keith’s or my email. Please remember Rich in this photo above, happy, healthy and riding his bike forever.  Ilana

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