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Elizabeth's Genealogy Gems

A Rare Neurological Disorder: Is There A Canadian Connection?

September 12, 2016

A Rare Neurological Disorder: Is there a Canadian Connection?

“I’ve lost hope in the human body.” Geo Banas


It’s hard to believe that more than a year has passed since my last blog post. My absence from my website was not planned nor was it intentional. I have been on a very long and exhausting journey with my husband, a journey which I wish I didn’t have to make.

Geo was diagnosed last year with a rare neurological disorder known as, “Multiple System Atrophy (MSA)”. MSA is so rare that most of the physicians have never heard of it.

Our nightmare began early one morning in the Spring of 2015 when Geo walked into our bedroom and began to recap a news item he read online. I noticed that his speech was slurred. The problem seemed to dissipate as the day wore on and I assumed that he was tired. However, the next morning, once again his enunciation was noticeably slow and slurred. I told him that he should see a doctor. He adamantly denied anything was wrong with his speech. He told me later that he thought it go away. However, the slurring became more obvious and frequent over the following months. The problem worsened and the family members close to us began to mention that he didn’t “sound right.”

Other symptoms began to manifest as well, which included a tight feeling in his throat when he was stressed, intermittent trouble swallowing when he ate, a persistent cough and an overwhelming sense of sadness. I worried that he had a brain tumor or had suffered a minor stroke. Whatever was the cause of his symptoms, I knew something was seriously wrong.

After many attempts to cajole him into seeing a doctor, he finally acquiesced and called his doctor’s office to make an appointment. The doctor was on a vacation and could not see him until the following week. As far as I was concerned, we could not wait another week.  I took the matter into my own hands and contacted my doctor, who agreed to see him later that day.

She was stymied by his symptoms. She ordered an MRI and referred him to a neurologist.

His appointment with the neurologist was stressful. Geo has always been a gregarious person. He loved to talk. However, the doctor was not a “talker.” She had a quiet somber demeanor. She told us that the MRI results revealed some abnormalities in his cerebellum. However, she could not make a diagnosis. She concluded that he should see a speech therapist. Geo’s response was “no.”  I didn’t argue with his stance on this issue. I was not convinced that the problem could be solved with a speech therapy. We were not satisfied that his symptoms were something he would just have to learn to live with.

The following week Geo consulted his primary physician, who referred him to a neurologist in Springfield whom he knew to be excellent in his field. After a series of tests, the doctor concurred with the observations of the first neurologist.  More testing was ordered, which included genetic testing and blood work to screen for cancer. The tests were negative. The doctor wrote a prescription for medication that he thought would help ease his symptoms. However, we saw no difference in his speech or in the pervasive sense of despair that was dragging him down. I asked for a referral to another doctor. He told us he would refer Geo to the doctor of his choice. I began to research neurologists in our area.

Several weeks later, we met up with our cousins Tim and Susan Goodhind for lunch. They had been observing Geo’s speech difficulties for some time. Tim suggested we make an appointment at Dartmouth-Hitchcock Medical Center in Lebanon, New Hampshire. He said that Dartmouth-Hitchcock would be his choice if he had the mystifying symptoms Geo was experiencing.

Two months later, we were on our way to Lebanon, New Hampshire for an appointment with a movement specialist. Our experience at Dartmouth-Hitchcock was more positive. Admittedly, Geo’s symptoms did not appear to be the kind of problems a movement specialist could diagnose. I was wrong. She had a long list of patients with neurological disorders under her care.  She had a handle on his symptoms.  After an in-depth consultation, she requested a nuclear test to rule out Parkinson’s disease. The test results were negative. Her diagnosis was Multiple System Atrophy, a rare progressive neurological disorder. Geo was prescribed medication to ease his symptoms and we were told to prepare for the worse. He was facing an incurable debilitating condition, which included loss of mobility and the assistance of a feeding tube to stay alive. We left DHMC in a silent shock. Over the following months, we attempted to continue our normal routine, still hoping for a positive change in his condition.

By now you are wondering how genealogy research and Canada came into play in this situation.

Around the time of Geo’s diagnosis, I was hired to research a local family with French-Canadian roots. It was purely by chance that I visited Maple Stars and Stripes, a website dedicated to all French-Canadian things. A summary of a podcast pertaining to French-Canadian genetic diseases caught my eye and that is where I first learnt the founder’s effect. What is the founder effect? “The founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population.” [1]  A long list of hereditary disorders occur among the French-Canadians. Pioneering immigrants from France, who clustered together in isolated locations and married within their small settlements resulted in a small gene pool. Intermarriage among the population also contributed to the founder’s effect.


Most of the settlers came from only a few areas of France, such as the port cities of Dieppe and La Rochelle. Eleven hundred settlers came from Normandy. Almost 1100 came from the Îles de Paris... Two hundred seventeen settlers originated from an area of Normandy called Perche and are responsible for about two-thirds of the gene pool. [2]

A large number of settlers came from Poitou.

Genealogists have traced the ancestry of the individuals who are afflicted with the same genetic disorders and have found that common founders appear in all of the family trees.  A common founder is:  “…one who was present in all of these disorders. In Lac-Saint-Jean/Chicoutimi, thirty-eight of the forty-four founders from Perche show up in almost all of the genealogies.” [3]

Geo has a French-Canadian line through his maternal grandmother, Ann Melanie Gagne. The thought crossed my mind that his condition may be due to the founder effect?

Months passed and  there was no further deterioration in Geo’s physical health. The only obvious symptom was his slurred speech. I thought once again about the French-Canadian genetic disorders and I decided to research his ancestry.

I am not a doctor nor do I have any experience with genetic research. However, there are resources that identify some of the early pioneers who brought the mutant genes to Canada. If my research resulted in the discovery of a pioneer family or families, then I could compare my findings with the names of individuals listed as “founders.”

I began my research with Geo and traveled back through the records of births, deaths and marriages in his direct line to Louis Gagne, an immigrant from Perche, France (baptized 13 September 1612),[4] and his wife Marie Michel.[5] Louis or his wife, Marie, are the founders of one of Tyrosinaemia type 1, a rare genetic disorder found among the French-Canadians. Tyrosinaemia type I is a complex disorder which I am at a loss to explain adequately. However, Tyrosinaemia type I does not appear to be related to MSA. This does not mean that Geo does not carry the genes responsible for Tyrosinaemia type 1.

It is unfortunate that the company that performed the genetic testing for Geo did not test for French-Canadian disorders.

My work has just begun. Over the next few months I will be looking into the family trees of Geo’s maternal grandmothers to attempt to discover through their ancestry whether or not they are connected to genetic disorders that may have some relevance to his condition and perhaps to some of the conditions that are present in his immediate family. This is a work in progress.

I will continue to update this blog as my research progresses.

Visit Maple Stars and Stripes  to learn more about French-Canadian genetic disorders:



[1]      Wikipedia ( “Founder effect,” rev.00:18, 1 Sept 2016.

[2]     Normand, Muriel. "MSS-047-French-Canadian Genetic Diseases- Part I : The Founder Effect," interview by Sandra Goodwin, host, Maple Stars and Stripes, 26 Apr. 2016, MP3 file, Maple Stars and Stripes (  :  accessed 18 Aug 2016), minutes 41:29. From Sandra Goodwin's program notes.

[3]      Ibid.    

[4]     “Dictionary,” database, PRDH-IGD (  :  24 Aug 2016), entry for Louis Gagne, 13 Sept 1612.

[5]     Ibid. Louis’ entry  names Marie Michel as his wife (m. 11 Jun 1638).



“Acadian Genetic Diseases.” Article. Rootsweb.  : 2016.

“Dictionary.” Database.  (  :  2016.

Normand, Muriel. “French-Canadian Genetic Diseases-Part I: The Founder Effect.” Interview by Sandra  Goodwin, host. 26 Apr 2016. MP3file. Maple Stars and Stripes. http// : 2016. 

Wikipedia.  :  2016.


Elizabeth Banas-Author/Genealogy Researcher

E.A. Banas

Belchertown, MA 01007



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