BARBARA AND GRACIE'S STORY
LOOKING FOR ANSWERS TO EPISODIC FALLING SYNDROME
By Barbara Reese
Excerpt from an article originally printed in
"The Royal Spaniels Magazine", Autumn 2004, ed. Michael Allen
My first encounter with Episodic falling was on a cold October morning in 1978, when I found my fourteen week old puppy, Gracie, lying on her side in the snow. She was looking directly at me but was totally unresponsive to my calls. On picking her up, her front legs shot stiffly above her head and crossed behind it, twisting her neck to one side. Her hind legs were protracted, stiff and twitching. Panic stricken, I rushed her inside where, to my complete amazement, she stood up and continued playing normally as if nothing had happened. She had more of these episodes over the next few days and we made the first of what was to be endless trips to the vet. The many tests and examinations she endured ruled out a multitude of possibilities, including epilepsy, myasthenia gravis, ataxia and hydrocephalus. She was put on a low protein diet and we were advised to restrict her movement for six months, all to no avail. Nobody knew what was wrong with her. Nearly four years later, during which time she had a period of remission but then became progressively worse, she was finally diagnosed at Bristol University as having a Neuro-Muscular Transmission Defect. Our nervous system has millions of tiny motor-neurons that pass messages to and from the brain and it was thought that in Gracie this system was defective causing her muscles to go into spasm. The most devastating news of all was that there was absolutely nothing they could do for her. There was no cure and no treatment.
Dedicated to Gracie
July 10, 1978 to October 5, 1983
In 1982, Dr Palmer, from Cambridge University tried to research this condition, bringing it to light at a BSAVA Congress. He made an appeal for information in the dog papers and I wrote to him, sending what little information I had gathered. He replied to say that while he did think the condition was probably hereditary, without breeder support it was impossible to reach any definite conclusions. Sadly his research was terminated not long afterwards. A further attempt in 1986, by Dr Wright was also abandoned due to lack of information.
Over the past twenty eight years I have come into contact with many other cases, studied pedigrees and collected information. I have learned that the symptoms of episodic falling show considerable variation. A general list of symptoms by severity can be found on the Symptoms page of the website.
Gracie, would fall and go into a muscular spasm that could last from a couple of minutes to a few hours. She was extremely affected.
About eighteen months ago, thanks to the wonders of the Internet, I made contact with Tina Whittaker (Tilalee Cavaliers), who owns an affected ruby bitch and Christa Krey (Lessentine Cavaliers) in New Zealand. Both of these breeders were trying to find more information and raise awareness of this condition.
Christa has bred Cavaliers for thirty years and in 1995 produced two badly affected puppies. Determined to find answers she set about a carefully planned program of test matings on her own stock, which she has followed through for the past nine years. It has been an expensive, time consuming and sometimes heartbreaking road she has travelled. These matings have produced the expected Mendalian results for inheritance through a single recessive gene and this hypothesis has been supported by the pedigree information we have pooled. It will, of course, take expert research to confirm whether or not this is correct.
Since making some of this information available on the Internet, we have been contacted by many more owners of affected dogs, not only in the UK but also in the US, Australia, New Zealand and South Africa. More recently we have learned that new research is now ongoing at The Animal Health Trust in the UK, led by Dr. Jacques Penderis who is collaborating with Dr. Ned Patterson and Dr. Jim Mickleson of the University of Minnesota.
Firstly, they want to try to establish the pattern of inheritance for which they need pedigrees of affected dogs and their relatives. Secondly, they are assessing the effectiveness of different treatment options for severely affected dogs, which are currently extremely limited. Initially some dogs respond well to Diazepam or Clonazepam but there is a tendency for them to develop tolerance to these drugs and the beneficial effect soon wears off. They are now looking at other drugs to which tolerance does not develop and have had promising results from one of them. Thirdly they are collecting blood samples for DNA extraction to conduct genetic linkage analysis to determine the causative gene. If this is successful it will be possible to produce a simple test that will identify carriers. The research page has further information.
Needless to say, all the information that Tina, Christa and I have collected has been sent to Jacques and Christa has sent 30 blood samples from her large family group. We are thrilled that after nearly thirty years we have another chance to find answers.
Gracie was a beautiful little dog with the sweetest nature. She had her last episode when she was barely five years old and we couldn't bring her out of it. She could no longer stand, eat or drink properly and the decision to release her from further suffering had to be made. I had lost my precious girl after a long and arduous battle. She is waiting for me at Rainbow Bridge.
If you have a dog whom you think might have Episodic Falling, please go to the Contact us page and contact one of us.