by Tim Rowan, Editor
The 66th annual convention of the National Ataxia Foundation was held in Las Vegas last week. If you are a nurse, therapist, or physician reacting to that news with, “What is Ataxia? I’ve never heard of it,” the conference theme is addressed to you:
The theme was repeated frequently during the three-day conference by everyone from nationally known neurologists from UCLA and Johns Hopkins to TV personality Bill Nye, who has family members stricken with the genetic disorder but has himself been spared.
Home Health nurses and therapists, along with Home Care personal care attendants, come across individuals with rare diseases and disorders such as Ataxia at a rate higher than these persons present in the general population. Knowledge of symptoms and treatments facilitates better patient care for this small, vulnerable, high-need population. Sadly, few medical and nursing schools even mention it, which makes the theme’s lamenting tone so poignant.
Lesson One, definition: Ataxia is not a disease or disorder on its own. It is more accurately defined as a combination of symptoms due to progressive deterioration of the cerebellum and its connections. It can have as many as 40 unique causes, all producing similar symptoms, with more being discovered every year.
Lesson Two, symptoms: Poor balance, slurred speech, dizziness, vertigo, blurred vision, double vision, and what has been dubbed "jumping vision." The challenge to in-home clinicians and caregivers is to know what to do – and not do – when they encounter a new patient or client who displays these symptoms.
Ataxia is not ALS, MS, or Parkinson's Disease. Too often, an unaware personal care physician, even a neurologist, may improperly diagnose Ataxia as one of these, potentially misdirecting in-home care plans.
In addition to motor and vestibular symptoms, clinicians and caregivers may witness cognitive limitations, mood changes, emotional dysregulation, impulsive behaviors, apathy, anger, irritability, language, reasoning, and what one expert described as "frontal executive difficulties with planning, dual tasking and sequencing." To make care planning one degree more difficult, they may encounter any number of random combinations of these symptoms.
Lesson Three, causes: this lesson is best addressed in a medical text rather than a brief article, but these few insights will be helpful. There are at least 40 DNA mutations that can cause the same symptoms.
Some of them are genetic, brought about by the random pairing of one specific gene from each parent. This is why one sibling may be affected and another not, as in Bill Nye's family. Some Ataxias are acquired, such as through cancers that damage the cerebellum. And some are brought on by outside sources such as brain injuries.
Some, and here is an added challenge, are of unknown cause, remain undiagnosed, but produce the same symptoms. There is also a type known as "idiopathic or sporadic Ataxia."
The most common origin, the type that runs through Bill Nye’s family, is Genetic Ataxia, an autosomal disorder that can be passed through the generations via a dominant or recessive gene. It can be X-chromosome-linked or Mitochondrial. Nye’s family’s syndrome has been identified as "SCA-27B." So far, at least 30 SCA-type Ataxias have been identified through genetic sequencing.
At age 67, Bill Nye told conference attendees that he has himself tested annually. Why his father and sister were affected and he was not, he said, reduces him to both awe and tears on a regular basis.
One conference participant reported from the audience that she has conducted genealogical studies going back 300 years and found that 50 percent to 67 percent of her ancestors described symptoms we now call Ataxia. She, too, is regularly tested, and is nearly always anxious about if and when her symptoms will appear. There are childhood versions, even rare infancy onsets, but most people are diagnosed in their late 20’s to early 30’s.
Lesson Four, treatments: there are few today, though research is aggressive and expanding. The announcement that drew the loudest applause last week was that, earlier in March, the FDA just approved a drug that helps slow the progress of one of the 40 types, known as Friedreich's Ataxia. That one drug took 10 years from development to approval, and it is ineffective with the other types. Advocacy is one of the most important functions of the NAF.
Jennifer Keller is a Physical Therapist at the Center for Movement Studies in the Kennedy Krieger Institute. She told us that she does a great deal of work with patients in their homes and has found that exercise helps to minimize symptoms and slow the disease’s progress. One Ataxia patient in attendance confirmed Ms. Keller’s experience:
"I was diagnosed at age 32 and I am now 68. Dr. Perlman told me that I would be in a wheelchair, if I was still alive, before age 50. I exercise every day and I am still walking with a walker and only use a wheelchair at airports and amusement parks."
A common experience of the Ataxia patients in attendance was the difficulty finding a neurologist who had even heard the word. UCLA's Dr. Susan Perlman, a nationally respected Ataxia specialist, reported that progress can be detected but there are only about 20 neurologists in the U.S. who have educated themselves about it and who welcome Ataxia patients.
Many stricken people go years without a diagnosis simply because they cannot find a knowledgeable neurologist. This may be another area where an informed Home Health nurse or therapist can help.
Bouts of anxiety are common in some patients who have been diagnosed, so it is easy to imagine the combination of fear, confusion, and anxiety that comes over an undiagnosed person when he or she first starts dropping things, stumbling, and repeating themselves at the request of loved ones who cannot understand their gradually worsening slurred speech.
Dr. Perlman said that new Ataxia patients typically hear one of two things from their doctor.
Awareness of this rare disease may put Home Health nurses and therapists in a position to help. Sometimes, all it takes is recognizing the symptoms, which in-home caregivers may see before anyone else.
Finally, simply be aware that information found in Internet searches may or may not be accurate and is rarely timely.
In the event a nurse, therapist, or personal care attendant comes across an undiagnosed patient in the home who displays the symptoms described above, there are several things the experts recommended in addition to referrals to the resources listed.
Support is critical. Ask about friends and family, and about awareness of local support groups.
All Ataxia's are treatable. Important contacts are neurologists, psychiatrists and psychologists, cardiologists, sleep specialists, endocrinologists, and speech therapists. Be prepared to refer to social workers, nurse specialists, dysphagia treatment, palliative care, and hospice. Spouses and families often benefit from counseling as well.
If there is a bottom line, it is that Home Health nurses and therapists and Home Care caregivers may go through their entire careers and never meet a person with a movement disorder. Some may run into several Ataxia patients over their careers. It is important to think of all this information the way you think of a seatbelt. You may never need it, but you always buckle yourself in. Once prepared, you will never be the one about whom it is said:
©2023 by Rowan Consulting Associates, Inc., Colorado Springs, CO. All rights reserved. This article originally appeared in Home Care Technology: The Rowan Report. homecaretechreport.com One copy may be printed for personal use; further reproduction by permission only. editor@homecaretechreport.com