"Intermittent Hypoxia" anyone ??

There is one other intriguing factor here. I have fibromyalgia and that is often accompanied by dysautonomia, or dysfunction of the autonomic nervous system. I just now had a desat down to 85 and pulse rate was 50 (slow for me). It lasted for about a minute. I also have desats when pulse rate is elevated (up to 120) but very brief. They show up on printout from CMS50f.

Here's Wikipedia on dysautonomia http://en.m.wikipedia.org/wiki/Dysauton ... d_symptoms


Sorry to all if I am not posting my replies properly, it's been a while since I was last on CPT. I'll try to figure it out.

Don't worry it's disappearing!

DYSAUTONOMIA



The success of genetic-screening programs raises an intriguing possibility: some dread diseases of the 20th century may soon become history. A representative example is familial dysautonomia, a severe neurologic condition, the incidence of which has decreased precipitously since population screening began in 2001 (see graph Numbers of Persons Born with Familial Dysautonomia, 1980–2008.).

By giving prospective parents the option of terminating affected pregnancies, screening is doing exactly as was intended, but the disappearance of diseases such as familial dysautonomia should also give us pause. On a practical level, will interest and funding shift away from these conditions, leaving affected adults without advocates or the possibility of scientific breakthroughs? And philosophically, is the disappearance of a disease always an unmitigated good? What does it say about — and to — people currently living with a severe genetic disease when prospective parents would rather abort than bear a child with the same condition?

Although we strive to learn about the biology of diseases, the way we understand them is a social process. As the historian Charles Rosenberg has written, “In some ways disease does not exist until we have agreed that it does, by perceiving, naming, and responding to it.”1 Thus, although some infants born before 1949 surely had what would become known as familial dysautonomia, it was not until Conrad Riley and Richard Day of the Columbia College of Physicians and Surgeons identified five cases of what they first termed the “Riley–Day syndrome” that the disease could be studied and treated. All five of the children had severe vomiting, odd blood-pressure readings, and anxiety, but their cases varied markedly; ultimately, Riley and Day identified a unifying pathophysiology on the basis of two key distinguishing features: the children felt no physical pain and shed no tears — ironic on both counts, given the suffering they endured.

The physiological defect was eventually identified as inadequate development of the sensory and autonomic nervous systems, which left the affected children with postural hypotension alternating with hypertension, excessive sweating, esophageal dysmotility, insensitivity to hypoxia, hypotonia, severe spinal curvature, and an ataxic gait. They were also prone to emotional lability, including periods of almost complete withdrawal. The combination of severe physiological and emotional alterations was termed “dysautonomic crisis.”2

These children also shared a cultural and hereditary background: their parents were almost all Ashkenazi Jews. Genetic mapping ultimately revealed a typical autosomal recessive inheritance: both parents were silent carriers. Among Ashkenazi Jews, the incidence was roughly 1 case in 3600 births. Riley and Day renamed the disease “familial dysautonomia” in 1951, the same year that some parents of affected children formed a support group, the Dysautonomia Association (now the Dysautonomia Foundation).

At least half the children with the condition died by 5 years of age, usually from aspiration. But in 1969, pediatrician Felicia Axelrod, working with the foundation, established a center for familial dysautonomia at New York University Medical Center. She developed an aggressive treatment program that included gastrostomy and fundoplication to provide tube feedings and reduce the risk of aspiration, spinal and other operations to correct anatomical defects, and liberal use of diazepam, clonidine, midodrine, and other medications to treat blood-pressure and mood swings. Today, half the people with the disease are expected to reach 40 years of age.2

Meanwhile, attention turned toward prenatal screening. Familial dysautonomia was one of several autosomal recessive diseases found most commonly among Ashkenazi Jews, the best known of which was Tay–Sachs disease. By the 1980s, Hasidic couples in New York were being tested, and if both partners tested positive for Tay–Sachs, they were discouraged from marrying.3 Over the next two decades, as genetic markers for other diseases that are more common in Ashkenazi Jews than in other populations became known, screening increased. In 1993, researchers localized to chromosome 9 the gene mutation expressed in children with familial dysautonomia; 8 years later, the specific gene was identified, and molecular diagnosis became possible.

The first people to avail themselves of screening were those who already had children with familial dysautonomia. But other Ashkenazi Jews did so as well, especially members of New York and Israeli Orthodox Jewish groups, who commonly marry within their own community. In 2004, the American College of Obstetricians and Gynecologists officially recommended testing parents whose fetuses were likely to be at risk. Thanks to screening, the number of births of children with familial dysautonomia has dramatically declined. Today, there are more than 630 known cases worldwide. But since 2004, five or fewer children with the disease have been born each year, with an average of one per year in the United States. This decrease suggests that familial dysautonomia may someday cease to exist.

But the potential disappearance of new cases of a disease raises profound questions. What will be the fate of the remaining affected persons? Insofar as they may benefit from advances in research and clinical care, how will they fare when it becomes more difficult to attract funding? After all, there are numerous dread diseases that affect millions of people. Generating interest in the unique medical problems facing adults with familial dysautonomia — neurologic disturbances, blood-pressure abnormalities, renal failure, and possibly mental deterioration — will be a challenge.

The need to focus on older patients with familial dysautonomia is clear. “It's a problem we asked for,” says David Brenner, executive director of the Dysautonomia Foundation and parent of a child with the disease. He acknowledges that fund-raising may become harder. Axelrod hopes that a better understanding of the mechanism underlying the gene mutation will lead to new therapies and the ability to modify disease expression. A clinical trial of a compound called kinetin, which counters the gene-splicing abnormality in familial dysautonomia, is under way. Other studies, however, may be more difficult to fund.

And what about the philosophical issues surrounding the eradication of a disease? The fact that fewer babies are being born with familial dysautonomia is “by all means a triumph,” Brenner believes. But there is active debate about the ethics of preventing the birth of disabled children by either genetic screening or selective abortion.4 Any discussion of these issues must be viewed in the context of eugenics. In the early 20th century, the eugenics movement sought to improve the human race by sterilizing “unfit” people and, specifically in Nazi Germany, by exterminating Jews. Another argument for tolerating genetic mutations is that some disorders, such as sickle cell anemia, may represent successful evolutionary adaptations to more severe diseases of the past.

Such concerns have led certain prospective parents to choose to have disabled children. For example, at least 10% of expectant parents do not choose abortion after learning that their child has Down's syndrome. And some deaf parents actually hope to use genetic screening to maximize their chances of having deaf children, desiring to raise them within a strong deaf community, which has its own unique culture, and believing that life may be richer for a deaf person than for a hearing person.

Nevertheless, the goal of eradicating familial dysautonomia remains ethically sound. According to Brenner, if parents of affected children were asked whether they would willingly bring into the world a second child with the disease or would advise someone else to have such a child, the overwhelming majority would say no. “No parent or child should have to go through it,” he says. Faye Ginsburg, vice president of the Dysautonomia Foundation and also the parent of a child with familial dysautonomia, calls “horrific” the notion that parents of severely disabled children would actively discourage other prospective parents from undergoing genetic testing or, if a major genetic defect were discovered, from aborting. Children and adults with familial dysautonomia have not themselves become involved in public discussions about genetic screening, although many have participated in fund-raising and educational outreach.

At the same time, both Ginsburg and Brenner emphasize that neither they nor other parents of children with familial dysautonomia would ever think of trading their children for others who do not have the condition. “There is my beautiful daughter whom I love more than anything,” says Ginsburg, “and imagining not having her is an existential exercise that I can barely think about.” Brenner describes his son Michael and other children with the disease as “blessings” who “bring out the best in others.” In his son's case, he says, “otherwise very cold people warm up to him. Science can't explain this.”

If familial dysautonomia disappears, the historian Susan Lindee notes, a series of social and technological innovations will have made an invisible disease visible and then invisible once more.5 But it would be wrong to dismiss the condition as a 60-year-old problem that modern medicine eventually “fixed.” For decades, patients with familial dysautonomia, their parents, and their doctors have struggled, successfully, to create rewarding and meaningful lives despite great obstacles. Yet these parents, unable to adequately ease their children's suffering, have quietly agreed that their children should become the last generation of patients with familial dysautonomia. In the end, perhaps the most important legacy of the disease will be the tremendously difficult and thoughtful judgments that it has forced society to make about the value of living life with a particularly severe disability.


Source: When Diseases Disappear — The Case of Familial Dysautonomia

Barron H. Lerner, M.D., Ph.D.

N Engl J Med 2009; 361:1622-1625October 22, 2009

Encore Pro reports on mostly the same things as SleepyHead but reports in a different format. It does retains the wave form data while Encore Basic doesn't.

If you have a windows machine, then you can install Encore in either version.

The reports are a little easier for me to read. The graphic report for breathing / pressure wave forms shows an expanded format 30 minutes of data per page so that patterns are easily seen.
SleepyHead requires the patient to drill down to a particular time and allows for close examination.
So,I use both because sometimes the data reported is better for me from one or the other.

The heart rate monitor just reports heart rate - nothing else.
The Holter monitor reports other stuff.
Heart rate, ventricular rates, SVT occurrences, and brachycardia events ~52 bpm or less, etc.

So your own heart rate monitor is useful for finding issues but is not diagnostic.
The Holter is diagnostic.

I'm seeing my cardiologist next week and we will discuss my very low heart rate at night.

Thanks for asking what the Holter does. It caused me to review my own report.