Re: [IPp] A Life-Changing Diagnosis: Type 1 Diabetes
Hi Everyone,
This article mentions the availability of genetic testing and antibodies
testing to determine one's personal risk of developing T1 and to access
prevention study programs if appropriate. We just completed that testing
thru the Univ. of FL.
Our diabetic is the youngest and we have 5 other sons ranging in age from 8
to 15. All the boys were tested for both the genetic marker and antibodies,
and all tested negative. My husband and I were tested for antibodies and we
tested negative and as a result we will also now be tested for the genetic
marker.
Univ. of FL as part of their research will do the testing on any 1st and 2nd
degree realatives which includes parents, siblings, grandparents,
aunts/uncles (I think) and cousins. The genetic marker test is only
routinely offered for those under a certain age which is why my husband and
I weren't provided that test up front.
If anyone is interested in getting more info from FL, please let me know and
I'd be happy to share the contact information.
Tracy Winsor
----- Original Message -----
From: "Rachel A" <email @ redacted>
Sent: Sunday, August 31, 2008 1:03 AM
Subject: [IPp] A Life-Changing Diagnosis: Type 1 Diabetes
>
> http://health.nytimes.com/ref/health/healthguide/esn-type1diabetes-ess.html?r
> ef=health
>
> A Life-Changing Diagnosis: Type 1 Diabetes By ALIYAH BARUCHIN
> [image: Twin sisters Ali, left, and Marissa Newman at home.]
>
> Patrick Andrade for The New York Times
>
> Twin sisters Ali, left, and Marissa Newman at home. After Ali learned she
> had diabetes, Marissa enrolled in a study of the disease.
>
> In Brief:
>
> Type 1
> diabetes<http://health.nytimes.com/health/guides/disease/type-1-diabetes/over
> view.html?inline=nyt-classifier>most
> often arises in children or young adults but can strike at any age,
> with the sudden appearance of symptoms that may be life-threatening.
>
> Close relatives are at increased risk for developing the disease, but
> onset
> may require an environmental trigger.
>
> Managing Type 1 diabetes requires frequent daily insulin injections and
> intensive lifestyle changes.
>
> A blood test can help predict who is at a high risk of developing Type 1
> diabetes, and researchers are testing ways to delay or prevent its onset.
>
> On the eve of Rosh Hashana in October 2005, Ali and Marissa Newman and
> their
> parents, Stacey and Rick, drove from their home in Scarsdale, N.Y., to
> Long
> Island to have dinner with cousins. It was supposed to be a pleasant
> holiday, a time to be with family and to celebrate the Jewish New Year in
> temple.
>
> But for Ali and Marissa, 13-year-old twin sisters, the holiday was the
> beginning of a medical odyssey that would turn their lives upside down.
> One
> would learn she has Type 1 diabetes; the other would become the first
> person
> enrolled in a multinational study aimed at delaying or preventing the
> disease in some patients.
>
> The trouble had begun a month earlier, when Ali came home from summer camp
> unexpectedly thin, having lost about 10 pounds. She had also been
> unusually
> tired, falling asleep in the car and on visits to friends' homes.
>
> Ali's weight loss was so troubling that her friends and a school nurse had
> confronted her, wanting to know if she had an eating
> disorder<http://topics.nytimes.com/top/news/health/diseasesconditionsandhealt
> htopics/eatingdisorders/index.html?inline=nyt-classifier>.
> Her parents could not stop asking what was wrong; Ali, increasingly
> frustrated at being accused, could not give them an answer.
>
> The evening after Rosh Hashana, Ali struggled to climb the stairs to the
> bedroom she shared with Marissa. "I'd go two steps, then stop and take a
> breath," she later recalled. Marissa, who had been worried about her
> sister
> for weeks, stayed up that night, watching Ali as she slept.
>
> Ali woke twice and went to find her father, who gave her cold medicine and
> an inhaler to ease her breathing. But the third time she woke, when she
> said
> she could not make it down the hall, Marissa told her parents that they
> had
> to get Ali to the hospital.
>
> No one knew that Ali had developed Type 1 diabetes. By the time she
> reached
> the emergency room at 3 a.m., she was in diabetic
> ketoacidosis<http://health.nytimes.com/health/guides/disease/diabetic-ketoaci
> dosis/overview.html?inline=nyt-classifier>,
> a life-threatening condition in which extremely high blood sugar causes an
> imbalance in blood chemicals.
>
> "Her potassium was very low, and her glucose was very high," said her
> father, Dr. Rick Newman, a plastic surgeon. "She was in and out of
> consciousness."
>
> Ali's diagnosis sent a shock wave through every member of the Newman
> family.
> And it threw Marissa's future into question: as Ali's twin, she now
> learned,
> she could be at risk of developing the disease. Ninety percent to 95
> percent
> of all cases of
> diabetes<http://health.nytimes.com/health/guides/disease/diabetes/overview.ht
> ml?inline=nyt-classifier>are
> Type 2, or adult-onset, a disease frequently linked to
> obesity<http://health.nytimes.com/health/guides/symptoms/obesity/overview.htm
> l?inline=nyt-classifier>.
> But Type 1, known as juvenile diabetes, is not governed by lifestyle. It
> is
> an autoimmune disorder in which the body attacks the beta cells in the
> pancreas that produce the hormone insulin.
>
> Because people with Type 1 produce no insulin, they cannot survive without
> injecting it before each meal, and they must test their blood several
> times
> a day to check their glucose levels.
>
> "It's not the kind of condition where you just take a pill and sort of
> forget about it," said Dr. Natasha Leibel, Ali's endocrinologist at
> Columbia
> University<http://topics.nytimes.com/top/reference/timestopics/organizations/
> c/columbia_university/index.html?inline=nyt-org>'s
> Naomi Berrie Diabetes Center in Manhattan. "Managing Type 1 is an
> incredibly
> intensive life change."
>
> The key to preventing Type 1 is
> genetics<http://health.nytimes.com/health/guides/specialtopic/genetics/overvi
> ew.html?inline=nyt-classifier>.
>
>
> Everyone with the disease is born with a genetic susceptibility to it,
> though only a small minority of those with the predisposition actually
> develop diabetes, probably as a result of an environmental trigger. For
> this
> reason, those in the greatest danger of developing Type 1, with more than
> a
> 50 percent risk, are identical
> twins<http://topics.nytimes.com/top/news/health/diseasesconditionsandhealthto
> pics/twins/index.html?inline=nyt-classifier>of
> people who have it. Next, at a much lower risk, are children of men
> with
> Type 1, followed by those whose mothers or nontwin siblings have the
> disease. Fraternal twins like Ali and Marissa are at the same level as
> nontwin siblings.
>
> When Dr. Leibel asked to screen Marissa for her risk for Type 1, she
> agreed.
> And when she was found to be at moderate risk, Marissa became the first
> person to enroll in an oral insulin study being run by the Type 1 Diabetes
> TrialNet, a network of diabetes research centers.
>
> The study, supported by the National Institutes of
> Health<http://topics.nytimes.com/top/reference/timestopics/organizations/n/na
> tional_institutes_of_health/index.html?inline=nyt-org>,
> began enrolling subjects in February 2007. It uses insulin pills to try to
> delay or prevent Type 1 diabetes in people who have close relatives with
> the
> disease and are themselves at risk.
>
> The level of risk is determined by testing them for three types of
> autoantibodies proteins that attack the body itself beginning with
> autoantibodies to insulin. Once they join the study, participants take a
> daily insulin pill or a placebo (neither they nor the researchers know
> which), and their glucose tolerance levels are monitored every six months.
> The medication has no expected side effects.
>
> Dr. Mary Pat Gallagher, lead investigator for the Columbia center's
> participation in the trial, said oral insulin worked on the same model as
> allergy shots.
>
> "It presents pieces of insulin to the immune system in small amounts," Dr.
> Gallagher said. "Eventually, in theory, your body should say, 'O.K., I
> recognize that that's always here and that's actually part of me, and I'm
> no
> longer going to develop an immune
> response<http://health.nytimes.com/health/guides/specialtopic/immune-response
> /overview.html?inline=nyt-classifier>against
> it. I'm going to become tolerant to it.' "
>
> The concept of delaying or preventing Type 1 is based on the fact that
> autoantibodies can appear in the bloodstream up to 10 years before a
> person
> develops the disease.
>
> "There's some autoimmune process occurring well before people actually
> have
> impaired function," Dr. Gallagher said. "If we can intervene and somehow
> modulate that immune process early enough, could we prevent the diabetes
> from occurring altogether?"
>
> The idea has been tried before, with little success. But in a previous
> National Institutes of Health study of oral insulin, doctors discovered a
> subgroup of people in whom oral insulin showed a clear benefit, delaying
> the
> onset of Type 1 by up to four years.
>
> In addition to having a relative with Type 1, people in that subgroup had
> insulin autoantibody levels equal to or greater than 80 milliunits per
> milliliter. Participants in the current trial meet similar criteria and
> also
> test positive for at least one additional autoantibody a formula that
> puts
> them at a very high risk for Type 1 diabetes.
>
> "The previous study gave us hints of who we should be studying; now we're
> trying to study the folks who are most likely to benefit," said Dr. Jay S.
> Skyler, a professor of endocrinology at the University of
> Miami<http://topics.nytimes.com/top/reference/timestopics/organizations/u/uni
> versity_of_miami/index.html?inline=nyt-org>and
> the chairman of TrialNet. "I think we're going to find we can delay a
> disease for a very substantial period of time. I think we're going to hit
> the nail on the head this time."
>
> Marissa and Ali, incoming 11th graders at Scarsdale High School, are a
> study
> in differences. Ali, a varsity cheerleader, is voluble and opinionated,
> while Marissa, who studies theater tech and design, is more reserved, with
> a
> sharp eye and a dry sense of humor. Yet they have a powerful, obvious
> closeness what they call a "twin sense." They know each other's
> thoughts,
> fill in each other's sentences, form an unassailable team at Pictionary.
> They would do anything for each other.
>
> So for Marissa, the decision to be tested for autoantibodies and to enter
> the oral insulin trial was simple. "If a person has the opportunity and
> fits
> the criteria, I think it's the most helpful thing you can do right now,"
> she
> said. "I thought, 'Why wouldn't I do this?' It opens a lot of doors for
> other things."
>
> Marissa said she was never afraid of learning her own risk. "I'd rather
> know
> what I'm dealing with," she said. "If I don't know something, that makes
> me
> scared."
>
> Yet testing for Type 1 risk is a decision that even adults often find
> difficult. "It takes courage and bravery to agree to be tested, to know
> your
> risk for something that may happen in the future, and then to participate
> in
> a research study to help try to make it better," Dr. Leibel said.
>
> The girls' parents say they both feel guilt about not having identified
> Ali's condition themselves. Dr. Leibel said they were not to blame,
> particularly since they have no known history of Type 1.
>
> "This is a very typical presentation, in the sense that the child is
> completely normal up until a couple of weeks or months before," Dr. Leibel
> said. "All of a sudden they have some symptoms, and this is just sprung on
> a
> family. There's no way they could have predicted this."
>
> Nearly three years after the diagnosis, Ali is in good health, and Dr.
> Leibel said that her patient had adapted "amazingly well" to the daily
> demands of Type 1. Now the family hopes for positive results from the
> TrialNet study, which will follow Marissa for at least four years.
>
> The researchers are optimistic. "This is something that we have now to
> offer
> for families who, I think, might otherwise feel that they're curious about
> their risk, but they're afraid to find out because there's nothing they
> can
> do about it," Dr. Gallagher said. "That's not necessarily true any
> longer."
>
> --
> Rachel - email @ redacted
> New Pics from NYC Trip: http://picasaweb.google.com/rachelncole
>
> "The good Lord didn't create anything without a purpose... but mosquitoes
> come close."
>
> http://health.groups.yahoo.com/group/prescottaztype1diabetes/
> http://groups.google.com/group/prescott-az-type-1-diabetes
> .
.
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