RE: Re: Marfan Syndrome

[Guest guest]

Deshea,

I don't know if it would help but I do know that it wouldn't hurt. I would speak to the genetic doc. 's cardiologist had never heard of the study. It was his Genetic doctor that suggested it. doesn't have Marfan Syndrome either but we are pretty sure that he has some kind of connective tissue disorder. pin pointing the right one has been a challenge.

Connie

Marfan Syndrome

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> heard this very interesting article on npr this morning. thought

some folks here would be interested.

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> my best,

> deshea

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> http://www.npr.org/templates/story/story.php?storyId=90257827

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> Health Care

> Old Drug Offers New Hope for Marfan Syndrome

>

> by Kestenbaum

>

> Morning Edition, May 8, 2008 · We tend to think we know what most

pills in our medicine cabinet do. But sometimes a drug approved to fix

one thing also turns out to fix something completely unexpected.

>

> That may be the case with a common blood pressure-lowering drug

called Losartan. It's been on the market for more than a decade and

has been taken by millions of people.

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> Now it looks as though the drug also could be a powerful tool for a

deadly genetic disorder called Marfan syndrome. About one or two of

every 5,000 Americans are thought to suffer from the illness,

according to the National Marfan Foundation.

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> Although caused by a defect in a single gene, the disorder wreaks

all kinds of havoc. It alters the connective tissue between cells and

can affect the skeleton, the eyes, the lungs. Most dangerously, the

aorta â€" the main artery coming out of the heart â€" can weaken,

enlarge and burst. People with Marfan syndrome are generally tall,

thin and loose jointed, which has led some to speculate that Abraham

Lincoln had the disorder.

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> The poster-child for the promise of Losartan is a boy named Blake

Althaus, who is 5 1/2 years old and quick with a joke. ("Why couldn't

the 10-year-old go to see the pirate movie?" he asks. "Because it was

rated Aaaarrgh!" he says, dissolving into laughter.)

>

> When Blake was born, his parents noticed he had long legs and long

fingers. "They were spidery," his mom, Anita, remembers. Months later,

after some tests, doctors told Anita and her husband, Joe, that Blake

had Marfan syndrome.

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> And the diagnosis became more worrisome with subsequent visits.

Every time Blake's parents took him to the doctor, they learned that

his aorta had gotten bigger. This usually doesn't occur in people with

Marfan syndrome until later in life, but it is the disorder's most

life-threatening aspect.

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> "It was devastating," Anita says. "We would leave the appointment

and we'd just feel like our whole world was ending." It seemed Blake

would likely need heart surgery.

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> A Happy Discovery

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> But the family's doctor, Hal Dietz at s Hopkins University who

specializes in Marfan syndrome, had been looking for new treatments

that wouldn't require surgery. Recently, he and his colleagues have

focused on a protein called TGF-beta that seems to be too active in

people with Marfan syndrome. When his team studied mice that had a

version of the disorder, they found that blocking TGF-beta allowed the

aorta to develop normally.

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> "It was really one of the happiest days in my professional life,"

Dietz says of his discovery.

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> It generally takes years to develop a drug. But Dietz went to his

computer, pulled up Google, and typed in "TGF beta-blocking drug." Up

popped references to a drug called Losartan, which was on the market

as a blood pressure medication but also happened to be very good at

stopping TGF-beta.

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> Dietz says it would have been hard to design a better drug.

"Losartan has been used to treat tens of millions of people with high

blood pressure," he says. "It's known to be an extremely safe and

well-tolerated medication."

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> As a test, his team gave Losartan to mice with Marfan syndrome and

it seemed to fix the aorta problems. Normally, a new drug must be

safely tested on humans, which can take years. But because Losartan

was already in pharmacies, Dietz could just write a prescription for it.

>

> He felt he had to offer it to his most desperate patients, so he

talked with Blake's parents, who were eager to give it a try. Blake

started taking Losartan, and for the first two years, his aorta showed

no new abnormal growth. Anita says his muscle mass improved and that

Blake started running around like other kids and riding a Big Wheel.

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> Not a Perfect Drug

>

> Dietz says he cautions patients that the drug might not work for

everyone and that he doesn't think it will fix everything. But at the

same time, things look promising.

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> "To date, we've treated about 19 children with severe Marfan

syndrome. And we're pleased to say they have all shown a very dramatic

response to the medication," he says.

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> Dietz says it has helped not only with aorta growth, but also with

abnormal bone growth.

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> "The rate of growth of the long bones has slowed down on the

medication. So I'm really hopeful that this is going to make a big

difference," he says.

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> Dietz has not yet published his patients' results in a peer-reviewed

journal. But several top experts interviewed for this story agreed

that so far the prospects for treating the disorder with Losartan look

exciting.

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> Cardiologist Anji Yetman, who runs a University of Utah clinic for

people with Marfan syndrome, says she has reservations.

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> "I don't believe we have found a miracle drug for Marfan syndrome,"

she says. "I think we found a drug that may be highly effective, but

there have been patients with Marfan syndrome on Losartan who

unfortunately have gone on to develop ... tears in their aorta

requiring urgent surgery."

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> Yetman says a different type of blood pressure medication, called an

ACE inhibitor, may work as well or better than Losartan. She says she

has put many of her patients on it.

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> Putting Losartan to the Test

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> The way to find out what Losartan does and doesn't do is through a

careful clinical trial where some people are given the drug and some

are given something else, and then the two groups are compared.

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> That's what's happening now. The National Institutes of Health has

started enrolling people in a clinical trial. There was some concern

that people with Marfan syndrome would just start taking the drug on

their own, but the NIH says enough people seem to be enrolling. So far

more than 200 people have signed up, and the NIH is hoping for about 600.

>

> Dietz says he tells his patients that the trial is the only way they

can really see what the drug does, find the right dose and identify

any side effects.

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> Always a Little Different

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> After a few years of taking Losartan, Blake is doing well. He runs

with the other kids, though not quite as fast. His mom says that one

morning he asked if maybe new shoes would help him go faster.

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> "I ended up crying that whole afternoon while he was at school,"

Anita says. It was hard, she says, watching him realize he was a

little different.

>

> Then when she picked him up from school, she recalls, "he said 'Mom

can you take me shopping so I can get new tennis shoes so I can run

fast? I'm always the slowest guy.'" Anita told him that Marfan

syndrome made his ankles a little loose, so running would be hard. But

she also told him he was the best fisherman she had met in her entire

life. "I am?" he asked, his face lighting up.

>

> In the past year, Blake's aorta has grown a bit, his mother says.

It's not an emergency, but his doctors are watching it.

> __________________________________________________________

> mom to lucas (6 1/2 yrs old) and ruby (3 1/2 yrs old and a handful!)

> north of boston, ma

>

> lucas was diagnosed with infantile scoliosis at 18 mos 68o/45o

> spinal detethering due to a tight/fatty filum at 22 mos

> tlso and charleston brace from 18 mos to 2 1/2 yrs old at children's

boston, ma

> serial plaster casting from 2 1/2 until 4 1/2 yrs old at shriners in

erie, pa

> now in a spinecor brace at 21o/19o from montreal.

> next appt. sept 2008

>

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[Guest guest]

Hi

I would defenitely start with a Genetics Doctor. We are also trying to piece together my daughter medical mystery, she has issues that causes concern. She has seen 2 genetic doctors and they beleive she has some type of "syndrome", but can't figure it out. So I'm in the process of looking into a 3rd geneticist.

Best of luck to you and your family

mom to Larissa(4 years old)

To: infantile_scoliosis From: brunnercommunications@...Date: Fri, 9 May 2008 20:55:46 -0700Subject: Re: Marfan Syndrome

Sorry to jump in but I think maybe you can help me piece together my son's health mysteries.

Here is what I know. He has celiac disease, he has mild scoliosis and feet that roll in alot and unequally causing him daily foot pain (despite orthopedics). We have been told he has "very lax ligaments." He is also very high, but not quite hyper, IGE with a lot of food allergies. He is under weight (29 lbs at age 4), about 1 percentile if I remember correctly (and he was the second largest baby born that day at the hospital!) He also has some sensory integration issues (regarding his position in space as he moves, tactile, over emotional).

My question is where do I go to pull the pieces together? What kind of specialist? This group is mentioning so many things I didn't realize were related to scoliosis and I'm beginning to think maybe you can help me figure this out and get him the right help. Thank you for your insights.

--

Re: Marfan Syndrome

Posted by: "tovi39aol" tovi39@... condi221

Fri May 9, 2008 5:57 am (PDT) Deshea,I don't know if it would help but I do know that it wouldn't hurt. I would speak to the genetic doc. 's cardiologist had never heard of the study. It was his Genetic doctor that suggested it. doesn't have Marfan Syndrome either but we are pretty sure that he has some kind of connective tissue disorder. pin pointing the right one has been a challenge.Connie

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[Guest guest]

Hi , My daughter doesn't have any of those issues, but we got a lot of help/answers from her neurologist, who also referred us to a geneticist that we are currently working with.... Has your son been to either of those types of docs? Just a thought.... Steph Brunner wrote: Sorry to jump in but I think maybe you can help me piece together my son's health mysteries. Here is what I know. He has celiac disease, he has mild scoliosis and feet that roll in alot and unequally causing him daily foot pain (despite orthopedics). We have been told he has "very lax ligaments." He is also very high, but not quite hyper, IGE with a lot of food allergies. He is under weight (29 lbs at age 4), about 1 percentile if I remember correctly (and he was the second largest baby born that day at the hospital!) He also has some sensory integration issues (regarding his position in space as he moves, tactile, over emotional). My question is where do I go to pull the pieces together? What kind of specialist? This group is mentioning so many things I didn't realize were related to scoliosis and I'm beginning to think maybe you can help me figure this out and get him the right help. Thank you for your insights. -- Re: Marfan Syndrome Posted by: "tovi39aol" tovi39@... condi221 Fri May 9, 2008 5:57 am (PDT) Deshea,I don't know if it would help but I do know that it wouldn't hurt. I would speak to the genetic doc. 's cardiologist had never heard of the study. It was his Genetic doctor that suggested it. doesn't have Marfan Syndrome either but we are pretty sure that he has

some kind of connective tissue disorder. pin pointing the right one has been a challenge.Connie Be a better friend, newshound, and know-it-all with Yahoo! Mobile. Try it now.

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