Intl Myotonic Bulletin Board

Is it possible to only 'carry' the gene?

Hazel78 — Fri, 06 Nov 2009 18:35:38 GMT

I have been trying to find out if it is possible to only 'carry' the defective gene for myotonic dystrophy and not actually have the condition? Reason I ask, is that my father had MD, being diagnosed age 30. I am aware that symptoms become more severe from generation to generation, due to the expansion of the defective gene. I am one of 3 children, and both myself and my brother have had the genetic test for MD, and do not have the condition, however, my other brother has never been tested. He is now age 33, and I suspect if he did have MD the symptoms would have appeared by now. However, he has a son, and I worry if there is a possibility MD could still be passed on?

uncertainty

josiejacob — Mon, 19 Oct 2009 18:23:37 GMT

Hi. I am a 35 yr old female who was diagnosed with a "myotonic disorder" about 2 yrs ago after a diagnostic EMG. I went to the neurologist due to c/o weakness, muscle pain and twitching, and swallowing difficulties. I was sent to a specialist who did an EMG which did not show anything so he said that I was fine and sent me on my merry way. My previous nuerologist repeated the EMG which he said definitely showed myotonia in all muscle groups tested. Well, needless to say, I continue with the all of the above symptoms and the weakness in my arms has gotten worse (especially after doing anything strenous) as well as walking up stairs has become quite a struggle at times. I have been dx with GERD, TMJ, IBS, Atrial Tachycardia, and have had complete hysterectomy due to a prolapsed uterus and endometriosis. I do not have a firmative dx and not even sure if I want one but I have 2 children which have shown some signs of the disease and would want to do what is best for them.

I guess I just need some advice on what to do ... thanks for listening.

sudden acceleration of symptoms

pookie — Thur, 03 Sep 2009 12:56:49 GMT

I just wondered if anyone has experience of sudden acceleration of symptoms especially leg weakness?

My situation is that my wife who is 31 (diagnosed about 11 years ago) was able to walk with only slight discomfort until a couple of weeks ago.She used to have fallings about once every few months at most and almost exclusively very late at night or when she had been extremely stressed.

However,within the last week she has fallen at least once a day and has to use crutches everywhere,even indoors and has had to resort to crawling up stairs and sometimes cannot even get herself from crawling position back into bed.She has constant pain in her legs and occasional severely intense shooting pains .She also has developed burning sensations in her feet.Now I pretty much know what the burning sensation is but really dont know how to explain it to her.I think thats best left to the neurologist.

We are going to see about her trying out some wheelchairs because she wont really leave the house (understandably) on her own right now but we are not sure her arms are strong enough to push herself and an electric one would be too heavy to get out of the car! catch-22 or what?

I have managed to get an appointment with her neurologist for next friday (which is an acheivement in itself),but i just wondered if anyone else had experienced a sudden increase in problems such as this?

I guess i am hopeful that, as DM is supposed to be a very gradual process ,that the sudden increase will have a different cause and hopefully will be something treatable.Yeah,i know i'm sort of clutching at straws but hey...sometimes you gotta do whatever helps you through the day.

I love her so so much and it is so hard to see a loved one struggling and so scared about the future (as i guess a lot of you know from one side of the fence or the other).I wish i could just carry her around in my arms for the rest of my life or at least swop places with her every now and then to give her a break from it all.I dont mind suffering at all if it means she doesnt because she is my world and my life and always will be.Okay enough,of the soppy stuff before i start welling up and/or start making some people physically sick!

By the way,if anyone finds a magic wand lying about,any chance i can borrow it? I promise to share it with everyone else afterwards...

Sorry this post stretched on a bit and thanks for sticking with me to the end!

The best of british to you all.

Pookie

Teen social emotional issues

Raven — Sun, 09 Aug 2009 15:27:45 GMT

I have a 16 year old teen daughter who has been acting out. she is emotionally disconected, has had the typical lack of facial expressions that are getting worse, she also seems absent of feelings regarding her actions. She makes poor decisions and is having boundary issues and lies. I don't know what to do she just seemed to explode this summer. I dont know if this is the disease which she has DM1 or typical teen problems? Please help I am at my wits end. By the way she does not know she has this disease.

have you seen this yet?

pookie — Tue, 21 Jul 2009 08:35:03 GMT

http://news.bbc.co.uk/1/hi/health/8156215.stm

Check the link to the bbc news website regarding possible future treatment.

Pookie

need help finding a handicap van

wenda — Sun, 12 Jul 2009 23:40:33 GMT

i was just wondering if they are places that help you find or even help you get a handicap van because i can drive but with me in a wheelchair it is getting hard for me to get in and out of my car so i'm looking for a handicap van

Stem Cell Therapy

Tsh — Fri, 10 Jul 2009 05:56:47 GMT

Hello,

My brother was diagnosed with Myotonic Muscular Dystrophy at a clinic in UCLA about 3 years ago. I have been doing some research in stem cell therapy and I've found many articles and doctors that use this treatment and get significant result with no side effects.

Has anybody tried any of these theropies or knows anything about them?

Bellow is the website that provides the stem cell treatment withink the United States.

http://www.stem-cell-treatment-now.com/index.html

Any feedback or information will be greatly appreciated.

Can it affect one side of the body?

diane149 — Sun, 14 Jun 2009 17:19:51 GMT

I have a strong family history of myotonic dystrophy. On my mother's side she had 3 brothers with mild symptoms, 2 cousins with serious symptoms who died in their 30s and 40s. Each brother had one daughter with mild to severe symptoms. One is in her early 40s and bedridden.

We believed that my mother who died at 85 was not affected. However, I think I may see symptoms in my niece. She was a brilliant student in her elementary and middle school years. Now she has serious psychological problems, a very flat affect, excessive daytime sleepiness. She cannot go to school or hold a job. She's in her early 20s. She has muscle wasting in one ankle. Her family thinks it is due to an accident in which she injured her knees. She is in physical therapy and has had MRIs, etc.

My question is: can the muscle wasting occur on only one side of the body? Perhaps it is due to the accident. Perhaps the other symptoms can be explained another way. Her father (my brother) does not seem to be affected.

Thank you

neurogenic bladder

wenda — Sat, 30 May 2009 02:33:06 GMT

hello well i was wanting to know if anybody else that has myotonic dystrophy has been told that they have the neurogenic bladder and if it is also caused by the myotonic dystophy because now i have to have a catheter in just because of it so please help me out with it if you have some answers

question on repeat counts for DM2

klpatrick — Wed, 27 May 2009 05:55:18 GMT

Hi, My husband was tested through Athena diagnosics twice for Myotonic Dystrohpy Tpye 1 and 2 (not enough DNA the first time). Tpe 1 came back degative, Type 2 came back inconclusive. He was restesed and came back with the same repeats - 132 and 134 which according to their scale is normal . However, looking online other websites have a lower reading that would show him as a positive. He has myotonia, low testosterone, muscle cramps, definate calve cramps, daytime sleepiness, and I very stubborn. Anohther site says reading would be positive evern though Athena says negative, we're not sure where to go from here.
Has anyone else been through the numbers games?
Any info. is helfpful.
Thanks,
Kris Patrick

just looking for penpals

wenda — Tue, 26 May 2009 01:52:29 GMT

hello my name is wenda hines and i would like to have some penpals that have this mytonic dystrophy that way i could at least talk to them and go over the stuff that i don't understand and they might listen because i have a family that don't listen they just look at me and don't understand they think that i put alot of this stuff that is happen to me on they also don't understand the pain that i have and now that i'm in a wheelchair and have a catheter in because my bladder is contrated they still don't listen well you can email me at wendaj3hines@yahoo.com

Iplex for ALS patients. No mention of DM1

Pumpman — Mon, 18 May 2009 04:16:20 GMT

Hi, this is from the NY Times which dedn't even mention this as a treatment for Myotonic Dystrophy and the need our patients and us have for the drug. Its interesting information anyway...

Months to Live

Fighting for a Last Chance at Life

By AMY HARMON

Published: May 16, 2009

VIRGINIA BEACH As Lou Gehrigs disease sapped Joshua Thompson of his ability to move and speak last fall, he consistently summoned one question from within the prison of his own body. Iplex, he asked, in a whisper that pierced his mothers heart. When?

Skip to next paragraph

Enlarge This Image

Top, Casey Templeton for The New York Times

JOSHUA THOMPSON with his sons, Wyatt and Jordan, after his diagnosis, top, and before, with his wife, Joy, and Wyatt.

Quest for a Miracle

This is the first article in a series on the promises and challenges of extending, or ending, the lives of very ill patients.

Multimedia

Audio Slide Show

An Untested Last Hope

Iplex and Compassion (May 17, 2009)

Enlarge This Image

Casey Templeton for The New York Times

IN AN EFFORT to receive what they considered a promising treatment for his disease, Joy and Joshua Thompson even considered moving to Italy before learning the option was not viable.

Readers' Comments

Share your thoughts.

Iplex had never been tested in people with amyotrophic lateral sclerosis, the formal name for the fatal disease that had struck Joshua, 34, in late 2006. Developed for a different condition and banished from the market by a patent dispute, it was not for sale to the public anywhere in the world.

But Kathy Thompson had vowed to get it for her son. On the Internet, she had found enthusiastic reviews from A.L.S. patients who had finagled a prescription for Iplex when it was available, along with speculation by leading researchers as to why it might slow the progressive paralysis that marks the disease. And for months, as she begged and bullied biotechnology companies, members of Congress, Italian doctors and federal drug regulators, she answered Joshua the same way:

Soon, she said. Soon.

At a time when terminally ill patients have more access to medical research than ever before, and perhaps a deeper conviction in its ability to cure them, many are campaigning for the chance to be treated with drugs whose safety and effectiveness is not yet known.

But even as advances in areas like stem cells and genetics generate greater hope for experimental therapies, there is little consensus on how and when to provide them to dying patients whose lives could be prolonged, or shortened, by trying them.

Insurance companies typically do not pay for drugs that are part of a not-quite-finished scientific process. But even affluent families like the Thompsons find themselves pleading simply for the right to buy a drug, with institutions and individuals that often seem to them to have no logic and sometimes no heart.

Doctors worry about instilling false hope and doing unnecessary harm. Companies fear damaging a drugs chance of winning approval from the Food and Drug Administration if a patient suffers a bad reaction. The F.D.A. itself does not want patients to bypass clinical trials, which require that some participants receive a placebo to determine reliably whether a drug works.

Some patient advocates are lobbying for laws and policies that would sanction what has become known as the compassionate use of experimental drugs by seriously ill patients who have run out of other options. But for now, each appeal to the guardians of untested drugs is an improvisation, in which success relies on connections, determination, mercy and luck, and the hope of prevailing can sometimes eclipse the hope held out for the drug itself.

The Search for a Treatment

Kathy discovered Iplex deep in the pages of her first Google search for A.L.S. and treatment late one night in spring 2007, shortly after Joshuas diagnosis.

In the daylight, she still had trouble believing that her athletic, magnetic son had the devastating disease with an unknown cause, named for the 1930s New York Yankees star whose career was cut short by it. When Joshuas racquetball racket flew out of his hand because he could not grip it, his mothers diagnosis was tennis elbow. When the first neurologist mentioned A.L.S., she scheduled more tests, rooting for Lymes disease, multiple sclerosis or even cancer.

But an A.L.S. specialist at Johns Hopkins University, Dr. Jeffrey D. Rothstein, had confirmed it. Like the 5,600 other people given the diagnosis each year in the United States, Dr. Rothstein said, Joshua would almost certainly die of the disease in two to five years.

The doctor prescribed the only drug approved for A.L.S., Rilutek, which typically prolongs life by a few months. Joshua, he said, would be eligible to participate in a clinical trial for another drug, Arimoclomol, that would start as soon as the F.D.A. gave the go-ahead. There was nothing else.

Except, maybe, Iplex.

Kathy clicked her way through online news releases, blogs and scientific journal articles. Iplex, she learned, is believed to protect the motor neurons whose death leads to paralysis in A.L.S. Some patients had persuaded their doctors to prescribe the drug when the F.D.A. approved it in late 2006 for children with growth deficiencies.

I started on Tuesday, Debbie Gattoni, an A.L.S. patient in New Jersey, had written on a Web discussion forum, and on Sunday, I noticed that my right index finger, which was bent, was straightening and moving on its own.

But almost immediately, the drugs maker, Insmed, lost a patent infringement lawsuit to a biotechnology firm that was already selling a drug for short stature that had similar properties. Iplex , however, was thought to be more potent for treating A.L.S.

Insmed agreed to pull its drug off the market. Only the Italian Health Ministry, which had begun to distribute the drug to A.L.S. patients under a compassionate use program, could continue to buy it.

Kathy dashed off a letter to the F.D.A.

Is there any way we can get Iplex, she wrote, before it is too late for my son and others like him?

But the agency could not weigh in until Insmed agreed to make the drug available. And Insmeds hands were tied by the settlement agreement.

Mounting Physical Needs

In late July, Joshua fell in the street near Times Square on a trip to New York with his wife, Joy, and could not get up. Joy could not lift him, and passers-by did not stop. Finally, a homeless person watching from the corner came to help.

The event was traumatic for Joshua, who was beginning to experience another symptom of the disease, too, a lack of control over his emotions. At the weekly poker game with his friends, he could no longer bluff.

Page 2 of 4)

As Joy helped Joshua with his mounting physical needs and cared for their son, Wyatt, who had been born two weeks after Joshuas diagnosis, the couple pressed Kathy to explore Joshuas medical options.

Skip to next paragraph

Enlarge This Image

Casey Templeton for The New York Times

Joshua Thompson in his days as an avid surfer.

Quest for a Miracle

This is the first article in a series on the promises and challenges of extending, or ending, the lives of very ill patients.

Multimedia

Audio Slide Show

An Untested Last Hope

Iplex and Compassion (May 17, 2009)

Enlarge This Image

Casey Templeton for The New York Times

IN MARCH, Joshua Thompson received his first Iplex injection, from Dr. David L. Werwath. Thereafter Joshuas wife, Joy, left, and mother, Kathy, took over the daily duties.

Readers' Comments

Share your thoughts.

They decided he should try what seemed like the next best thing to Iplex the drug that had triumphed over it in the patent dispute. But the first neurologist they visited refused to give him a prescription.

This could cause hypoglycemia, he told Joshua, warning that low blood sugar could result in seizures or brain damage.

Ill take my chances of hypoglycemia over laying in the gutter, Joshua replied fiercely, but the doctor did not relent.

Kathy found another doctor to prescribe the drug, called Increlex. But she cried later when she read a blog entry by an A.L.S. patient who said he had experienced a seismic improvement on Iplex before it was withdrawn. The Increlex shots he was taking now felt like trying to get drunk on cough syrup when theres a case of bourbon locked in the closet, he wrote.

At brunch with her long-term boyfriend, Richard Stravitz, soon after, Kathy told him she did not want to play golf that afternoon, as was their Sunday ritual. As always these days, she could think only about trying to help her son.

I understand, she said, if you need to move on.

Mr. Stravitz, a sculptor and retired chairman of the meat processing giant Boars Head Provisions, shook his head.

I want to help, he said.

Involuntary twitches known as fasciculations signaled which of Joshuas muscles would be the next to go. His mother watched the disease spread from his right arm to his left arm to his left leg. A natural storyteller who had played toastmaster at friends weddings and charmed business associates with stories of his misadventures in surfing and snowboarding, Joshua began to slur his words in what is known as the A.L.S. accent.

Kathy, who had majored in biology before leaving college when she was pregnant with her son, ruled out traveling to Belize or China for stem cell infusions with no proven value. But she did pay $25,000 to send Joshua to a holistic health program in Arizona for a month. At the clinic, he had physical therapy and swallowed vitamin cocktails. He spent hours each day hooked to an intravenous tube to remove heavy metals from his body. But any improvement quickly dissipated on his return.

A few weeks later, the cancellation of the clinical trial that Joshua had been waiting to participate in came as a sharp blow. The F.D.A., the Thompsons were informed, wanted more animal research first.

We have to get Iplex, Kathy told Joshuas father, Bruce Thompson. Im going to find a way.

Divorced 20 years earlier, the Thompsons still sometimes shared holidays and vacations with Joshua and their younger son, Christopher, but they disagreed on how to approach A.L.S. Bruce had concluded there was little to be done medically. He proposed a trip to Europe, where Joshua had never been.

A hotel and restaurant developer who had been training his older son to someday take over his business empire, Bruce remodeled his guest house, where Joshua and his family had moved, to make it wheelchair accessible. And in December, tracing Joshuas irritability and depression to the cycle of raised and dashed hopes, he admonished Kathy not to mention to their son what seemed like an impossible long shot.

Let him live his life, Bruce urged her in a heated conversation. Dont give him false hope.

This isnt false hope, Kathy retorted. Its real. And its all we have.

Joshua did not go to Europe. But in February, he and Joy told their inner circle and that Joy was pregnant with their second child. Wyatt, the couple had decided, should have a sibling.

On hearing the unexpected news, one family friend gave Joshua a fist-bump.

I didnt know you could do that, he said.

Joshua laughed.

It seems to be the only thing thats still working, he replied.

Our Rights to Live

Adopting the online moniker FightingMom, Kathy haunted Web forums devoted to the disease. At night, after working full days at her own business, which manufactures filling for quilts, she exchanged messages with several dozen patients and caregivers who came to call themselves Team Iplex.

Fighting Mom, wrote Andrea Reimers, a nurse who was pursuing Iplex for her husband, Jim. It seems to me that there havent been enough cries from the A.L.S. community to demand our rights to live.

Mrs. Reimers thought a demonstration by dying people in wheelchairs might shake up the companies holding Iplex under wraps.

Her militancy emboldened Kathy, whose letters and calls to public officials took on a more insistent tone. But everyone told her it was a corporate matter.

(Page 3 of 4)

She also turned her attention to Italy, where the government was still spending several million dollars a year to buy Iplex for A.L.S. patients. A doctor there wrote to Kathy that she had seen very good results in almost 50 percent of the A.L.S. patients she had treated with Iplex over two years. Joshua and Joy were ready to move there, but the answer came back: only Italian citizens could receive Iplex through the program.

Skip to next paragraph

Quest for a Miracle

This is the first article in a series on the promises and challenges of extending, or ending, the lives of very ill patients.

Multimedia

Audio Slide Show

An Untested Last Hope

Iplex and Compassion (May 17, 2009)

Readers' Comments

Share your thoughts.

Joshs sadness is unbearable, his mother wrote one night in her journal, nearly a year after her sons diagnosis.

Unexpected encouragement came in a Mothers Day note from her ex-husband. You have given me some peace of mind that all potential options for Josh are being researched and acted upon, Bruce wrote. Thank you.

Kathys boyfriend accompanied her to Insmeds headquarters in Richmond, Va., offering to raise several million dollars to underwrite a compassionate use program for Iplex in the United States with A.L.S. patients. But the couple came away with a new understanding: F.D.A. regulations, they were told, prohibit any company from profiting on compassionate use. Even if Insmed could wriggle free of restrictions in the patent agreement, there was little financial incentive for it to invest in making the drug solely for compassionate use by A.L.S. patients.

Kathy was not surprised when weeks passed without hearing back.

Seizing an Opening

By July, Joshua could no longer lift his arms. Feeding him one evening, Kathy stifled a cry when she saw his tongue twitching as if it had large worms crawling inside it. Worse for her was the knowledge that he had felt the fasciculations, and known what they signaled: the end of swallowing, saliva control and speech.

I cant believe I may never hear him speak again, she wrote in her journal.

The best hope for regenerating the long nerves that control muscle movement, Kathy knew, were stem cell therapies still in very early stages of development. But if Iplex worked as hoped, it would slow the death of those nerves, perhaps sustaining Joshuas life long enough for a cure to come along.

That fall, a major study at the Mayo Clinic concluded that a hormone that is the active agent in Increlex and Iplex had no effect on people with A.L.S. But a leading researcher suggested that a drug like Iplex, which combined the hormone with a protein that could deliver it to cells more effectively, could have better results.

Kathy saw an opening. Genentech, the company that held the patent for Increlex, would now most likely have no market for its own drug among A.L.S. patients. Perhaps it would release Iplex from the restrictions of the patent settlement.

Aggie Wilson, the assistant who answered Kathys call to Genentechs chief executive, listened to her story.

His son keeps sitting on his lap saying Hello, Dada, waiting for Josh to say hello, Kathy said of Wyatt.

Ms. Wilson told Kathy that if she wrote a letter, she would personally deliver it to her boss.

Kathy did not wait for his response. The members of Team Iplex set a date for the protest: Veterans Day, at the Capitol in Washington. They let the drug companies know that dozens of news media outlets had been alerted.

Joy gave birth to a boy, Jordan, a few weeks later. And at the urging of his mother and his wife, Joshua assented to using a machine that enabled him to communicate with a speech synthesizer. A camera picks up small movements of his head as he types letters on a screen, tracking a reflective patch on his forehead.

Kathy and Joy watched him laboriously peck out his first words, anticipating an expression of gratitude or affection. Instead, the machine pronounced a playfully vulgar directive. Gleeful, Joshua hit the repeat button over and over.

The Saturday evening before the protest, Kathy found a letter in her e-mail. The competing companies had agreed to make Iplex available to A.L.S. patients worldwide on a compassionate use basis, pending the approval of the regulatory agencies.

On a crisp fall day, on the lawn outside the Capitol, Team Iplex handed out information about the disease, and celebrated. All they needed now was for their doctors to file a formal request for the drug with the F.D.A.

Safety Concerns

Joshuas doctor at Johns Hopkins, Jeffrey Rothstein, believed there was a rational logic for why Iplex might work. But the review procedure at Hopkins, he told Kathy, could delay getting the request to the drug agency. Instead, Kathy took the stack of paperwork to her sons local family practitioner, Dr. David L. Werwath, only to burst out crying in his office when he demurred.

He had never treated anyone with A.L.S., much less with an experimental drug.

But that evening, he called Kathy on her cellphone to tell her he had had a change of heart.

Look, Im a father, he said If it were my son or daughter, Id be doing the same thing.

The F.D.A. had a month to respond from the date it received Joshuas application on Dec. 16. When Joshua asked about Iplex now, Kathy told him, It should be any day.

On Jan. 16, when Dr. Werwath called to tell her the application had been rejected, she stood up in disbelief.

How could that be? she asked, dazed.

Kathys friend Mrs. Reimers had received a call with the same news.

He said they had safety concerns, Mrs. Reimers said. This for a drug that was approved for children!

Safety, Kathy repeated. And what, exactly, is safe about A.L.S.?

Appealing an F.D.A. Denial

Before the F.D.A.s decision, Kathy had spared little thought for any broader meaning of her quest for Joshua. But when she met with Richard A. Samp, a lawyer with the Washington Legal Foundation a week later, her outrage went beyond her son, and beyond Iplex.

The F.D.A. is supposed to protect American citizens, Kathy fumed over an iced tea in Williamsburg, Va. How does denying dying patients access to this drug serve the common good?

Skip to next paragraph

Quest for a Miracle

This is the first article in a series on the promises and challenges of extending, or ending, the lives of very ill patients.

Multimedia

Audio Slide Show

An Untested Last Hope

Iplex and Compassion (May 17, 2009)

Readers' Comments

Share your thoughts.

Mr. Samp had handled a lawsuit by a patient advocacy group, the Abigail Alliance, that had sought to establish a constitutional right for terminally ill patients to use experimental drugs. In the case, which the group had lost on appeal in 2007, the F.D.A. claimed that it granted nearly all requests for compassionate use.

They would first make an administrative appeal, Mr. Samp told Kathy, asserting that the F.D.A. had violated its own guidelines. If that failed, they could pursue litigation that might allow them to raise the constitutional question again in a federal court in Virginia.

But, he said carefully, that might continue for a number of years.

Because a lawsuit cannot continue if the plaintiff dies, Mr. Samp explained that it might require forming an organization to carry it forward.

Kathy stirred her iced tea.

Id like to do that, she said finally. This case could be important to lots of patients, even if Josh is no longer involved.

In its follow-up letter, the F.D.A. had indicated that its chief concern was that adequately controlled trials would become virtually impossible if it granted requests like Joshuas. In the appeal, Mr. Samp argued that Joshua and other A.L.S. patients, whose life expectancy was measured in months, would never have an opportunity to participate in such a trial.

Kathy had avoided telling her son that the drug agency had turned them down. His swallowing had deteriorated to the point that he choked after just two sips of an Orange Crush soda he asked his mother to bring him one night. When he finally agreed to have a feeding tube inserted in mid-February, his family viewed it as a statement that he wanted to live. But the tube also represented a new frontier in the heartbreak of A.L.S., which took away small pleasures every day, and sometimes big ones.

How cruel can you be? Bruce barked at his younger son, Christopher, when he unwrapped a hoagie in front of Joshua.

Mr. Samps foundation, a conservative public interest law firm, had agreed to work on the appeal pro bono for members of Team Iplex. Kathy tried to interest Andrea Reimers in joining her appeal. But after learning of the drug agencys decision, Mrs. Reimers said, her husband went into respiratory distress and now could barely breathe.

He died on Valentines Day.

Winning a Reversal

Kathy was pouring milk for her cereal on the morning of March 10 when Dr. Werwaths number flashed on her phone. The F.D.A. had just reversed itself, he said.

Before she could take a breath, Senator Mark Warners office called. E-mail bleeped in as the news seeped out.

In the weeks after the appeal, Kathy learned, the F.D.A. had reached out to Insmed. The agency had persuaded the company to run a clinical trial for Iplex with several dozen A.L.S. patients, and permitted it to recoup the hefty costs directly from participants. In the trial, some of the participants would get a placebo. That way, the F.D.A. wrote on its Web site, the next wave of A.L.S. patients would learn whether the drug was in fact beneficial or harmful.

But for now, the agency had ruled, Joshua and 12 other patients would be given Iplex outside of the trial, on a compassionate use basis, if they agreed to read all the data about the risks.

Who would pay for the drug, which Insmed said could cost $100,000 a year, was unclear.

Kathy called her daughter-in-law Joy and asked her to turn the speakerphone on. She reported the news, and smiled to hear Joy tell her that Joshua had raised his eyebrows, his sign of approval. Then she sat down at her kitchen table and gazed out at the ocean.

Oh my gosh, she thought for the first time. What if it doesnt help him?

Dr. Werwath arrived with Joshuas first vial of Iplex at 9:10 a.m. on Wednesday, March 25.

The doctor slipped on his gloves and showed Kathy and Joy how to extract the medicine with a needle. Then the women followed the doctor into Joshuas bedroom and watched him give the injection, which one of them would do daily.

Joshua slept most of the day.

But when Kathy visited a few days later, her son was sitting in a reclining chair in the living room, in good spirits. They watched the end of a college basketball game together. Around 11:30 the original Airplane movie came on.

Joshua smiled a lot. It made her smile too.

EPILOGUE: In April, Joshua signaled that he felt he was swallowing better, and to Joy and Kathy he seemed to be regaining tone in his voice. But on Easter Sunday, he was rushed to the hospital with pneumonia and is still on a ventilator. He continues to take Iplex every day.

Tubefeeding

caregiver — Sat, 16 May 2009 23:14:02 GMT

Just one more question of many...can somebody explain the pro's and con's of tubefeeding? We are haveing a challenging time finding foods that are nutritional and easily swallowed in order to decrease aspiration, expecially ones with enough calories. What are the different types of tubes? What are the good/bad experiences you have had with them?

MMD1 or MMD2?

caregiver — Sat, 16 May 2009 02:03:11 GMT

I was wondering if someone could help me with the distinction between MMD1 and MMD2? The person I care for has mental retardation and very slow progression of this disease. Does it make a difference in treatment options? Thanks!

Bowel Frustration

caregiver — Sat, 16 May 2009 01:36:21 GMT

I am a caregiver for a 40 year old man with MMD...I am very frustrated.
So, we have come to the conclusion that while he is diagnosed with urinary inconitence, he is not inconitent, he just does not get up to use the bathroom when he has to go, he goes in his diapers. But, not all the time. Sometimes he waits so long to go that he gets it all over his clothes and the bathroom. We have tried to help with this by reminding him to go whenever we come and go....but, sometimes I forget.

So anyway, it is the same thing with his bowels, wich needless to say is A LOT more frustrating. For instance, this is how today went...he got up this morning and I had him go in and sit on the toilet..nothing. We get ready to leave for the day and I tell him to go in and pee before we go and I go in to check on him, and he messed his diaper A LOT. So, we get him cleaned up. We go out and about, have lunch (have him go into the bathroom again after lunch) and get home, have him go in and pee, check on him...messed his diaper again. He sat it in for three hours and didn't tell me. Then I have him go and sit on the toilet after dinner before his shower...messed yet again, and I'm not talking a smudge, a whole bowel movement.
I am VERY glad he's going, because he has bowel witholding or constipation (I'm not really sure wich it is)...but I KNOW that he knows when he goes, he's very manipulative (he used to pretend he couldn't open a soda, among many many other things we have since learned he can do). Sometimes he'll say "I gotta go, Sue!" and I'll say OK! Head to the bathroom! But that's only when he wants to please (did I mention his mental age is around 8 or 6, sometimes, sometimes older).

I am just so frustrated with this behavior, and it his hard to understand why he does this....can he really just not help it? or is it a control thing? or does he just not care?....I just don't know. If it's truly a medical condition I'd like to get him the help he needs, and I've seen posts about pills helping and clinics.

If anyone has insight into this behavior, please please help me!!

Intl Myotonic Bulletin Board

Is it possible to only 'carry' the gene?

uncertainty

sudden acceleration of symptoms

Teen social emotional issues

have you seen this yet?

need help finding a handicap van

Stem Cell Therapy

Can it affect one side of the body?

neurogenic bladder

question on repeat counts for DM2

just looking for penpals

Iplex for ALS patients. No mention of DM1

Fighting for a Last Chance at Life

Multimedia

An Untested Last Hope

Related

Iplex and Compassion (May 17, 2009)

Readers' Comments

Multimedia

An Untested Last Hope

Related

Iplex and Compassion (May 17, 2009)

Readers' Comments

Multimedia

An Untested Last Hope

Related

Iplex and Compassion (May 17, 2009)

Readers' Comments

Multimedia

An Untested Last Hope

Related

Iplex and Compassion (May 17, 2009)

Readers' Comments

Tubefeeding

MMD1 or MMD2?

Bowel Frustration