Help Needed in Unlocking Lifesaving Treatments for Rare Diseases (Video)

Today’s featured video is about a baby girl who was diagnosed with GM-1 Gangliosidosis.

GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. The three types include: classic infantile (type 1), juvenile (type 2), and adult onset or chronic (type 3). Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types. This condition is caused by mutations in the GLB1 gene and is inherited in an autosomal recessive fashion.[1]


Little Fiona has type 1, the most severe form of GM1 gangliosidosis, diagnosed by six months of age.

Infants with this form of the disorder typically appear normal until their development slows and muscles used for movement weaken. Affected infants eventually lose the skills they had previously acquired (developmental regression) and may develop an exaggerated startle reaction to loud noises. As the disease progresses, children with GM1 gangliosidosis type I develop an enlarged liver and spleen (hepatosplenomegaly), skeletal abnormalities, seizures, profound intellectual disability, and clouding of the clear outer covering of the eye (the cornea). Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. In some cases, affected individuals have distinctive facial features that are described as “coarse,” enlarged gums (gingival hypertrophy), and an enlarged and weakened heart muscle (cardiomyopathy). Children with GM1 gangliosidosis type I usually do not survive past age 2.

Type II GM1 gangliosidosis consists of intermediate forms of the condition, also known as the late infantile and juvenile forms. Children with GM1 gangliosidosis type II have normal early development, but they begin to develop signs and symptoms of the condition around age 18 months (late infantile form) or 5 years (juvenile form). Individuals with GM1 gangliosidosis type II experience developmental regression but usually do not have cherry-red spots, distinctive facial features, or enlarged organs. Type II usually progresses more slowly than type I, but still causes a shortened life expectancy. People with the late infantile form typically survive into mid-childhood, while those with the juvenile form may live into early adulthood.

The third type of GM1 gangliosidosis is known as the adult or chronic form, and it represents the mildest end of the disease spectrum. The age at which symptoms first appear varies in GM1 gangliosidosis type III, although most affected individuals develop signs and symptoms in their teens. The characteristic features of this type include involuntary tensing of various muscles (dystonia) and abnormalities of the spinal bones (vertebrae). Life expectancy varies among people with GM1 gangliosidosis type III.

There is currently no cure or treatment for these diseases. In the United States,  research in the areas of enzyme replacement and gene therapy for GM1 gangliosidosis is ongoing but has not advanced to human trials. What’s the hold up? Why isn’t the research advancing? There’s an urgent need for a cure. The children who live with this disease are losing physical and cognitive abilities by the day. I know.

GM1 trials on humans are still years away.

There are currently some bills working their way through Congress that to help unlock lifesaving treatments:

HR 3737 the Unlocking Lifesaving Treatments for Rare Diseases Act

ULTRA S 606/HR 3059 the Creating Hope Act…
(In “Affiliation” box write: National Tac-Sach and Allied Disease)

H.R. 4132: FAST Act

 Congressman Cliff Stearns (R-FL), a senior member of the House Energy and Commerce Committee, says that “in 1992, the FDA created an Accelerated Approval process to make new drugs available earlier to treat serious diseases and fill an unmet medical need based on a surrogate endpoint. However, the modern FDA’s approval rate for drugs and medical devices has slowed immensely.  Last March, Rep Stearns along with Rep. Ed Towns (R-NY) offered H.R. 4132, the Faster Access to Specialized Treatments (FAST) Act. 
This measure codifies much of the Accelerated Approval regulations into statute and modernizes the program to reflect the amount of medical and scientific innovation that has occurred in the past 20 years.”  This streamlined Accelerated Approval pathway also will help the rare disease community.

“A rare disease in the United States is a condition that affects fewer than 200,000 people, and according to the FDA about 30 million Americans are afflicted with a rare disease,” said Stearns.  “Because the diseases are rare, there is a disparity in access to drugs and treatments for these rare diseases.  In addition, under normal market conditions there is no incentive for the pharmaceutical industry to develop and market drugs for patients suffering from rare and ultra-rare diseases.  That is why these drugs are called ‘orphan’ drugs.”

Late last year, Stearns and Towns offered H.R. 3737, the Unlocking Lifesaving Treatments for Rare-Diseases Act (ULTRA), to promote the discovery and development of safe and effective drugs and treatments to prevent, diagnose, or treat rare and ultra-rare diseases.  Said Stearns, “After getting input on ULTRA, we developed H.R. 4132 and we are working with the Energy and Commerce Committee leadership on adding it to the Prescription Drug User Fee Act (PDUFA) V, which will be considered by the Committee.”

The Creating Hope Act Passed in the House on May 31. 

WASHINGTON, D.C.— The U.S. House of Representatives tonight approved a bipartisan provision authored by Congressmen Michael McCaul (R-TX) and G. K. Butterfield (D-NC) that would incentivize pharmaceutical companies to develop new drugs for children withrare pediatric diseases, such as childhood cancers and sickle cell disease.  H.R. 3059, The Creating Hope Act of 2011, was passed as part of H.R. 5651, which reauthorizes various Food and Drug Administration (FDA) user fee programs for prescription drugs and medical devices.  If the Senate approves the measure, it would go to the president for his signature.

“There aren’t many bills that pass the House that give instant hope to so many people in need.  This one does,” said Congressman McCaul, founder and chairman of the bipartisan Congressional Childhood Cancer Caucus.  Countless numbers of children and their families who are unable to treat their disease because of a lack of adequate treatments are counting on this legislation, as will many more children who may one day learn that they have a life-threatening illness.  The Creating Hope Act offers the best chance of encouraging pharmaceutical companies to develop treatments for children at no cost to taxpayers.”

Hope is something in very short supply for parents of children with these rare,  fatal diseases. You can help by contacting your members of Congress to support the above legislation.

Why my sudden  interest in this subject, you ask? Simple.

I know someone who was recently diagnosed with GM1 Gangliosidosis,  type 2.

Meet Chris, my youngest:

Please share:


Linked by Ace of Spades HQ and Innocent Bystanders, and  Maggie’s Notebook, thanks!


Obama Signs FDA User Fee Legislation Bringing Hope to Rare Disease Patients
EveryLife Foundation for Rare Diseases Applauds Congress for Including Provision to Empower the FDA to Accelerate Approval of Lifesaving Treatments

July 10, 2012, Washington, DC – Yesterday President Obamasigned into lawThe Food and Drug Administration Safety and Innovation Act (FDASIA), S. 3187, bipartisan legislation that will spur the development of lifesaving treatments for 30 million Americans suffering from rare diseases.

“We are thrilled the language to improve access to the FDA’s Accelerated Approval pathway for rare diseases has been included in FDASIA,” said Emil Kakkis, MD, President, EveryLife Foundation for Rare Diseases.  “We wish to thank Representatives Cliff Stearns (R-FL) and Ed Towns (D-NY) for being champions for the rare disease community.”

Stearns and Towns first introduced Unlocking Lifesaving Treatments for Rare Diseases Act (ULTRA) to empower FDA to use all the science available for allowing surrogate endpoints in clinical trials for rare diseases to determine whether a drug is working, significantly decreasing the development time and cost.  Stearns and Towns later introduced Faster Access to Specialized Treatments (FAST) Act that improved Accelerated Approval for life-threatening diseases while maintaining high safety and efficacy standards.

FDA’s Accelerated Approval has been successful in getting treatments approved for cancer and AIDS patients, but has been essentially unavailable for rare disease treatments.  There are currently fewer than 400 FDA-approved treatments for nearly 7000 rare diseases.  Investment and interest in development will surge for rare diseases if there is access to the Accelerated Approval pathway.

“We would not have been successful if it were not for the great work of Energy and Commerce Chairman Fred Upton (R-MI), Biotechnology Industry Organization (BIO), and more than 300 patient organizations that advocated for improving the FDA’s regulatory process,” added Kakkis.




Zilla-Aid-Athon: Help a Sick Blogger Out

Zilla Aid!

Many of you know Marzilla of Zilla of the Resistance. She has a great conservative blog, and because of her warm, and generous spirit, she’s made many friends in the right-wing blogosphere.

For as long as I’ve known her, she has struggled with health and financial problems. For months, now she’s been fighting an infection that started in her tooth, and spread to her ears and sinuses. She also recently found out what it is that has been ailing her for years:

Beginning in the first week of January and going throughout February, I had been given six rounds of four different antibiotic medications to no avail, the infection that started in my tooth which had spread into my ear and my sinuses would improve after a couple of days of treatment and then revert back to horrible within a day or two of  the course of completion of each course of antibiotics. I have dangerous reactions to many of the most widely used antibiotic medications so doctors are limited in what they can prescribe to me. There was one very strong antibiotic medication that i am known to be able to tolerate that my dentist said we could try as a last resort if the 6th round of antibiotics failed, which it did, so I was given a ten day treatment with Levaquin that finally got the raging infection in my head under control. I finished that course about a week and a half ago and tomorrow I go back to the dentist to get something permanent put over that tooth, most likely we will try a simple filling because I can’t afford any of the other options right now (I don’t even know how I am going to pay for tomorrow’s appointment) and it is still possible that I’ll lose the tooth and the bridge it holds up some time in the future – but right now I don’t care, I just want the temporary filling replaced with something stronger before I get infected again. But a funny thing happened during all of this…

As I have explained before, I suffer from chronic pain due to nerve damage from injuries, ruptured discs and something else that has been misdiagnosed as a bunch of different things and that has plagued me for years. I have lived with most of these things for well over a decade, especially the problems with my hands, but the past few years and increasing especially in the past year, there have been new, painful, and frightening symptoms which have seriously messed up my life. I spend the first few hours of every day so crippled up from back pain that it is difficult to stand up straight, hard to walk, and just exhausting – sometimes these problems clear up after I’ve been up for a while, sometimes they don’t and I lose entire days of my life to pain and misery and am unable to do much of anything. Since last fall I have also been running low grade fevers and getting chills, on and off, throughout the day, every damned day. It has been hell.

I noticed that while I was on the various antibiotics I had to take this year for the infection in my head that within a few days of starting each treatment, my fevers and chills would stop and, for the first time in years, I would get some relief from the debilitating pain in my back and my bones, but within a few days of completing each course of antibiotics, I would be back to my usual misery, and sometimes even worse than before.

During the last round of antibiotics, with the ‘last resort’ medication Levaquin, for the first time in nearly 2 years, I actually felt much better; I still had the pain in my hands and feet that I will probably alsways have, but I had several glorious days when I woke up NOT feeling as if I had been hit by a train, I could stand up straight and walk with ease, and I wasn’t so freaking tired – I was actually able to get some things done around here and play more with my kids, I felt ALIVE! Sadly (and I daresay, predictably), a few days after completing that course of treatment, while my dental/sinus/ear infection were finally better, my body pain and exhaustion returned with a vengeance and has worsened with every passing day. So here I am now, with pain so bad that it has had me in tears on and off for two solid days (no, my pain does not normally make me cry but this time it is indescribably bad, scary and so damned frustrating), and depression from it all is really kicking my ass. But the temporary reprieve from the agony seemed to me an important clue to the mystery that torments me, so I brought it up the other day when I went to the pain management doctor.

To make a long story short — it turns out the poor thing has late stage lyme disease –

So the other day I told the new doctor about the strange thing which had happened to me while on the antibiotics for an unrelated issue. I also made sure to mention that I had been repeatedly infected with Lyme Disease. To my surprise, he did not look surprised, and he explained to me that there are different variants of Late Stage Lyme Disease, some of which respond to oral or IV antibiotics and some which don’t. He told me that the testing for it is very expensive and not covered by insurance but even then tests aren’t 100% accurate anyway so doctors like him go with the “if it looks like a duck, walks like a duck…” method for diagnosing such things and that my accidental temporary reprieve from the pain with antibiotics was a huge and useful clue. I explained how badly I was feeling since stopping the antibiotics and asked if he could provide more but he said that it is dangerous to keep taking them after I have already been on so many in such a short time and also that because I have such weird reactions to so many medications (and dangerous food allergies as well) that he needed time to do some research to try to find an treatment that might be helpful to me. He will see me again for a consultation in one month and until then, all I have is my regular pain meds which are not particularly helpful right now.

I am sure that my current flare up will ease at some point, and I am happy that I finally found a doctor who seems to understand (he had previously worked for 20 years on Long Island’s East End where Lyme Disease is also prevalent so he has experience with it) but it sucks that I cannot be given any treatment for it right now and it is very depressing to have had a taste of what “better” feels like and knowing that it’s not something I will be able to get hold of again in the immediate future. So that’s what’s going on with me, I am hurting badly, very tired, and more than a little bit depressed and frustrated. Hopefully the dentist appointment goes well tomorrow and is not too expensive, I wonder if I can convince the dentist to give me antibiotics again so I can get a few more days of feeling like a real person just one more time? I doubt it, but it would sure be nice as I hate feeling like this and my husband and children deserve so much better than the miserable, sad, me that they are stuck with right now (although I try my best to smile through it all when I think they are looking, it gets harder every day to do and there is so much that they are all missing out of because I just can’t do much) and I feel like I am failing them.

If I haven’t bored you away yet, thank you for reading, any prayers you could offer up for me and my family would be greatly appreciated. Hopefully the current flare up will ease a little soon so I can at least get you all some new blog posts you might enjoy reading, but be sure to check my Twitter feed and the A-C page for news info as I do try to post a little bit to those places daily no matter how badly I feel, you can also find lots of great stuff in the blogroll in the left-hand margin of this blog.

Update March 10, 2012 6:30 am:  Thank you to everyone who has been sending prayers and offering kind words of encouragement, they mean the world to me!

Thank you to those of you who kindly hit my tip jar, I truly appreciate it and feel better knowing that I will be able to give the dentist something towards my bill when I go there this morning to (hopefully) have them finish up the work on that one bad tooth!

As much as I hated going through the dental/sinus hell, it turns out that the whole nightmare was a blessing in disguise as the accidental improvement of my body pain while taking antibiotics for the infection in my head led to having a doctor finally understand what has been wrong with me for all of this time.

A host of conservative bloggers have united in an effort to raise money for Zilla, who is facing a mountain of medical fees. I have no doubt that she would do the same thing for a fellow blogger in need.

A smaller version of the blog badge you see at the top of this post can be seen on my right sidebar. Feel free to donate if you are inclined. Every little bit helps.

‘Cooking With The Troops’ In The News: CEO Interview (Video) + Veteran’s Day At NASDAQ

Cooking With The Troops is a program started by Bruce McQuain and fellow Blackfivers, Blake Powers and Bob Miller. Its mission is “to provide comfort, nutrition, and hope through four major programs.”

They’re holding a fund raiser that will run until Thanksgiving day.  You can donate, here.

It really is simple: Donate so we can help the wounded, their families, and the U.S. and Allied troops on the line.  There is no such thing as too small a donation, because they all can and do add up into something grand.  So, please don’t hesitate as all are appreciated and needed!

To give you an idea of what your donations can mean:
$10:  covers the costs of napkins for a typical event
$20:  covers the costs to feed a meal to a wounded warrior or family member at a European event
$50:  covers the cost of disposable plates for an event
$100:  covers the cost of drinks for a typical event
$250:  covers the cost for all paper goods at an event
$500:  covers most or all of the cost of meats for a typical barbecue
$1,000:  covers most or all of the cost of airfare to send a guest chef to a European event

Via Pundit Review:

We were honored to welcome the group’s CEO, C. Blake Powers, a fellow Blackfive blogger of Bruce’s, to Pundit Review Radio. Blake told us about the group, some of the great events they have held, including on Veterans Day at the NASDAQ. The reception that CWWT has received has been phenomenal. To keep things going, they need our support. You can help them and learn more by visiting their website.

Here’s C. Blake Powers talking about Cooking with the Troops:

Cooking With The Troops recently celebrated Veterans Day at NASDAQ:

How do you describe the indescribable?  In some respects, the event done by at the NASDAQ MarketSite by Cooking with the Troops and NASDAQ OMX truly was indescribable.  After all, how can one describe the feelings that come from bringing together veterans from WWII to present with those currently serving?  How can you describe the joy that came from being able to bring in those in uniform in to watch the cooking demos and for a magnificent lunch?  How can one say thank you to all who made it possible?

After all, this is a day that started with a surprise, and what a surprise it was.  Blue Nile, the leading online retailer of diamonds and fine jewelry, made it possible for wounded warrior Timothy G. Strobel to propose to his love Jennifer.  He was a medic who survived a great deal in Iraq, but was severely wounded in the leg.  He refused amputation of his leg, and has worked to walk again when told that it wouldn’t happen.  He met Jennifer during that time, and he credits her love and support for his recovery.  Blue Nile not only provided the ring and other items, but worked with Fox & Friends (you can see video of this from Fox here, tissue alert) to make the surprise happen.  Jennifer thought she was being interviewed because he couldn’t be present, then had Brian point out a video that was playing on the NASDAQ tower — in which Timothy held up five signs outlining his love for her.  As she was watching that, he came up, got down on bended knee, and proposed.  He later admitted in an interview that he was more nervous at that moment than during a firefight… Yes, that is Cooking with the Troops in the background, we were screening and trying hard not to let her know something was up (to say there was OPSEC on this is an understatement).

To top their morning off, NASDAQ and Cooking with the Troops provided the couple a special breakfast.  Chef Ellen Adams and Chef Kashia Cave prepared and served plates of chocolate chip pancakes, bacon, and strawberries on behalf of Cooking with the Troops.  The couple enjoyed the breakfast in a very special location prepared for them.

Read rest of report, here.

Again, if you can spare a few bucks for this worthy organization, the fund-raiser lasts until Thanksgiving. You can donate here.


Cooking With The Troops Fund-Raiser (With Video)

Bruce McQuain of The Washington Examiner, Qando, The Greenroom, Questions and Observations, Pundit Review and Blackfive, recently wrote me about a wonderful charity he and fellow Blackfivers,  Blake Powers and Bob Miller are involved with.  They started Cooking With The Troops, a program whose mission is “to provide comfort, nutrition, and hope through four major programs.”
McQuain wrote:
I was at their event at Brooke Army Medical Center in San Antonio Tx this summer and witnessed what they do first hand.  We fed 300 of our wounded warriors and their families for 2 meals at the Wounded Warrior Transition center.  They also kicked off their new Homefront program where they teach service members and their families how to cook good food on a budget instead of relying on fast food.
Here’s a video they made of the event:

The fund raiser will run from Veteran’s day (11th) to Thanksgiving day.  You can donate, here.

It really is simple: Donate so we can help the wounded, their families, and the U.S. and Allied troops on the line.  There is no such thing as too small a donation, because they all can and do add up into something grand.  So, please don’t hesitate as all are appreciated and needed!

To give you an idea of what your donations can mean:
$10:  covers the costs of napkins for a typical event
$20:  covers the costs to feed a meal to a wounded warrior or family member at a European event
$50:  covers the cost of disposable plates for an event
$100:  covers the cost of drinks for a typical event
$250:  covers the cost for all paper goods at an event
$500:  covers most or all of the cost of meats for a typical barbecue
$1,000:  covers most or all of the cost of airfare to send a guest chef to a European event

Expect a few more  posts from me,  pushing the program in the coming days, so they can expand to other military bases, etc.

Campaign To Defeat Barack Obama In Wisconsin Raising Money For Embattled Republicans

This message come via email from The Campaign To Defeat Barack Obama, who are in Wisconsin fighting the good fight:

Friends, we’ve sent a team to Wisconsin to fight back against Barack Obama and which are trying to RECALL six Republican legislators, and take control over the state legislature so they can both block Gov. Scott Walker’s agenda, and put the state in Obama’s “win” column for the 2012 presidential race.

Tomorrow we’ll send out our new TV ad for Wisconsin.  We’re frantically trying to raise money to get these TV ads seen in critical locations across Wisconsin.

Please make a contribution of  $25, $50 or $100 or, if you can afford it, a more generous contribution of $250, $500, $1,000 or more so we can fund these efforts against Barack Obama and and reach our goal.

We’re hoping 450 people can contribute $100 or more in the next 24 hours.  To support our efforts – CLICK HERE TO DONATE

It’s so important to realize that Obama’s team is up to their dirty tricks in Wisconsin so as to lay the groundwork for Obama to try to win Wisconsin for his 2012 presidential campaign.  Thanks to your help, we’re going to hand Obama, and radical leftists yet another DEFEAT in Wisconsin in just a few weeks time.

Please donate if you can.

Help Stop Obama,  a new conservative fund-raising website, was launched yesterday with the  mission is to raise money in support the Republican nominee to defeat President Obama in the 2012 presidential election.

John Hawkins, from Right Wing News, who helped create the organization, is asking conservatives to  “chip in some money, pass around the web page, and do your part to help get this PAC going.”

Launched by the activist team of Charlie Smith, former College Republican National Committee President; Kellen Giuda, New York City Tea Party co-founder and former Tea Party Patriots Board of Directors member; and conservative Blogger John Hawkins, Raising Red PAC and Raising Red Action Fund were born from a need for an innovative and forward-thinking political operation focused on candidates that will solve the problems that have been passed on to the Millennial Generation by decades of irresponsible politicians.

Charlie Smith, founder of Raising Red and former College Republican National Committee President said, “Yesterday, President Obama launched his re-election campaign, we want him to know that the results of the 2010 election were no fluke. The American people are fed up with his big-government agenda, and we’re not going to just sit around and watch while he drives this country into insolvency.”

In a political environment dominated by social and online technology, vibrant citizen activism, and new changes in campaign finance law, Raising Red PAC is focused on empowering concerned Americans to support a Republican nominee that will defeat and replace President Obama in the 2012 election, one in which the president is expected to raise $1 billion for his re-election effort.

“Our generation, our entire country, cannot afford four more years of the Obama administration’s debt-ridden agenda,” said Kellen Giuda, NYC Tea Party co-founder. “After leading tea parties and tea party rallies across the country since 2009, it’s clear that the time has come to channel that energy and take our country back. Raising Red gives us the tool to do that.”

Times are tough, but they’re going to get a lot tougher if we don’t stop this Cloward/Piven-driven, economy crushing wrecking ball we currently have as President. Please give if you can.

Cross-posted at Potluck and The Minority Report.