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.



27 thoughts on “Help Needed in Unlocking Lifesaving Treatments for Rare Diseases (Video)

  1. Pingback: Before It's News

  2. I will hold you and your family in prayer, Deb, and I will share this post. God willing answers will come! God bless you!


  3. Reblogged this on My Blog and commented:
    When your child has been diagnose with an illness it is heart wrenching, and quite frankly some illness are worse than others. Please keep this family in prayer and pass this along in any way that you can. And please do encourage our leaders to take action.


  4. Deb, my heart jumped to my throat as I read the last couple of sentences in your post. Then the tears that were already welling as I watched the little Fiona Midori video. You, Chris and your family will be in my prayers for cures, healing and strength.


  5. Pingback: Nice Deb is Looking for a Little Help « Innocent Bystanders

  6. You got an on-the-knees Lutheran prayer for this post.
    (We Lutherans assume that our prayers get bumped to the top of the queue when God is reading his mail.)


  7. Deb, there’s someone in Hawaii, Texas, Florida, California and Washington praying for you and your little guy…..and that’s just part of my family!


  8. Nice Deb,

    I am a regular lurker and sometimes poster over at Ace’s moron blog. 3 years ago my daughter was diagnosed with Mucolipidosis II (I-Cell disease) another Lysosomal disorder. I know the incredible pain you must be feeling. No one should ever outlive their child. I will share this with my support group on Facebook. The strange thing about lysosomal disorders is that while each one is usually quite rare, overall they account for a large amount of genetic syndromes.


  9. Pingback: Before It's News

  10. Just rescued your comment from the spam bucket, Matt. I’m very sorry to hear about your daughter. I’ll keep her in my prayers, too. There really is nothing more painful for a parent to go through – I can’t even begin to express how awful it is.. Thank you for sharing on FB.


  11. Pingback: Saturday Movie Matinee: “Follow The Ideology” « Nice Deb

  12. Pingback: Rare Disease Touches Family of Blogger Friend: GM-1 Gangliosidosis | Maggie's Notebook

  13. Pingback: Saturday Movie Matinee: “Follow The Ideology” | FavStocks

  14. As mother of a child with a rare disease, I understand the importance of developing treatments as quickly as possible. In my child’s case, very fortunately, an orphan drug was available to treat her condition, and today she’s thriving. I pray your child can receive new and effective treatments quickly.


  15. Oh, Deb – I’m so sorry to hear about your son’s diagnosis; I can’t begin to imagine how you are feeling right now. Please know that you and your entire family are in our family’s thoughts and prayers. If there is ANYTHING that we can do (even if it’s just an “internet shoulder” to cry on, please let me know.

    The “not knowing” – “What’s going to happen?” – is the hardest part. I know with Rebecca, I sometimes felt that if I could just somehow see into the future to know how everything was going to turn out, that I would be able to cope better. And then I realizes that “the future” might show me something that I really didn’t want to see.

    I’m sure that right now you are just living second to second – your life changed in an instant, and the future that you had “taken for granted” is now in question. Allow yourself to grieve that particular loss – it’s a very real thing. And allow yourself to rail at God if you find the need to – he’s always there, and will always love you, and He understands if you are upset with Him right now (He and I had some choice words 11 years ago….. 😛 ).

    Most of all, though take care of yourself and know that you are loved. ♥♥♥


  16. Thank you Teresa and Taxpayer and Adrienne, and everyone else for your kind words.
    I’m not angry at God, I’m thanking him for the privilege of having Chris for the short amount of time we’ve had him, and I’m praying that if it be His will, that we might have him a good while longer.. I believe everything is for a reason, and I’m praying for His help and guidance and forgiveness as always.
    God gave mankind the intelligence and ingenuity to cure diseases like this. Medical researchers have managed to produce some amazing cures folks never would have imagined 100 years ago. – I just need them to step it up a bit on their enzyme replacement research for GMI gangliosidosis.


  17. The prayers of God’s people avail much! My own little grandson was miraculously healed of West Syndrome this past year, the doctors could not figure it out! I’m praying for a miracle for your family as well.


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