Hannah’s fight against childhood rare disease
January 30, 2012 by Carrie
Filed under Bloggin' Mama, Rare Disease
Please "click" to find out how you can take action and help children still fighting!
Today is the World Rare Disease Day blog-hop, 30 days before World Rare Disease Day on February 29th. Dozen of rare disease bloggers across the world are coming together to share our personal stories of how childhood rare disease has affected our lives. (Please check out their stories below)
If you take a look at the statistics about childhood rare disease, the numbers are mind boggling. The ones that hit home for me were these.
- There are only about 50 children in the U.S. (few hundred world wide) with her form of Gaucher’s Disease, that is it! Extremely rare even by rare standards, which is a disease affecting less than 200,000 people.
- 30% of children with a rare disease will die by their 5th birthday. Hannah was 3.
- 75% of the 7000 rare diseases affect children. Hannah.
- Almost 80% of rare diseases are genetic in origin. Neuronopathic Gaucher’s Disease, Hannah.
When Hannah was first diagnosed at 5 months old, there was so very little about nGD out there. It was like finding needles in a haystack just to find any information we could sink our teeth into. But there was something about Hannah that made her family and I just want to fight like crazy for her. We wanted the people who could help her the most, the researchers and specialists, to be reminded of the faces behind this horribly rare disease. In our drive for awareness and answers, Hannah became one of the poster children for life-limiting rare diseases.
As I promised Hannah at her funeral service last month, ”Because of you, other families will be empowered to fight for their children. Because of you, doctors will have more compassion and resources when working with children with rare diseases. Because of you, communities will come together for reasons they never did before. ”
We are going to continue to fulfill this promise to her by actively helping other families with young child diagnosed with life-limiting rare diseases in Hannah’s name with our Little Miss Hannah Foundation at http://www.littlemisshannah.org.
It is amazing what one little girl has accomplished in the fight for rare disease awareness in her short life. To my Hannah: ”One of your biggest gifts, one of the reasons I believe that we were blessed to have you as our daughter, is the awe-inspiring changes you have made in the world. What you have done in three short years, most people, including myself, could never do in a lifetime. You have opened so many peoples eyes, from physicians to friends to strangers, and shown how important it is to fight for children like you, ones for whom today’s medical advances do not have a chance to save.”
The more people who learn about these specific childhood rare diseases, the more they will come to love these children affected by and realize that they desperately need more people fighting for them. There are very few rare diseases with celebrity spokespeople, millions of dollars in foundations, or rare diseases that are a household name where anyone would know what they are.
Before Hannah, thousands never even heard of Gaucher’s disease or have ever met and fallen in love with a child who would lose their life to a rare disease.
But because Hannah was here, because she fought so hard, all those people that loved her will continue to fight against life-limiting childhood rare diseases in her memory.
I love you, my little miss Hannah. The world is forever changed because of you.
Are Rare Diseases Approaching A Tipping Point?
December 8, 2010 by Carrie
Filed under Bloggin' Mama
Reprinted from the RareDiseaseBlogs.net:
The summer of 2010 saw remarkable activity related to the development of treatments for rare diseases. The U.S. Food and Drug Administration hosted a two-day public hearing for patient advocates, industry, academic researchers and others to voice their views on current procedures and possible ways to improve them.
The Senate HELP (Health, Education, Labor and Pensions) Committee also hosted a hearing, this one focused on rare pediatric diseases and how to accelerate the development of treatments for them.
New legislation introduced in the U.S. Congress this summer included two bills specifically related to rare diseases—one to remove a roadblock that might keep financially strapped patients from participating in clinical trials (the Improving Access to Clinical Trials Act), and the other to enhance incentives for development of drugs and biologics for children with rare diseases (the Creating Hope Act).
These events and actions might seem small and random to some, but I believe they may signal that orphan product development is approaching a “tipping point”—a point at which change becomes inevitable. And with rare diseases, where only about 200 of the nearly 7,000 known diseases have treatments, and many are not even being studied by researchers, change is a good thing.
Consider other current and upcoming events:
- A Rare and Neglected Diseases Caucus has just been launched in the U.S. Senate.
- FDA and NIH, with the help of NORD and Duke University, have created a Rare Disease Investigator Training Course to be offered for the first time in October. The course was “sold out” almost immediately after it was announced.
- NORD hosted focus groups of key stakeholders and found tremendous interest in rare disease research if appropriate ways could be identified to increase transparency and de-risk the process.
- FDA created an Assistant Director position to focus specifically on rare diseases in its Center for Drug Evaluation and Research.
- NORD in the U.S. and EURORDIS in Europe announced a partnership to encourage and facilitate global thinking among patients.
- Several “big Pharma” companies including Pfizer, Novartis and GSK have recently announced their intention to expand involvement in the rare disease space. While innovative small biotechnology companies should be applauded for all they have done to date, patients also welcome the interest of these larger pharmaceutical companies.
Malcolm Gladwell, who made “tipping point” a household word with his book (The Tipping Point: How Little Things Can Make a Big Difference) published 10 years ago, wrote that in any situation, 80 percent of the work will be done by 20 percent of the participants. These 20 percent, he wrote, are people with enormous gifts for communicating and inspiring.
They are also people who are driven by an overpowering sense of the importance and rightness of their cause. And that’s certainly true of those who are promoting progress in orphan product development on the scientific, advocacy, and regulatory fronts today.
I believe we may be approaching a tipping point in rare disease research and orphan product development. And, if that’s true, it’s wonderful news for the millions of people who have rare diseases for which there is currently no treatment.
Hannah’s Toy Box – My Work in Progress
November 10, 2010 by Carrie
Filed under Bloggin' Mama
The New York Times posted an article a few weeks ago about a young boy, Owen Cain, who was diagnosed with Spinal Muscular Atrophy, type 1. His family had spent thousands of dollars on assistive communicative devices over the years, but they were never able to find something that was a good fit for their family.
Until Owen’s nurse came over with an iPad.
Owen’s world changed. Not only is he able to play interactive apps, but he is also able to read books and play Air Guitar.
This hit so close to home for me! I have been working with Hannah on my phone’s piano app, but the screen is small and not very conducive to a toddler with poor fine motor skills. But that does not stop her. Our hope is to someday soon get her an iPad as well because there is a huge world of apps that I would love to try with her.
This article was my inspiration for starting this new blog. My goal is to share the information that I find on toys, equipment, software, media, and other technologies with other families of children with special needs. There is a world of items out there that I have yet to find, and I hope to be able to share all my treasures so that other families don’t need to search as well.
I would like to ask that all Hannah’s faithful followers to please take a visit to either the new blog or to Hannah’s new Facebook page (and ‘like‘ it) in hope to help me spread the news of this new venture! You are the first ones to check it out!
Creating Hope Act 2010 Bill Would Extend Priority Review Voucher System To Rare Pediatric Diseases
August 9, 2010 by Carrie
Filed under Bloggin' Mama, Legislation
** By Chris Hempel
Great news for the pediatric rare disease community came out late last week — rare disease advocates please get this out on your blogs!
Senators Sam Brownback (R-KS), Sherrod Brown (D-OH), and Al Franken (D-MN) are supporting the bipartisan bill S. 3697, the “Creating Hope Act of 2010.” Nancy Goodman, Executive Director of Kids v Cancer, is the person leading the charge on S. 3697 and a priority review voucher system for pediatric rare diseases.
In 2009, Nancy lost her son Jacob to a rare pediatric cancer called medulloblastoma. She is an inspiration to all in the rare disease community!
The Creating Hope Act of 2010 builds upon the Food and Drug Administration Amendments Act of 2007, often called the “treat and trade” program, which established a priority review voucher program for drugs or biologics targeting neglected tropical diseases. At the time this bill was passed, rare childhood diseases were excluded.
he Creating Hope Act of 2010 will encourage the creation of new drugs for underserved children like Addi and Cassi who suffer from serious and life threatening medical conditions by providing a priority review voucher (PRV) as an incentive to pharmaceutical companies who develop drugs for rare pediatric diseases like Niemann Pick Type C.
This is exactly the type of novel incentive system I have been asking for that could fast track cyclodextrin research. For example, with a PRV system in place, I could get a company like Johnson and Johnson to actually take on Niemann Pick Type C disease research and help me make a cyclodextrin drug for Niemann Pick Type C kids. In turn, Johnson and Johnson could receive a priority review voucher that gives them priority FDA review of another application that would otherwise be reviewed under FDA’s standard review clock.
This priority review voucher could be used for a blockbuster drug that a company would want want to bring to market and receiving priority review could mean millions of dollars to a Pharma or biotech company. This is why they would be willing to invest in Niemann Pick Type C research and cyclodextrin and help our small community bring a potentially life saving compound to market for kids like Addi and Cassi.
Since I already have an orphan drug application filed and approved with the FDA, having a priority review voucher system in place potentially makes Niemann Pick Type C an attract investment risk by Pharmas or BioTechs.
Priority reviews vouchers for pediatric rare diseases are a win-win for everyone! We need to rally the rare disease community to fight for the passing of S. 3697, Creating Hope Act 2010 bill.
Below are some key provisions of the S. 3697, Creating Hope Act 2010 bill:
- Extension to pediatric rare diseases: This legislation includes rare pediatric disease within the scope of the program. This category encompasses any disease that is “rare” within the meaning of the Orphan Drug Act (affects less than 200,000 people, or the cost of development would exceed revenue) is recognized in the medical community as affecting a pediatric population and is a new drug that has not received FDA approval for an adult indication
- Closing a loophole: This legislation would prevent companies from receiving a voucher for tropical disease products that they already market in other countries. This change will ensure that the program rewards only innovative treatments
- Unlimited transferability of vouchers: A voucher may now be transferred unlimited times provided that the transferee, in each instance of transfer, notifies the FDA of the change in ownership. This change enables drug companies to maximize the value of the voucher in the marketplace
- Optional upfront priority review designation process: Under the current law, sponsors do not know whether their new drug application will qualify for a voucher until the time of FDA approval. The proposed legislation permits sponsors of both tropical disease drugs and rare pediatric disease drugs to seek a designation that the new drug would qualify for a voucher, should it be approved, even before they submit their new drug application.
- Adds Chagas disease to the list of neglected tropical diseases: Chagas disease is responsible for more deaths in Central and South America than every other parasite-borne disease, including malaria. Yet, despite its profound impact, research and development of new treatments is severely underfunded. The addition of Chagas to the list of eligible diseases fulfills the intent of the original authors.
- Reporting and marketing requirements: The Creating Hope Act requires that the sponsor submit a statement of good faith intent to market the eligible drug, as well as a report describing the demand and distribution of the ultimate product.
The Scientist Magazine: A Rare Chance
February 3, 2010 by Mommy
Filed under Bloggin' Mama, Parkinson's Link, Pics and Videos
http://www.the-scientist.com/article/display/57100/By Alison McCook
A rare chance
Over the course of 5 days last summer, an army of researchers and clinicians examined, poked, and prodded 1-year-old Hannah Ostrea at the National Institutes of Health (NIH). Experts in neurology, rehabilitation medicine, physical therapy, speech pathology, and anesthesiology gave the little girl an EEG, a test of her heart’s electrical activity (EKG), an MRI, a CT scan, X-rays, and a throat exam (laryngoscopy). All this testing was meant not only to help Hannah but in the hope that her rare disease could reveal something about another condition that affects 1 million Americans: Parkinson’s.
Hannah has Gaucher’s disease, and within hours of her birth, it was obvious something was wrong. Looking past her thick head of dark hair, and the fact that she could down an entire bottle of formula in 5 minutes, clinicians quickly saw that her spleen was massive, and her platelet counts were rock bottom. Her liver was expanding—in a few months it looked like she had a volleyball in her stomach. These are the classic signs of Gaucher’s, a rare, recessive genetic disorder in which the body does not produce enough of a lysosomal enzyme that breaks down the fatty substance glucocerebroside, causing it to glob up in cells of the liver, spleen, and other organs—including, sometimes, the brain.
But researchers have never seen the combination of mutations Hannah carries, so doctors couldn’t determine if she had the Type 2 or Type 3 form. Children with Type 2 typically die before their third birthdays, while those with Type 3 can live much longer. “They [wouldn’t] give us a prognosis,” Hannah’s mom, Carrie Ostrea, says. “They came out and said that to us. Which is fine by me.”Hannah has many classic Gaucher’s symptoms, such as developmental delays, and the inability to easily shift her eyes from side to side or up and down. But she also has some puzzling symptoms. For one, she only blinks once every 30 minutes or so—“you’ll have a staring contest with her,” Ostrea laughs. This is not a symptom of Gaucher’s disease, but it is a symptom of Parkinson’s.
Indeed, in recent years, researchers have been noting more and more crossover between the two diseases, and the hope is that insights into one will reveal secrets of the other.
In an October issue of the New England Journal of Medicine, Ellen Sidransky at the NIH and her colleagues found that Parkinson’s patients were five times more likely to carry a mutation in the gene associated with Gaucher’s disease. Furthermore, Parkinson’s patients with the mutation in the Gaucher’s gene tended to develop Parkinson’s earlier, and were more likely to have family members with Parkinson’s (N Engl J Med, 361:1651–61, 2009). It’s unknown how many people have signs of both diseases, Sidransky notes, but it’s “clearly dozens and dozens.”
Still, Parkinson’s and Gaucher’s are more different than they are alike. One comes from a deficiency of the lysosomal enzyme that breaks down glucocerebroside, the other likely from a deficiency of dopamine, and it’s largely unclear why the two diseases are linked, says Sidransky. Perhaps the lysosome plays a role in Parkinson’s; the protein misfolding that underlies Parkinson’s may be aggravated by mutations in the Gaucher’s gene.
Gaucher’s itself is an interesting model for trying to understand single-gene diseases, Sidransky adds. She and her colleagues like to invite patients with rare presentations of a disease to the NIH to study them and hopefully learn something about an entirely different condition. “I’ve always been convinced that focusing on one thing and becoming an expert helps you see connections” between that one question you’re investigating and other unanswered—perhaps even more significant—questions.
The NIH visits can be long, but Hannah held up fairly well, her mother says. She didn’t like waking up from the EEG and being tied down, and didn’t like the heart ultrasound, but the neuro-ophthalmologist got her to laugh hysterically by turning his video camera around so she could look at herself. “She just thought that was the funniest thing in the world,” Ostrea says.
Genzyme to Evaluate to-BBB’s Technology for Delivering Biologics to the Brain
November 6, 2009 by Mommy
Filed under Bloggin' Mama, Gaucher's - News
This could be HUGE!!! I’m waiting to hear back from Genzyme to get more details — Cerezyme, Genzyme’s product, delivered to the brain! That could be what we have been waiting for!!!!
http://www.genengnews.com/news/bnitem.aspx?name=67331403
Nov 3 2009, 11:02 AM EST
Genzyme to Evaluate to-BBB’s Technology for Delivering Biologics to the Brain
GEN News Highlights
Genzyme and Netherlands-based to-BBB established a research collaboration to evaluate the use of the latter’s G-Technology™ to transport biologics against neurodegenerative diseases across the blood brain barrier (BBB).
G-Technology has been developed to transport different classes of drugs directly across this barrier using glutathione-coated liposomes. The company’s research partnership with Genzyme follows on from a similar agreement with MedImmune, signed in September.
Liposomal formulation allows the encapsulation of a wide range of compounds and biological molecules without changing their function and protecting them against degradation and immune responses, according to to-BBB. Coating liposomes with PEG further ensures a prolonged circulation time in plasma. Conjugation of glutathione to the tips of the PEG molecules targets the liposomes toward the active glutathione transporters on the blood-brain barrier, the firm explains.
to-BBB’s lead in-house project is 2B3-101, a G-Technology formulated doxorubicin, currently in preclinical development. A Phase I/II trial is expected to start during the second half of 2010. Additional preclinical-stage in-house projects are ongoing in diseases including Alzheimer’s and lysosomal storage diseases.
The Parkinson’s Disease – Gaucher Disease link
October 23, 2009 by Mommy
Filed under Bloggin' Mama, Gaucher's - News, Parkinson's Link
What we have known for a few months has finally started hitting the mainstream media now as well as some other medical sites. There are just a few….
Question is, now how can we capitalize on this and get the Parkinson’s community to start paying attention to our Gaucher kids?
Gaucher disease linked to Parkinson’s – Los Angeles Times
Mutant Gene Raises Risk of Parkinson’s (WebMD)
Glucocerebrosidase Mutations in Parkinson’s Disease New England Journal of Medicine (subscription)
Study Conclusively Ties Rare Disease Gene To Parkinson’s – Medical News Today
