Foundation NewsLine and Recent Website Updates
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Monica Marie Amanda Taillefer
August 5, 2009 - May 2, 2012
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| "Princess Monica" Taillefer on her 2nd birthday, August 2011 |
With broken hearts, we share the news that Monica Taillefer, the daughter of Simon Taillefer and Heather Patenaude of Quebec, Canada, has passed away. "Princess Monica," as we love to call her, was two and a half years old, far surpassing all expectations. Monica passed away at home in the loving arms of her parents, at 9:34 p.m. on Wednesday, May 2nd. Remarkably, Monica was also born on a Wednesday at 9:34 p.m.
From the beginning, persisting in the face of their baby's grim diagnosis of Niemann-Pick Disease Type C, Heather and Simon resolved to make every day and every moment special. The Patenaude-Taillefer family generously shared their family's story and photos with us to help raise funds and awareness for the fight against Niemann-Pick Disease, and through the seasons, little Monica's happy face has brought smiles to so many who never had the joy of meeting her.
Princess Monica's Celebration of Life will be held Saturday, May 12, at 9:00 a.m., at Saint-Joseph's Church, 16 York Street, Huntingdon, Quebec. In lieu of flowers, the family invites donations of teddy bears, which will be donated to the Shawinigan Hospital where Monica went weekly for care. The bears will be distributed to newborns or sick children with a message attached, "You have an angel princess named Monica watching over you." More details about the Celebration of Life
The family asks that any messages be directed to their personal email account.
Our deepest sympathy to Heather and Simon, their extended family, and many friends at this very sad time.
[May 3, 2012 mem]
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Update on Clinical Trial of Enzyme Replacement Therapy (ERT) |
The National Niemann-Pick Disease Foundation (NNPDF) has been staying in touch with representatives from Genzyme with regard to the status of Phase 2 of the Enzyme Replacement Therapy (ERT) clinical trial for Acid Sphingomyelinase Deficiency (ASMD) NPD Type B. It seems there has been some confusion among members of the ASMD community; please note that we have contacted Genzyme and confirmed that the Phase 2 trial has not been cancelled and the Genzyme/Sanofi Company is committed to the ongoing support of our NPD Type A and B patients and families.
Genzyme has advised that they are still actively preparing for a Phase 2 clinical trial for enzyme replacement therapy in ASMD/NPD Type B. The trial is expected to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks.
The program remains a key priority for Sanofi. They are committed to the Niemann-Pick community and have provided the NNPDF with the following update on the Genzyme-sponsored Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials.
If you have any questions regarding this update ~ please feel free to contact the NNPDF Central Office at: 1-877-287-3672. The NNPDF will continue to bring you more information as it becomes available.
Kind regards,
Nadine
Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials
Genzyme, a Sanofi company, is continuing efforts to develop recombinant human acid sphingomyelinase (rhASM) for the potential treatment of the non-neurological manifestations of acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).
We are actively preparing for a Phase 2 clinical trial of rhASM in Niemann-Pick B patients to evaluate the safety and efficacy of different doses of rhASM when administered once every two weeks. In preparation for the trial, we have sought feedback from the FDA, are evaluating potential study centers worldwide, and are assessing our short- and long-term manufacturing plans.
We are also beginning to schedule the long-term follow-up visits for the natural history study of Niemann-Pick B patients that began in 2001 in the US, France, Italy, Germany, and Brazil. These vists are expected to yield important information about disease progression in the absence of treatment and may be included in a potential drug application filing in the future.
Our entire organization, from the Genzyme rare disease team to our colleagues at Sanofi, is committed to the development of rhASM and to addressing the unmet medical need of patients with ASMD.
We appreciate the support of the global Niemann-Pick disease community and will provide another update as soon as we are able to confirm a start date for the Phase 2 clinical trial.
Genzyme
500 Kendall Street
Cambridge, MA 02142
www.genzyme.com
[Apr 26, 2012 mem]
Olympic Silver Medal Winner Champions the Cause of Rare Diseases
Adam Nelson, two-time Olympic silver medalist shot-putter, has embraced the cause of rare diseases as he works his way toward the 2012 Olympic games in London.
Alan Abrahamson, writing for 3 Wire Sports, posted this story about why Nelson wants to use this opportunity in the limelight to create awareness of the one in ten people affected by a rare disease. There are over 7,000 diseases identified as rare, affecting 30 million Americans.
The story features, among others, Addi and Cassi Hempel, twin daughters of Hugh and Chris Hempel, and their battle against Niemann-Pick Disease Type C (NPC).
[Apr 26, 2012 mem]
Pediatric Blood Draws Support NPC Research
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Two recent pediatric blood draw events coordinated by NNPDF families are supporting important research into a blood test to diagnose Niemann-Pick Disease Type C (NPC).
Karen Quandt, mother of 15-year-old Ty Quandt (NPC), organized a blood draw in Puyallup, Washington, to collect samples from healthy (non-NPD) teens to serve as pediatric control samples (top two photos). Rebecca Merrill Spencer, mother of 6-year-old Johnathan Spencer (NPC), organized a blood draw in Gilroy, California, in which samples from younger non-NPD children were drawn (bottom two photos).
Between the two events, a total of 82 healthy children and youth, ages 3 to18,
heroically rolled up their sleeves to provide blood samples for research!
The diagnostic blood test in development is expected to provide a faster, easier and more comfortable method than the current skin punch biopsy diagnostic test, and will allow newborn screening for NPC. The research on the new blood test is being done at the National Institutes of Health (NIH) in Bethesda, Maryland, and at Washington University School of Medicine in St. Louis, Missouri.
Dr. Daniel Ory of the Washington University School of Medicine offered his thanks and appreciation, stating, “On behalf of the research team working towards the goal of developing a newborn screen for NPC, I offer my heartfelt thanks for your outstanding efforts with the blood sample drives. These samples are very important because they will help us establish reference ranges for the screen, and will speed up our work.”
Read this Gilroy Patch article by Ann Krueger Spivack about the Gilroy event, and the many volunteers, donors and little heroes who made the blood draw such a big success:
http://gilroy.patch.com/articles/amazing-turnout-for-juvenile-blood-drive-to-fight-npc#photo-9695762
Thank you to Karen, Rebecca, the volunteers, and especially the brave young donors, for participating in this important research project!
[Apr 23, 2012 mem]
Joshua Jaylon Garcia
2/2/90 - 4/13/12
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| Joshua Jaylon Garcia (NPC) |
With great sadness, we pass along word of yet another young life lost to Niemann-Pick Disease Type C. Joshua Jaylon Garcia, the son of Michelle Pino of San Felipe Pueblo, NM, and Tony Garcia of Albuquerque, NM, lost his battle with NPC on April 13, at the age of 22 years.
In addition to his parents, Joshua leaves behind a younger sister, Alicia, grandparents, aunts and uncles, cousins, and other relatives and friends.
Our deepest sympathy to Joshua's family and friends in their loss.
[Apr 19, 2012 mem]
James "Wilson" Speakmon-Coleman
4/8/93 - 4/1/12
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We are very sad to report that James "Wilson" Speakmon-Coleman has passed away from the effects of Niemann-Pick Disease Type C (NPC). The son of David P. Coleman and Theresa Speakmon-Coleman, both of Portland, Oregon, Wilson was one week short of his 19th birthday. In addition to his parents, Wilson is survived by his younger brother, Thomas, grandparents, and other relatives and friends.
Services will be held Tuesday, April 10, at 1:00 p.m., at Mt. Scott Funeral Home, 4205 SE 59th Ave., Portland. The family has requested that memorials be made to the NNPDF in Wilson's memory.
Our deepest sympathies to the Speakmon-Coleman family at this very sad time.
[Apr 9, 2012; mem]
Kaitlyn Kay Bourgeault
7/1/09 - 3/22/12
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| Kaitlyn Kay Bourgeault (NPA) |
With heavy hearts, we share the news that Kaitlyn Kay Bourgeault, the daughter of Deanna and Chip Bourgeault of Indian Trail, North Carolina, passed away today due to the effects of Niemann-Pick Disease Type A (Acid Sphingomyelinase Deficiency or ASMD).
Kaitlyn and her family have touched and inspired so many with their strong faith and the support of their loving community, sharing their story and poignant photos through their family's blog, Kaitlyn's Korner.
The service details are as follows:
Heritage Funeral Home - Forest Lawn East; 3700 Forest Lawn Drive; Matthews, NC, 28104.
Sunday, March 25 - 4:00 - 6:00 p.m. - Visitation for family and friends; 6:30 p.m. Memorial service for family, friends and neighbors; Monday, March 26 - 9:00 a.m. - Private graveside burial for family only
The family has asked that in lieu of flowers, donations may be made to the NNPDF in Kaitlyn's name.
Our deepest sympathy goes out to Chip and Deanna, and all of Kaitlyn's family and many friends.
[Mar 22, 2012 mem]
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"Accelerated Approval" Language Incorporated into Proposed Legislative Act
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In a significant accomplishment for the rare disease community and a major step toward spurring the development of effective and potentially lifesaving treatments, rare disease "accelerated approval" language has been incorporated into the draft of the U.S. House of Representative's Prescription Drug User Fee Act (PDUFA). More than 140 patient organizations, including the NNPDF, and 2700 advocates have lent their voices in support of this, to bring FAST (Faster Access to Specialized Treatments)(known as ULTRA in a previous version) to this point.
The language from FAST/ULTRA that was incorporated into the PDUFA:
Under Subtitle D -- Accelerated Approval, Page 186, line 16:
"(taking into account the severity or rarity of the disease or condition and the availability of alternative treatments) that the product has an effect on -- (A) a surrogate endpoint that is reasonably likely to predict clinical benefit; or (B) a clinical endpoint, including an endpoint that can be measured earlier than irreversible morbidity or mortality, that is reasonably likely to predict an effect on irreversible morbidity or mortality or other clinical benefit. The evidence to support that an endpoint is reasonably likely to predict clinical benefit may include epidemiological, pathophysiologic, pharmacologic, therapeutic or other evidence developed using, for example, biomarkers, or other scientific methods or tools."
Page 191, line 3:
"Considerations. -- In developing the guidance...the Secretary shall consider...for drugs designated for a rare disease or condition under section 526 of the Federal Food, Drug and Cosmetic Act; and (2) how to incorporate novel approaches to the review of surrogate endpoints based on pathophysiologic and pharmacologic evidence in such guidance, especially in instances where the low prevalence of a disease renders the existence or collection of other types of data unlikely or impractical."
Members of the rare disease community are encouraged to contact their members of Congress to ask for their support of FAST and those affected by rare diseases.
To learn more about efforts to speed approval of new therapies for patients with serious and life-threatening diseases, see this article from National Organization for Rare Disorders (NORD) , and this article posted by the Kakkis Everylife Foundation.
The Rare Disease Legislative Advocates' Web site offers links to contact your representatives in Congress to urge their support of FAST.
[Mar 21, 2012 mem]
Blood Draws to Support NPC Research
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Two blood draws coordinated by NNPDF family volunteers will support research into a blood test to diagnose Niemann-Pick Disease Type C (NPC). The diagnostic blood test is expected to provide a faster, easier and more comfortable method than the current skin punch biopsy diagnostic test.
Karen Quandt, mother of 15-year-old Ty Quandt (NPC), organized a blood draw earlier this month to collect samples from healthy (non-NPD) teens to serve as pediatric control samples (see photos above). Rebecca Spencer, mother of 6-year-old Johnathan Spencer (NPC), is organizing a blood draw for April, in which samples from younger non-NPD children will be drawn for the same purpose.
The research is being done at the National Institutes of Health (NIH) in Bethesda, Maryland, and at Washington University School of Medicine in St. Louis, Missouri.
Thank you to Karen, Rebecca, the volunteers, and especially the donors, for participating in this important project!
[Mar 20, 2012 mem]
Adelaida Kay Van Meter
6/13/10 - 2/29/12
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| Adelaida Van Meter (NPA) |
We are very sad to report that we have received word of the death of little Adelaida Kay Van Meter, at the age of 20 months, due to Acid Sphingomyelinase Deficiency (ASMD), i.e., Niemann-Pick Disease Type A.
The daughter of Murro Van Meter and Sophia Fox of Massachusetts, "Adelaida loved everyone and everything," writes her mom. "She especially loved singing songs, baby dolls, reading books, and going on adventures. No one ever told Adelaida she wasn’t supposed to be the happiest little girl in the world! Her vibrant personality brought joy to the lives of her family and friends. Adelaida was an old soul. Words cannot express how she will be missed. There will be an enormous emptiness for a long time."
To read and see more about Adelaida's beautiful, too-short life, read the March 11 post at the Bourgeault family's blog, Kaitlyn's Korner.
Our deepest sympathy goes out to Adelaida's family and friends in their loss.
[Mar 19, 2012 mem]
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20th Annual NNPDF Family Support and Medical Conference |
The 20th Annual NNPDF Family Support and Medical Conference dates have been announced! The conference will be held from Thursday evening, August 16, to Sunday, August 19. The conference site will be the beautiful Sheraton Music City Hotel, 777 McGavock Pike, in "Music City," Nashville, Tennessee.
More information and registration details will be available soon, but for now, mark your calendar for August 16th through the 19th, as the time to meet with other NNPDF families, as well as top medical and research experts, to learn the latest news and share in the NNPDF family network of support.
Watch the NNPDF's Family Conference Web page for more information about the Family Conference as it becomes available. In the meantime, check out all Nashville has to offer at the Nashville Convention and Visitors Bureau. Nashville - Music City -- "Music calls us home."
(Image courtesy of Nashville Convention and Visitors Bureau.)
[Mar 19, 2012 mem]
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Request for Applications for Edward H. Schuchman Research Fellowship
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The National Niemann-Pick Disease Foundation invites applications for a postdoctoral research fellowship examining the biology of Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease), a lysosomal storage disease of varying symptoms, onset and complexity.
M.D., Ph.D., and/or D.V.M. postdoctoral fellows are eligible to apply for funding to improve our understanding of the biology and pathogenesis of Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease). Preference will be given to research projects developing new therapies for ASMD, and for identifying biomarkers to improve diagnosis or to monitor disease progression and efficacy in clinical trials.
The fellowship provides support of $40,000 per annum for two years and may be renewable based on performance. Applicants must be currently associated with a recognized laboratory.
This fellowship is named for Edward H. Schuchman, Ph.D. a pioneer in ASMD research, and supporter of those affected by Niemann-Pick Disease.
Applications are due May 1, 2012, and should be submitted by email to the Research Committee Chair. Applicants will be informed of the funding decision by August 15, 2012, via email. Fellowships awarded will begin September 1, 2012.
More information and application procedures.
[Mar 9, 2012 mem]
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Request for Applications for Peter G. Pentchev Research Fellowship
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M.D., Ph.D. and D.V.M. postdoctoral researchers are eligible to apply for funding to improve our understanding of the biology and pathogenesis of NPC disease. Preference will be given to research projects developing new therapies for NPC, and identifying biomarkers of disease activity for diagnosis and clinical trials.
The Pentchev Fellowships provide support of $50,000 per year for two years and may be renewable based on performance. Applications are due May 1, 2012, and fellowships awarded will begin September 1, 2012.
Visit http://www.nnpdf.org/npresearch_01.html and http://www.nnpdf.org/PeterPentchevResearchFellowship.html for more information about the NNPDF ’s program of research and the application process for the Pentchev Fellowship.
Read about current and past NNPDF-funded research projects at: http://www.nnpdf.org/FellowshipsFunded.html.
[March 1, 2012 mem]
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The National Organization for Rare Disorders (NORD) has developed an online form where YOU can submit a request to your elected officials alerting them as to WHY RARE Diseases are important to you. Follow this link to submit a letter to your representatives! http://www.capwiz.com/rarediseases/issues/alert/?alertid=60995636&PROCESS=Take+Action Thank you for your efforts as we work to PERSEVERE in our Quest for a Cure! Nadine |
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[Feb 29, 2012 mem]
Jeans for Genes
Rare Disease Day Awareness
Wednesday, February 29, 2012
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Students at Mt. View School in Puyallup, Washington, wear "jeans for genes" for World Rare Disease Day, in honor of their friend, Ty Quandt. Ty, the son of Karen and Gene Quandt, is affected by Niemann-Pick Disease Type C. Karen is at the far left of the back row, and Ty is at the far right of the same row.
Rare Disease Day is being marked all over the world today, Leap Day, February 29, 2012. Activities to raise awareness of rare diseases run the gamut from Facebook postings and "Tweets" to petitioning lawmakers to dedicate funding for research into rare diseases.
Visit the NNPDF's Rare Disease Day page for more ideas on how to raise your voice for Niemann-Pick Disease awareness.
[Feb 29, 2012 mem]
Rare Disease Day
Leap Day - February 29, 2012
An opportunity to raise awareness
and to give somebody special a hug!
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World Rare Disease Day seems a fitting time to highlight a special video/slideshow montage of some of our NNPDF member families. The music video, created to honor the love and support of family relationships, is set to an upbeat song from singer/songwriter Rachel Taylor, titled "Here for You Always." Rachel is the cousin of Lorna Tyrrell (mom to Naomi, NPC).
Listen to "Here for You Always" once, and we guarantee you will be humming its catchy tune the rest of the day! :-)
See the video on YouTube, then go hug someone rare and unique!
For more of Rachel Taylor's music, visit www.racheltaylormusic.com.
For more about World Rare Disease Day, visit our special page.
[Feb 28, 2012 mem]
Countdown to World Rare Disease Day
on the Ultimate Rare Day -- Leap Day!
Wednesday, February 29
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| Five-year-old Johnathan Spencer (NPC) is raising awareness for NPC and World Rare Disease Day. |
See our Rare Disease Day page for lots of cool ideas on how you can join Johnathan in raising awareness for rare diseases such as Niemann-Pick on the 5th Annual World Rare Disease Day, February 29, 2012.
[Feb 23, 2012 mem]
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As we draw closer to World Rare Disease Day on Leap Day, February 29, we want to remind you that there are many simple ways you can get involved and help raise awareness and funding for those affected by rare diseases, including Niemann-Pick Disease..
One super-easy way to raise awareness is to right click the Rare Disease Day logo above, copy it, save it, and use it as your Facebook profile photo.
Help NORD Raise Funds for Rare Disease Research with One Click
Here's another -- Pharmaceutical company Lundbeck is donating $1 to the National Organization of Rare Disorder's research program (up to a total of $10,000) for each click on the Raise Your Hand for Rare Disease Research symbol again this year. This campaign has already made possible two important studies of rare diseases. It's easy to share the Raise Your Hand symbol with your friends on FB/Twitter. And it supports studies that bring hope to patients and their families.
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And here's another fun way to recognize World Rare Disease Day: Join NORD's Handprints Across America Campaign.
Rare Disease Day at NIH raises awareness and highlights cutting-edge research
The National Institutes of Health (NIH) will celebrate the Fifth Annual Rare Disease Day with a day-long celebration co-sponsored by the Office of Rare Diseases Research - National Center for Accelerating Translational Research, and the NIH Clinical Center. The event will recognize rare disease research activities supported by several government agencies and advocacy organizations.
Dr. Denny Porter of the National Institutes of Health (NPC expert and well-known to many NNPDF families) along with two other representatives from the TRND team, will be presenting information about the upcoming cyclodextrin trial for Niemann-Pick Disease Type C.
Attendance is free and open to the public and the media, and pre-registration is encouraged. In association with the Global Genes Project (a grassroots effort to use jeans to raise awareness for rare genetic disorders), organizers urge all attendees to wear their favorite pair of jeans.
Those interested can read the NIH press release and learn more at http://rarediseases.info.nih.gov/RareDiseaseDay.aspx (including links to the full agenda and to register for the event).
Notre Dame's Center for Rare and Neglected Diseases to Host World Rare Disease Day Dinner
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If you're not close enough to attend the Notre Dame Center's event, consider hosting your own Rare Disease Day dinner, or invite a few friends to go out, and use the opportunity to tell your family's rare disease story.
Please visit http://www.nnpdf.ca/WorldRareDiseaseDay.html and http://rarediseaseday.us/ for more great ideas on maximizing the opportunity of World Rare Disease Day for the benefit of those affected by Niemann-Pick Disease! Let us know what you have planned and send us a photo if you can.
[Feb 21, 2012 mem]
Gabrielle Christine LaVerde
8/24/2001 - 2/17/2012
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| Gabrielle LaVerde (NPC) |
It is with great sadness we report that Gabrielle LaVerde has passed away at the age of 10 years due to the effects of Niemann-Pick Disease Type C. Gabrielle is survived by her parents, Danielle LaVerde and Joseph LaVerde, and other relatives and friends.
The visitation for Gabrielle will be Tuesday, February 21, from 5:00 until 7:00 p.m. at the Oaklawn Chapel of Baldwin-Fairchild Funeral Home, 5000 County Rd. 46A, Sanford, Florida. Funeral services will be Wednesday, February 22, 2012, at 3:00 p.m. at Westview Baptist Church, 4100 County Rd. 46A, Sanford. The Baldwin-Fairchild Funeral Home is assisting the family.
The Daytona Beach News-Journal posted this story about Gabrielle's life and battle with NPC.
We extend our deepest sympathy to the LaVerde family in this very difficult time.
[Feb 20, 2012 mem]
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NORD Supports |
U.S. Senator Kay Hagan (North Carolina) introduced the Transforming the Regulatory Environment to Accelerate Access to Treatments (TREAT) Act on February 15, and the National Organization for Rare Disorders (NORD) has issued a press release in support of it.
Senator Hagan's statement describes the bill thus: "This bill empowers the Food and Drug Administration to ensure consistent processes and a clear and effective pathway that will encourage the development of innovative treatments to benefit patients, particularly subpopulations and those with rare diseases, and improve the public health."
NORD supports this proposed legislation which, among other things:
- enhances and codifies the accelerated approval process
- addresses concerns of the rare disease community related to conflict of interest provisions
- provides greater clarity, consistency, and transparency in review processes
- encourages innovation and adoption of modern scientific tools in regulatory science
Senator Hagan's statement mentions the flexibility study conducted by NORD earlier this year and the need to ensure uniformity in the application of flexibility.
NORD's press release, including the text of Senator Hagan's statement
[Feb 16, 2012 mem]
Robbins Family Featured on NBC
Milledgeville, Georgia
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| Riley Robbins (NPA) |
The family of little Riley Robbins (NPA) was recently featured on their local NBC affiliate, WMGT Channel 41, with reporter Ashley Minelli. Riley is the son of Christopher and Lori Robbins of Milledgeville, GA, and little brother to Christopher, Jr. The Robbins family lost a daughter, Faith, to NPA, at the age of 19 months.
Read the story and view the video about Riley's fight against Niemann-Pick Disease Type A (ASMD).
[Feb 15, 2012 mem]
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NIH Clinical Research Trials and You |
The NIH (U.S.) recently announced the launch of a new Web site titled NIH Clinical Research Trials and You, geared for those considering participating in a clinical trial.
According to the press release announcing the new site, "Clinical trials are essential for identifying and understanding ways to prevent, diagnose, and treat disease. Research has shown that among the greatest challenges to recruitment of volunteers is the lack of general knowledge about what trials involve, where they are carried out, and who may participate."
This new Web site aims to help potential participants learn about clinical trials and make an informed decision about whether they should take part. The site includes sections on "The Basics," "Volunteer Stories," "Researcher Stories," "Finding a Trial." Also, "For Health Care Providers," "Educational Resources," a glossary of terms, and much more.
Visit the new site at http://www.nih.gov/health/clinicaltrials/ to learn more.
[Feb 14, 2012 mem]
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Partners Around the Globe to Join in Rare Disease Day 2012 |
On the ultimate rare day---February 29th---millions of people around the world will be observing Rare Disease Day. Patient organizations, government agencies, research centers and companies who have signed up as "Rare Disease Day Partners" (including the CCNNPDF/NNPDF), will join in supporting the day!
"This year marks the 5th anniversary of Rare Disease Day," said Peter L. Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD). "The event has grown every year and was observed in more than 60 nations last year. The purpose is to raise awareness of rare diseases as an important public health issue."
Across the world, patients and their families will share their stories. Rare Disease Day Partners will host special awareness events and activities. And, all over the world, supporters will be voicing the same themes:
- Rare diseases affect millions of people.
- Getting a diagnosis is difficult and often takes many years.
- Most rare diseases have no treatment.
- Many rare diseases are not being studied by medical researchers.
- More than half of the patients are children, and rare diseases tend to be serious, complex and chronic.
"In addition to articulating the challenges, we'll be celebrating the partnership that exists between patients and those seeking to help them," Saltonstall said. The global theme for Rare Disease Day 2012 is "Solidarity".
In addition to national activities and events in each participating country, the day emphasizes global collaboration with each country reporting its events on a global website.
Source: National Organization for Rare Disorders (NORD)
For more ideas on how you can get involved, please visit: NNPDF Rare Disease Day page
World Rare Disease Day: http://www.rarediseaseday.org/ Canada: http://www.rarediseaseday.org/country/ca/canada
Canadian Organization for Rare Disorders (CORD): http://www.raredisorders.ca/
Rare Disease Day site: http://rarediseaseday.us/ NORD: http://www.rarediseases.org/
[Feb 2, 2012 mem]
Bourgeault Family's Battle With NPA Featured
News 14 Carolina
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| Kaitlyn Bourgeault (NPA) |
With the support of her loving family and many neighbors and friends, little Kaitlyn Bourgeault is fighting for her life against Niemann-Pick Disease Type A (NPA). News 14 Carolina featured Kaitlyn and her family in a story filed by Heather Waliga on January 28.
Read the story and see the video Kaitlyn's Korner -- Bourgeault family blog
[Jan 30, 2012 mem]
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2012 NNPDF Family Support and Medical Conference |
The 2012 NNPDF Family Support and Medical Conference is being planned for Nashville, Tennessee! (CCNNPDF members welcome!) This summer's event will be the 20th Annual NNPDF Family Conference, and attendees will help commemorate this milestone of the foundation's work to advance research into Niemann-Pick Disease and help families facing its challenges.
Nashville, "The Music City," promises to be an exciting and fun family destination! Learn more about all Nashville has to offer from the Nashville Convention and Visitors Bureau at visitmusiccity.com.
The conference site and dates will be announced as soon as they are set. The conference is typically held the last weekend in July or one of the first two weekends in August, making it a great time for our families to combine their trip with a summer vacation.
Watch the Home page and this NewsLine page for announcement of conference details as they develop.
[Jan 30, 2012 mem]
[Feb 2, 2012 mem]
NewsLine postings from 2011, 2010 and 2009 NewsLine postings from 2008 and prior