NewsLine Archive 2003

National Niemann-Pick Disease Foundation, Inc.

Last Update: Sunday, May 31, 2004

NewsLine contains the latest information concerning
the Niemann-Pick Foundation, medical research, support groups, members, etc.

Featured News
There has been much sad news in the past week as several families have lost their children to Niemann-Pick.

"Lil Roy" Teller passed away on December 20th. His mom, Brenda, advised that "Lil Roy" died peacefully surrounded by many of his loving family and friends. The family expressed their appreciation to the NPD families for all their support during the last few months.

Corbin Cain passed away on December 22nd. Corbin was 25.

Kayla Barney passed away on December 24th. Her mom, LeeAnn said "She went peacefully, and knew it was her time to go. She has touched so many and will continue to live on in the memories that we all have of her."

Karolee Koonce passed away on December 26th. The family advised us that Karolee shared her last Christmas with her parents and died peacefully shortly after midnight.

Our deepest condolences to all the families on their loss. "The loss is immeasurable. But also immeasurable is the love left behind." [ Dec. 29, 2003 ]


Dana's Angels Research Trust has created a new website to promote awareness and fundraising for Niemann-Pick research. The foundation was established by Phil and Andrea Marella after their daughter, Dana, was diagnosed with NPC. The foundation recently awarded its first grant to study CoQ10 in Niemann-Pick. [ Nov. 9, 2003 ]


JB and Hunter OzmerJames Brown, National Spokesperson for NNPDF, has launched his own website. The website has Niemann-Pick as the lead news item on the front page.

Inside is a news item and photo taken when JB was filming public service announcements to raise awareness of NP. The site also includes links to the NNPDF website. [ Nov. 9, 2003 ]


The sale of Oxford GlycoSciences to Celltech has been completed. As a result, email addresses and corporate websites have changed. The new Celltech email address for questions concerning the OGT-918 clinical trial is medicalinformationuk@celltechgroup.com. Questions concerning the clinical trial or regulatory approval should be directed to Celltech.

Actelion is the company that actually will sell Zavesca (OGT-918) in the United States and Europe. Michael Halstead is the Director of Medical Information for Actelion in the United States. His email address is michael.halstead@actelion.com. Questions concerning the sale or availability of Zavesca should be directed to Actelion. At this time, Zavesca is only approved for use against Gaucher's Type I under limited circumstances.

When NNPDF receives updates concerning the clinical trial, they are published on our OGT-918 page with a summary here on Newsline. At this time, Celltech is still awaiting approval of the pediatric clinical trial. [ October 19, 2003 ]


The Lister family has informed us that their son, Elliot Mark Lister, passed away on Monday. Our condolences are extended to family and friends.

"We were allowed to take him home [ from PICU ] so that he could end his time in familiar surroundings with his family. He had a steady stream of visitors throughout the evening. His sisters wished him good night and went to bed as they too had been up almost 40 hours and needed some rest.

We were alone with him and told him so many things, we spoke, we laughed and we cried. He hads lots of hugs and kisses. He woke up at about 1:30 am for 30 minutes and just seemed to be checking who was there, he looked deep into our eyes and we knew he had decided to let go, he had fought long and hard for almost 9 years and had no strength left to fight any longer. He was lying on his huge floor cushion between his mum and dad, holding our hands.

At 2:55 I checked his medication and knew it was still a little early to give him any more Morphine. He was sleepng soundly and didn't look to be in any distress so decided to leave it for a few more minutes. I must have dosed off for a minute as I awoke with a start at 2:58. Elliott had gone, he had waited until no-one was watching and then slipped away quietly and peacefully, he was so caring and loving and will be sadly missed by everyone that ever knew him.

Happy Birthday Elliott, we will always love you.

Dad"

Elliot's family created a website several years ago to increase awareness of Niemann-Pick. You can visit Elliot's website at http://www.niemann-pick.freeserve.co.uk/. [ Sept. 20, 2003 ]


October is Niemann-Pick Awareness Month. Brian and Stephanie Cortes sent a very nice request to Gov. Davis of California for a proclamation (you can view it here). Send a request to the Governor of your state with your own personal story.

Awareness events are getting started early. Hunt and Annette Ozmer held their 7th Annual Hunter's Hope Golf Tournament and reports indicate it was a big success. Congratulations to the Ozmer's on another good year. Other events were held in Louisiana, California, New York, Wisconsin, and Canada.

October events are already planned in South Carolina, Texas, Michigan, California, Rhode Island, Wisconsin, Alabama, and Virginia. Its not too late to make your own plans for Niemann-Pick Awareness Month. [ Sept. 15 2003 ]


Lori Seidman, who has been the Coordinator for the OGT-918 Clinical Trial , will be leaving in September for personal reasons. Dr. Patterson has assured us that Columbia will be replacing Lori as Coordinator of the Clinical Trial and there will be no delays as a result of the change.

Lori has also been the the National NPC Coordinator for NNPDF. The Foundation is considering options for the future. The position will be vacant until the February Board meeting. The Board will re-evaluate the duties of the position and consider candidates for the National NPC Coordinator.

Our thanks to Lori for all her efforts over the last two years in assisting families with questions and concerns. [ Aug. 22, 2003 ]


It has been widely reported that the first gene therapy clinical trial has begun for Parkinson's Disease. This is one of the few gene therapy trials that target a neurological disease. These early trials - for Parkinson's, Alzhiemer's, and Canavan's diseases - offer the hope that a long term treatment can be found. But they also remind us that the search will not be easy. Clinical trails of gene therapy for Canavan's Disease have been underway for seven years with no final results.

The Niemann-Pick Disease Group (UK) and NNPDF have funded work on gene therapy for several years. Dr. Robin Lachman (in the UK) is trying to develop longer lasting vectors (the viruses that deliver the new genes) and Dr. Robert Maue (in the US) is evaluating the clinical improvements that result from gene therapy. The results from these other neurological trials can only help our own efforts. [Aug. 22, 2003 ]


October is Niemann-Pick Awareness Month. Start planning now to have an event (big or small) to raise awareness about Niemann-Pick. Ask your Governor to proclaim Niemann-Pick Awareness Month ( sample proclamation ), write your local newspaper, or contact TV and radio stations to get the word out. Last year, there were over 40 events in 24 states. Need some inspiration?

James Brown, co-anchor of the Fox NFL Sports program, has agreed to be the national spokesperson for NNPDF. He has filmed a public service announcement that will be aired by the Fox network later this year. Mr. Brown and fellow anchors wore the NNPDF lapel pin and spoke about Niemann-Pick disease during an NFL half time show last year.

Twice Robin, a nationally recognized Christian country group, has recorded a song dedicated to the Niemann-Pick children. Twice Robin appeared at a Lee King fund raiser and were so inspired by Lee that they wrote "Until Then" in his honor. Twice Robin was nominated for Christian Country Music Association awards in 2001, 2002, and 2003. You can obtain "Until Then" on CD by contacting the NNPDF Office. [ Aug. 20, 2003 ]


The 2003 Family Conference was held in Providence, Rhode Island this past weekend and it was a great success. Over 110 individuals registered to attend and almost everyone made it despite the East Coast blackout. Fortunately, the power stayed on in Providence!

The conference was focused on the emotional effects of Niemann-Pick on individuals, couples, and families. Sessions were held on stress relief, supporting the marital relationship, and grieving during a long term illness. There were also sessions on nutrition, respiratory therapy, and education planning, as well as the medical and research updates.

The final session was a time for fun - with the "Big Nazo", raffles, and karaoke. Everyone left feeling very upbeat. Congratulations to hosts Rhonda Brown-Kehoe, Kevin Kehoe, Holly Roberts, Mike Roberts, and Judy DeSouza for an excellent conference.

Thanks also go to the Leoni family who held their 3rd Spiritual Convergence for Niemann-Pick. The Spiritual Convergence is held at the same time as the family conference and allows families and friends who cannot attend to express their support.

Amy Lee and Sherry and Chris Richardson will host the 2004 Family Conference, which will be held in Orlando, Florida July 22nd to 24th. Discounted room rates will be available for three days before and three days after the conference. Rumors were flying that Mickey and Minnie might attend, so keep those dates open! [ Aug. 20, 2003 ]


An update on the OGT-918 clinical trial was received from OGS/Celltech. The full text is available on our OGT-918 page. The pediatric trial for children under 12 has been approved in the United Kingdom. The protocol for the pediatric trial in the United States is still under review but it is hoped that the trial will begin in October 2003. Patients are still being recruited for the trial in the UK and in the US.

Zavesca has been approved by the FDA for use in Type 1 Gaucher Disease. The approval is limited to patients who cannot utilize the existing enzyme replacement therapy for Gaucher's. The FDA approval for Gaucher Disease means a quicker review of Zavesca when the the NPC trial is finished. [ Aug. 13, 2003 ]


We were informed by the Vanspauwen family that Liselore passed away. She was 9 years old. The Vanspauwen's are from Belgium. Our condolences to the family on their loss. [ July 27, 2003 ]


"With great sadness I have another child to add to the list of children that have passed. On June 22nd, Allison Christine Kirby, age 7, died in the arms of her father Steve. Her brother Jason and sister Stacy, aunts Karen and Sharon and Uncle Bill and I were all present. She went peacefully and painlessly. As she took her last breath she opened her eyes slightly and smiled as though she saw something wonderful. We will be forever grateful for that smile and remember it always. I know she is at peace and happy now. She will be missed by us all and remembered with the deepest Love and admiration for her courage and determination. We were truly blessed to have her in our lives for her short time here on earth. "
Lisa Kirby

Our prayers and condolences go to the Kirby family. [ July 7, 2003 ]


"It is with a heavy heart yet a peaceful soul that I announce the passing of my precious nephew James Alfred Dees IV. Jimmy peacefully passed yesterday evening after having battled this dreadful disease for nearly half of his life. Jimmy brought an enormous amount of love and joy to our family and at times was the thread that held our family together. Jimmy is the reason my family, friends and HFTP associates originally joined in the race to find a cure for NP"
Amy, Nicola, and Rachael Lee

The Foundation extends its deepest sympathies to Jimmy's family and friends.

For the past two years, the HFTP Gold Coast Chapter has organized a golf tournament to raise funds for Niemann-Pick research. Amy Lee, Jimmy's aunt, chaired the first event and suggested Niemann-Pick as the cause to support. HFTP has raised $90,000 from the two events - a testament to Jimmy's impact on family and friends. [ June 26, 2003 ]


Janet Pease, Director of Research, has summarized the work reported at the 2nd International Conference on NPC. The conference was hosted by the Ara Parseghian Medical Research Foundation and brought together over 140 researchers, doctors, and NPC families from around the world. There were 29 speakers and 50 posters detailing the latest results in NPC research. [ June 26, 2003 ]


We have received word of two losses.

"Jacob Quinn DeMeis-Dullea, 6 1/2 yrs, NP-C passed today with his mother, father, little brother and dog at home.

We loved him more than anything as we know he loved us. We will miss him but we know that he is always with us as long as we can recall a favorite memory, song or touch we shared.

He was all the best parts of us and he embodied how a life should be celebrated, not mourned, no matter the physical limitations.

We love you Jacob!
always, Mama Miqelle, Daddy Bob, Brother Kiernan and puppy Oslo."

In addition, Susan Bethune informed us of the passing of her daughter Lesley-Anne Doucet on January 15th. Lesley-Anne was almost 19 years old and NP Type C/D.

The Foundation extends its condolences to both families on their loss. [ June 22, 2003 ]


Recognition is due to several people: Congratulations and best wishes to all. [ June 21, 2003 ]


Kevin and Rhonda Kehoe are offering Graham's wheelchairs and other items to any family that can use one or more of the items. If you are interested, please email Kevin and Rhonda at slainte23@msn.com. [ June 12, 2003 ]


The HFTP Florida Gold Coast Chapter Golf Tournament was a big success by all accounts. The Vorpahl, Ozmer, and Richardson families all attended to represent the NPC families. The event was held at the Loxahatchee Golf Course in Jupiter, FL and included a silent auction, live auction, raffle, lunch, dinner, and (of course) golf. This year's total isn't in yet.

Barb Vorpahl said "It was an absolutely wonderful event and would not have happened without the hard work and dedication of Evelyn Adams and the many volunteers and corporate sponsors who generously gave their time and resources for the cause.

The foundation was well represented by Hunt, Annette and Hunter Ozmer, Sherry, Chris and Rachel Richardson along with my husband Gary and myself. Hunter Ozmer stole everyone's hearts with her words on behalf of all of those suffering with NPD,

Please join me in sending a special thank you to Evelyn and the HFTP volunteers for all of their work on behalf of the foundation.". [ June 9, 2003 ]


The 2nd International Symposium on Niemann-Pick Type C was held in Tucson, AZ in late May. Over 130 scientists and medical professionals from 15 countries attended. The Symposium was divided into six thematic sessions, ranging from cell biology to neurology to therapeutic strategies. The speakers gave detailed presentations on their work. The other scientists were able to ask questions and offer advice on future directions. A summary of the Symposium will be added to this website in the near future.

Six families from the United States, United Kingdom, and Germany also attended and spoke with researchers about the realities of living with NPC. Several of the researchers expressed appreciation for the participation by families over the years, saying it had helped motivate them in their work.

The Symposium was sponsored by the Ara Parseghian Medical Research Foundation and the Office of Rare Diseases, NIH. [ June 9, 2003 ]


The Cajun Cruisers have agreed to sponsor the NNPDF website for a year and to make NNPDF a beneficiary of its 2004 Poker Run. The Cajun Cruisers are motorcycle enthusiasts who conduct various events to raise money for community charities. The Poker Run is their major fund raising event. [ June 9, 2003 ]


A mailing has gone out to all known NPC families requesting input on two important issues:

(1) Proposed Study of Cardiovascular Disease Risk in Niemann-Pick C Disease and Carriers
This study proposes to examine whether carriers of NPC are at increased risk of cardiovascular disease. The study is seeking approximately 100 families to participate in a questionnaire and blood test.

(2) Establishment of NPC Regional Multi-Disciplinary Clinics
St Louis Children's Hospital is considering establishing an NPC clinic and wishes to determine how many families would visit the clinic. In addition, the Foundation is seeking input on possible regional clinics in other parts of the country. The clinics would bring together a variety of doctors and therapists at one time who are familiar with NPC.

A written response is requested by May 30th. You do not have to be a member of the Foundation to participate. You can participate in one survey and not the other.

Complete details are available here as a Word document. To save this document to your PC, place the cursor over the link and right click. Then select "Save Target" or "Save". If you have Word or Microsoft Works, you can open the document directly by clicking on the link. Survey answers will be sent to the research investigators and St Louis Children's Hospital.

Participation in studies and surveys such as these is very important - the projects won't happen unless enough people are willing to join in. With fewer than 300 families known to have NPC in the United States and Canada, each individual family that participates will be making a big contribution to NPC research and clinical support. [ May 16, 2003 ]


Jasmine and Dany Pomerleau wrote to inform us of the passing of their son Enrick (NPC). "It is with a lot of tenderness that our small Enrick has leave us on Wednesday evening on April 30, in the arms of his parents at home. He has celebrated his 5th birthday on April 27. For the first time for several months he was quiet and released, beautiful as a child who sleeps. Burial took place on Saturday on May 3 surrounded with all the love which he had so easily known how to create around him."

The Foundation extends its sympathies and prayers to the family. [ May 5, 2003 ]


Please contact your U.S. Representative and Senators to request full funding for the Rare Disease Act (P.L. 107-280) and the Rare Diseases Orphan Product Development Act (P.L. 107-281). You can find your representative at http://www.house.gov/house/MemberWWW.html. These laws led to an increase in funding for rare disease research last year and we hope to continue it in the future. Your messages to Congress do make a difference. Congressman William Jefferson of Louisiana recently wrote "I appreciate your sharing your personal struggles [with NPC]. Rest assured, I will support increased funding". Tell your story and ask for support. [ May 3, 2003 ]


Amy Renee Havener passed away on April 24th. Amy was 21 years old and NPC. Her mother wrote "She had struggled for the past month and finally the pneumonia was too much for her to fight off. She was a fighter who held on as long as she possibly could. Thanks for all your concerns and prayers over the past month."

Our condolences to the Havener family and to Amy's friends. Our prayers are with the family. [ April 27, 2003 ]


Chelsea Ward and her 5th grade class did a terrific job with their car wash fund raiser, receiving over $2,800 in donations for NNPDF! The line of cars was so long they had to stay an extra hour. The children had a fun time but were serious about the job - as a car pulled in 10 to 15 children would attack with sponges and soap. In just a few minutes, they would be finished and ready for the next one. Over 100 cars were washed in five hours. Lots of parents were also there to help coordinate and provide refreshments throughout the event. Thanks to all who organized and participated in the car wash. [ April 19, 2003 ]

The Spin for Tristen and NNPDF fundraiser was a big success! Spinning is intense indoor cycling on stationary bikes that has attracted lots of exercise fans. Early results have over $14,000 raised for NNPDF with more pledges outstanding. Some participants stayed on their bikes for more than three hours. Tristen helped by handing out water and orange slices. Her mom commented "I can't tell you how therapeutic putting on this fund raiser was for me. I am already spinning my wheels trying to come up with the next event!" Tristen has NP Type B.

Fund raising is what pays for NNPDF activities, especially research and the Family Conference. You don't have to be experienced to put on a fund raiser and you don't have to raise thousands of dollars the first time. Try something simple, like a car wash or spinning marathon, and you may be surprised at the results. If you want some help getting started, contact Melissa King. [ April 9, 2003 ]

Did you know that a $1.00 donation pays for someone to receive the newsletter for a year? Every dollar is important! [ April 7, 2003 ]


Enio and Lucy Legghio held the Life for Luke Dinner Gala on March 1st. The proceeds will be split between Niemann-Pick research and support for their local children's hospital. Last year the Legghio's raised $62,000 from a similar event. In addition, Lucy Legghio informed us that their Life for Luke website is now up and running. This is the 10th family website devoted to increasing awareness about Niemann-Pick. [ April 5, 2003 ]


Jimmy and Melissa King announced a new website promoting the Lee King Benefit Buddy Tournament. The website can be found at www.leekingbenefit.org. The website was made possible by Sam and Polly Williams, who have been strong supporters of the Kings and NNPDF.

The fishing tournament will be held for the third year in Eufala, Alabama in honor of Lee King, who has Niemann-Pick Type C. It is one of several events held in Eufala to raise funds for research into Niemann-Pick. Last year's tournament raised $15,000.

"I began fundraising in desperate need to save Lee. But now it's not only him I am desperate to save. I want to be a part of something huge. I don't want another family to have to be told their child is dying with NP. I don't want another family to have to plan their child's funeral.

The only way these things WON'T happen is, if we continue to fund research. The only way a cure will ever be found is for us to pay for it. We must continue to work together as a foundation with one common goal... A CURE.

                Melissa King

[ March 22, 2003 ]


Chelsea Ward and her 5th grade classmates at St Clement of Rome School will hold a car wash on April 5th to benefit NNPDF. Chelsea's sister, Amanda, has Niemann-Pick Type C as did her brother Adam. Chelsea has been involved with fund raising for NNPDF since the 2nd grade.

If you're planning a fund raiser, let us know and we'll include it on Newsline. [ March 22, 2003 ]


Rhonda Kehoe-Brown notified us that her son, Graham, passed away on Sunday.

"It is with honor and sadness this message is sent to everyone. Graham Bartimeaus Kehoe died at 4:38 am. Although it was very hard watching and helping in this process, he had a random smile and at the very end he had tight squeezes by his hands, like a message of farewell.

It was an honor to call him my son and I can only feel the relief for him as it now gets replaced with a void, that only time will reshape."

Our condolences and those of the Foundation go to Graham's family and friends. [ March 18, 2003 ]


The National Institutes of Health has issued a Request for Applications to create four Rare Diseases Clinical Research Centers. Each center will focus on a specific set of criteria (such as lysosomal storage diseases). One of the goals is to increase the availability of clinical data to practicing physicians. The RFA specifies that patient support organizations should participate in the centers. NNPDF is exploring ways that the Foundation can participate. It will be several months before any final decision is made on specific centers.

The centers are the result of the two Rare Disease acts passed last year. A number of NNPDF families supported passage of the acts, including Sherry Richardson, who was part of a memorable press conference held by Rep. Mark Foley. [ March 8, 2003 ]


The NNPDF Board Meeting was held in St Louis the weekend of February 14th. The Board approved $201,000 in research funding for two Niemann-Pick Post-Doctoral Fellowships and Dr. Lachman's gene therapy project. Dr. Lachman has been funded for the past three years by the Niemann-Pick Disease Group (UK) through the National Lottery. NNPDF and NPDG (UK) will jointly fund the project for another year.

You exceeded last year's fund raising goal by raising $449,526! The new fund raising goal for 2003 is $483,500. Did you know that in three years NNPDF has spent over $1,000,000 on research? Your efforts really make a difference!

The Board elected Rhonda Kehoe-Brown as a Director of Support Services. Rhonda is one of the hosts of this year's Family Conference and is a nurse and bereavement counselor. Rhonda has been active on the NNPDF Listserv, sharing her medical knowledge and experience. Rhonda's son, Graham, has NPC.

The meeting also included good discussions on future efforts, including the need to expand medical expertise about Niemann-Pick. One idea discussed was to sponsor medical seminars about Niemann-Pick at selected hospitals around the country. While no immediate action was taken, these ideas will continue to be part of our plans for the future. [ March 1, 2003 ]


Lori Seidman sent a message to the NNPDF listserv outlining a timetable to include pediatric patients (children under 12 years old) in the OGT-918 clinical trial. The full text her message can be found on our OGT-918 page. It is hoped that younger children can be included in May or June, but this is not definite. As a general rule, pediatric clinical trials are more strictly controlled than adult trials so it would not be unusual for there to be some delays. [ Feb. 6, 2003 ]


The Ara Parseghian Medical Research Foundation has announced that the 2nd International Symposium on NPC will be held May 29 to 31, 2003 in Tucson, AZ. APMRF is sponsoring the Symposium with Dr. Laura Liscum and Dr. Steve Sturley serving as co-chairs of the event. The Symposium is expected to draw over 125 leading scientists from around the world. More information can be found on the APMRF website. [ Feb. 6, 2003 ]


Lori Seidman, who is coordinating the OGT-918 Trial at Columbia, has provided an update on the progress of the trial. The first visits have been scheduled and the update gives a good description of the tests that will be conducted during these visits. Reading the description gives one a good sense of the complexity of this trial. Lori will be providing regular updates as the trial proceeds. [ Feb. 1, 2003 ]


Oxford GlycoSciences announced it will merge with the Cambridge Antibody Technology Group Plc. The merger is not expected to affect the OGT-918 (Zavesca) clinical trials that are underway in the U.S. and United Kingdom. More information is available on our OGT-918 page. [ Jan. 23, 2003 ]


Where is the oldest shopping mall in America? Here's a hint - it is in the same city as the NNPDF Family Conference. Visit our conference page for the answer to this trivia question and to find out more about the 2003 Conference. The conference will held August 14th to 16th - make plans to attend now! [ Jan. 18, 2003 }


The Albert Einstein College of Medicine has received a planning grant to create the Center for Disorders of Lysosomal Metabolism. The Center is one of seven funded by the National Institute of Child Health and Human Development to focus on the study of rare diseases. The NICHHD and the Office of Rare Diseases intend to fund 5 year grants to support research at the seven centers later in 2003. The Center for Disorders of Lysosomal Metabolism has three goals: Dr. Steven Walkley is the Scientific Director of the Center which will focus on Niemann-Pick Disease, MPS, Batten Disease, and the general pathophysiology of lysosomal storage diseases. Dr. Walkley conducted the OGT-918 research that led to the current clinical trial and is on the NNPDF Scientific Advisory Board. Other Niemann-Pick researchers affiliated with the new Center include Dr. Peter Lobel, Dr. Richard Pagano, and Dr. Kinuko Suzuki. [ Jan. 12, 2003 ]


Michelle and Ed DeSelm have let us know that their daughter, Megan, passed away on November 26th. Megan, who had Niemann-Pick Type A, was not yet two. Our sympathies and prayers go to the family on their loss. [ Jan. 11, 2003 ]


Tim and Julie Kerstiens have written a beautiful tribute to their son, Lee, that can be read on our Tributes page. The Kerstiens also wrote that they are "still trying to work through all of our pain and find our place back in battle against the most heartless enemy we have ever known. It is not easy though we still care deeply for all the other children and families who suffer with the same heartache." We send our best wishes and prayers to the Kerstiens during this difficult time. [ Jan. 4, 2003 ]


Dates have been announced for the 2003 Family Conference. The conference will be held August 14 to 16 at the Providence Marriot. Current plans for the conference can always be found on our "What is planned for the next Family Conference?" page.


OTHER NEWSLINE ITEMS

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For older items that have been on newsline, visit the Newsline Archive 2002.