FALL 2010

Fall 2010

Newsletter

Happy Spring!

I can't believe it is already mid October!! We are all so busy that it seems that the whirling of our schedules will somehow spin this earth right off its axis!! I apologize for getting this newsletter out so late. As I mentioned at the family conference at Camp Sunshine, I have just finished with my last major fundraiser in the end of September and it took quite a bit of my time. We had great results ($40,000 and rising- money still coming in!!) and I am preparing now to do a letter writing campaign to send to our out-of-state friends around the country to try to bring in more funding. But I am finally squeezing in this newsletter amongst my fundraising while also working on the consensus, Scientific Meeting, upcoming research grant, answering emails and more to fill you all in on what's happening in the world of SDS!!!

Although we went to Camp Sunshine 2 months ago, Donna Garfield has written a great re-cap article! We also have some great pics to share.

We have also been working on the Regsitry with our partners and will share some of that in the newsletter. And we have an update on the Fundraising Challenge as well as some NORD info and other news.

I hope that this fall is going well for everyone. Please don't hesitate to contact us at SDSF if you have any questions, comments or suggestions. Our primary goal is to fund research while taking time to listen to and aid families.

Sincerely,

Blair Van Brunt, President SDSF

CAMP SUNSHINE Recap of July 25-30, 2010

Fabulous, fun-filled, beautiful, restorative, supportive, inspirational; how many words can you come up with to describe the latest 2010 Camp Sunshine experience?

Another wonderful family conference was held at Camp Sunshine in Casco, Maine from July 25-30!! The weather was absolutely perfect, and the sessions both informative and supportive for the kids and the parents alike, the Camp administration was amazing and the volunteers helped immeasurably!

We were treated to a perfect mix of new and familiar during this year's session. We started the camp off with the traditional "meet and greet", giving old friends a chance to reconnect and new families a chance to put faces with names; but this year there was a twist - several young adults joined in! It was great seeing the over 18 crowd walking that tightrope - accepting the weight of dealing with a chronic illness while still enjoying life as only a young adult can. And we had quite the international crowd with 3 families from Canada and one young adult who traveled by herself from Australia!!

Our Australian friend part of Canadian contingent at Camp Sunshine

As in years past we again were treated to informative and engaging talks by renowned researchers and doctors in the SDS field. The presenters speaking were: Dr. Richard Harris, Director of the Bone Marrow Failure Clinic, Cincinnati Children's Hospital Medical Center; Dr. Peter Durie, Director of Cystic Fibrosis Research, Gastroenterologist and Professor at the University of Toronto; Lynda Ellis, R.N., Clinical Research Nurse Coordinator - Gastroenterology, Hepatology and Nutrition at the Hospital for Sick Children; Dr. Johanna Rommens, founder of the gene for SDS, professor, scientist; Dr. Akiko Shimamura, MD, PhD, Fred Hutchinson Cancer Center, Seattle Children's Hospital; Dr. Monica Bessler, Director, Comprehensive Bone Marrow Failure Center, The Children's Hospital of Philadelphia & The Hospital of the University of Pennsylvania; Dr. Blanche Alter, National Cancer Institute, National Institutes of Health; and Dr.Elizabeth Kerr; Psychologist at the Hospital for Sick Children, Toronto, Ontario.

Having a group of young adults actively transitioning their care gave us a wonderful opportunity to add a new focus to our sessions. Although we made sure to again offer sessions covering diagnosis, hematology, and general management of SDS, this year we addressed the process of transitioning from pediatric to adult care and the new challenges that it presents. In addition, our young adults also offered to hold a session with the younger teenagers. So once again Camp Sunshine stepped up and arranged a session for them to meet as mentors with the younger children, sharing their experience and wisdom on what it is like living with SDS.

Another new opportunity was offered on Tuesday afternoon and Wednesday morning, when families were given an opportunity to meet one on one with the researchers to ask questions, or just discuss their family's unique challenges. A fantastic experience to pick the brain of world renown SDS researchers, get second opinions, or interview potential doctors for those new adults SDS patients!

In addition, on Tuesday afternoon, a set of simultaneous breakout sessions was conducted, each focusing on a unique group of attendees. The two parent sessions were: Families with a new diagnosis and Pediatric to adult transition issues. The two patient focused groups were: 11-15 year olds with SDS and 15-16 years & older - adult issues. The two patient focused groups were closed to parents to give the teenagers and young adults a chance to talk openly about the challenges that they face as a teenager with ongoing medical challenges. Nancy Cincotta and her son AJ

These sessions were facilitated by the wonderful Nancy Cincotta, a licensed social worker and Psychological Director on staff at Camp Sunshine and who is masterful at conducting warm, sharing, caring meetings where all feel comfortable to speak. She held many parent sessions as well over the 5 days and all who attended were grateful for her presence.

Despite all the medical talk the first two days, Camp Sunshine is really a summer camp and for the children camp included archery, swimming, mini golf, canoeing, kayaking, paddleboats, climbing the rock wall, volleyball, arts and crafts, playing on the playground, computer time, and the challenge course - something for everyone! Even the infants and toddlers were treated to special activities by their caring volunteers. reading with a volunteer

The scheduled activities extended well into the evening with special activities to reconnect the families to each other after a long day as well as to other SDS families. And although there was a masquerade dance with a DJ, carnival night, movies on the lawn, talent show and a celebration ceremony put on by the kids and their counselors, families were free to participate as much or as little as they were comfortable with.

In addition to all of the scheduled activities there was also free time for the parents and children to take advantage of the camp offerings as a family, just relax in their individual suites, or if they preferred, sit up half the night chatting and playing board games with friends both new and old!

Mother and Daughter

With all amenities provided free to the families (rooms, meals, activities, emergency and regular medical care) Camp Sunshine is a unique opportunity that all families should experience at least once! But please remember that we would not be able to attend this Camp if SDSF weren't able to pay the $10,000 suggested donation to offset the costs of the camp experience for the Camp itself and the medical sessions and travel expenses of the doctors/scientists cost money too!(approx $5,000-$10,000) So get out there and fundraise!! It can be very rewarding.

check out more photos from Camp at the end of the newsletter!

In This Issue

Camp Sunshine Recap

SDS Registry update

Fundraising Challenge Extension

New Fun-d Raising Ideas

NORD and Clinical Trials

Participate in Research Studies

A Family Story of Non Classical SDS

Planning a Fundraising Event

Florida Senate Bill

Thank you for your Donations

SDSF Important Links:

Donate to SDSF

Medical Scientific Advisory Board

Regional Parent Contacts

Doctor Database

Adult Patient Resources

Receive Hospital Care Basket

Please Join Patient Database

Participate in Research Studies

Purchase Your Own SDSF Bracelet

RESEARCH GRANT FUNDED BY SDSF

SDSF has officially approved a $65,000 grant for each of 2 years to Dr. Paul DeFigueiredo out of Texas A&M University, College Station, Texas. This will be paid out by November 1st.

This research will focus on therapeutic agents that have already been approved for hematologic failure situaions by the FDA and will now be tested on SDS genes to see if they can ameliorate the cellular defects associated with SDS. This is far more complicated than I am describing here but suffice it to say that SDSF and the Medical Advisory Board are excited about the research!

You can read more about Paul from an article in the Fall 2009 newsletter and what his background is and how he got involved with SDS.

NEXT INTERNATIONAL SCIENTIFIC MEETING

JUNE 28 -June 30, 2011

The 6th bi-annual International Scientific Meeting will be held in New York City from June 28-30, 2011. It is being organized by Dr. Johnson Liu, a highly respected doctor and researcher who has been involved with SDS for many a year. SDSF has awarded him grant money in the past and he is currently editing an SDS consensus statement that hs been put together by the collaborative efforts of doctors and scientists worldwide. More on that in the next newsletter.

The Scientific Meeting is designed for doctors and scientists from around the world to attend and/or present the most current research to their peers for review and discussion. It is very exciting to have so many fabulous minds focusing on SDS in one room!! It is a very technical meeting and usually costs in the $600 range for the 3 days to attend. There will be medical credits available. I will post more information as we receive it. At this time, SDSF will contribute $12,000 to help defray the costs for the meeting as we do for every Scientific Meeting.

FLU VACCINE INFORMATION

WITH REGARDS TO SDS

The 2010/2011 flu shot will provide protection against the H1N1, H3N2 (A) and B flu viruses. According to the CDC, people of any age with certain chronic medical conditions should get the flu vaccine but this is certainly a decision that you are your doctor can make together. There are some people who should not get a flu vaccine without first consulting a physician. These include:

� SDS Patients whose blood counts are very abnormal compared to their usual counts

� SDS patients who are on some sort of steroid

�-People who have a severe allergy to chicken eggs.

�-People who have had a severe reaction to an influenza vaccination.

- People who developed Guillain-Barr� syndrome (GBS) within 6 weeks of getting an influenza vaccine.

�-Children less than 6 months of age (influenza vaccine is not approved for this age group), and

�-People who have a moderate-to-severe illness with a fever (they should wait until they recover to get vaccinated.)

It has been advised to our SDS community to get shots only. The nasal spray is a live, attenuated virus and should only be given to healthy people between the ages of 2-49 years of age. One of our Medical Advisory Board members has recommended that no one in the household should get the live attenuated virus if someone who also resides in the household may be immunosuppressed. Please consult your doctor and check out the CDC web site for more info on the 2010-2011 season.

Article Headline

NEWSFLASH: The SDS Registry is now accepting Canadian registrants!!

This registry is still getting off the ground and we need your help! The registry is a database of data and tissue samples from patients with SDS for use by researchers for research towards a possible cure and for treatments. It can be used for further education for doctors and patients and their families too.

Many of you have been asking about the eligibility criteria for the SDS Registry.
According to the Director of the SDS Registry, Dr. Akiko Shimamura, patients with SDS diagnosed by clinical findings or by SBDS genetic testing are eligible. Patients whose diagnosis is unclear but who share many of the clinical features of SDS may also be eligible. The eligibility criteria for the SDS Registry have remained unchanged since the opening of the Registry, but may require modification over time as more information becomes available. To determine whether you are eligible for the Registry, please visit the web site of the Registry and call or email the

Registry Coordinator, Audrey Anna Bolyard at 206-5423-9749 or 1-800 726-4463.

Participate today! It will make a difference to your child as well as thousands of others!

SDSF FUNDRAISING CHALLENGE

UPDATE:

We are extending the Challenge until December 31st.

We have had a few people participate in this challenge (below) and here are the leaders so far:

BODRON family, Texas

Brown family, Missouri

Sample family, Texas

Fitz family, New Jersey

We are hosting a fundraising contest and

the Winner will receive a Dell Laptop computer

We also have a Second prize of 2 Southwest Airlines tickets

redeemable anywhere in the continental United States

Here's the deal: Starting now (whenever you read this) through December 31st, the person/family who raises the most money above and beyond $1,500 wins!

This money can come from corporations, family members, friends etc. All donations must be in check, cash, credit card through our web site (Paypal), and stock options, and may not be in-kind donations.

When you ask your family/friends/companies/churches/temples etc to send in their donations, please ask them to add a note that states who the donation is associated with ( this should be the name of the fundraising organizer) so that we can keep track of the funds that are sent in. The note can be on the check, in a separate email, separate piece of paper or a call to our 1-888-825-SDSF (7373) number. You can also ask them to send the donations to you and you can then send everything in at once with a note. Whatever works best for the donor. Just please do not create a seperate bank account for this purpose as it is against the law.

We are very excited about this contest and can't wait to see how our community will respond to not only helping their own family but helping all of us!

Please feel free to call 1-888-825-SDSF (7373) anytime to discuss questions, comments or possible fundraising ideas with us. I personally have done quite a bit of fundraising and look forward to helping you plan a strategy or event. You can also read the article below for some easy fundraising ideas. Remember, it does take money to make money but we can help you figure out a way to keep your costs down and how to recoup them.

Please refer to this link to review tips and thoughts on fundraising

please note that the offered prizes are acquired donations through Bryan Sample, Treasurer of SDSF.

MORE FUN FUNDRAISING IDEAS

RECYCLE YOUR OLD CELL PHONES by Joan Mowery

How many old cellphones are lying around your house and your family, co-workers and friends' houses???

We have a way that you can help the ecosystem and help SDSF at the same time. And we can all do it.

It's an easy way that everyone can help raise money to support research and all of the other work SDSF does.....recycle cellphones.

SDSF has been registered with www.recyclingfundraiser.com

Start a recycling campaign by contacting family, co-workers and friends. When you have collected the cellphones go to this company's website.

They will give you instructions on how to download and print a FREE shipping label.

To make sure SDSF gets a check for your shipment make sure to put the SDSF return address on the shipping label.

Shwachman-Diamond Syndrome Foundation

127 Western Ave.

Sherborn, MA 01770

This is easy-has no cost to you--and most importantly will help SDSF continue it's work to help our kids.

PLEASE START THIS CAMPAIGN TODAY. Please contact Joan Mowery with questions

WANT TO SELL FLASH DRIVES with the SDSF logo on them TO YOUR FRIENDS AND MAKE MONEY FOR SDSF? Contact [email protected] for more info

SDS Rubber Bracelets can be bought through SDSF

and sold at any of these events below. We sell them for 10 @$25.00 and you can re-sell for whatever you feel your market will bear. If you need a large quantity, we will negotiate the price depending on the number needed.

OTHER IDEAS

Alumni Reunions - sell SDSF Rubber or Crystal bracelets

Art Exhibit - of locals or kids - charge admission/sell tickets

Auction/Silent Auction -get donated items from friends, family and local businesses.

Bake Sale

Balloon Bouquets - buy wholesale, sell retail

Bazaar And Fair - charge for admission and food and drink

Block Party - sell rubber and crystal bracelets

Box Lunches -make them yourself and sell at retail

Breakfasts (Pancake,International Food, etc) - sell admissions or single meal

Car Wash - get volunteer students, ask fire dept for access to water

Celebrity Lunch Or Dinner -charge admission

Christmas Craft Sale

Christmas Wish Tree

Craft fair - charge admission and ask each vendor to donate a portion of their proceeds

College Final Exam Survival Kits -sell to friends/family

Community Festival Consignment Items Sale

Cookoff Contests (Dad& Daughter, etc.) - charge entry fee

Easter Gift Baskets for sale

Fashion Show Luncheon

Father/Daughter Dance -

Flower Sale -- Mother's Day

Game Contest Marathon

Guess Beans In Jar Count

Hobby Fair

Home Tours - charge admission

International Foods Sampling -charge admission

Letter Writing Campaign - perhaps the easiest of all! Click here to see sample letter that you can mail/email to family/friends and include our Donate page link in the email for fast and easy giving. Marathon or any kind of running event - check out separate article on this

Outdoor Concert

Poker Game- charge entry fee and re-supply of chips. Winner can donate winnings to SDSF

Pet Shows - charge admission and get donated prizes

Rummage/Garage sale

Supper With Ticket Sale (Chili, Hamburger,Spaghetti, Pizza, Barbecue, etc.)

Ticket Sales Of Door Prizes At Special Events

Tournaments/Events (golf, walk/run event,tennis, softball, chess, etc.)-see separate article

Used Book Sale

Wine And Cheese Tasting's - charge admission and donate portion of sales of wine to SDSF

Most of the events that need to charge admission/sell tickets can be priced by finding out what other charities charge for fundraising events in your area.

NORD AND CLINICAL TRIALS

The following is an excerpt from the National Organization of Rare Disorders:

Washington DC-----In a victory for rare disease patients and families, the U.S. House of Representatives yesterday passed the Improving Access to Clinical Trials Act (I-ACT). The bill, which passed the Senate August 5, goes now to the White House where President Obama is expected to sign it.

"This is a victory for the rare disease community," said NORD President and CEO Peter L. Saltonstall. "This legislation will support the development of new therapies by removing a barrier that might keep patients from participating in important research studies."

The legislation changes the eligibility requirements for Social Security Supplemental Income (SSI) and Medicaid so that compensation of up to $2,000 for participating in clinical trials won't be considered income in SSI and Medicaid determinations.

NORD has worked with the Cystic Fibrosis Foundation and other patient advocacy groups in support of this legislation. NORD and several of its Member Organizations signed a recent letter on behalf of the Improving Access Act sent to House Speaker Nancy Pelosi (D-CA) and House Minority Leader John Boehner (R-OH).

"We're grateful to our Member Organizations for their support on this important issue," Saltonstall said. "This is one more reminder that-when we speak together-we are able to bring about change that improves the lives of patients and families affected by rare diseases."

(SDSF is a member organization)

CAN YOU SEND IN TISSUE? BLOOD? PATIENT INFORMATION?

SDSF has a long history of many families participating in different studies that researchers have proposed and are needing tissue, blood or information of an affected SDS patient. Click here to see what the current needs are

A Family Story of the Struggles to get a diagnosis of SDS

Our story begins like so many others. We met, fell in love, and were married in 1998. We were blessed with our first baby in September, 2000. Ethan was wonderful, healthy, and did everything on time just like he was supposed to. He grew well, ate well, and made us so very happy to be a family. Life went on happily, and in December, 2003, Arianna made her appearance in our world. She was a small baby, under 6 pounds, and seemed more fussy than her big brother.

Arianna seemed to eat well, she had no big issues in her little life. She would always seem to need cuddling and a little extra attention from us. We thought that was just her personality, and we were happy to give her the attention she craved. She was very mobile, meeting her milestones early, and she was also a very social baby. As she got to the point of eating solids, Arianna didn't seem to do as well as we would have expected. In fact, she moved right on to table food at 9 months and that was fine with us!

The problems seemed to start then, right around 9 months. Arianna's growth was slowing - by a lot. She was starting to fall off her 25^th percentile curves and by 15 months, the pediatrician told us that she was off the curve completely. He was concerned by her lack of growth, and we were sent off with referrals to many specialists (what is an endocrinologist anyway?) and had some bloodwork done. That may have been the first blood draw pokie of Arianna's journey on the SDS highway. Like any concerned parents, we went home that day and called to make appointments with these other doctors and planned to spend time figuring out why our daughter wasn't growing.

I remember the evening clearly. Monday night around 8:00 pm, our pediatrician called. What doctor calls at 8:00 at night?? Her neutrophil count should be over 1500. Her labs showed an ANC of 69. And?? What's a neutrophil? Oh, they fight infection....okay.... The pediatrician explained how serious this condition can be and that she needed to see hematology the next day. If she were to spike a fever overnight, take her to the ER immediately. WOW! I went back and forth between dazed and panicked - the internet can be a very scary place at midnight with all the words looking back at me and shouting "immune compromised" "sepsis" "48 hours of a fever" "hem / onc" and they just keep coming.

"You're not big people" "It may just be genetics" "Come back in 6 months" - We cringe at those words we hear time and again. "She looks really good" "She looks healthy" - yes, true, but this is OUR baby and we're worried...and it's just not good enough to continue on the track of guessing and not looking further at what is wrong with our little girl! We went with the diagnosis of chronic benign neutropenia, which didn't sound too bad, but still had fever precautions as a safety measure. After checking counts for 6 weeks, it became evident that Arianna's ANC cycled between 0 and 700.

During the initial time of gathering data for the hematologist, we also became familiar with what a GI specialist does. We did so much testing at their request: fecal collections, ultrasounds, CT scans, Xrays, biopsies, bloodwork, food diaries, and many more I'm sure I've forgotten by now. The first GI we saw had a hunch - that she was in fact pancreatic insufficient. Testing didn't show that, but he BELIEVED it! He put Arianna on enzymes, and her intake and growth improved almost immediately! So, now we had neutropenia combined with pancreatic insuffiency - looking back, that should have clinched it.

At 18 months of age, the doctors finally got together and decided that they should do a bone marrow biopsy. They did an endoscopy at the same time and I think even the muscle biopsy was done. A few weeks later, The GI doctor retired, and the hematologist was content to call Arianna's condition "atypical cyclic neutropenia." He never did call it anything else, but he did continue to follow-up with Arianna and to treat her when she was ill. After a year and a few high fever illnesses, it became apparent that no one really knew what to do. One of her medications had a side effect of making her depressed - her face grew puffy and her mood was not what anyone would expect from a 3 year old little girl. We were desperate for answers. We came across people who had been in our situation, and they pointed in the direction of Cincinnati Children's Hospital for a consult with the bone marrow failure clinic.

"Bone Marrow Failure" - right there on the door - a little overwhelming I think the first time we saw that. We were blessed to be seen by Dr. Harris and his team who felt that there was certainly something going on, and that they needed to explore to find out exactly what that could be. I remember countless tubes of blood being filled over several days. I remember feeling so small in such a big place. She had another bone marrow biopsy, some genetic testing, and consults with many doctors. We left knowing we would be waiting quite some time for results, but if we got our answer, the wait would be worth it!

We received Dr. Harris' letter, and at the end, he diagnosed her as SDS-like. It really IS Shwachman-Diamond Syndrome. We had a name to what she had, and we were armed with information to take to her doctors. It was a relief in a way to just have someone concerned along with us. The problem: her bone marrow showed a clone, and she would need to return in 3 months for another Bone Marrow. The fear came back stronger than ever - she could be really sick! Arianna's repeat marrow was good - the clone was gone, and we continue to fight for her every day of her life. The challenge as she gets older is to teach her to fight for herself and for her own body! Her most recent development: prediabetes. Another symptom or another diagnosis? Only time with tell, and I hope that someday the research will uncover the reason behind Arianna's conditions. Until then, we live, and we let her live. She is now 6 years old, going into first grade, and she is stronger and braver than I will ever be.

We take life day by day. We cherish the smiles and savor the hugs. We meet amazing people who give us strength because they have been where we are now, and they "get it." We grow as a family, and we are blessed for each and every day we have together.

Read more of this amazing story as the full text will be on our web site soon

INTERESTED IN PLANNING A GOLF/WALK/RUN/ BIKE EVENT?

Want to plan an event in 6 weeks? Here's a guide:

6 weeks out: Determine what event you think will work best for you and Ask for Help! Ask your family, friends and colleagues to volunteer to help. You'll want 2-3 people minimum as your organizing committee.
5 weeks out: Get Organized! Set a location, date & time. Determine a fundraising goal, and set up a fundraising web page (if you can) and create your invitation. Ask local businesses to sponsor/donate to your event. If you can't get dollars, get in-kind donations. Order SDS rubber bracelets or create and order t-shirts from your local supplier.
4 weeks out: Spread the Word! Email/mail your invitation. Ask friends and family to volunteer to help at the event. Reach out to civic & religious organizations you are involved with. Contact news media.
3 weeks out: Check Final Details! Print signs and other materials for event location. Gather donations of refreshments. Stay in touch with your volunteers.
2 weeks out: The Home Stretch! Send reminders to registrants and volunteers. Double check supplies and materials.
1 week out: Countdown to Success! Check weather reports. Verify contingency plans. Confirm volunteer assignments.