Happy Spring!! from SDSF

Spring March Newsletter 2011

Happy Spring!

Happy Spring to you all

We have some changes with SDSF and we are sad and excited at the same time. SDSF has had many, many wonderful, talented, dedicated mothers and fathers be a part of the Board over the years and our whole community should be thankful for all of their contributions.After many years of service to SDSF, Theresa Henle has resigned and we appreciate her work and efforts over these years. She helped out with many of the West Coast ASH meetings that SDSF has attended over the years as well as her 5 years on the Board. Thank you Theresa.
Another change is that Staci Bishop has resigned as our Angel Anna Basket lady. Thanks to Staci, we have had a very successful 5 years of baskets going out to patients in their time of need. Thank you Stacie!
Another person resigning is Jenny Jenuwine who is the creator of the beautiful crystal bracelets that have been helping to raise money for SDSF for years. Jenny is a mother of 2 SDS girls and served on the Board for many years. We truly appreciate her time and efforts that went into making these bracelets for all these years. Thank you Jenny! But read below for the replacements and other additions to our team!

~I thought that it would be interesting to see how much research has been done on SDS in the past year alone so check out the article below about all of the research that is taking place around the world!!

~We are preparing for the upcoming 6th SDS Scientific Congress (the doctor committee has been accepted. It is a medical meeting and not organized by laypeople like us at SDSF) -inviting past grant recipients, preparing for our annual Medical Advisory Board meeting, and more. Please read below for important information about the new pricing structure for patients/families

~I hosted a successful Rare Disease Day event at our Massachusetts State House and spread awareness of our disease to more people and pharmaceutical companies. read below.

~ I attended the Genetic Diseases in Children conference in New York City which as terrific! read below too

So many exciting things happening!! I hope that your lives are going as well as can be while perhaps caring for your SDS child, family member or friend!

Peace,

Blair Van Brunt, President SDSF

Our Newest Members of our SDSF Team

Please welcome Ed Bickel as our newest member of the Board of Directors - Thanks Ed! We have asked him to write a little something about himself.

My name is Ed Bickel and I am very happy to be joining the Shwachman Diamond Syndrome

Foundation Board as a Creative Media PublicRelations / Fundraising / Idea guy. Say that fivetimes fast . . .

My wife Sarah and I live in the Shenandoah Valley of Virginia, and are parents of two fun-loving children. Quinn, our SDS child (5), and Ari (2). Sarah is a Teacher, and I own a Video Production Company. With this combination, we would like to Help Educate, Provide Visualization, Enlighten, and continue to Nurture and Grow the Shwachman Diamond Syndrome community.

I discovered (SDSF) this wonderful group of folks on our first trip to Camp Sunshine in 2008. They have been a shoulder to lean on, a resource to learn from, and a place to both Love & be Loved. I am looking forward to getting Shwachman Diamond Syndrome on the map, to create awareness, to find ways to fund research for the cure, and provide support to those families with new diagnosis, and to continue to help those who have joined with us provide hope for a better tomorrow.

Quinn was diagnosed at 6 months of age, almost by accident, and since then we have developed a sense of vigor and persistence to find the best (knowledgeable) doctors, and coach our other doctors by explaining what SDS is and help guide them with what we have learned from our experiences, and from those who have gone before us. I am really

excited about this opportunity.

OUR OTHER NEW MEMBER OF THE TEAM: JANE FITZ

Jane has agreed to take over Staci Bishop's role as coordinator of the Angel Anna Baskets. She has already been busy sending baskets off to those who are in the hospital and we are grateful for her help. Please read below about her family.

The outgoing Coordinator, Staci Bishop, wrote to us:

I was asked to become the Angel Anna Coordinator when we were at Camp Sunshine in July of 2006. We were so excited to be able to help families and give back. The kids have always enjoyed helping to get the gifts for others and it has been very rewarding for them. Davison is now 11 and has endured 10 surgeries along the way. He is still very small (41 inches) and has a feeding tube. Otherwise, he is happy and healthy and very willing to share his story with others. Zach is now 8 and keeps busy with action figures and Star Wars.

Kylie is 6. She is a miracle and is a 10 - 10 match for Davison should he ever need a transplant. They are typical siblings and are all very active.

All the SDS families are always in our thoughts and prayers and we wish everyone the best.

REGIONAL FAMILY CONTACTS

We are blessed to be able to add 3 new families to our Regional Family Contact List which eventually be on the web site on the Contact Us or the Talk to SDS Famlies page:
The Bodrons - Texas

The Hohns - Colorado

The Bowmans- Seattle, Washington

The Fitz Family Story

I asked Jane Fitz, same woman who is now our Angel Anna basket lady, to write us her family story. She did and posted it on Facebook a few days ago for those who may have read this already. Thanks, Jane!

My daughter Joyce was born May 2, 2008. I thought this was going to be my easy baby because my son who is two years older was the tough one. And the first day was easy but beyond that I just didn't have a clue. She had rashes all over her skin and would eat so fast that she would choke on her bottle. She was just hungry and uncomfortable all of the time. I took her to doctor upon doctor saying something just isn't right. Finally one night I didn't know what to do because her face and eyes were all swollen. So I took her to our local Ready Care place. The doctor there I will never forget. He said: we don't solve big mysteries like this but it is a general rule in pediatrics that if mom thinks something is wrong, something is wrong.

For us the answer came when Joyce had a bout of low sugars. I couldn't wake her up one morning. She was 19 months old. Her sugars were 36 (normal would be 80-100). She was in our local hospital for a week and we were told to follow up at Children's Hospital of Philadelphia. So they started investigating: enlarged liver, a few illnesses with a low ANC and repeated hypoglycemia. I went to several specialists and it was GI-he just started asking a lot of off questions like my pregnancy history (I have had 4 miscarriages). He mentioned Shwachman Diamond Syndrome and we looked it up and my husband and I gasped. It described Joyce to a "T". A genetic test proved him right. My son does not have it and is not a carrier. My daughter also has Hypoglycemia which doctors feel is separate from SDS.

So here is what I have learned about having a kid with a rare and scary illness:

No matter how sick your kid is there is one sicker-going to a Children's Hospital on a regular basis really puts things in perspective. I have seen and met a lot of moms and kids and I have to say when Joyce is well she is fine. Although we have had a lot of hospital times it pales in comparison to others.

My kids and their life will not be the same as other kids. Joyce is often in the ER and I have to bring my son along. Once a nurse asked if I wanted to take my son out while they took Joyce's blood and I was like huh?? He is used to it and he comforts her. In their life this is their normal and that's ok.

It's ok for me to spoil both of my kids. Too bad if no one likes it but my kids go though some stuff that others don't. If I have to go into debt to buy them some toys to make them feel better so be it. Most kids don't do all day ER visits every month or so.

When people say "but she doesn't look sick" it is a double edged sword. Nope she doesn't but she is and although that comment annoys me I have to remember I am so lucky that most times she is fine.

There is a stress hang over. Because our kids are in and out of the hospital, I try so hard to go right back to normal when we get home from the hospital. Which is fine. And it usually does go back to normal but somehow the stress will hit at some point.

I don't and won't ever know how to handle that dark cloud that hangs over our family: Will I see her go to a prom? Will she get married, have kids? Will she even be able to resist the germs of preschool? How badly am I going to miss her if the unthinkable happens? But friends really help - SDS friends, as well as friends that have nothing to do with SDS, so I can just escape for a while.

I took Joyce to the doctor today because she has a rash on her face. You can never be too careful but knowing the mere act of putting her in a docotor's office will probably land us in the hospital. The little girl next to us cheerfully says "I have a fever!" and I find myself saying cheerfully out loud "Oh kids they pick up stuff" much like I say "Oh just put your stuff anywhere" when people come into my well ordered home-my OCD cringing.

In This Issue

New SDSF Team Members

The Fitz family story

Rare Disease Day State House event

Genetic Diseases in Children Conference Summary

20 Most Recent Research Articles

Fun-d Raising Ideas

Participate in Research Studies

Thank you for your Donations

Welcome New Families

SDSF Important Links:

Donate to SDSF

Be Part of the SDS Registry

Medical Scientific Advisory Board

Regional Parent Contacts

- We have 3 new contacts for this list that haven't been updated to the web site yet. The Bodrons in Texas, The Hohns in Colorado and the Bowmans in Washington (Seattle). Please email us for their contact info if you would like to get in touch with them.

Doctor Database

Adult Patient Resources

Receive Hospital Care Basket

(Angel Anna Basket)

Participate in Research

Click here to see the clinical trials being conducted as registered by the NIH

Purchase Your Own SDSF Bracelet

Please note that we are no longer selling the crystal bracelets and this will be taken off the web site. PLEASE BUY THE RUBBER BRACELETS OR THE FLASHDRIVES

NEW UPDATED SDS REGISTRY WEB SITE

NOW UP

Not only is the newly, re-done web site up with tons of new information about how to register your patient's data and blood and tissue samples, but there are now forms that can be downloaded, filled out and sent in to expedite the process.

A word on registries - by Blair

It seems that everybody wants in on the registry business! There are already many disease-specific registries and many others forming. There are others that are forming that will be all-rare- diseases based, forming through NORD (National Organization of Rare Disorders), the NIH (National Institutes of Health) and even private companies. Everyone wants to get our data.

I would like to make a plea to you all that if you are going to take the time and effort to join a registry that it be the SDS Registry sponsored in part by all the SDS support organizations, the Severe Chronic Neutronia Registry, NIH and more. This is the only registry that matters FIRST for SDS. If you do join another registry, please please please make sure that you get your data and annual updates to the SDS Registry first.

thank you!!

UPDATE ON 6th INTERNATIONAL SCIENTIFIC CONGRESS

This is a bi-annual event that SDSF contributes $12,000 to because it is so important to support this conference which is the only conference dedicated to discussing only SDS. It is organized and run by a committee of scientists and doctors for the sake of bringing together as many researchers, scientists, doctors, student/grads/fellows and clinicians as possible who are researching, learning about and/or treating SDS for a conference of panel talks, research paper presentations with Q & A, and poster board presentations all dealing solely with SDS. There will be many brilliant minds at work in one space for 3 days to help our patients with SDS eventually get better treatments and maybe a cure!!

As you have read in the past newsletters on the the web site, the Congress will take place in New York City June 28-30, 2011. This conference is open to patients and families as well and there is a special discounted rate for patients/familes at $295 per person for the 3 days. There are additional costs for dinners etc. Please read more about it here

My Event at the Massachusetts State House - Blair Van Brunt

NATIONAL RARE DISEASE DAY February 28, 2011
"Alone We Are Rare, Together We Are Strong"

I just have to tell you about the celebration that I organized at our Massachusetts State House a month ago. After writing our Governor and receiving word that he would declare Feb 28th as Rare Disease Day, I decided to create an event that could create awareness for the day, for the disease organizations that are in the Boston area and of course, for Shwachman Diamond Syndrome!! And it was a huge success! I had to obtain local congressional permission to hold this event inside the State House and present all sorts of paperwork and consents to do this but I partnered with another non-profit that represents the biotech industry here in Massachusetts, who had also requested a proclamation from the Governor, who helped with the publicity aspects. To make a long story short, after many phone calls, emails, visits to the State House and to other organizations, the event went off smoothly. speaker at Rare Disease Day event at Mass State house feb 28 2011

Banner from The Manton Center for Orphan Disease Research at Children's Hospital Boston of kids handprints

We ended up with approximately 80 people in attendance and had a panel of 5 speakers.We had a senior scientist who helped find a drug for a rare disease, a CEO of a pharmaceutical, a VP of the charitable foundation of another pharmaceutical, the VP of the Mass Biotech Council (who helped publicize the event for me as mentioned above) and me! Unfortunately, the VP of Public Policy for the National

Organization of Rare Disorders, Diane Dorman, canceled her speaking part that morning due to illness. Rare Disease Day panel of speakers and Gracie feb 28 2011

Rare Disease Day panel of speakers and Gracie feb 28 2011

We all had the same general message that rare diseases are important to the general public. Why? Rare disease research can hold the key to unlock doors to larger population diseases; they affect everyone in some way because we all know someone in our families or communities with a rare disease and we all want to help; they cost all of us more money than commonly known diseases due to the length of time they take to diagnose and treat; and lastly gains in one rare disease can help another rare disease that can be linked.
Our press releases not only promoted attendance but follow up newspaper articles - and lots of them! The bottom line for the SDS community is that we gained a lot of awareness for SDS which can only translate into good things to come!! The more that scientists, pharmaceutical companies, corporations and the general public know about SDS, the more chance we have of gaining more funding, science and drug discovery.

The celebration ended with our daughter, Gracie, singing a song that she wrote entitled "Brave' which is her song about living with a disease. Here is the link to her video of it if you are interested. Go to YouTube or the link below

http://www.myspace.com/gracievanbrunt

Genetic Diseases in Children Conference, March 7,8, 2011 - Blair Van Brunt

I attended a conference in New York City entitled Genetic Diseases in Children on March 7 and 8. It was an amazing conference with amazing speakers and so much networking!!

The Genetics Diseases of Children Conference was presented by the New York State Department of Health's Wadsworth Center in conjunction with the National Institutes of Health's Office of Rare Diseases Research, the National Institutes of Health's Office of Dietary Supplements, Genetic Alliance, the National Organization for Rare Disorders (NORD) and the Jeffrey Modell Foundation.

The conference goal was to develop recommendations for establishing a comprehensive, state-based model that will effectively: facilitate early diagnosis; improve access and quality of care; optimize the coordination of provider services; and foster high impact clinical research to expedite improved medical treatments. This national conference brought together the worlds of science, government, and industry with the families who look to them for answers.

I was really busy meeting people from organizations like ours to meeting CEOs of pharmaceuticals and scientists from many of the sponsoring organizations as well as ones who were just there to learn like me.The conference offered a comprehensive agenda presented through four plenary sessions and over 35 panel discussions covering five independent themes:

Reaching An Early Diagnosis
Sharing Family Experiences
Optimizing Care And Coordination Of Services
Children Living With A Genetic Disorder: Meeting Their Needs
Accelerating Research

I tried to attend as many different themed discussions as I could and it was fascinating to hear so about much vital information from scientists, pharma companies that can apply to SDSF. It was also important for me to hear from patient advocacy groups like ours and how they fundraise, support families, support basic science, support directed science towards treatments and cures and how and when they approach pharmaceuticals for drug discovery.

This conference was fantastic for me to be a part of a larger rare disease community and try to learn how we can improve the way we operate in our SDS community.

The 20 Most Recent Research articles from 2010

I thought it might be interesting to some see the listing of the most recently published medical/research articles created in 2010 alone. 20 of them are listed below but there are 40 in total that were published in 2010. There have been 276 published articles since 1971. Very exciting! Even though we are involved with such a rare disease, there are researchers who have been working on it for a very long time!! It is important to support this research community which is why we financially contribute to the Scientific Congress - $12,000 contributed to this year's Congress in New York City. So have a look see through these articles. Some link through to an abstract and some don't. Here is the link to the Pub Med site (part of the NIH) for you to peruse the other articles as well. www.ncbi.nlm.nih.gov/pubmed and type Shwachman Diamond Syndrome into their search bar.

1: Burwick N, Shimamura A, Liu JM. Non-diamond blackfan anemia disorders of

ribosome function: shwachman diamond syndrome and 5q- syndrome. Semin Hematol.

2011 Apr;48(2):136-43. PubMed PMID: 21435510.

2: Huang JN, Shimamura A. Clinical spectrum and molecular pathophysiology of

Shwachman-Diamond syndrome. Curr Opin Hematol. 2010 Nov 30.PubMed PMID: 21124213.

3: Gadalla SM, Cawthon R, Giri N, Alter BP, Savage SA. Telomere length in blood,

buccal cells, and fibroblasts from patients with inherited bone marrow failure

syndromes. Aging (Albany NY). 2010 Nov;2(11):867-74. PubMed PMID: 21113082;

PubMed Central PMCID: PMC3006028.

4: Leung R, Cuddy K, Wang Y, Rommens J, Glogauer M. Sbds is required for

Rac2-mediated monocyte migration and signaling downstream of RANK during

osteoclastogenesis. Blood. 2011 Feb 10;117(6):2044-53. Epub 2010 Nov 17. PubMed

PMID: 21084708.

5: Sack JE, Kuchnir L, Demierre MF. Dermatofibrosarcoma Protuberans Arising in

the Context of Shwachman-Diamond Syndrome. Pediatr Dermatol. 2010 Nov 12. doi:

10.1111/j.1525-1470.2010.01244.x. [Epub ahead of print] PubMed PMID: 21073512.

6: Bizzetto R, Bonfim C, Rocha V, Soci� G, Locatelli F, Chan K, Ramirez O, Stein

J, Nabhan S, Miranda E, Passweg J, de Souza CA, Gluckman E; Eurocord and SAA-WP

from EBMT. Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia. Haematologica. 2011 Jan;96(1):134-41. Epub 2010 Nov 11. PubMed PMID:21071499; PubMed Central PMCID: PMC3012777.

7: Khan S, Pereira J, Darbyshire PJ, Holding S, Dor� PC, Sewell WA, Huissoon A.

Do ribosomopathies explain some cases of common variable immunodeficiency? Clin

Exp Immunol. 2011 Jan;163(1):96-103. doi: 10.1111/j.1365-2249.2010.04280.x. Epub

2010 Nov 9. Review. PubMed PMID: 21062271; PubMed Central PMCID: PMC3010916.

8: Rochowski A, Sun C, Glogauer M, Alter BP. Neutrophil functions in patients

with inherited bone marrow failure syndromes. Pediatr Blood Cancer. 2010 Nov 5.[Epub ahead of print] PubMed PMID: 21058292.

9: Ambekar C, Das B, Yeger H, Dror Y. SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth. Pediatr Blood Cancer. 2010 Dec 1;55(6):1138-44. PubMed PMID:20979173.

10: Bunin N, Guzikowski V, Rand ER, Goldfarb S, Baluarte J, Meyers K, Olthoff KM Solid organ transplants following hematopoietic stem cell transplant in children. Pediatr Transplant. 2010 Dec;14(8):1030-5. doi: 10.1111/j.1399-3046.2010.01401.x.Epub 2010 Sep 15. PubMed PMID: 20846242.

11: Toiviainen-Salo S, Savilahti E, M�kitie R, M�kitie O. Shwachman-Diamond syndrome--a diagnostic challenge. Duodecim. 2010;126(14):1711-9. Finnish. PubMedPMID: 20804090.

12: Morello LG, Hesling C, Coltri PP, Castilho BA, Rimokh R, Zanchin NI. The NIP7 protein is required for accurate pre-rRNA processing in human cells. Nucleic Acids Res. 2011

Jan;39(2):648-65. Epub 2010 Aug 26. PubMed PMID: 20798176; PubMed Central PMCID: PMC3025556.

13: Leguit RJ, van den Tweel JG. The pathology of bone marrow failure. Histopathology. 2010 Nov;57(5):655-70. doi: 10.1111/j.1365-2559.2010.03612.x.Epub 2010 Aug 19. Review. PubMed PMID: 20727024.

14: Pressato B, Marletta C, Montalbano G, Valli R, Maserati E. Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Syndrome. Br J Haematol. 2010 Sep;150(5):632-3. PubMed PMID: 20718726.

15: Wong TE, Calicchio ML, Fleming MD, Shimamura A, Harris MH. SBDS protein expression patterns in the bone marrow. Pediatr Blood Cancer. 2010 Sep;55(3):546-9. PubMed PMID: 20658628; PubMed Central PMCID: PMC2913690.

16: Hashmi S, Allen C, Klaassen R, Fernandez C, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton J, Brossard J, Samson Y, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand J, Beyene J, Dror Y. Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. Clin Genet. 2010 May 22. doi:10.1111/j.1399-0004.2010.01468.x. [Epub ahead of print] PubMed PMID:20569259.

17: Stormon MO, Ip WF, Ellis L, Schibli S, Rommens JM, Durie PR. Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome. J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):8-13. PubMed PMID: 20512054.

18: Alter BP, Giri N, Savage SA, Peters JA, Loud JT, Leathwood L, Carr AG, Greene MH, Rosenberg PS. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol. 2010 Jul;150(2):179-88. Epub 2010 Apr 30. PubMed PMID: 20507306.

19: Shah N, Cambrook H, Koglmeier J, Mason C, Ancliff P, Lindley K, Smith VV, Bajaj-Elliott M, Sebire NJ. Enteropathic histopathological features may be associated with Shwachman-Diamond syndrome. J Clin Pathol. 2010 Jul;63 (7):592-4. Epub 2010 May 24. PubMed PMID: 20501449.

20: Linden T, Ehlert K, Niemeyer CM, Fleischhack G, J�rgens H, Rossig C. Molecular diagnosis of Shwachman-Diamond syndrome in a child with incomplete clinical disease phenotype. Pediatric Blood Cancer. 2010 Jul 15;55(1):177-9. PubMed PMID: 20486183.

ONGOING FUN FUNDRAISING IDEAS

In an effort to increase awareness of Shwachman Diamond Syndrome and fund ongoing research and family support I am conducting a flash drive fundraiser. All funds raised will be donated to the Shwachman Diamond Syndrome foundation. The flash drives sell for $15.00 and are 2GB, the perfect size to hold family medical records, or schoolwork for your budding scholar. Order one for yourself, or many to resell!

To place an order simply send me an email letting me know how many flashdrives you would like. Payment can be made through our Donate button on the SDSF website

You can also send a check to:

SDSF

127 Western Ave,

Sherborn, MA 01770

If the purchase is made in honor of a particular person, please let us know so that we can note it in the next newsletter.

For more information contact:

Donna Garfield, SDSF Board member

[email protected]

703-731-7889

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.