Greetings!
Wow! Is it just me or did summer pass far too quickly? Now it’s back to school and another year of worrying about COVID, especially for the under 12 year olds. Like everyone else, we wish this would simply vanish.
This is a very busy newsletter and I hope you all take a few minutes to read it.
An update on a few things. On August 24th, we will be attending the World Orphan Drug Congress. This is a unique opportunity to speak to government officials from the FDA and Food and Drug Administrations, as well as other rare disease organizations and drug company representatives, who are interested in working with the rare disease community to develop curative therapies.
In December, after a year off due to COVID, we will attend the (ASH) American Society of Hematology Meeting where we will exhibit, attend presentations on the latest research, and speak to hematologists from around the world, to provide them with information about SDS. This year we will be focused on engaging hematologists in the adult medical community. Our wish is to develop a database of adult community hematologists, who specialize in bone marrow failure diseases to provide care for our adult patients.
Also, in this newsletter, you will find a short article from Julia Hawkins, Trustee of SDSUK. We have been working with the English group and researchers, for some time now, to develop a roadmap to a cure. Julia’s article will provide a link that will explain this initiative. Julia will also be hosting video meetings, in the near future, for families to discuss the project and get family feedback. This is a comprehensive, International, and well planned project. I hope all of you will take the time to participate in the meeting/s. This project is focused on a patient centered program to benefit all SDS patients. We’re proud to be part of it.
Stay well and enjoy the Autumn weather.
Joan Mowery
President
Shwachman-Diamond Syndrome Foundation
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COVID-19 Vaccine Information |
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We have had many questions about whether or not the COVID vaccine is safe for our SDS patients. We asked one of our medical advisors, Dr. Kasini Myers of Cincinnati Children’s Hospital and this is her recommendation:
“The SDS registry continues to support vaccination and we are not aware of any particular concerns with the vaccine or complications specific to SDS but of course recommend patients and families discuss any concerns with their primary doctor who knows them best.”
So you can feel safe getting the Covid vaccine for your child if they are over 12 and your primary doctor has no concerns. Stay safe out there, everyone!
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Did You Get Your Copy of the SDS Glossary? |
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How to Communicate About SDS and Our Children's Needs?
by Christian Del Ré
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September can be a time of anxiety in any home with the start of a new school-year, especially this year with the all the uncertainty. Kids are nervous, parents are nervous, and between battling to get back into school routines, we also have to worry about whether or not our child’s teacher knows what SDS is and what special needs have to be met each day . . .
For the past five years my wife has scheduled an appointment with the school principal, and before the start of the year, she meets with the administrative team as well as Anthony’s teachers to give them the SDS 101 talk and to go over what special considerations Anthony needs while in school . . . .
I have attached some of the documents we use each year; feel free to adapt and edit them for your own family. Here is also a check-list of important things you may want to do before the start of the school-year . . . .
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Thank you everyone for helping make SDSF Live such a success.
It all started with a feeling, the feeling of acceptance. The feeling of a warm coffee on a cold morning amongst other families who understand. If you have never had the pleasure of attending camp sunshine, it feels like that. The in-between summers are some of the hardest times to make it through because we don’t have that feeling of love there. At least, not in the same way.
SDSF Live began as an idea to bring that warm fuzzy feeling into your homes. Almost two years have gone by and we have seen an incredible response to our dream. Thank you for inviting us into your homes to feel the hard things with you, and to guide you through those uncertain times. Together we have weathered a pandemic, and we are still in the trenches with you.
Over the last two years we have had over 20 shows. We have had the top medical experts in their respective fields, and those that have made it their life mission to study Shwachman-Diamond Syndrome. The guest for our latest show was none other than Dr. Johana Rommens. She is credited with finding the gene that is identified in SDS. It was a wonderful insight into the research that has gone into studying this rare disease, and what strides have been made in finding curative therapies.
We wanted to bring that warm fuzzy feeling into your homes, and I hope we have succeeded in that. Thank you for keeping us going. Like Nicole and I always say, we do this show for you. We want it to work for you.
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A Message From the Board on SDS Research |
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We have been told by several families that they have been given false information about SDSF and current SDS research. For anyone to say that SDSF in any way impedes research is a blatant lie. There are 3 members of the SDSF Board of Directors who have lost their child to SDS. To even imply that we would do anything to hinder research is insulting.
We have always encouraged and funded research for SDS—starting with the research to find the gene mutation that causes SDS. We have funded and are currently funding several research projects, including those for drug development and research to identify the trigger that causes transformation to leukemia in SDS patients.
There are currently two separate groups of researchers attempting to develop a curative drug therapy for SDS. Both groups have been working on this project for almost 5 years and they are using current mouse models in this research. While they have made progress, they are not close to human trials yet.
SDS is a very complex disease. It is seen in every cell of the patient’s body. We are pleased that the NIH, a publicly funded agency, has granted a research grant to develop a new mouse model. The fact that this research is publicly funded will allow for this mouse to be available to all interested researchers.
We would like to make it clear that a mouse model is simply a vehicle to test various therapies. The researchers will try to make a mouse that mimics SDS in humans. This has been done in several different diseases. It is not always successful. Also there is the fact that therapies tried in a mouse, or other animal models, may not respond to therapies in the same way humans will. You should also be aware that there are other ways to test curative therapies. One of which is to use actual patient cells.
Plainly put, this is a long process. As much as we wish it were true, SDS will not be cured by a pill. We will continue to work with researchers and scientists to develop all therapies. And while we are all waiting for a cure, we will also help and support families in anyway we can.
We wish you health and happiness.
SDSF Board of Directors
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Dr. Seth Corey is working on a number of research projects. He is using zebra fish to complete longitudinal studies of the various organs.
Additionally, he is working with the Italian SDS group to study a drug they are investigating. Dr. Corey is also working with a medicinal chemist and structural chemist at Cleveland Clinic investigating new therapeutic drugs for SDS.
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Update on SDS Registry Research: August 2021
Despite the COVID19 pandemic, the SDS Registry has been hard at work in partnership with all the patients and families participating in the Registry. Together we continue to make progress in understanding SDS and developing better treatments. A huge thanks to all the patients and families committed to accelerating research on SDS by sharing their experiences and samples with the Registry.
A few published research spotlights are highlighted below:
1. SDS and inflammation: Through the SDS Registry, we learned that some patients with SDS have developed inflammatory conditions involving the skin, eyes, bones, or joints. This was a collaborative effort with experts in ophthalmology, rheumatology, and proteomics. Through the Registry we also learned about treatments and outcomes of these inflammatory conditions, providing valuable information for future patients and physicians.
2. Outcomes of leukemia in SDS: The SDS Registry collaborated with physicians around the country to learn more about MDS and AML in SDS. We found that current standard chemotherapy and radiation treatments for leukemia are not very effective in SDS and also cause excessive side effects in SDS patients. We found that following blood counts alone is an ineffective surveillance strategy to identify individuals at risk for future impending leukemia. Patients with only mildly low blood counts still remain at risk for leukemia.
3. SDS and leukemia surveillance: Improved strategies are needed to identify patients at high risk vs. low risk for future progression to leukemia. To address this knowledge gap, the SDS Registry, in collaboration with Dr. Coleman Lindsley, investigated the acquired genetic changes (“mutations”) that develop in the bone marrows of patients with SDS. We identified a distinct mutation pattern in SDS leukemias; these patterns will guide risk stratification and surveillance strategies. We also identified common mutations that did not progress to leukemia – these mutations provide potential new therapeutic targets to improve blood counts while reducing the risk of leukemia.
4. SDS and stem cells: The SDS registry collaborated with Dr. Hartmut Geiger to look at the fundamental organization of bone marrow stem cells (polarity) and how this is different in patients with SDS, and within SDS how this is different in those who go one to develop leukemia. In this work we identified pathways to further explore for new potential therapeutic targets to improve blood counts or decrease risk of leukemia
A few ongoing projects are highlighted below (not yet published):
-Survey of COVID19 in SDS. The SDSR circulated a questionnaire about COVID19 infections and vaccinations to patients with SDS and plan to share aggregate anonymous responses with the SDS community.
-Hematologic complications with age in SDS. To understand the natural course of SDS, the SDSR is analyzing blood counts and blood complications at different ages in patients with SDS.
-Non-hematologic complications in SDS. The SDS Registry is investigating non-blood-related complications of SDS.
-Development of novel treatments for SDS. The SDS Registry has numerous ongoing projects and collaborations to develop new treatments with the goal of finding a cure for SDS.
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SDS Cure Roadmap
Toward a future where people with SDS live healthy and complete lives. SDSUK has led an effort to create a multi-year, multi-modality drug development plan, which will set up an organization to make strategic investments in therapeutics readiness, clinical trial readiness and SDS-focused biotech startups.
SDSUK has partnered with Ethan Perlstein, Founder and CEO of Perlara, and has worked closely with Professor Alan Warren, PhD (University of Cambridge), Joan Mowery (President of SDS Foundation), David Grainger, PhD (Chief Scientific Advisor, Medicxi Ventures) and Yael Weiss, PhD (VP Business Development, Ultragenyx).
The First draft of the Roadmap is here (a non-technical summary version is here).
The team is now further engaging all researchers and clinicians and would love to involve patients and patient groups.
Information and Q&A sessions will take place during Q4, with the first session on September 24th @ 9am PT / 12 noon ET / 5pm UK.
Please register here,
We hope you can join us!
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Although we fight daily to save the lives of SDS patients and search for a cure, we must acknowledge those for whom a cure did not come in time. |
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Andrew Bryan Lillywhite was born July 1, 2012. He was the first baby born that month at our local hospital. He was beautiful with his blond hair and blue eyes, and we were filled with joy and love. It quickly became evident he was having to overly work to breathe, and he was put on oxygen. After a few days of them not knowing why he was still struggling, he was flown to the closest major hospital with a NICU, three hours away from our home in New Mexico. There, after much imaging and bloodwork, Shwachman-Diamond Syndrome was introduced to us.
Andrew only lived for three and a half months. That is so little time, and yet time seemed to slow down inside that hospital. Many memories filled that time, and most of them were hard, but we are beyond thankful for each moment we had with Andrew. He had strawberry blond hair that stuck straight up and earned him the nickname Dash from The Incredibles from some of the nurses. Andrew loved snuggles, his loveys, Baby Einstein, being read to, and people watching. You could tell he had an old soul. Most of the time he looked very serious and would often place his pointer finger against his chin, as if deep in thought. But he started giving the biggest smiles around two months of age. Andrew had numerous spinal taps, countless pokes for bloodwork, x rays and other imaging, tracheotomy, g tube surgery, emergency surgery for a liter and a half of fluid in his abdomen, bone marrow biopsy and aspirate, and only went outside for fun one time, but he was still full of sweetness, joy, and love. He taught us what strength was. One day, I broke down crying and couldn’t stop so they sent a counselor to talk with me. When I left the counselor and returned to Andrew, he smiled at me for the first time.
Andrew was briefly discharged from the hospital. We made it to the Ronald McDonald house and were there for a less than an hour before his oxygen level tanked and he almost died. We had to call 911 and were brought straight to the ER and admitted to the PICU. We were told the only hope to keep him with us was for him to be accepted by a hospital willing to give him the VEPTR chest expansion surgeries, but once the last place said he was too young, small, and sick, we knew we had to let him go. In the three weeks he had been back in the hospital, he had been coding more and more, even on 100 percent oxygen. His chest cavity was just too small to allow his lungs to expand properly.
His dad and I held him, and we were surrounded by family and friends when he passed away, almost nine years ago, on October 19, 2012. He has continued to touch the hearts of many and has been his brother Lincoln’s guardian angel. Five years and four days to the day Andrew was born, we had Lincoln, who also has SDS. Because of all that Andrew taught us, we were able to plan and make the best proactive medical choices for him, and he is currently doing very well.
We wish with all of our hearts that Andrew was with us today. To say we miss him is a gross understatement. It will always pain us that he is gone, and all that he suffered so much during his short life, but will forever treasure each smile and snuggle we got from him until we are together again. We are better parents and human beings for being able to love him and be loved by him.
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Medical Conferences Update |
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ASH
The annual American Society of Hematology meeting is scheduled for December 11-14, 2021. Click the link below to access their website.
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SDS International Congress
The SDS International Congress has been rescheduled for April 2022. Click the link below to access their website.
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Icing Smiles
Icing Smiles is a nonprofit organization that provides custom celebration cakes and other treats to families impacted by the critical illness of a child. They understand that the simple things, like a birthday cake, are luxuries to a family battling illness. Their goal is to create a custom cake for the ill child, or their sibling, that provides a temporary escape from worry and creates a positive memory during a difficult time.
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Feel Better Friends Project
Feel Better Friends are handmade dolls stuffed with love and well wishes, crafted by volunteers and donated to children battling cancer and other illnesses.
These well loved dolls are custom made with the child’s likeness in mind, matching eye and hair color, and replicating the child’s favorite outfit to the best ability. They can even be made bald like the child with a little matching wig too! They have almost 200 volunteers in over 6 countries eagerly making dolls for children in need.
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Beads of Courage
Beads of Courage provides innovative, arts-in-medicine supportive care programs for children coping with serious illness, their families and the health care providers who care for them. Upon enrollment each child is given the Beads of Courage bead color guide with a detachable membership card. Their Beads of Courage journey begins when each child is first given a length of string and beads that spell out their first name. Then, colorful beads, each representing a different treatment milestone are given to the child by their professional health care provider to add to their Beads of Courage collection throughout their treatment.
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I Run
IR4 fosters relationships. They see runners and buddies alike experience the profound power of encouraging and being supported by people who were once perfect strangers. Running can just be about health or it can be about dedicating miles and creating awareness for those with special needs whose conditions span the spectrum from total physical disability, to developmental delays, to autism spectrum disorders, as well as a myriad of rare conditions.
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Make a Wish
Make a Wish is for children diagnosed with critical illnesses, a wish come true can be a crucial turning point in their lives. A wish can be that spark that helps these children believe that anything is possible and gives them the strength to fight harder against their illnesses. This impact is why we are driven to make every one of these wishes come true.
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Victory Junction
Victory Junction is a medically safe, yet exhilarating camp, that challenges children who have a serious medical condition to try things they never imagined possible. As they conquer activities like zip lining and archery or experience bowling, fishing or swimming, children build confidence that will shape how they view the rest of their lives.
The magic happens on a lush 84 acres in the rolling hills of Randleman, North Carolina near Greensboro. Once children pass through their gates, the boundaries and limitations they live with on a daily basis disappear and they simply concentrate on having fun! That’s when they shine!
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Team Impact
Team IMPACT is a national nonprofit that connects children facing serious and chronic illnesses with local college athletic teams, forming life-long bonds and life-changing outcomes. Team IMPACT creates a network of support for children; a group that is in their corner to support and encourage them during their highs and lows. Children are officially drafted to the team, and become full fledged members, attending practices, games, team dinners, events and more.
Children gain support as they face medical challenges, while student athletes gain a whole new perspective. Through the power of team, kids and student athletes accept, motivate, and inspire one another — changing the game for everyone involved.
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"Peanut's" Story
by Tera Young-Clark
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. . . . Through all the trauma that he has been through, all the procedures, all the pain, this innocent baby that could not possibly understand, never stopped fighting. More than that, he never stopped smiling! He was always having fun in the little moments whenever he could. He’s made his medical teams laugh day after day. Once Peanut was released from the hospital, he never looked back! He is truly the happiest little guy that I have ever known and all he wants to do is have fun! Peanut has taught me so much along this journey. My biggest take away is that if he can get through all that he has, there’s not much that I can’t handle in any given day, right . . . .
Nolan, aka “Peanut” was born at thirty-eight weeks gestation via emergency cesarian. An ultrasound had shown that not only had he stopped gaining weight, but that his head circumference had stopped growing for a few weeks. He weighed just 5 lbs 3 oz, due to late term placenta insufficiency, in which the placenta stops functioning well. This causes the baby to receive a lack of nutrients in the womb and can halt development. . . It was noted that his white blood cell count was abnormally low. All I knew at the time was that he had a gorgeous head of dark hair, large, trusting eyes that looked even more round because his face was so tiny, hollow and pale. He also had the longest, thinnest fingers that wrapped tightly around mine when I fed him a bottle. I was smitten! . . .
Over the next few months, it seemed as though Peanut and I were part time residents at Children’s Mercy. He had admissions for viral infections, bronchial infections, failure to thrive and feeding studies, low blood counts. I was told that we weren’t feeding enough, so he got an NG tube and we had to push more formula above what he would eat by bottle still. As frustrating as it was, Peanut still could not gain enough weight to maintain any kind of a growth curve. Hematology did a bone marrow biopsy, with the idea that he might have leukemia. They had no other good ideas as to why his white blood cell counts and hemoglobin would be low one day and then bounce back the next, even without a transfusion. None of it made sense, nobody had answers . . . .
Peanut also now had a genetically confirmed case of Shwachman-Diamond Syndrome, his doctors told me that he would need a bone marrow transplant. They wanted him to gain strength and to have his transplant in Kansas City. After additional research, guidance from the SDSF support group and talking to other SDS caregivers, we decided that I would take Peanut to Cincinnati, OH for his transplant. This was important to us, so he could be treated by a doctor and a team that specialized in SDS and BMT. . . . Peanut seemed to catch everything during BMT. Rhinovirus, adenovirus, staph infections, G-tube infections, a central line infection. . . There were days that I would beg that the meds would just put him to sleep and silence his tears so that I could let mine flow as I held his little body close. . . .
When it was all over, Peanut was inpatient at Cincinnati Children’s for six months for his BMT and had spent all but a few weeks of his life at Children’s Mercy before going to Cincinnati. He was eighteen months old when we brought him home from the hospital, released, and it was a bit of a shock to him to break out of the hospital! Now, he is two and a half years old, hasn’t spent another night in the hospital since his release, and is loving life!
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Gift Card Fundraiser
by Pamela Miller
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. . . . I have started a Gift Card Campaign. I am asking for people to send gift cards to SDSF that can be used for meals, online shopping, or anything else that could be useful for our families who are facing transplant. This can help alleviate one specific need that the foundation funds. . . .
As many like to have a specific thing to see their donations going towards, rather than just going to a "General Fund," I thought this would be a perfect way to ask for help for SDSF. Many grocery stores offer points for purchases, I know mine can sometimes offer 4x fuel points for gift card purchases. So, the purchase of a gift card will help you and help the Foundation! Specifically, we can use these gift cards for meals for out of town families who are facing long hospital stays or transplants. . . .
Your gift of a gift card to SDSF can directly help these patients and parents. We have all been in a position where we are overwhelmed, scared, and just beyond our limits. Please help us help our families during these difficult times. . . .
Mail Your Gift Card to:
Shwachman-Diamond Syndrome Foundation
P.O. Box 6723
Florence, KY 41022
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Wade's World T-Shirt Fundraiser |
Each year, the family of Wade Wachter (10-year-old SDS patient) creates and sells "Wade's World" t-shirts as a fundraiser for SDSF. A t-shirt fundraiser is a very easy way to raise money AND it helps raise awareness for Shwachman-Diamond Syndrome. This year's design is complete and is attached to the right; the link to an online store will be available very soon. The message behind this year's shirt reminds us that there is currently not a cure for SDS and that we need to fund research to help find the cure! Proceeds from the shirt fundraiser will go directly to SDSF, which supports SDS research. If interested in purchasing a shirt, visit the Wade's World facebook page (@wadesworldteam) and be on the lookout for a link to the online store.
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The long awaited SDS Awareness Ribbons are finally ready! These ribbons are custom made double layer ribbons to bring awareness to SDS. Each ribbon will arrive assembled with a gold pin attaching them.
Ribbons are $5 per ribbon, or 3 ribbons for $12. Domestic shipping is included.
There is only a limited quantity of these - act fast!
These are great to spread awareness! Fill out the form below to place your order.
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We know that this is a challenging time for so many. We are asking that if you set up an online fundraiser for a birthday or special event or if you order from
Amazon Smile, please set Shwachman-Diamond Syndrome Foundation as your charitable organization. Every little bit helps us fund research so help find a cure for SDS!
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Halifax, NS
Romania
Louisville, KY
Italy
Austin, TX
Rotterdam, Netherlands
Lima, Peru
Saarburg, Germany
Lebanon, PA
Monzon, Aragon, Spain
Ham-Sur-Sambre, Namur, Belgium
Heber, CA
Nebraska
Leyland, Lancashire, England
Christchurch, New Zealand
Missouri
Winfield, Alabama
Landau, Rheinland-Pfalz, Germany
Ravenden, Arkansas
Dallas, TX
Montreal, Quebec
Wichita, KS
Dingwell, Scotland
Opp Alabama
Austin, TX
Port DeJastad, SC
Lucaston, MS
Sherman, TX
Nowata, OK
Beverly Hills, Australia
Port Lexussta, NC
Collins, MO
RockLedge, FL
Wurttemberg, Germany
Grandport, TN
South Ronaldo, CT
Donegal, Ireland
Halls Head, WA
Lansing, MI
Maplewood, MN
Rimouski, Quebec
Lake Grove, NY
Miramar, FL
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Thank You For Your Donations |
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Donations received between April 1 - August 16, 2021 |
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Gregory Olsen
Mark & Julie Martindale
Kristopher Walker
Robert Merk
Florence Owens
Linda Stoecklin
Bev Smith
Brandy Fredrickson
G Inferrera
Richmond Rotary Charitable Foundation
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PayPal Giving Fund
Your Cause
United Way Greater Niagara
Dell Giving
Benevity
GNE Paint & Supplies
BonFire T-Shirt Sales
Frontstream
Charities Aid Foundation of America
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In Honor of Marissa Avroch - Rose & Frank Canonico, Dianne Moschetta
In Honor of Troy and Kelsey - Cornelious DeBoer
In Honor of Addie Jacobs - Awesome Addie Foundation
In Honor of Jessica Bodron - Joni & Tim Bodron, Precision IBC
Brock-Bolen Wedding (In Honor of Chase) - Andrew Corona, Mary Lou Brock
In Memory of Dora Dorsey - Sharon Jansen
In Memory of Mikel Dijak - Vickie Cox
In Memory of Lois Vandenbossche - Alan Jenuwine
Special Thank You to the Rands Foundation for your generous grant to SDSF
The Many Supporters Through Facebook Fundraisers
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Thank you for your monthly donation
Indro Hoffmann
Maria Hall
Keung King Man James
Anthony Porrata
Jason Huttinger
In Memory of Michele Mowery - Joan & Greg Mowery
In Honor of Camden Kilcrease - Lisa Kilcrease
In Honor of Jonathan and Joseph Wall - Joyce Wall
In Honor of Jake Walden - Julie Walden
In Honor of Wade Wachter - Jennifer Wachter
In Honor of Marissa Avroch - Dianne Moschetta
In Honor of Keller Wilson - Stacy Spires
In Honor of Scott, Meagan, Jonathan Miller - Pamela Miller
In Honor of Riley Laber - Mary Balint
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SDSF would like to encourage everyone to raise funds to support research and the Foundation. We have had families raise money through letter writing campaigns, school dances, corporate matching gifts through their employers, golf tournaments, physical competition events, Super Bowl parties and more. |
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Shop The SDSF Online Store |
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Did You Get Your SDSF Car Magnet Yet? Click the Link Below to Get Yours and see what other SDSF Merchandise We Have! All Proceeds Support Finding a Cure for SDS! |
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Shwachman-Diamond Syndrome Foundation |
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FOUNDER: Joan Mowery 1994
BOARD OF DIRECTORS
Joan Mowery, President
Mary Balint, Secretary
Bryan Sample, Treasurer
Christian Del Ré, Communications Chair
Honey Denson, Patient/Family Education Chair
Stephanie Gregoretti, Fundraising Chair
Orva Jurado, Tech Expert
Nicole Shen, Membership Chair
Jenni Wachter, Webmaster
Carolina Cordova
Michelle Grenell
Savannah Lillywhite
Scott Miller
Pamela Miller, Executive Director
Other Amazing Leaders
Joyce Wall - Anna Angel Basket Coordinator
Maura Donahue - Advisor to the Board
Jess Johnson
ATTORNEY: Ann Bodewes Stephens, Herzog Crebs
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Have an article, update, or fundraising activity you would like to share in a future newsletter? Email your story to:
We would love to hear from you and share your stories!
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Shwachman Diamond Syndrome Foundation
888-825-7373
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