6th Bi-Annual Scientific Congress report

Donna Garfield, Joan Mowery and I represented SDSF at this 2 1/2 day conference on all things SDS. How wonderful it is to mingle with a group of dedicated, brilliant doctors and scientists who have not only become my heroes but also my friends. There were some SDS families attending as well and it was terrific to see familiar faces from the international support groups as well as some new faces from the USA and UK.  

A gigantic thank you goes to our sponsor to the prestigious New York Academy of Sciences and co-chair of the conference, Dr. Sridhar Mani, an uncle of an SDS patient, and a generous and dedicated man to not only his family but to the SDS community at large. Another gigantic thank you goes to Dr. Johnson Liu, the other co-chair who helped lead the committee responsible for inviting the presenters, creating the agenda and finding funding for the event. Other committee members who gave of their time and expertise were Dr. Elizabeth Kerr, Dr. Jeff LIpton, Dr. Outie Makitie, Dr. Johanna Rommens, Dr. Akiko Shimamura and Dr. Alan Warren. Thank you to all of them!!!    

The meeting was broken down in to 8 major categories: Clinical Features of SDS; Surveillance, Management and Treatment of SDS; International SDS Registries; Genetics and Disease Models of SDS; SBDS (the name of the gene-Shwachman Bodian Diamond Syndrome) Function; SBDS in Hemetopoiesis and Leukemia; Organ Development & Failure; Novel Diagnostics and Therapeutics. You can read all of the abstracts presented at this link  

The New York Academy of Sciences will be publishing a summary of the Congress in September and we will post it our our SDSF web site as soon as it is available.  

There was a also poster session at the end of each day of presentations. Read more about them here (click on the PDF "poster abstracts" that you see on the web page   

http://www.nyas.org/Events/Detail.aspx?cid=70e5206a-db99-47bb-af0f-444b814de403   

The Turkely Family Story

Cason Turkely 

Our SDS journey began 2 ½ years ago with the New Years Eve birth of our second child, Cason.  His older sister was 4 ½ when he was born and all of us were very excited to welcome baby brother into our family. He spent a few days in the NICU after birth with fluid in his lungs but once he got that taken care of, he was able to come home.  He was much fussier and slept much less than his big sister had but I didn't really think too much of it for the first several months.  As typical with many SDS kids, he started to fall of the weight curve between 6-8 months of age.  He had only started at the 3^rd percentile anyway so when he started falling off that, doctors started to take notice.

    Over the next 6 months, he was hospitalized twice for pneumonia and put on countless rounds of antibiotics and inhaled steroids with a nebulizer.  He also continued to fall off the weight curve despite the fact that he was now eating solid foods.  He was having many large, foul diapers each day and his liver counts were elevated as well.  We started to realize that all of his issues amounted to much more than just a fussy baby.   It is a horrible feeling to know there is something seriously wrong with your baby and not know what it is or what to do about it to help him.  

   Doctors started talking about failure to thrive and the possibility of severe food allergies.  We had him tested him for allergies, Cystic Fibrosis, Diabetes, GI issues, lung disease, heart disease, liver failure, you name it, he was tested for it.  After his 3^rd bout of pneumonia in 18 months and another scary ambulance ride to the ER for breathing issues, we were getting to the point where we needed answers.  All of the tests he underwent were invasive, expensive, hugely stressful and revealed nothing towards a diagnosis.  We were getting very frustrated with the whole process and not coming any closer to answers.  I will also say that that year was the hardest on my marriage of 13 years.  Constant guessing, thinking about this or that scary, terrible disease, trips to the hospital, taking time off work for a sick baby, mounting medical bills, all of which contributed to a HUGE amount of stress for both my husband and I.  The worst part was not knowing what was wrong.  The team of doctors we had assembled at the local Children's Hospital were a bit baffled as well.  They suggested that we retest for CF since that was the most likely explanation for the majority of his symptoms.  After a second negative sweat test, we were back again to an even more frustrating square one. 

   A friend of mine called me and said that she had been researching some on her own and found something in her search about negative sweat tests and what else could be going on.  She was the first person that ever mentioned Shwachman Diamond Syndrome to me.  My husband and I did some research on it and it seemed a likely possible fit for Cason's symptoms.  A few days later, we had another follow up appointment with the hepatologist and SDS was on my list of questions to ask her about.  It was at that meeting that she brought it up to me as a possibility as well.  We decided to do genetic testing for SDS and forgo the liver biopsy we had scheduled.  I met with the social worker on call who came in to check on my mental health and see how we were all dealing with things.  As she was asking, I burst into tears and said, "Well, I guess you can see how my mental health is holding up through all of this."  She suggested that we think about family counseling.  I was honest with her and said that with all the appointments we had to have and everything we were trying to keep up with, adding another appointment for mental health was just not going to happen at this point.  But she did have a good point.  My older daughter had gone through a serious germ-phobic phase after all of Cason's struggles that I had to discuss with the school psychologist.  My husband and I were not in a good place in our marriage.  I was in tears often over the whole situation.  I do think that some counseling would have benefitted us all.  We just simply didn't have the time, energy or resources for one more thing just then. 

   We started pancreatic enzyme supplements then, as the hepatologist was pretty sure about pancreatic insufficiency by that point.  The enzymes started making a difference in just a few days.  Finally, something we could do to help him feel better and begin digesting the fat he was missing despite the high calorie diet we had had him on for months. 

   We got the genetic test back that confirmed an SDS diagnosis about a week before Thanksgiving.  I remember being so relieved to finally have something definitive to go on.  I had been avoiding phone calls from friends and family for a long while because I just didn't know what to say to anyone.  It took me about a week of processing before I sent out a mass email explaining what we had been through over the past almost 2 years.  I attached a link to the SDS foundation for people to check out if they wanted to.  I thanked everyone for the amazing, constant support they had shown us throughout the process and said, please don't call me for a while.  I just need some time. 

   We pulled Cason out of daycare.  My mom came out to stay with him between Thanksgiving and Christmas break so I could have some time to research home care before the new year started.  I joined an online support group for parents of SDS kids that has been amazingly informative, helpful and reassuring.  It really helps to connect with a community of people who know what you have been going through and can guide you as you encounter new obstacles and celebrate with you as miracles happen along the journey.  We registered him in the SDS registry and the Neutropenia registry in hopes that our story can contribute to the continued search for understanding and research about SDS. 

   I would say at this point, that we are coming to terms with what we may face as Cason grows and new things that could develop for him.  He is in a much better place than he was last fall.  He is starting to grow, taking his meds, getting routine CBC's and bone marrow biopsies to help us track blood and bone marrow changes.  Our team of doctors knows what they are dealing with and are doing that they can to stay on top of his situation.   We are all in a place now where we realize that his future is uncertain. As a result, we are focusing much more energy on things that matter and a lot less on things that don't.  Hugs and bedtime stories are much more important than dishes and laundry.   I am learning more every day about how to help him and my binder of test results, doctor's visit notes and resources is filling up quickly.  We plan to attend Camp Sunshine next summer and connect with other families dealing with life with SDS.  In a situation where you really have no control over what is happening or what this all may develop into, I have found that knowledge is the only power I seem to have over any of it.  Learning about SDS is contributing to my understanding and my mental health in very positive ways.  We still have much to learn and a long journey ahead of us but I have adopted a mantra that has helped me and will continue to help me, my son and my family along the way.  Celebrate the good days.  Survive the bad days.  Keep getting out of bed and be grateful for each and every joy life brings you along the way. 

Genetic Alliance Information on Transition from Adolescence to Adult Care

A new clinical report-Supporting the Health Care Transition from Adolescence to Adulthood in the Medical Home-appears in the July issue of Pediatrics. The report is jointly authored by the American Academy of Pediatrics (AAP), the American Academy of Family Physicians (AAFP), and the American College of Physicians (ACP) and the provides practical, detailed guidance on how to plan and execute better health care transitions for all patients.

Abstract
Optimal health care is achieved when each person, at every age, receives medically and developmentally appropriate care. The goal of a planned health care transition is to maximize lifelong functioning and well-being for all youth, including those who have special health care needs and those who do not. This process includes ensuring that high-quality, developmentally appropriate health care services are available in an uninterrupted manner as the person moves from adolescence to adulthood. A well-timed transition from child- to adult-oriented health care is specific to each person and ideally occurs between the ages of 18 and 21 years. Coordination of patient, family, and provider responsibilities enables youth to optimize their ability to assume adult roles and activities. This clinical report represents expert opinion and consensus on the practice-based implementation of transition for all youth beginning in early adolescence. It provides a structure for training and continuing education to further understanding of the nature of adolescent transition and how best to support it. Primary care physicians, nurse practitioners, and physician assistants, as well as medical subspecialists, are encouraged to adopt these materials and make this process specific to their settings and populations.

To link to the full clinical report, please click here.  For a direct link to the algorithm that is included in the clinical report,, please click here.

Another interesting web site to check out is

Got Transition: New National Health Care Transition Center

Got Transition is the new National Health Care Transition Center supporting optimal transitions for youth from pediatric to adult models of care and their seamless transfer to adult health care settings. Got Transition will facilitate the implementation and dissemination of health care transition best practices in primary care medical homes and specialty settings, particularly for those youth and young adults with special health care needs. Got Transition is leading health care transition learning collaboratives with pediatric and adult practices in Washington DC, Denver, and Boston. Teams of physicians care coordinators, and consumer youth and family members are implementing the Got Transition Six Core Elements of Health Care Transition a health care transition toolkitinformed by the July 2011 AAP/AAFP/ACP clinical report. Teams are testing practice changes for their effectiveness and practicality to identify feasible improvement strategies.

For more information about Got Transition contact ann.walls@gottransition.org,  visit the Got Transition Web site, or follow Got Transition on Facebook.

Simplifying Care -by Joan Mowery 

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 

dkgarfield@verizon.net

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.    

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

SDS Rubber Bracelets can be bought through SDSF

CAN YOU SEND IN TISSUE? BLOOD? PATIENT INFORMATION?   

THANK YOU  FOR YOUR DONATIONS (April 1, 2011 - July 25, 2011)

WELCOME NEW SDS FAMILIES!!