Search our Site. Find Results Fast.

Gracie - a young adult SDS patient in the US, shares her story on how she found her voice though a beautiful article and her transplant journey through a lively vlog. Thank you, Gracie! Gracie on her "re-birthday" in 2019, when she received her bone marrow transplant. How I Found my Voice though Rare Disease Please read the article I wrote for PatientWorthy.com, here: https://patientworthy.com/2020/02/25/how-my-rare-disease-helped-me-find-my-voice. My advice for new families would be (from the perspective of the patient) to let their child lead as normal of a life as they can. Show them that this disease does not define them and that they can do anything they set their minds to. Instead of keeping their child in the dark and trying to control every decision and every doctor's appointment, educate them on what is going on and how they can care for themselves. Let them make some of the decisions (even if it's just a small one) and let them know that they are and will be entirely capable of caring for themselves. For a sibling dealing with their brother or sister having this SDS, make them aware of the bigger picture. Educate them too on what is going on and why their sibling cannot do certain things. And for parents, make sure the siblings get some attention and love too so they don't resent their sibling with SDS. -- Gracie My Bone Marrow Transplant I created a detailed vlog post about why and how I went though a bone marrow transplnat in 2019. Watch it here: https://youtu.be/DM0GmipSKP8

By Emily Williams / Boston Children's Hospital In this post, you can learn about the passion and efforts of a mother to a young daughter with Shwachman-Diamond Syndrome from the UK. Read the full article here: https://discoveries.childrenshospital.org/cure-shwachman-diamond-syndrome Don't miss the video in the article (linked above), highlighting the research program for Shwachman-Diamond Syndrome and bone marrow failure at Boston Children's Hospital! “I want to be making a difference. I don’t want to be in a position when Poppy is 20 — or at any point — to be told she is developing leukemia and not to have done everything I could. So, I’m doing everything I can now.” says Julia.

By Emily Williams / Boston Children's Hospital In this post, you can learn about the experiences of two families affected by Shwachman-Diamond Syndrome, and about their transplant journeys. Read the full article here: http://discoveries.childrenshospital.org/shwachman-diamond-syndrome-research/ Don't miss the video in the article (linked above), highlighting the North American Shwachman-Diamond Syndrome Registry (SDSR)! “People with SDS have an increased sensitivity toward the chemotherapy used during the bone marrow transplant conditioning process,” says Dr. Shimamura.

Max and his family are raising awareness for Shwachman-Diamond Syndrome and rare disease by participating again in the 2020 Jeans for Genes campaign, in Australia. Thank you!!! Max with his family Video: https://youtu.be/6eUsaZ6X_aw Read Max's story, here: https://www.jeansforgenes.org.au/max-2 And here: https://www.moreechampion.com.au/story/6842741/meet-max-one-of-the-smiling-faces-of-the-2020-jeans-for-genes-campaign/ Finding out that your child has a rare genetic condition [Shwachman-Diamond Syndrome] is hard enough. Discovering that it can progress into even more frightening conditions such as leukaemia and other life-threatening bone marrow disorders was truly terrifying for the family of three-year-old Max.

Gracie - a young adult SDS patient in the US, shares her story on how she found her voice in a great interview on Eureka's Sounds of Science Podcast, including samples of her music. Thank you, Gracie! Gracie van Brunt "My Rare Disease Does Not Define Me" Listen to the podcast and read some snippets, here: https://eureka.criver.com/podcast/e27-my-rare-disease-does-not-define-me. Gracie, who was diagnosed at a young age with the rare disease Shwachman-Diamond Syndrome (SDS), started quarantine in June 2019 after a bone marrow transplant. Just as she was ready to emerge, COVID-19 struck, pushing everyone into quarantine with her. "Everyone’s in quarantine and everyone has to follow the same precautions and everyone has to have this dark cloud of the coronavirus hanging over their heads. And I’m so baffled sometimes because everyone is literally in the same boat that I was in for so long..." -- Gracie Check out Gracie's music, for example "Run, Run, Run". https://youtu.be/w32wpnNWXtg And her YouTube channel: https://www.youtube.com/c/GracieVanBrunt/videos

Carter and his sister Skye both have Shwachman-Diamond Syndrome (SDS) and went through stem cell transplants, recently. They and their mom Karen are raising awareness about bone marrow failure to support Maddie Riewordt's Vision and bone marrow failure research, in Australia. Thank you Karen, Carter, and Skye!!! Carter and Skye, Australia View Carter and Skye's story, here: https://www.mrv.org.au/page/101/personal-stories Plus, don't miss out on the Patient & Family Forum 2020 held by Marrie's Vision (Australia): The inaugural Patient & Family Forum will be held on Friday 28 August, 2020. Maddie's Vision has selected a panel of experts to share their knowledge on Bone Marrow Failure Syndromes and invites you to join the audience in this livestreamed virtual event. https://www.mrv.org.au/events/2/patient-family-forum-2020

"Today I have an appreciation for the gift of life and the gift of trial, that I did not have prior to Henley. When I look back at the photos we took during the first two years of Henley's life, I sometimes can't believe that was our reality. " Jess and daughter Henley (who suffers from Shwachman-Diamond Syndrome) in the hospital, preparing for bone marrow transplant, in 2018 Sharing her story in her own words from a recent FB post, with permission: "Some of you have asked to read the article submission I made to Gritty Fatih Magazine for their May/June 2020 issue. Each issue of Gritty Faith has a theme, this issue was LIVING DESPITE THE BATTLE. I encourage you to check out The Norway Center Store online for more information about their mission. Some of you may not have known me during this time and today, from the outside looking in, our lives appear very normal. Today I have an appreciation for the gift of life and the gift of trial, that I did not have prior to Henley. When I look back at the photos we took during the first two years of Henley's life, I sometimes can't believe that was our reality. Specifically, the battles with her skin. No one would ever believe this was the same child. *As a side note, I continue to work on a book that will share more of the blessings and miracles we have encountered on this journey. #healinghenley" [...] Kyle and I began the “What if…” conversations. Looking back, these talks prepared us for the battle to come. We needed a plan to ensure we could still provide stability to our twins, care for our many horses and save Henley. In May 2017, my husband Kyle and I, welcomed our third child, Henley. Henley was born full term, yet smaller than anticipated. Only slightly larger than each of our twin daughters, who had been born a month premature. She seemed to need more care than our twins did as infants. She cried more, wanted to eat constantly and her skin would become so pale when she slept that I often checked to make sure she was still breathing. In my heart, I felt like something was wrong. Her pediatrician was concerned she wasn’t gaining weight and recommended we try feeding her formula or fortified breast milk instead of continuing breastfeeding. But Henley absolutely refused to drink from a bottle. At six weeks old, I finally felt heard when a new pediatrician, two hours from our home, agreed something was wrong with Henley and admitted her to the hospital. Within hours a Pediatric Oncologist was trying to tell me Henley may have leukemia or bone marrow failure. Her little body wasn’t making the red and white blood cells she needed to live. It was then that Kyle and I began the “What if…” conversations. Looking back, these talks prepared us for the battle to come. We needed a plan to ensure we could still provide stability to our twins, care for our many horses and save Henley. Utilizing this method of self preservation and calling for prayer from family and friends gave me strength. It helped me breath. I couldn’t be weighed down by anger, resentment or constant sadness over the battle we had been chosen for. Our cross was heavy enough. Instead, I felt driven to attach myself more than ever to God and called out to Him to help us. I began writing and sharing that testimony with others through a care page on Facebook we started called, Healing Henley. After nearly a week in the hospital and Henley’s condition deteriorating, a decision was made to fly her by air ambulance to the University of Minnesota Masonic Children’s Hospital. This first trip away from home with Henley lasted 45 days. During those 45 days, I saw our twins, who weren’t yet two years old, for less than 24 hours. It was painful and exhausting. We returned home with a diagnosis that changed our lives, but that didn’t mean we had to stop living. It just meant our life would be different than the way we had envisioned it. God had a plan for us. This battle would be a blessing. Henley was diagnosed with a rare type of bone marrow failure called Shwachman Diamond Syndrome. Our lives became filled with blood transfusions, daily medications, including injections we gave her, multiple trips to Minneapolis for doctor visits, hospital admissions and a life of isolation for our family. It was not just her bone marrow that was affected, her liver and pancreas did not function normally and her skeletal system showed deformities too. We sold most of our horses and used the money to purchase a vehicle that was more practical for frequent long trips. Driving a ranchy, one ton, crew cab, long box pick up to Minneapolis, sometimes multiple times a month, was not practical. Our twins didn’t participate in play dates or preschool. We didn’t attend church. We didn’t join our extended family to celebrate holidays or birthdays. Henley was just too fragile. As the months went on, Henley’s body began to fail even more. Our path to saving our daughter’s life was becoming clear, she needed a bone marrow transplant. We would kill her existing bone marrow, expect her to live through that and pray new cells, donated by a young man in Germany, would grow in her body and give her and our family a new life. In April 2018 our family of five temporarily moved from the peaceful solitude of our little ranch in western North Dakota to the congested, concrete jungle of Minneapolis. We anticipated a minimum of four months there. Living the best life we could live in our complicated circumstances and keeping Henley healthy were our biggest priorities. We thought about things that would make our lives easier during a time that would feel impossible. My husband took leave from work. We rented an apartment one mile from the hospital. It would be home for Kyle and the twins while I lived in the hospital with Henley. We hired a nanny to care daily for the twins so Kyle could help Henley and I as much as possible through the anticipated complications of chemotherapy and transplant. One day in Minneapolis, before Henley was admitted our family took a walk across the street from our apartment building. Kyle and I, Henley in her stroller, the twins running ahead of us on the walking path. It felt so normal. I stood still and took a picture. I wanted to freeze that moment in time and not face reality. The next day, Henley developed a fever and blood infection. She was admitted to the hospital a week earlier than planned. I yearned for the family walks I imagined us having and worried this life threatening blood infection would steal her from us forever. That night, after she was admitted, as we settled into our hospital room, I watched as Henley lay in her crib. She was smiling ear to ear and waving at someone or something I couldn’t see. It was the reminder I needed that we were not alone. Angels were standing by to guide us through this battle. Chemotherapy lasted 14 days. And after nearly three weeks in the hospital, she received her new bone marrow. After transplant though, we began to fight a new and mysterious battle of complications that stumped her doctors. Her skin began to swell, welt and peel off her body. Everywhere. Everyday was worse than the day before and no one could tell us why. After 60 days in the hospital, she was stable enough to return to our apartment a mile away. This lasted a very short time and she was readmitted three times. Her skin was so bad that we couldn’t keep her central line properly bandaged and in place, a critical piece to her post transplant care. She would itch and claw at her skin constantly. Ripping and tearing it off her body until she would bleed. She spent months sleeping in our arms because she couldn’t be settled any other way. Through all the frustrations we would try to celebrate each day, because surely, it had to get better. After four and a half months we returned home to western North Dakota. Henley’s marrow was now doing the job it was supposed to do, growing blood cells. But had we traded that for a lifelong battle of skin care with a child that now looked like a severe burn victim? Although I was happy to be home, it was during this time that I finally began to feel the effects of not sleeping for more than two hours at a time, for nearly 16 months. My body and mind were nearly broken, but we battled on. The key to our survival through this battle was our faith and identifying and celebrating the smallest of joys each day. Some days that was a fancy cup of coffee from across the street, some days it was 20 minutes on the playground with my twins and other days it was just five minutes in the sun, breathing something other than hospital air. When all of Henley’s post transplant medications finally ended in December 2018, we finally began to see improvements in her skin. Now, nearly two years post transplant it is absolutely a miracle to watch her. No one would ever know the battle Henley has fought by just looking at her. Our journey would not have been possible without the love and support we received from friends and family and especially God. I have often wished I could articulate why I was drawn closer to God through this battle and why others push him away when they are faced with a struggle. The only answer I can conclude, is that I refused to let our pain define our lives. I needed it to mean something and teach us something and I will always choose to give praise for our battle, for the lessons and for the life we have today.

"Ryker has been such a strong little man throughout these past couple of years with going through so many tests, procedures and doctor visits." His mom Brooke shares with admiration. Read this US family's story, here. Ryker has been such a strong little man throughout these past couple of years with going through so many tests, procedures and doctor visits. No way can I describe it all... but Ryker has always had slow weight and height gain. He stopped eating at 10 months old, got an NG tube and then later a G-tube, and is now completely tube fed. He also has to have an enzyme before each feeding to help his pancreas absorb more fat. Ryker’s blood work then started showing us some bad signs and he began to bruise easily and get petechiae. For the longest time, we didn’t have an answer. Well, we finally had a whole exome genetic test done where we received a diagnosis at the end of January 2021: Shwachman-Diamond Syndrome. As it is a lot to understand, it’s been a lot for me and for all of Ryker’s family to take in. After Ryker’s bone marrow biopsy came back following his diagnosis, we have learned that Ryker needs to have a bone marrow transplant as his bone marrow biopsy showed that he is on the verge of leukemia. Beginning today, April 19th, Ryker will have a whole week or so of evaluations at the hospital, will go through chemotherapy, then the bone marrow transplant will take place. We are doing this all at Cincinnati Children’s Hospital. Ryker will be in Cincinnati for 4-6 months as he needs to stay in Cincinnati until he builds up his new immune system. After Ryker’s bone marrow biopsy came back following his diagnosis, we have learned that Ryker needs to have a bone marrow transplant as his bone marrow biopsy showed that he is on the verge of leukemia. The diagnosis and news of him needing a bone marrow transplant has hit our family very hard and quickly. The timing is also such that Ryker starts his procedure as his baby sister was due the 17th. Because of just delivering Ryker’s baby sister, I cannot be with Ryker in Cincinnati until I’m all healed up from birth and labor. It’s been breaking my heart, but I will be switching out with Ryker’s dad on May 22nd to be there for Ryker throughout the rest of the process. I cannot wait to be by Ryker’s side, but he really is such a strong little man. [Editorial comment: If you wish to support this family directly, they have created a GoFundMe page. It's not affiliated with the SDS Alliance.]

"My son has taught me so much and through him I have grown as a person in stature, confidence and emotional stability. I have seen the courage of SDS children, adults and their families at times of great pain and sadness. I have witnessed and been shown so much love, kindness and support that any early feelings of bitterness or regret have been replaced with gratitude and wonderment at the generosity of the human spirit." Harrison's mom Kim shares full of love. Read this UK family's story, here. A sincere thank you to SDS Alliance for initiating the Global SDS Awareness Week - raising awareness in all ways and by every means possible, will help improve health care for SDS patients and save lives. My beloved son, Harrison, has SDS and is autistic and will soon turn 26 years of age. Our journey may have similarities to other families who discover their child has a rare, potentially life threatening, genetic disorder. Many of you, like me, will have experienced a depth and range of emotions that I didn’t know existed. Many of you, like me, will have experienced a depth and range of emotions that I didn’t know existed. -- says Kim, Harrison's mother Harrison was born by emergency caesarean birth on 20th May 1995. His arrival was eagerly awaited by his doting and already besotted Dad and nervously anticipated by his ageing, 3 stone overweight Mum! Nothing could have prepared my husband and I for what was to follow and ignorance in our case truly was bliss. Initial poor feeding, continual poor sleeping, never ending infections and hospital admissions, countless bowel movements, slow development, poor growth and weight gain, early eyesight and hearing problems, skin rashes … and so it went on. The toll those early years placed on my marriage and my relationship with my eldest son has taken many years to repair. Harrison was diagnosed with SDS at 20 months old. Shwachman Syndrome what? Little knowledge, even less information, only countless unanswered questions. We were simply told that Harrison would be small and need enzymes to help digest his food and the never-forgotten words ‘with Shwachman Syndrome, what you see is what you get.’ I don’t think so! No mention of the haematological side of the syndrome, nor its many other facets, was made to us or Harrison’s primary healthcare providers. Hence, when we kept returning to the GP or local hospital with our concerns and worries as Harrison developed yet another infection or worrying symptom, we were largely ignored and considered over-anxious parents. This exercise is not to lay blame or criticise, but to show how our suffering could have been reduced through awareness by healthcare providers of a then available Directory of Specific Conditions and Rare Disorders published by Contact a Family that lay within each and every hospital. This directory contained information on over 1000 conditions and helped put people in contact with others who had been through the same experience. Had we been told about this directory when Harrison was first diagnosed, we could have been spared the countless hours spent visiting libraries, book shops and not easily accessible internet sites to find information on the syndrome. My family could have been spared some of the anguish, torment and heartache. The discovery that your child has a life threatening illness can only be described as devastating. Like a ripple on a pond its impact spreads far and wide. To have contact with other families and to receive information on the syndrome allowed me to channel my worry and fears into positive actions. The years have passed and Harrison is now an adult and attached at the end of ‘our journey thus far’ is a piece written by him for the SDS UK newsletter. Harrison’s adolescent and early adult years brought with them a very different set of problems to those encountered in his childhood. Their impact however have had the most devastating effect on Harrison’s quality of life. He was not diagnosed with autism until he was 24 years of age. Neurodevelopmental and psychological issues were little reported on, monitored or supported - yet I feel these, based upon ours and other families experience, should be one of the priorities in SDS care from day one following diagnosis. To quote a patient advocate for Cystic Fibrosis, ‘in CF we have certainly found that psychological and emotional wellbeing is so crucial in providing a platform for the more physical aspects of health (at the patient and family level.’ I desperately want to raise awareness of the need for support for SDS adult patients, along with the need for and benefit of SDS adult clinics. For the families whose children are currently under paediatric care and able to guide and act on their behalf, please do prepare and plan ahead to ensure your child’s care and support network will follow through to the next stage of their journey into adulthood. Neurodevelopmental and psychological issues were little reported on, monitored or supported - yet I feel these, based upon ours and other families experience, should be one of the priorities in SDS care from day one following diagnosis. -- Kim concludes My son has taught me so much and through him I have grown as a person in stature, confidence and emotional stability. I have seen the courage of SDS children, adults and their families at times of great pain and sadness. I have witnessed and been shown so much love, kindness and support that any early feelings of bitterness or regret have been replaced with gratitude and wonderment at the generosity of the human spirit. SDS is a small, but very special community filled with people, and dedicated medical specialists & researchers, determined to make the world a better place for SDS sufferers. Reach out when you struggle or feel frightened, look out for information on the disorder and support, help out wherever or whenever you can, shout out when you are not being heard or need help. To quote from a song’s lyrics – ‘Don’t give up, because you have friends … don’t give up, you’re not the only one.’ To the very many people who have reached out, helped and supported Harrison and his family unit along the path of our SDS journey - I thank you, with all my heart. Harrison's own words Hello my name is Harrison. I'm 25 and yep you guessed it I have SDS. I have a variety of different names H, Haz, Hazzer etc haha. like S. [another adult SDS patient] I was diagnosed when I was 18 months. Having this condition is not pleasant at all but its not going to go away either so we just have to live with it and deal with it the best we can with the help of our families and amazing doctors. Like with P. [another adult SDS patient] sport was my way of dealing with the world where I could go to a happy place in particular football and when I was told I couldn’t play as much as others I was very confused because I had no idea what it was and what the symptoms were. Now though I understand why but I didn’t know why I was taking these tablets or why does my mind and body work in a different way to others I just went with it didn’t ask any questions now looking back I wish I did. School was a struggle not so much Primary but secondary school. I didn’t come out with the GCSE’s that S. did because no matter how many times I revised the information just wasn’t going in and that was a real struggle and annoying as well. I also got bullied at secondary school because of this. Why am I so short and why I needed to go to the toilet every 10 minutes or so and I really didn’t know so. They made stuff up and it spread like a virus. Speaking of viruses I am writing this during covid times and lockdown was really hard because not only do I have SDS I'm also autistic and have depression and anxiety and not seeing my friends and family was hard. I had some negative thoughts during that time. That’s my story anyway and I hope you have learned something that you the SDS patient or a parent of a SDS patient can take something away from this. Stay safe everyone!

"My journey to diagnosis has been nothing short of an adventure, filled with many obstacles, hundreds of specialists, and much frustration... Though the road has been rocky, it has revealed my strength and shown me the power of the love and support of my family" Whitner shares. Read her story from the US, here. My journey to diagnosis has been nothing short of an adventure, filled with many obstacles, hundreds of specialists, and much frustration. Despite being born with cataracts and always being on the smaller side, I had a very normal healthy childhood. I had a very normal healthy childhood. -- Whitner recalls I graduated college in 2014 and soon became a special education teacher. When I was 22 I started experiencing Gastrointestinal (GI) symptoms such as nausea/vomiting, weight loss, and irregular bowel movements. Doctors attributed it to anxiety, but I knew it was more than that. The GI doctor suspected Celiac Disease and I later had an endoscopy and was told it was consistent with Celiac and to stick to a gluten free diet. After eliminating gluten, the symptoms persisted and worsened. As an avid runner, I was soon unable run without nausea/vomiting and extreme fatigue. I saw countless GI doctors who could not explain my issues. The fatigue grew to such lengths that it impacted my ability to teach, so my parents suggested taking a break and moving back in with them. In the meantime, while visiting my primary care doctor for a left sided abdominal pain that wouldn’t seem to go away it was soon discovered I had severe hydronephrosis due to a UPJ obstruction (something I was born with) and would require surgery to correct. Also, discovered I had kidney stones which attributed to the pain. As an avid runner, I was soon unable run without nausea/vomiting and extreme fatigue After having the pyeloplasty surgery was when my body’s affinity for infection began. I developed countless UTI’s which soon turned to kidney infections requiring hospitalization. My body soon grew resistant to common oral antibiotics used to treat UTI’s requiring hospitalization as well. My PCP indicated my problems were a bit more advanced for my small town in SC and suggested going to a research hospital such as Mayo. My parents and I made the 6 hour drive to the Mayo Clinic in Jacksonville FL hopeful for answers to link the pieces together. My PCP indicated my problems were a bit more advanced for my small town... In my initial H&P the physician’s first response was I believe all your problems might be caused by an underlying genetic condition and referred me to the genetics department. The genetics doctor was immediately intrigued by my case and also suspected a genetic component at play so ordered to have my exome sequenced. ...the physician’s first response was I believe all your problems might be caused by an underlying genetic condition What I thought would be a somewhat quick turn around time for results turned into 9 months. In the meantime waiting for results, I found myself in ER feeling extremely fatigued with the underlying feeling something was just not right- and learned my hemoglobin was 6 so received a blood transfusion and later learned I grew positive blood cultures so had a blood infection as well. My hemoglobin dropped backed down to 6.7 two days later- and the trend continued as I received over 30 units of blood in a 2-3 month span. I also went on to develop several other blood infections, MRSA, pneumonia, septic emboli in my lungs, and fungal endocarditis. I was in the hospital more than I was at home over these months, all the while local hematologists and infectious disease doctors could not quite explain why it was occurring. I found myself in ER feeling extremely fatigued with the underlying feeling something was just not right Finally when the genetic results came back, I received a call from the genetic doctor indicating there might be a cause to my problems and suggested we come back to FL ASAP to review results and obtain a further work up. We then learned I had mutations in SBDS gene and was introduced to the possibility of SDS (Shwachman-Diamond Syndrome). When bringing this information home to my local hematologists it was quickly rejected with statements such as “that’s only seen in children” and “you would not make it past 20 if you had that.” We then learned [about the] possibility of SDS (Shwachman-Diamond Syndrome). When bringing this information home to my local hematologists it was quickly rejected with statements such as “that’s only seen in children” and “you would not make it past 20 if you had that.” When I began losing a great deal of weight this past summer I reached out to my genetics doctor and he suspected it was related to SDS and felt I needed to see physician well versed in SDS and referred me to Cincinnati Children’s. We soon made the journey to Cincinnati, and found Dr. Myers and her staff a breath of fresh air as I left feeling confident in the competency and care I was provided- something I realized I had never felt. After many tests and several visits to Cincinnati, Dr. Myers confirmed that she believed I have SDS and much of my GI troubles can be attributed to pancreatic insufficiency. She consulted with my local GI and suggested placing a feeding tube and starting me on Creon [one option for PERT: Pancreatic Enzyme Replacement Therapy]. I needed to see physician well versed in SDS [...]. We soon made the journey to Cincinnati, and found Dr. Myers and her staff a breath of fresh air as I left feeling confident in the competency and care I was provided- something I realized I had never felt. My blood counts are still unstable and require blood transfusions every week or 2 weeks. Due to transfusion dependence I am currently in the process of having a bone marrow transplant at Cincinnati Children’s within the next few months. Though the road has been rocky, it has revealed my strength and shown me the power of the love and support of my family. I find comfort in the ability to connect with other patient’s and parents of patients with SDS and know there is a community rallying behind me for awareness and treatment of Shwachman Diamond Syndrome. I find comfort in the ability to connect with other patient’s and parents of patients with SDS and know there is a community rallying behind me for awareness and treatment of Shwachman Diamond Syndrome.

"The news of her diagnosis was hard to hear, but it was what it was, so my husband and I just decided to be positive." Shares Betty's mom Katie. Read this US family's story, here. [Betty's mom Katie is sharing their SDS story.] I found out I was pregnant with our 5th baby when we were on a family vacation. This was a big surprise but we already had four children, what was one more? My pregnancy was going just fine at first. Then when I was 34 weeks pregnant, we found out the baby was not growing like she should and I was diagnosed with IUGR (intrauterine growth restriction). I had an easy delivery when I was 39 weeks pregnant and she was born weighing 7 pounds 2 ounces. I thought those doctors were so wrong worrying about her size! She went home the next day and appeared as healthy as could be. Betty struggled to gain weight and when she was three months old, the doctor decided to send her for blood work because she was dropping in percentile for her weight and head circumference. Later that afternoon, I received a call from the nurse letting me know that her bloodwork was kind of off and that she was scheduled for an ultrasound and an appointment with the GI doctor the next morning at Nationwide Children's Hospital. The next morning turned into an all day visit from 8-5. The GI doctor sent us for more bloodwork and by the end of the day I found out Betty had low platelets (I didn't even know what platelets were), low hemoglobin, her thyroid was off, her liver numbers were wacky and much more. It was Memorial Day weekend so we were to go back to the hospital on Tuesday. Over the weekend, I got test results through MyChart showing that Betty had pancreatic insufficiency, so I spent a good portion of my weekend googling that. Tuesday morning we saw hematology, endocrinology, genetics, dermatology, and GI. We met with the dietician who told us about enzyme therapy and how to give Betty enzymes before eating. While at Betty's hematology appointment, the doctor mentioned Shwachman Diamond Syndrome. We had bloodwork drawn that day to test for Shwachman Diamond Syndrome (SDS) and were told the results take about three weeks. Almost exactly three weeks later, I got a call from the genetics counselor letting me know that Betty did indeed have Shwachman Diamond Syndrome. Betty was four months old when we got this diagnosis. After hearing the stories of other patients, I realize how lucky we were to get her diagnosis so quickly. We were so lucky to have a Children's Hospital just 20 minutes away with such knowledgeable doctors. The news of her diagnosis was hard to hear, but it was what it was, so my husband and I just decided to be positive. I spent the next several nights reading about SDS, reading the stories of other patients, crying when I read about families losing their child, and praying. It was an emotional time but I decided to be positive, have faith in God's plan, and enjoy life. We were followed closely by GI. In late June, Betty continued to drop off the charts for weight so she was given an ng feeding tube through her nose. I was able to continue breastfeeding her by day and at night she would be given formula through the feeding tube for 12 straight hours. But after ten days of getting her ng feeding tube, she got very sick. On the Fourth of July night, she was miserable, vomiting and was having diarrhea all night long. The next morning her stomach was sunk in so much that her skin looked wrinkled. We took her to hematology and she was dehydrated and admitted. She stayed three nights and then got to go home. Less then a week later, she was admitted again with the same issues and stayed for eight nights. We got to go home once again, but she continued to have diarrhea. Betty was still dehydrated and her blood sugar was dangerously low so she was admitted again, but this time it was for almost four weeks. Betty needed to stop breastfeeding and formula feeds and needed to give her gut rest and time to heal. She was put on TPN (Total Parenteral Nutrition). This is where nutrition is given through the veins. This was such a hard time. Betty felt miserable. I did everything humanly possible to make her feel better. She was finally able to start drinking milk again, but we needed to switch to a bottle so we could see exactly how much she was getting. After not having anything by mouth for a week, she luckily took to the bottle. Betty had a few bad nights of vomiting blood and needed a couple blood transfusions here or there but finally starting gaining weight. The doctors hoped that now that her nutrition was better, that her bone marrow would also improve. Betty came home and started doing much better with her nutrition and gaining weight. I had to feed her every two hours day and night. The doctors hoped that now that her nutrition was better, that her bone marrow would also improve. Betty needed to go for bloodwork often after coming home from the hospital. Around November of 2019, when she was 9 months old, we found out that her ANC (absolute neutrophil count) was close to zero. This meant that Betty's immune system was not working very well and the doctors told us to start staying home so that she wouldn't be around germs. Betty started needing blood transfusions about monthly around this time as well. Then in January of 2019, Betty began needing platelet transfusions weekly. Her platelet count was so low that if she bumped her head or scratched her finger, it was a huge deal. In February, the hematologist said Betty would need a bone marrow transplant. This decision was based off of her bone marrow biopsy as well as her need for weekly transfusions. She had iron overload from all the transfusions and it was time to start discussing a transplant. All of our children and my my husband and myself were tested to see if we were a match for Betty. Our three boys were a perfect match of each other, but not for Betty. Therefore, the doctors looked into the "be the match" registry. We found out that Betty had 1,000 potential matches and from that number, it was narrowed down to four people. Finally we found the best match who happened to be a 21 year old young woman living in the United States. Many children do not have a match, so we felt extremely blessed and thankful for Betty's perfect match. ... the hematologist said Betty would need a bone marrow transplant. This decision was based off of her bone marrow biopsy as well as her need for weekly transfusions. Betty went through the next three months with lots of tests and also a liver biopsy. Her liver numbers were elevated 15 times higher then the norm but this is all related to SDS. The biopsy was to help the doctors know what medication to use during transplant to keep her liver healthy and not cause further damage. In late April of 2019, Betty started chemotherapy and was hospitalized for four nights and then we were able to come home to be with the family for one week. We were lucky to be able to be home for Easter as a family. Then, Betty was admitted for her bone marrow transplant. She went through more chemo treatment and received her new cells on May 16, 2019. Betty's doctors and nurses told me that Betty would begin to feel very fussy, sick, sleep a lot, and would stop eating and would need another ng tube. I was so against the feeding tube due to the discomfort it would cause her and all the problems it caused her in the past so I fought that one. She was supposed to have the ng tube placed on day zero of her transplant but I asked to keep it out and only place it if absolutely necessary. Luckily, we had the best BMT doctor ever who actually listened to my concerns and went along with my plan. My goal was to keep her eating. I worked hard to get her to drink her milk and carnations instant breakfast three times a day. She would drink 3 ounces at each meal and also eat other food. She never needed that feeding tube and she never seemed miserable. I prayed every morning for her to feel good and to eat. I took it day by day and was thankful for each good day. Betty played everyday and was happy every single day. The doctors would joke around asking if the nurses forgot to give her chemo. Betty received her new cells at midnight on May 16th, 2019 when she was 15 months old. There are many risks involved with a bone marrow transplant such as graft vs host disease as well as organ damage. That night I prayed and prayed that her new marrow would help her and not hurt her as she received her new cells. I felt an overwhelming feeling that all was going to be okay as her new cells ran through her central line and I just knew God was with her that night. On Monday, May 27, 2019 Betty was on day +11 which means eleven days after her transplant and it was also her first day of engraftment. She got to go home on May 30th which was day four of engraftment. We were so amazed at how quickly she got to go home and it was way faster then we expected. Betty came home and had a few rough days of random vomiting which was most likely related to her getting used to all of her bone marrow transplant medications she was on. She was overall happy and full of energy. We had some minor issues with her skin that the doctor worried about graft vs. host disease, therefore she stayed on her immune suppressant longer then what is typical. She is now 3 years old and we just celebrated her 2nd re-birthday. She has stayed healthy has not been admitted to the hospital once since she has come home. We feel extremely blessed to have her home everyday and doing so well. [Editorial note: Thank you Katie for sharing your family's story. To learn more about how could potentially save a life through stem cell donation through Be The Match and other organizations, click here].

From the Founder, Dr. Eszter Hars, Ph.D. This week, I had the great honor to be invited as a speaker and panelist to present at the 2021 Rare Drug Development Symposium, hosted by Global Genes and the University of Pennsylvania Orphan Drug Center. In my talk, I raised awareness about Shwachman-Diamond Syndrome and its effect on our patients, highlighted the critical importance of collaboration and patient engagement, and the need for the patient community to coordinate research and therapy development efforts with professionalism, focus, end efficiency — using our new mouse model project as an example. The session was for young researchers to discuss how to make the best out of working with rare diseases communities and ways to collaborate, and concluded with a panel discussion with my co-presenters Bina Shah, MBA; Amy Waldman, M.D., M.S.C.E.; and session moderator Benjamin Forred, Ph.D. All sessions were recorded and are now available on the conference platform to all registered users. The recording will also be made available to the public at the end of summer/early fall on the Global Genes resources. I will continue to advocate for SDS and make SDS an attractive area of research for researchers and biotech companies. To support the SDS Alliance's research and therapy development initiatives - starting with the mouse model project - please donate today and help us fundraise. (For international supporters, we have set up a Facebook fundraiser that doesn't charge credit card fees.)