Whitner's SDS Story and Journey to Bone Marrow Transplant

"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.