Seanna’s SMAS Journey

Seanna’s Fight against SMA Syndrome: Her quest for life 2.0

Imagine being in excruciating pain every single time you consume anything thicker than a clear liquid. Pain that feels like someone is stabbing you over and over in the same place. Being doubled over and unable to move. Now imagine that you are only 13. Now meet Seanna Kaitlyn Potgieter.

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Seanna’s Story

Our journey started in January 2022 when Seanna and her brother had a COVID-19 infection. A month later Seanna started experiencing a stabbing pain in her abdomen. I then made an appointment with our family GP and he arranged for her to be admitted into hospital. The Paediatrician on duty did a sonar, X-ray, and some blood and by the end of the weekend sat me down and advised that Seanna was overreacting it’s not normal for her to experience that amount of pain, and that he would do a psychiatric referral. Angry that her condition was not being taken seriously, we went home, and we tried some dietary changes, this included, cutting out dairy, then gluten, then including a prebiotic, then a probiotic. We were regulars at the Health Shop and tried every other over-the-counter remedy known to man.

Frustrated we went back to our GP, and he then suggested another admission, this time under a Rheumatologist to check for any autoimmune conditions. Seanna is unnaturally flexible and hyper-mobile Ehlers Danlos (hEDS) is suspected. We once again left the hospital with no diagnoses and by this time we were treating her pain with a Buscopan Tablet after each meal. At that point, I still remember mentioning to my husband, Nicho that I am dreading the day that Buscopan no longer works.

Fast forward to June 2023, our GP then did a GI referral to an adult Gastroenterologist and Seanna was scheduled for her first of many Colonoscopies and Gastroscopies. At this point, she was diagnosed with Severe Active Gastritis and an active H Pylori infection. We were over the moon that a potential cause was discovered and elated that it’s treatable. I remember Seanna messaging her best friend with lots of joy emojis that a cause had been found. Seanna had her first eradication therapy and started to feel a little better. This joy however was short-lived as the pain returned amplified. The adult GI then would no longer assist and did a referral to a Paediatric Gastroenterologist. The first available appointment was end of September 2023.

Desperate we contacted a few Paed GIs in Gauteng and some were booked to 2024. I contacted the office multiple times, begging for an earlier appointment, but they would not assist. I even contemplated just arriving at the office and demanding they see us. At this point, we were visiting the ER and our GP’s office numerous times for pain infusions, as my fear realised and Buscopan no longer worked. On the 25th of August 2023, desperation hit and we took Seanna to the ER and insisted that we see the Paediatrician on duty and that she gets admitted as at this point, she could no longer eat and we could no longer manage her pain and nausea at home. Multiple studies were performed, and an NG Tube and a NJ Tube were trialled and on the 30th of August Seanna received her official diagnosis.

Seanna has SMA syndrome. SMA Syndrome is a very rare disease only affecting 0.3% of the world’s population. In a nutshell, the third part of her duodenum is being compressed by the Superior Mesenteric artery and the descending Aorta. A surgical plan was derived and on the 11th of September (on my birthday), Seanna had her very first Duodenojenostomy Surgery (DJ Surgery for short). What they do during the surgery is they essentially create a bypass, so food would travel a new way and not via the compression. Seanna woke from surgery and for the first time in almost 2 years, she was pain-free! The best birthday present ever!

3 Weeks later I got a message while at the office. “Mommy, my stabbing pain is back.”. My heart sank…. I reached out to the surgeon’s office and admission was arranged. More tests, another NJ Tube. It was then discovered that the anastomosis closed. A hospital transfer was then arranged to a teaching hospital, under the care of the initial Paediatric GI. Her SMA Syndrome was reconfirmed and revision DJ surgery was scheduled with an adult Gastroenterology Surgeon.

This time however her pain never resolved. As soon as she started eating the stabbing pain returned. We left this teaching hospital with the view that Seanna must find coping mechanisms to deal with the pain. How do you tell a then 12-year-old that she will have to sit with this pain for the rest of her life?? As is, she has already missed out on her school year and any bit of normalness.

Today, we have had many admissions under the belt, some dealing with pain analgesia, some with more investigative studies. Seanna has seen many physicians and psychologists and her only pain relief at the moment is heavy schedule 6 pain medication.

At this point, I need to mention that no one is as determined as a mother who has to see her child in daily agony to find a solution. I became a world-class researcher. My investigative skills became unparalleled. My knowledge today is unmatched. Today, I know Seanna’s surgery failed as the bypass surgery left the compression in place. This leaves food the option of both passing the obstruction and using the DJ bypass and in Seanna’s case, it seems food still travels to the compression site. I also shared her scans with a US diagnostic Radiologist, Dr James Parker. His specialty is compression syndromes and he confirmed that her scans show anatomic findings of SMA Syndrome despite the DJ Surgery.

Through the SMAS Warrior Support Group on Facebook, I found the world’s leading SMA Specialist, Dr Domingo Alvear. He has written many medical articles over the years around SMA Syndrome and has pioneered a procedure called the Alvear Procedure or Duodenal Derotation Surgery. I reached out to him and he is willing to come to South Africa to assist in Seanna’s surgery and teach South African surgeons the Alvear procedure.

You can watch a the full podcast with Dr Domingo Alvear on this procedure on Facebook – click below:

This is where I need everyone’s help.

Please help me raise the funds needed to bring Dr Alvear to South Africa and help fund her medication and therapies. This will not only help Seanna but every other SMA Syndrome patient in our country. No one should go through what we have. Seanna remains optimistic (although some days are incredibly hard) and hopes that her story will help others.

Today she wants to be a paediatric nurse to help others one day. She always thinks of others before herself.

Help me help her. Help us in giving her Life 2.0 back.

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We need to raise  R350,000

This will enable us to get Dr. Alvear to South Africa to perform this life-changing surgery.

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Direct Banking Details:

Seanna Potgieter
Nedbank Cheque
Account No: 1083902881
Reference: Seanna SMAS Fund