Family seeks help with daughter’s rare syndrome

It’s normal for any other parent to want what’s best for their children. The Potgieter family in Fourways is no exception. They are currently facing a challenging situation and are in desperate need of support. Their daughter, Seanna, needs funds to get a second chance at a normal life through surgery.

It is said that it takes a village to raise a child, and in this case, the Potgieter family could certainly use the help of their village.

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Seanna experiences unbearable discomfort every time she ingests anything that has a thicker consistency than clear liquids. The pain she feels is intense and persistent, making it difficult for her to consume even the most basic foods and liquids.

The 13-year-old began to experience severe abdominal pain, a month after testing positive for Covid-19.

According to Nadia, Seanna’s mother, they were left with a distressing health issue that has caused them to make frequent visits to the hospital in search of answers. Seanna has also been losing weight, which has only served to heighten their concerns as a family.

“For over two years, we were in and out of doctors’ rooms and hospitals trying to find the cause of her agony until last year August 30. We were relieved when we were finally told that Seanna had been diagnosed with superior mesenteric artery (SMA) syndrome. It was a sigh of relief because at least we knew what we were dealing with instead of being completely in the dark.”

Superior mesenteric artery (SMA) syndrome is an uncommon medical condition that occurs when the third part of the duodenum becomes compressed between the abdominal aorta and the superior mesenteric artery.

This compression can cause a range of symptoms such as nausea, vomiting, abdominal pain, and weight loss. It is a challenging disorder to diagnose and manage, and its treatment usually involves a multidisciplinary approach to address the underlying cause of the obstruction.

Seanna has a partial obstruction which means that food takes much longer to reach her digestive system and the SMA and aorta are in essence strangling her small intestine, said Nadia.

Only 0.3% of people in the world are diagnosed with this condition and her sub-condition which is congenital SMA syndrome is even more rare, she added.

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The teen had two surgeries – one in September and the other in October – but they have not alleviated her symptoms and pain.

But through perseverance and loads of research the family was able to find an American group chat called SMA Syndrome Warrior and was connected to the world’s most foremost SMA syndrome specialist, Dr Domingo Alvear.

She said the doctor has written many medical articles and has pioneered a surgery called duodenal derotation surgery and/or the Alvear method.

“Dr Domingo has agreed to come to South Africa to assist Seanna with her revision surgery but also teach his method to South African surgeons which means every potential SMAS diagnosed South African will have access to this surgery which has the highest success rate among all other procedures. This procedure removes the duodenum completely out of compression and has an almost 100% success rate. This is where I need everyone’s help. Please help me raise the funds needed to bring Dr Alvear to South Africa.

“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 she hopes that her story will help others. She always thinks of others before herself. We need help to raise R300 000 that includes his accommodation, transportation, and some funds to donate to his non-profit organisation.”

Nadia said the gold standard of surgery in South Africa is called duodenojenostomy surgery (DJ surgery). She said this is when a bypass is created to join the second part of the duodenum to the jejunum. However, the compression is left in place.

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