Since he turned 14, Jasper Smit of the Netherlands has been searching for patients like him. This is very difficult because Carney’s Triad is an extremely rare syndrome. Worldwide there are about 30 known patients with a ‘complete’ Carney’s Triad (GISTs, pulmonary chondromas, paragangliomas). Incomplete Carney’s Triad affects less than 100 patients in the world. This means that they have two of the three types of tumor (mostly GISTs and pulmonary chondromas). In his own words, here is Jasper’s story.

In 2004, when I was nearly 14 years of age, an X-ray of my lungs revealed two lesions in the left lower lobe. The Twenteborg Hospital at Almelo told me that it was nothing serious. We were sent home with the advice to wait for a few months and then come back to have a new X-ray made. My parents thought this was a bad idea, and insisted on a second opinion in an academic hospital. Thus, we went to a pulmonologist at the Wilhelmina Children’s Hospital (WKZ) at Utrecht. Pulmonologist Dr. Bert Arets of the WKZ also considered it not a good thing to wait several months to make a new X-ray. In consultation with this doctor, it was decided to do a CT-scan under general anaesthetic, and to perform a biopsy at the same time to examine the lesions. Executing this CT-scan, the radiologist suggested that it would be wise to do not only the lung scan, but my whole body, and so they did. During this whole body scan, they saw a tumor of approximately 10 cm in my stomach.

In September 2004, a biopsy was taken of the tumor in my stomach. A few days later, on September 23, 2004, the day that the famous Dutch tear-jerking singer, André Hazes, deceased, we received the results of the biopsies. It proved indisputable that the tumor in my stomach was a Gastrointestinal Stromal Tumor. They explained briefly what GIST cancer is, and that it was never discovered in a child in The Netherlands till then. At the Academic Medical Centre (UMC) at Utrecht, of which the WKZ is part of, they had no experience with GIST in children. The advice was to go for treatment to the Emma Children’s Hospital (part of Academic Medical Centre, AMC, at Amsterdam).

A week later, I was admitted to the Emma Children’s Hospital. There they first performed a keyhole surgery (an endoscopy), to inspect what the tumor in my stomach looked like. They also had taken a piece of tissue from the tumor, and sent it to the laboratory.

My doctors, Dr. Arnauld Verschuur (pediatric oncologist), and Dr. Daniël Aronson (pediatric surgeon), explained the treatment plan to us. Initially, a stomach operation would be performed in order to remove the primary tumor. After rehabilitation, part of my left lung, in which the lesions were situated, would be removed. At first, the doctors were assuming that the whole stomach had to be taken out. During the operation (on October 28, 2004) it appeared that about 70 percent of my stomach had to be removed. This piece was the lower part of my stomach, and they also took away a piece of intestine. The tumor indeed had a diameter of 10 cm.

A fortnight later, being well-recovered from the stomach surgery, the lung surgery was performed. During this operation the lower lobe of my left lung was removed. At a MIBG-scan and a PETscan it appeared that GIST cells had spread (metastasized) to my liver, about 20 spots. Also there was a paraganglioma behind the breastbone (stable disease, with one hotspot in the aortic arch with non-elevated catecholamine).

In order to treat the GIST metastases in my liver, I have taken imatinib, from 2004 to 2006. Because of imatinib my situation is stable since 2004. Dr. Verschuur characterized my situation as a Carney’s Triad, an extremely rare syndrome.

When I reached the age of 18, I could no longer be examined at the department of Pediatric Oncology at the Emma Children’s Hospital at Amsterdam. It also happened that Dr. Arnauld Verschuur moved to France, to start working in a children’s hospital at Marseille. I then decided to consult Dr. Winette van der Graaf in the future, at the University Medical Centre St. Radboud (UMC St. Radboud) at Nijmegen. At first, I had to go for a MRI-scan every four months, but now, this is every six months! The results are very positive each time till now, and I am, despite many side effects, confident about my future.

Read – How Jasper and I Worked Together by Ellen van Arem de Haas