James – Alveolar Rhabdomyosarcoma (ARMS)

Today, we share the story of James, by his mum, Christine. James has been diagnosed with Alveolar Rhabdomyosarcoma, at just 6 years old. They live in New York, USA.

As you will read from Christine, in the USA, as here in the UK, children are continuing to get misdiagnosed initially. And then, when diagnosed, the cancer has, sometimes, already spread to other parts of their bodies. If you have not heard ‘PAX3’ being mentioned before, it is a gene that plays a critical role in the formation of tissues and organs during embryonic development, and is important for maintaining the normal function of certain cells after birth. The ‘HER2’ (human epidermal growth factor receptor 2) gene codes for a receptor on the surface of some cancer cells. Overactivity of the ‘HER2’ gene was identified as a pharmaceutical target for cancer drug development in the 1980s. Although not specific to breast cancer, you may have heard it referred to in this context before.

Our thanks go to Christine for allowing us to share this story, and we send James, Christine, and their whole family, our best wishes in this ongoing battle with this evil disease.

Ziggy & Betty xx

James was diagnosed with Alveolar Rhabdomyosarcoma (stage 4), on July 31, 2017. He was just 6 years old. Initially, he was misdiagnosed by a local hospital. As soon as we got the biopsy results, I called ‘Memorial Sloan Kettering Cancer Center’, because I wanted him to be treated there (we live in New York). They wouldn’t see him without slides and a finalized pathology report. While waiting for the finalized pathology report from the local hospital, he lost the ability to walk. We had our first visit to ‘Sloan’ on August 4, where we were told the grim news.

The first sign my son had was groin pain and then a lump. I thought it was a hernia. It wasn’t. By the time he had that first symptom, it had metastasized and was widespread through his lymph nodes, in his bones, 80% in bone marrow, abdomen and possibly his lung. It had started in his calf. He is positive for the PAX3 fusion gene. Because it is in two channels, lymph nodes and bone marrow, we were told it is one of the most difficult cases to treat. There has only ever been one long term survivor of what James has, and that survivor is considered a miracle. There is no cure! When asked what we could do, we were told to pray. We are treating the disease to make him better and to buy some time, and in the meantime, hoping for a miracle or a medical breakthrough. We can never be sure of the amount of time James has left, but we have been told, the average life expectancy is 3 years, and the maximum is 5-6 years.

We had our first post treatment scans recently. His PET Scan & CT scan showed no evidence of disease. We are waiting on the bone marrow and biopsy results. We were reminded by our oncologist, Dr. Wexler (who is considered “the” rhabdo expert), at our PET Scan results, that the challenge was not getting him to be clear, but keeping him that way. He is expected to relapse.

Here in America, the lack of federal funding that goes to childhood cancer is the biggest tragedy as far as these children are concerned. Childhood cancer is the number one cause of disease related death for children in America, meanwhile, they only get 4% of federal funding for cancer research. Our children are literally dying from this and no one cares.

Since sending this initial story to us, Christine, has now provided us with an update from the bone marrow and biopsy results.

We got the results of James’s initial post treatment scans. While the PET Scan and CT Scan were clear, the MRI showed “residual disease”, and the bone marrow biopsy and aspirate results were “disappointing”. The cancer is still in his bone marrow. They are re-doing all scans in another 3 weeks to see if the marrow clears. We are scheduled to start radiation in addition to the chemo he’s on in January. If his bone marrow isn’t clear, I don’t know what we’ll do. They mentioned an immunotherapy in Texas, but he needed to test positive for the ‘HER2’ gene. He didn’t, so it isn’t an option for us. I’m terrified that this treatment plan may be failing him already. We go today to get him tattooed for radiation and have the mold made that he’ll be placed in for his daily radiation treatments.

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