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Alex 2_edited.jpg
Alex 2_edited.jpg

Our Story

We are Katie and Martin and our 22 year old son Alex has DLGNT.  


Alex was diagnosed in October 2021 with DLGNT after 12 months of terrible headaches, vomiting, papilledema, seizures and eventually loss of sight in his right eye.

In July 2021 Alex had a brain biopsy but nothing was found in the tissue sample taken. At the end of August 2021 he was diagnosed with hydrocephalus and had a VP shunt put in. Shortly after, in September 2021, Alex had another biopsy, this time on his lower spine. This biopsy led to the diagnosis of DLGNT.










Alex’s oncologist, like many others, had never dealt with a case of DLGNT before, so we started to research this rare cancer. We spoke to professors, doctors and researchers across the world and found a number who had experience of this rare cancer. We learned that before we could progress with any form of treatment we needed to analyse the molecular make up of the tumours in Alex's brain and spine. The problem was that there was not enough tissue from the spinal biopsy to do further molecular analysis and the surgeons did not want to do another biopsy of the spine as it was considered very dangerous.

In November 2021 a further MRI scan showed that the cancer was spreading quickly and the surgeons were able to do another biopsy of the brain. At the same time Memorial Sloan Kettering Cancer Centre carried out a Liquid CSF biopsy.  Both the tissue from the surgical biopsy and the CSF from the liquid biopsy were analysed and the conclusion was that Alex was found to have a BRAF-KIAA1549 fusion with a 1p deletion and a 1q gain (MC-2).

The doctors we had consulted in several hospitals (Toronto Sick Kids, Heidelberg, GOSH etc) agreed that the best course of action was to put Alex on the targeted chemotherapy drug Trametinib (trade name Mekinist & Meqsel both by Novartis). Trametinib is a MEK inhibitor drug with anti-cancer activity which inhibits MEK1 and MEK2. 

Alex started the drug in December 2021 and it had an immediate effect with subsequent MRI scans showing a regression of the tumours in both the brain and spine. He had some problems with his skin but these were managed by a dermatologist and the use of some antibiotics. In the summer of 2022 Alex started to have seizures and it has taken nearly a year of trying different medication to keep them under control.


In March/April 2023 the MRI scans started to show signs of tumour progression again and we knew that we had to find another treatment to halt the progression. It was agreed that the drug Tovorafenib would be the best course of treatment for Alex but it was only available in the USA or via a clinical trial in Barcelona. We made all the arrangements to start the clinical trial in Barcelona and travelled to Spain in May 2023.  Unfortunately, after a week of tests at the trial centre we were told that the clinical trial was still not ready to receive patients as one of the drugs being tested had not yet been approved for trial in Europe. It was a disaster as we had taken Alex off Trametinib to conform with the clinical trial's wash off period and his health had started to deteriorate rapidly. 


We flew back to the UK and put Alex was back on Trametinib and steroids which stopped the vomiting and headaches that he had been experiencing in Barcelona. However, over the course of the next few weeks he completely lost his short term memory as the tumours were growing around the brain stem. In desperation we searched for other ways to access the trial drug Tovorafenib. Our only remaining options were a clinical trial in Toronto which would mean flying to Canada for a week each month or an Expanded Access Programme in the USA which would also require travel to the USA each month.


Eventually, after 8 weeks of unrelenting perseverance, we managed to get Tovorafenib prescribed for Alex on compassionate grounds in the UK. Tovorafenib is sent from the USA for us to collect from Charing Cross Hospital in London every month and DayOne Biopharmaceuticals provide access to the drug on this basis free of charge for as long as Alex needs it. Alex has responded really well to Tovorafenib and the latest MRI scan shows a dramatic reduction in the tumours in his brain after only 6 weeks. His short term memory has returned and so far, the only side effect he is experiencing is that his hair is turning white. 

At the time of diagnosis we felt completely lost as a family. We did not know who to turn to, who to believe and we were terrified at the dawning realisation that there is no cure for this rare form of cancer. We didn’t know anyone else with DLGNT and felt very alone.  Since then we have set up this website and have built an international community of over 40 DLGNT patients on the DLGNT Facebook page.  We are actively campaigning for more research into brain cancers globally. By working to help find new treatments for DLGNT we are hoping that other families and patients can take some comfort knowing that they are not alone and that there is hope.

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