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Attending the GSF 2017 NGLY1 Conference – Feeling Part of Something Groundbreaking

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By Asger Vigeholmfather of Viktor from Denmark

 

In March, my family received an invitation to attend a conference on NGLY1 deficiency, arranged by Grace Science Foundation. The conference was to be held in Palo Alto in July and would allow us to meet other patients, families, researchers, and clinicians, and furthermore give us an opportunity to provide samples for research.

Upon receiving the invitation my wife and I had only known about our boys’ diagnosis for a year, and to make things worse we were still in grief after losing Bertram to the disease. Therefore, we didn’t know much about NGLY1 deficiency, but we knew that our sons were the only known patients in Scandinavia, and that we couldn’t rely on getting much help from the Danish health care system.

In other words, we knew we had to take the long trip to sunny California.

This was despite the fact that Viktor’s condition prevented us from going anywhere – even to see family or friends. Furthermore, we really didn’t have the financial means to go, but we were determined, and set out preparing the trip and finding a solution to our financial predicament. Through prescriptions, fundraising, generous agreements and a few investments in things to facilitate Viktor, we managed to reach our goal and started focusing on what to expect.

To be honest, our expectations were moderate. Basically, we were just looking forward to meeting the other patients and their families and hopefully getting in touch with some specialists, who would be able to support us in our dialogue with our own health care team in Denmark going forward. Apart from that we just wanted to contribute by giving the samples.

Getting closer to the day of departure, we got increasingly anxious about how Viktor would react to the flight and being surrounded by foreign people speaking foreign languages. As it turned out, he surprised us by taking it all better than anticipated.

So, were our expectations met?

Well, yes and then some more. We were already points ahead upon arriving at the airport where Matt’s mother Barbara welcomed us with warm embraces and kisses on the cheeks, and Matt’s uncle John sat ready to take us to the hotel in an ADA van borrowed from one of Kristen’s friends. An early indication of the level of support at this event.

The next morning, we went to Stanford University to give our samples. Within two hours, Viktor, his big brother Frederik, Henriette and I had all provided blood, urine, and skin biopsy samples (stool and saliva samples were given later). Obviously, we had to do our own part, but the people at Stanford demonstrated an enthusiasm, professionalism, and efficiency that we were not accustomed to. If only Danish Health Care was like that.

The following evening the conference was kicked off with pizza and ice cream for both families and scientists. Among the 36 known patients worldwide, 20 were in attendance along with their parents and siblings. Quite an amazing turnout. Next to us, Danish Vikings, there were families from Hong Kong, Israel, Brazil, Spain, France, Germany, Canada and of course the United States. All incredibly sweet families, who despite the language and cultural barriers were very keen to get to know each other and exchange experiences on how to best help our children.

The conference itself left us enlightened and with a lot of optimism, thus far exceeding our expectations.

The event was initiated and closed by talks from John F. Crowley and Mark Dant – two parents of rare disease children, who managed to save their children from a fatal prognosis by relentlessly searching for treatment, where there was initially none. Like Grace Science Foundation; by taking on a parent driven scientific approach.

Their stories induced hope where little existed, but it did not end there.

Close to 70 researchers, including some of the world’s leading stem cell researchers, geneticists, biochemists, neurologists, AI specialists, etc., were also in attendance. All dedicated to finding more effective treatments and ultimately a cure.

Coming from academic institutions and private companies, they have varying areas of specialties and different approaches. They probably have different motivations and end-goals as to why they have committed themselves, but they ARE committed. That much was clear.

The buzz that could be felt when they were excitedly discussing what can be done, and the care and affection that they showed towards our children gave us an unimaginable amount of hope. They want what is best for our children and they are dedicated.

Now I won’t pretend to have understood everything that was presented by these clever minds – some of it was a bit too complex – but I got a better understanding and the overall message was clear.

The scientists know what NGLY1 is, what it does and what must be achieved. There are various routes to a viable solution. Some aim at better treatment as an interim solution while others aim directly for an actual cure. As a parent, the fact that several promising leads are being pursued was an awesome takeaway from the conference.

Granted, finding a cure may take longer than we would like, and our children may not even get to benefit from it, but I am optimistic that they will.

With a unique collaborative setup driven by tenacious and strong-willed parents and modern technological opportunities, I feel confident that there will be huge progress within the next couple of years.

All in all, it was an incredible event arranged by Grace Science Foundation. No small feat by Matt and Kristen and their army of volunteers.

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