The above is an interview of me with the executive director of the Dup15q Alliance on the 5th Big Give Fundraising event to raise funds for the LADDER (Linking Angelman and Dup15q Data for Expanded Research ) project, which is a stored database of Dup15q individuals that helps scientists and pharmaceutical companies access information for drug development and research. The greater the depth of information stored in the LADDER database, the easier it is for potential researchers to tap into and become interested in pursuing Dup15q Syndrome as a research project or a marketable candidate for drug development.
We need answers. I remember the excitement I had when I got an answer for one of Lucas behaviors. There was a Japanese research group who were successful with carrying out behavior experiments with Dup15q transgenic mice and in one setting, the mice were placed in a maze and their behaviors recorded. The mice did not roam around the maze to look for food or stimulation but rather stayed clustered to one corner of the maze. The researchers concluded that the mice hesitated to explore due to high anxiety. Lucas behaves exactly like these transgenic mice when placed in a large indoor playground, I'd pay an admission fee for him to explore the whole area with swings, slides, jumpers but he would only stay within a mere 8'x8' area and seem perfectly content to just walk within its perimeter. I always wondered why he never explored further but the research paper concludes it is due to high anxiety. I would agree that the anxiety comes from not being able to decipher his environment properly. In fact, I would also add to the scientists conclusion that poor vision or a poor visual processing ability adds to the anxiety. If I were blind or see the world as a jumbled kaleidoscope of colors and shapes, I'd be hesitant to walk around myself.
I am realizing, as I alluded to in my interview, that the knowledge and treatment strategies Lucas and our family get privy to is all thanks to the work that was done before we even arrived on the Dup15q scene by families that never gave up and pursued answers to some of the mysteries surrounding the syndrome. What families do today will help people that join in the future perhaps even more so than us right now. I am so grateful and feel fortunate that one, we have a diagnosis. There are many people in the rare disease community who don't even have that! It can be a very frustrating and scary place to be in the unknown. I remember a 34 year old intellectually disabled lady at church who still does not have a diagnosis even after genetic screenings. Secondly, I am grateful for the Alliance. The Give Big Fundraiser prefaced their event with the quote that this syndrome doesn't come with a manual but only with a family that never gives up. But for me, the Alliance has been my manual with answers to any questions I have be it seizures, therapies, drugs, special needs laws. etc... It is a go-to first line of reference I use for any questions I have and if I want to explore a topic further, I venture into the University of Google to take a deeper dive into it.
There are so many questions yet to be answered. Why do some individuals suffer severe seizures and other not? Why do some experience severe behavior and anxiety issues while others don't? Aside from the same duplicated region of the chromosome, do epigenetic factors play a more crucial role in determining the severity of symptoms? The urgency of deeper research can't be minimized because individuals and families are suffering and some are even dying.
I am reminded of the Pulitzer Price winning author, Pearl S. Buck's daughter who suffered intellectual disability due to a metabolic condition called PKU. She had a genetic condition which disabled the metabolism of one amino acid, phenylalaine, leading her to live her days in a care home for the rest of her life. Pearl S. Buck once admitted in an interview that the motive for writing The Good Earth was so that she could insure funds for the care of her intellectually disabled daughter after her own passing. She accomlished that and so much more by becoming a world renowned author and ensuring her daughter was well taken care of (into her seventies!) in a group home. After her daughter's death, scientists discovered that by eliminating one amino acid from the diet, the syndrome was cured. Today, the condition is 100% curable by diet modification. How wonderful would it be if Dup15q Syndrome was so easily cured! Who knows? It may be cured by adding one supplement or eliminating one metabolic factor! These are among many hypothesis and experiments that need to be explored. With this in mind, the Lucas T. Ahn Family Scholarship aims to inspire budding young scientists to get a taste of a research milieu in hopes they will consider working to better elucidate Dup15q Syndrome as their profession. Who knows? Maybe they will be the future scientific advisory board members for the Alliance. Currently, there is a handful of advisors but imagine what 50, 60 or even 100 scientific advisory board members would look like! 100 researchers all working to solve the riddle of Dup15q Syndrome! That would be super exciting!
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