Down syndrome from a father's perspective.

Down syndrome research update from a dad’s perspective.

Ever since Treyton was born and diagnosed with Trisomy 21 I have had a difficult time with the idea of treatment for Down syndrome. I think my struggle stems from the fact that in my mind I cannot separate Down syndrome from my son. This began right there in the delivery room when I was handed an amazing gift from God that we named Treyton. I was told that Treyton was born with the extra copy of the 21st-chromosome which causes Down syndrome. In my mind it was a package deal; it was just a fact. It was no different from the doctors telling me the gender of the child – they were describing one aspect or characteristic of this miracle. I fell in love with everything about that little man right then and there. I love who he is and don’t have a need to change him.

DSAIA webinar.

dsai-webinar-laptop

On October 16 the Down Syndrome Affiliates In Action (DSAIA) offered a webinar entitled “The Research Landscape: Update on DS cognition research & ongoing clinical trials.” I decided to take part in the online seminar not because I thought it would be something fun to learn about but out of a sense of responsibility. I attended a similar webinar last year and anticipated that it would be well done but I am not a scientific person by nature so at times it seemed a bit over my head.

The presenter for the webinar was Dr. Michael Harpold; he is the Chief Scientific Officer & Chair, Scientific Advisory Board of the Down Syndrome Research and Treatment Foundation (DSRTF). What I really appreciated about Dr. Harpold’s approach was that he began by laying out the mission that drives everything the DSRTF does. It helped to put a few things in perspective for me. Dr. Harpold stated the mission for the DSRTF as this:

To stimulate biomedical research that will accelerate development of treatments to significantly improve cognition, including memory, learning and speech, for children and adults with Down syndrome.

He went further to say that the research conducted and or supported by the DSRTF was about:

Creating New Opportunities for All Individuals with Down syndrome

  • To lead more independent lives
  • To participate more successfully in schools & employment
  • To prevent additional early cognitive decline with aging & Alzheimer’s disease

Something clicked for me when I heard this. If you are interested you can watch a recorded version of the webinar by clicking on the image of the laptop computer above.

The light came on.

Sitting in my office with the door closed and the phone set on “Do Not Disturb” I listened to what the doctor had to say and tried to take notes. There was some stuff that I let slide by but Dr. Harpold was telling us about a lot of interesting things taking place in the world of Down syndrome research. But something else happened to me. I started to see that the research being discussed was not about changing who Treyton was but about helping him be a truer form of Treyton. I began to feel like my love for the person that Treyton is may have a dark-side to it.

I am committed to giving Trey every opportunity to learn and develop. However, by being resistant to the idea of treatment for Down syndrome I was holding him back. It is not that he had missed any developmental opportunities but more of a theoretical thing. The research was looking for ways to help Treyton’s memory, health, speech, sleep, etc. These are all things I want to help him with anyway!

An overview.

If I only had time to pass along one piece of information from the webinar it would be that Down syndrome research is terribly under-funded compared to other issues. The chart on the right (click on it to make it bigger) was created using the funding data from the National Institute of Health (NIH) and then dividing that amount by the total number of people affected by the issue in the United States. For example, according to the NIH, there was $20,000,000 given to research Down syndrome in 2012. If you divide that amount by the 400,000 individuals living with Trisomy 21 in the United States you see that it works out to $50 per person.

If you look at the list of research areas funded by the NIH you will see that it is a pretty extensive list. I think I counted 239 different topics listed from Acute Respiratory Distress Syndrome to youth violence prevention. It is not about Down syndrome being more important than Autism or anything crazy like that it is about the disproportionate allocation of funds. I have to think that this is a case of “the squeaky wheel gets the oil.” I also wonder if this is an indication of the level of apathy society feels toward our loved ones living with Down syndrome. That pisses me off but I may be part of the problem – I need to ask myself if I am doing everything I can to raise awareness.

Dr. Harpold spent some time explaining how a treatment/drug became available on the market, it involves a 20-year pipeline which I could not believe but there are a lot of steps involved and each has potential areas of trouble that can slow the process down even more. However, the bright side is that today there is more and more research being done on later parts of the pipeline as opposed to a few years ago when all of the funding was focused on the earliest forms of discovery and research.

The discussion helped me to get a better understanding of the connection between Down syndrome and Alzheimer’s disease. I was aware that individuals with T21 were at risk for early onset Alzheimer’s but there is more and research is making connections that may benefit both groups of individuals. Research is also providing a better understanding into the impact the different parts of the brain have on a person with Down syndrome. It is showing that changing these memory systems can help individuals create more associations between concepts, maintain better attention to tasks as well as juggle more than one concept or task at a time. Changing the memory systems can help with binding information which leads to using the information in multiple situations resulting in more adaptive behavior.

Summary.

If you are still asking the question, “Why spend money on cognition research for people with Down syndrome?” here is a list of reasons presented during the webinar. This is not a complete list and it is not in any specific order.

  • The neurological manifestations of Down syndrome are disabling
  • The findings can benefit both the young and the old
  • The cognitive issues persist throughout the person’s entire life
  • It will help fight early onset Alzheimer’s disease
  • It can help with sleep issues
  • It can help with speech
  • It can lead to better strategies for early intervention and education
  • It can help individuals to realize their true potential

Lastly, there is one statement that Dr. Harpold made that I think provides the best argument for advancing research for Down syndrome.

If we don’t try, we won’t know what could be.