We’re reprinting this interview with Paul Cannon, Ph.D, about treatment for his Parkinson’s as well as updates on 23andMe’s research, that was put together by Tomorrow Edition blogger Benjamin Stecher.
Paul, who took the helm of 23andMe’s research community in 2014, shared with Ben decision to undergo surgery for Deep Brain Stimulation, as a way to treat his Parkinson’s symptoms. Below is an excerpt from the interview, or see the full article here.
You very recently underwent Deep Brain Stimulation (DBS) surgery, how did you come to that decision?
So obviously it is not a decision to be made lightly, it is brain surgery. I have always had a good response to Sinemet (the primary drug used for the treatment of Parkinson’s disease), but in the last year or so I had been having more severe fluctuations in my response to the drug. That was what essentially moved me towards going through with DBS. I made the decision earlier this year and scheduled the procedure for the summer when the chances of getting a cold or an infection that might interrupt the procedure were diminished. I had the surgery just over three weeks ago.
What were some of your biggest reservations that went into that decision?
Well it is a fairly invasive and long procedure. I was awake for parts of it, which is an interesting experience. Also I’m very interested in the closed-loop technology that is being developed for DBS, hopefully the equipment that I got could be adapted to that later. The stimulator itself can be changed, but the electrodes you probably get for life.
Was there any hesitancy around the fact that many clinical trials list DBS as one of their exclusion criteria?
That is fairly common, but most disease modifying trials mainly target earlier stage patients. I was diagnosed seven and a half years ago and was symptomatic a good number of years before that, so I would probably be ineligible for many of them anyway.
What was the day of the surgery itself like?
The day before the surgery I had my head shaved and they put five screws into my head followed by a CT scan to help position the brain when I was in the operating theater. The next morning I went in for the first procedure to implant the electrodes. I was awake when they put the electrodes into the brain and they listen to the activity of your brain as an indication that they are in the right region. Then they apply a number of stimuli via the electrode and test for impact on motor symptoms (I was off PD medication) as well as speech. They did one side and then the other. I went home the next day with the wires implanted but without the stimulator and battery put in, that was done the following week and was a straight-forward outpatient surgery. I am getting the device turned on and programmed for the first time this week, some 5 weeks after the initial surgery. The reason for the delay between the two is that there is a micro-lesion effect where actually having the surgery itself improves the symptoms. Over time that wears off. I am now back to my regular medication.
What is it like to be awake while somebody is fiddling around inside your brain?
It is a little disconcerting I must say, more stressful than I anticipated. The operating staff were great and helped me manage anxiety. They put you to sleep at first and then wake you up once the electrodes are ready to be inserted. I did hear and feel suction at the back of my head, I also had a headache that came up during the procedure. Otherwise it is just lying on your back trying not to think about what is going on behind you. You then go through a simple set of tests as they turn on the stimulation. It takes a couple of hours to do both sides. They then put you back to sleep, sew you up and you wake up a couple hours later.
Was there anything surprising or unexpected about the surgery?
I felt pretty good the next day. Though the surgery was tough, once I was in recovery there was very little pain associated with it and very few side effects from it.
One other thing I would stress is from some of the data that has come in recently. DBS used to be reserved more for people in an advanced state. But we are seeing it being done more in younger people and at an earlier state because when you are younger you are more able to withstand the surgical procedure and the associated stress. There is data that indicates that there is more benefit to having it done earlier and is more cost-effective.
Moving into your day job, could you give a little background about 23andMe’s involvement with Parkinson’s disease?
23andMe is a direct to consumer genetics company with a long standing interest in PD. The PD community project was launched over nine years ago. We have been working closely with The Michael J. Fox Foundation and others to build up a sizeable genotyped and broadly phenotyped cohort of people with self-reported PD. Some of the more interesting data in that cohort comes from the self-reported information that has not traditionally been directly associated with PD.
What have been some of the most surprising findings that have emerged from your time at 23andMe?
It is less the data and more just the engagement of people with the research process. A high percentage of people have been regularly engaged with what we do, especially in the disease cohorts. It has been impressive, inspiring and humbling at the same time. Without them, it would be much more difficult for us to look at how genetics, along with environmental data, can inform disease risk, progression and response to medication.
What can you tell us about 23andMe’s recent partnership with GlaxoSmithKline?
It covers a lot of disease areas to try and identify targets and treatments. In Parkinson’s specifically we are developing a joint program in the LRRK2 inhibitor area. It is very exciting because it brings both of our expertise together to learn from each other and develop better treatments.
What excites you most about the future of genetic research in PD?
I think study of PD genetics can lead us to a better understanding of the molecular underpinnings of this disease as well as the variability in presentation, progression and medication response. The question is how best to use that to inform new targets and predict individual treatment responses. We aren’t as interested in telling people if they are fast or slow progressors, what we want focus on now is can we help doctors decide which treatment regime is best for each individual. This will only become more important when truly disease modifying medications become available.
Could you talk about a paper you authored that was just released looking at combining genetic data with self-reported data?
It was a collaboration with Pfizer looking at people with specific genetic mutations and asking whether they differ in terms of self-reported phenotype data. The lack of objective symptom data was mentioned as a concern by one of the reviewers, however most healthcare data today is still self-reported, i.e. the doctor asks you how you feel and records it. In fact the phenotypes that we found associated with the specific mutations were consistent with those found by others in more traditional research cohorts, suggesting that self-reported data can reliably be used to support PD genetics research. But even when we do have objective biomarkers, the ultimate measures are still whether the patient feels and functions better.
Update from Paul on September 14th: “I went in yesterday to have the device turned on and programmed. Currently set at a low level of stimulation, whilst we taper off the dopamine replacement medication. But even at this level I notice a marked improvement in my ability to walk, especially in terms of arm swing etc. so I am hopeful of a very positive journey”