by Mark Dunning
Editor’s note: This is a planned public debate between Mark Dunning and Jennifer Phillips, the two primary contributors to this blog. The ideas expressed in the posts during this debate will be purposely provocative and unfinished to invite a response from the other party. We hope you find the discussion valuable.
It seems like this is a good time to start discussing solutions rather than problems. First, a truth, since I know you can handle it: I don’t really have much resentment toward researchers. The truth is a lot of them have become good friends of mine. I am amazed by the hours they work and the amount of dedication they have. In fact, it was the willingness and downright eagerness of three researchers to include me in the process that gave me the confidence to stick my nose in all of this in the first place.
I now know many (if not all) of the top Usher syndrome researchers in the world. They treat me like a peer even though I’m not. They never withhold information and actually appear to take great joy in educating a neophyte like me (most of them are professors, after all).
But my frustrations with the communication between families, researchers, and physicians is very real. I have burrowed in to the research community, but how I got here was all trial and error. I feel very fortunate to have gotten access to the information I have. I didn’t leave a trail of breadcrumbs for other families, however, and quite frankly it took a LOT of time, effort, and luck. Most families don’t have the resources available to them that I did.
One of the comments on Jennifer’s last post struck a chord with me. It was anonymous, but it was clearly posted by a family member well versed in research (the writer mentioned glial cells, for goodness sake). As I read it, I could hear the pleading of the writer for information. The writer mentions hearing about a potential treatment in 2008 but not hearing anything about it since.
The post rings with questions: Has nothing happened since then? Did it get dropped? Did they find out it’s not going to help? Did they just hit a roadblock? Do they need money to pursue it further? Who’s working on it? If I give money, will it get to them? How can I help?
No one answers these questions for families and that makes them, as this particular commenter put it, ‘frantic’. Jennifer’s 911 call would be a good metaphor except that for families with Usher syndrome, there is no number to call, no dispatcher to talk them down, and no siren in the distance to let them know help is coming.
So that’s where we stand in the debate. How do we get researchers the tools and information they need while keeping families involved in the process? How do we overcome the fear of false hope while ensuring that frantic families are informed?
Once More, From The Top, With Feeling
It all starts with the communication process of the initial diagnosis. Hope in the diagnosis is not a luxury. It’s a necessity. Every time a family with Usher syndrome is so devastated by the diagnosis that they never get genetically tested, never go back to the doctor, and/or never share their natural history information, it limits our overall knowledge about the disease and lengthens the timeline to a cure. It also limits the available pool of candidates for clinical trials which may delay them or even keep them from happening.
We need to keep families engaged, and that makes hope as important as fact to finding a cure. Families that believe we can help them, whether it be today or in the future, will stay in touch with us and remain involved in the process. So, going back to my opening salvo, facts need to do what I want them to and that’s support the case for a hopeful future. Remember, as I wrote previously, we can handle the truth. (And, yes, I did actually write that, Jennifer. I must say that using my actual quote against me in your last post was dirty pool.)
So here are some truths that families should know as soon as Usher syndrome is suspected:
1. The truth is that while there are no proven treatments for Usher syndrome, vitamin A is often prescribed. It might help with Usher syndrome, it might not, but it is generally considered safe in proper doses, especially when combined with regular tests of liver function . Most importantly, it offers hope to families that take it because they are doing something to help themselves or their loved one.
The same can be said for other dietary changes like DHA (Please note that I say dietary changes, not supplements. That’s different.). The truth is that most kids (and many adults) hate to eat fish but it’s good for them and not just for their eyes. Whether or not you have Usher syndrome you should probably work fish that’s high in DHA in to your diet (unless, of course, you’re allergic in some way). Lutein is the same. It’s found in spinach and broccoli and other stuff kids hate, but it’s good for them and they should eat it whether they have Usher syndrome or not.
It is also the truth that sunglasses make you look cool, so if there is a chance they might slow the vision loss, you should probably wear them. They offer hope and the chance to look like a rock star.
2. The truth is that there are a number of treatments in development, many of which hold a lot of promise. Gene therapies have worked in clinical trials for other related disorders and there are a number of groups that intend clinical trials on Usher syndrome treatments.
3. The truth is that before any treatment can be used in humans, it needs to be tested in animals. The good news is that there are animal models for Usher syndrome. True, they have not consistently demonstrated the vision phenotype, but there are a lot of good people working on it that believe we will have one that does very soon (I’ll write more about this in a later post). It will be about thirteen nanoseconds before all those treatments under development are tried on an animal model that has the vision phenotype once it’s developed (OK, that’s probably not the truth, but it will happen quickly)
4. The truth is that these treatments under development are, depending on the treatment, 5-10 years away from helping you or your loved one, but we don’t know for sure when, or if, they will ever arrive. Sorry. It’s a hard truth, but you can handle it. However, keep in mind that…
5. The truth is that we don’t know enough about the vision loss associated with Usher syndrome to know for certain the rate of deterioration that any individual faces. In short, we don’t know when, or even if, you or your loved one will lose their vision. What we do know is that the vision loss is progressive and that, except in rare cases, most people with Usher, regardless of type, retain some useable vision until later in life.
6. The truth is that, when you consider the number of treatments under development, the time frame for delivering those treatments, and the rate of vision loss (which may or may not be slowed by sunglasses, DHA, vitamin A therapy, lutein, anti-oxidants, or other potential dietary changes), a child born today with Usher syndrome has a chance of NEVER LOSING HIS OR HER VISION.
See? Families can handle those truths, right? Now, a lot of what I proclaim above as truth might not be so quickly supported by others (I won’t get in to the vitamin A debate again, for instance). However, even if a physician disagrees with any of the above and does not want to share it with families, I believe he or she, at a minimum, has a duty to tell families the following facts (note I said facts, not truths):
1. The majority of people with Usher syndrome that want to go to college go to college.
2. The majority of people with Usher syndrome who want to get married, get married.
3. The majority of people with Usher syndrome who want to have children, have children.
4. The majority of people with Usher syndrome who want to pursue a challenging career, pursue a challenging career.
In short, the majority of people with Usher syndrome live happy, fulfilling lives. That, above all else, is the fact that families seek and all too often it is never mentioned to them by anyone.