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Friday, May 14, 2010

Friendly Fire

by Jennifer Phillips, Ph.D.

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.

"Each of us is entitled to his own opinion, but not to his own facts.”
Daniel Patrick Moynihan

Mark began this debate by airing some grievances against the scientific and medical communities. The central charges as I read them (from my anti-hope enclave) are as follows:

1. Through their perceived reluctance to communicate and network on Usher-related research projects, scientists are impeding progress toward a cure and engendering mistrust and betrayal among patients and families.

2. By limiting patient education to well-established medical facts, and/or neglecting to educate themselves on the latest research, doctors are failing to give hope to families reeling from a diagnosis of Usher syndrome.

Formidable challenges, indeed. So, here’s my attempt at rebuttal, from the top:

Just as Mark uploaded his last post, I was preparing to travel to Ft. Lauderdale, Florida for the Annual Meeting of the Association for Vision Research and Ophthalmology. From May 2nd to the 6th, more than 11,000 scientists and clinicians convened under one roof to speak, listen, learn and share ideas about this year’s topic: “For Sight: The Future of Eye and Vision Research”. Mind you, not all 11,000+ were there to talk about Usher syndrome, but there were literally hundreds—hundreds!—of presentations on developing techniques for better diagnosis and treatment of RP. I spoke with a huge number of people, laid the groundwork for some new collaborations, and came back to Oregon bubbling over with ideas for new research directions to pursue. Coincidentally, as that meeting was underway, a paper was published in the Journal of Clinical Investigation presenting collaborative work between myself and clinician-scientists at the University of Cologne in Germany. Thus, I was practically wallowing in a vat of collaborative goodness as I read the words of my esteemed co-blogger:

"Researchers are loathe to discuss any research that is currently underway because until the results are not only in but have been peer reviewed, they can not be trusted to be fact. Understandable. This is especially true when discussing research done by someone else because, obviously, if you’re not doing the research and the results have yet to be published, you can’t possibly know the results.”

My first thought was “Whoa, dude, you are so wrong”. But then I started to wonder what might have led him to form such an opinion. I mean, Mark is a smart guy. More to the point, he’s a proactive guy who’s taken the initiative to build a network of families and physicians and researchers working toward the common goal of fighting back against Usher syndrome. He hobnobs with some pretty heavy hitters in the Usher research community, the kind of people who never remember my name—probably because I devolve into a groveling, insignificant puppy in their presence…but I digress. My point is, if someone like Mark, who’s really got the inside track on the research angle, has this impression of the research world, what are we scientists are doing wrong?

The answer, while multi-faceted, boils down to communication lag:

Disconnect between the routine interactions within the research/clinical community and the extent to which patients and families are aware of these goings on.

While I was at the ARVO meeting I asked a nice lady at the information desk about mainstream press coverage of the meeting. I mean, nearly 12,000 people converging on South Florida to talk about eyes has to be newsworthy, right? She looked at me as if I had sprouted tentacles, and an awkward conversation ensued, during which I tried (in vain, I think) to convince her that my question was only meant to acquire general information and not some ego-driven attempt to pimp my own highly important research findings. My take-home message from that encounter was that, in general, teeming nerd hordes don’t make very provocative headlines. Go figure. The good citizens of Ft. Lauderdale had no idea what we were up to in there, and all over the world similar stories are playing out on a regular basis. Large scientific and medical conferences with attendance well into the thousands are commonplace. We talk to each other a LOT—we share boatloads of unpublished data, swap cool reagents, and forge integrative collaborations, all on an astonishingly frequent basis—and you’d never know it. Because it isn’t ‘news’. Which brings me to:

Mainstream media bungling handling of scientific news

Unlike scientists, who tend to err on the side of understatement and uncertainty (because after all, a hypothesis can never be proved—it can only be disproved), many journalists trend the other way, often favoring sensationalism over nuance. Most scientists, while perfectly willing to share details of their work with one another, are somewhat more wary sharing similar details with the media until the peer-reviewed publication process is complete. There are exceptions from time to time. Occasionally, a researcher will engage in what has been termed ‘science by press release’. Usually this is accomplished by holding press conferences in conjunction with or in anticipation of a publication, whereby the researcher may use the public forum to speculate or opine on findings that go beyond the peer-reviewed data. The press, therefore, tend to report on a rather unbalanced view of the topic, and it usually takes the larger scientific community some time to put the findings in context. The hype over the ‘Ida’ fossil published last year is one such example; the utterly unfounded ‘link’ between autism and the MMR vaccine is another.

Point being, it is not generally in the best interest of science or the medical applications thereof to make public pronouncements that can’t be backed up by good hard data. You, the patients and families, may wish to hear more preliminary reports, and we may wish to provide them, but in reality it would be difficult to do so on a large scale without creating a lot of misunderstanding and false hope.

Competetive research environments

I don’t mean to suggest that the research community as a whole is 100% transparent about everything we do all the time. When researchers discover they’re working on similar projects, they will often agree to pool their findings and collaborate—but not always. Obtaining and retaining funding is a competitive process, after all. Research grants are in relatively short supply and are awarded based on the uniqueness and feasibility of the proposed experiments. Furthermore, far from being a mere benchmark of personal achievement, funding is essential not only to finance the research materials, but the personnel doing the experiments. Running a research program is in many ways like running a small business, and getting—or keeping—a research grant is often the difference between hiring on an extra technician and having to let some lab members go. A small business owner wouldn’t play fast and loose with trade secrets that could bankrupt his or her company—is it fair to expect research scientists to take a similar risk?

Are there things we, as scientists can do to combat this perception of paranoid isolationism? Sure—in fact, that’s one of the reasons I began to contribute to this blog. That said, I hope the above points have helped to illustrate that a) unpublished results are shared freely in professional settings and b) there are necessary and legitimate limits to how and when a researcher should divulge these unpublished results.

Now, on to defend the poor doctors who have been painted with the same anti-hope brush. Again, Mark correctly identifies one motivation for sticking to hard facts when delivering a diagnosis, namely the ethics involved in leveling with patients and families about bad medical news, which actually goes quite a bit beyond ‘do no harm’. Doctors are schooled pretty hard on this. On a personal level, they may long to soft-pedal the news, but they are ethically compelled to tell the whole truth, however grim or devastating it might be, because of all the ramifications of informed consent and the general trend away from a paternalistic practice model to one in which patients are encouraged to be active participants in their own health care choices. Mark, speaking from the patient/family perspective, made the point that the delivery of such news would go down a lot better if combined with hopeful news about nascent treatments, etc. As reasonable as that sounds, there are, again, a number of difficulties in making it a reality. And once again, it boils down to communication:

Bedside manner

Some doctors, while excellent clinicians, are wretched communicators. This is a ‘soft’ skill that can be difficult to teach.

The limits of specialized care

The health care provider who delivers a diagnosis of Usher syndrome may not be a specialist in this disease. Usher syndrome is a fairly rare and exceedingly complex disease. It would be onerous indeed to expect every clinician who was ever likely to see an undiagnosed case of Usher syndrome to keep pace with the published research on the topic, let alone stay current on unpublished research endeavors.

Differences of opinion

Different doctors give different ‘weights’ to new experimental findings based on their comfort level with the techniques and/or technology. As such, a doctor might initially choose not to discuss a nascent therapy when first delivering the diagnosis. However, I must add that I feel this choice would only be valid on a temporary basis.

Doctor-Patient communication

Bedside manner notwithstanding, what a doctor says and what the patient (or family) hears can sometimes differ to an astonishing degree. Dr. David Gorski, a breast cancer surgeon and scientist (and most excellent medical blogger) recently discussed this phenomenon:

“A while back, I saw a patient with breast cancer in her hospital room, a woman I had operated on the day before. I thought I had calmly laid out the situation, reassured her that her tumor was treatable, and told her that she might not need chemotherapy. About an hour later I got a frantic page from the floor. The patient was in tears, and the family was in an uproar. I don’t know how I had done it, but I had somehow given this patient the impression that her situation was hopeless and that she was going to die. When her family arrived to take her home she was crying. Apparently she had interpreted my telling her that she might not need chemotherapy (mainly because of her age and tumor characteristics) as telling her that it was pointless to treat her more. I relearned a valuable lesson that day, one I (and, I daresay, most doctors, no matter how experienced) need to relearn periodically, namely that patients don’t always interpret what I tell them the way I think they will and that sometimes how I view a conversation with a patient may be very different than how the patient viewed the conversation.”

This experience, which is far from unique, argues in favor of delivering a diagnosis in concise, clear, unambiguous terms, and saving details such as treatments on the horizon for subsequent visits.

The lag between research results and clinical applications

I spent about 12 hours of my 5 days at ARVO attending lectures on emerging therapies for retinal degeneration—the majority of which were either stem cell based or gene therapy based. I saw some truly impressive clinical trial results and extremely promising preclinical studies with animal models of RP. Importantly, even as they revealed what were likely the most ambitious achievements of their careers to date, the majority of presenters concluded their talks with cautionary words about extrapolating too much from these findings. Most advocated proceeding with great caution with thorough clinical trials. These are cutting edge therapies, tested under extremely narrow, controlled experimental conditions. History has demonstrated that mainstreaming such treatment options without adequate safety testing across broader patient demographics can have unfortunate consequences. So, as anxious as we all are for a cure, there are extremely good reasons for proceeding in a prudent, science-driven manner.

Again, there are certainly some areas for improvement in communication between physicians and patients, between scientists and physicians, and within each of these groups, but at the end of the day, the facts are what they are. When one speaks of facts, one is referring to informational pieces of objective reality. Factual information is the bread and butter of science and medicine, and scientific research is, essentially, a steadfast embrace of one’s own ignorance of a sought after set of facts. Sure it can be frustrating at times--as Mark (and David Byrne before him) lamented, facts often don’t do what we want them to do. What we have to realize as scientists, and I think, as humans, is that we must allow reality to tell its own story. If we superimpose our hopes for a particular outcome on top of newly discovered ‘facts’, we lose objectivity and risk misinterpreting the findings.

Friday, May 7, 2010

The Experiences of Molly Watt and Her Mum

by Molly Watt

November 06 I got diagnosed with Usher Syndrome Type 2 at the age of 12.

Just before I finished year6 at primary school (nearly 4 years ago) I was experiencing a lot of daily migraines and headaches. We didn’t think much of it, but it started affecting my daily routine. After mentioning it to various people, they all suggested that I should get an eye check and perhaps receive a pair of reading glasses.
Figure 1:  Molly and Her Mum

At this point, since birth I had been hearing impaired. So the eye opticians asked why I was deaf, but we didn’t really know, it was just unexpected. So having been at the opticians for the majority of the day, doing lots of tests, with more and more colleagues coming in to have a peek as they were all so curious. At the age of 12 I really wasn’t too sure what was going on. After a while, the eye optician pulled mum aside and we were lucky that this guy had been reading about ushers, so he knew of it, but advised us to go to get some other special tests done to receive official diagnosis.

To be perfectly honest, I didn’t find out about the diagnosis, I was just given glasses to be worn all the time so I didn’t think it was anything serious. After a while, when we had attended Moorfield Eye Hospital a couple of times, I did start to wonder why I was going to a specialist eye hospital. So that summer of 2007, I started asking questions and it got out. I didn’t really understand it, bottom line though, I just thought I had a rare eye problem that none of us were really sure about! I didn’t at this point know that it meant my eyes were going to worsen and I was now classified as ‘blind’. In fact thinking of it now, I never really properly understood any of it ‘til late last year really! I did little research, but I avoided doing that most of the time, because it just scares everyone, and every usher is slightly different, and I’ll find out in my own special ways how it is. Because we live and learn!

Since the diagnosis I think it boosted everyone’s positivity. 2006, for my family was a very stressful, upsetting year. My nan got cancer, and died in the August. She kind of taught us a few lessons, because she was amazingly positive! So since the diagnosis and all the grief my family got that year, we thought, Hey! We only do have one life, we’ve got to live it, be positive and have fun, whatever we have on our plate! As long on as we have each other, nothing will really bring us down. We fight together.

So I think that it has made me a stronger, more positive individual. Although it can bring me down some days, it teaches me to rise above this, and live life, and not let anything stop me from doing what I want to do.

Being diagnosed for almost 4 years has taught me a lot of things. But I wouldn’t say it has changed my life. In some ways it has affected what I thought of life, like for example, since I was little I have always loved yellow Beetle cars, and always wanted one “when I was a big girl!” but I have figured, I will never be able to drive so I don’t think I’ll be getting one of those! But to me, not being able to drive isn’t the end of the world, but knowing myself, I know when it comes to that time when all my friends are learning to drive I may get upset. It’s just one of those things that just cannot be helped. But I have my strategies of learning to overcome these things.

When I was little I used to tie my hair up on the top of my head and expose my hearing aids to everyone. Little did I know that that was the actual reason why I had so many people staring at me constantly. So when I started secondary school I became more conscious of them and started wearing my hair down. Having glasses as well didn’t bother me at all. I think just now, being 15 almost 16, I’m more or less like any other typical teenager. I get moody, I wear make up, I like to dress nice and I like boys! Having ushers has changed my attitude to life. Sometimes I get upset when I can’t see in the dark at parties like everyone else, but I still go along to see my friends. And having friends that actually help out and care for me are so worth living for. So whether my life has changed or not, having ushers has definitely has improved my positive thinking.

During phases of research, it often said that type 2 is severe hearing loss, and at late teens the eyes start to deteriorate over a long period of time. It’s different for all ushers because as I said, we’re all slightly different! But my eyes have changed/worsened/deteriorated a lot faster than I thought, which has surprised me.

And my eyes are very sensitive to bright light as well as dark light! That took me by surprise at first too I guess.

I did expect to receive more help at school, have more modification done, and in the past year, the preferred font size has increased in size rapidly, I wasn’t really shocked at that at all…

Life goes on, I still have my family and friends, so I’m happy!!

Molly’s Mom
by Jane Watt

Molly has usher syndrome type 2 - this means Molly is severely deaf and has retinitis pigmentosa (RP) an eye condition which causes night blindness, glare blindness and tunnel vision.

This means Molly is deaf, blind and deaf/blind.

Having been born deaf Molly did not speak very much until she was 5 years old. Her deafness caused a significant speech and language delay and she therefore attended a mainstream nursery that had a hearing impairment unit (HIU) from the age of 3. The support she received in the nursery was amazing and indeed we were able to move her to our local mainstream primary school once the necessary support had been put in place.

Molly had a Statement of Special Educational Needs from age 18 months.

In accordance with her statement the local mainstream school had to put in place various things to enable Molly to attend.

The school had to provide Molly with an acoustically hearing aid friendly environment. This meant, replacing the windows, replacing the old blow heaters with quiet radiators, providing soft furnishings like curtains and carpets in order that Molly's access to the curriculum was enabled.

Molly was given a teaching assistant for the academic subjects, English, Math and Science - a total of 13 hours per week initially.

The teachers assistant was responsible for making sure Molly was accessing the curriculum that she was learning at a pace suitable to her and that her equipment - hearing aids and radio aid were working and maintained within school.

That a specialist teacher of the hearing impaired visited twice a week for an hour at a time to support Molly, the teaching assistant and any teachers involved with Molly.

Also that a Speech and Language therapist see Molly fortnightly for an hour.

This system worked very well in Primary School and there was no reason for consideration to be given to a special school.

It is our opinion that Molly has learnt amazing life skills and strategies from being in mainstream school as she has been taught alongside hearing children with the necessary input and support.

On entering secondary school things are quite different, the main initial issue was the sheer size of the school and also educating so many teachers about the required support for Molly. Clearly having a teaching assistant to intervene between Molly and the teachers was a very good idea.

The teaching assistant would basically be responsible for meeting Molly's additional needs within the classroom, thus enabling her to work to the best of her ability alongside the other pupils.

Again the teaching assistants would be supported by the specialist teacher of the hearing impaired and the specialist Speech and Language Therapist.

This system worked well until Molly was diagnosed with usher syndrome and the blindness began to become obvious.

Molly could no longer access the curriculum without her work being modified and or enlarged. She now needed to sit in a certain position within the classroom and had to be in the correct lighting conditions. Molly could not see people around her, could not see below or above her eye level and indeed she began walking into things and people and falling over objects in and around the school.

It was now very evident that life in mainstream was both difficult and challenging and that we needed to consider other options.

Molly was at an all time low, she did not understand what was happening to her and she was exhausted, emotional and very afraid - she felt for the first time she did not fit into mainstream school, but did not know where she belonged.

Molly made the decision to go to a special school for the deaf as she felt she needed to find where she belonged. There were a couple of other children there with usher syndrome, however, the majority are just deaf. The small classes appealed and Molly felt safer and more able to continue her education without being 'The Odd One Out.'

However, this has not been the case. Molly is very much 'different' from the other children and the deaf children were almost jealous of her for the first year or so. They seemed to resent this new person arriving at their school and needing to sit in a certain seat, needing to have the curtains drawn rather than allowing the bright sunlight in, needed extra attention from the teachers with regard to modifying and enlarging her work, that she had many visitors accessing her additional needs, indeed this part of Molly's life was indeed stressful and upsetting and very hard for us as parents.

The specialist school for the deaf were able to cater for Molly's needs as a young deaf person, however, there is still need for a specialist visual impairment teacher and also a multi sensory impairment teacher, to support Molly and the staff who work with Molly.

The deterioration is Molly's sight now means she has a full time note taker and also is learning Braille. Molly still feels she does not fit in this specialist school as she is different.

Molly does not have learning difficulties, indeed she is an incredibly intelligent young lady and she copes extremely well but only because she has the necessary support.

For Molly the specialist school has offered her small classes (maximum of 8) which has made accessibility easier. There are less people around, so less obstacles for her to navigate around. Mobility for a deaf/blind person is incredibly difficult and they rely on memory and being taught safe routes etc. In mainstream this would be made far more difficult due to the volume of people.

For Molly, the benefits of mainstream school have made her aware of 'normality' and this has equipped her with invaluable life skills, which a lot of children who have always been educated in special schools do not have.

Molly has always been a very happy child and even with the onset of her blindness, from 12 years old she has on the whole amazed us with her ability to deal with everyday as a challenge and to grasp life with both hands and to laugh at herself. Indeed she is an inspiration to all.

I believe Molly can be a great ambassador for usher syndrome as she will show people a positive side of a very cruel condition.