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Why Early Diagnosis of Usher Syndrome is Important to Funding Organizations

August 17, 2009

By Mark Dunning

Jennifer and I will be writing along different paths for a while. Our posts will relate better over time, but I have to catch up on some of the postings I owe. First up is why funding organizations would be wise to invest in projects aiming to improve early diagnosis of Usher syndrome.

I'll start with the horror stories and I have heard these numerous times. A researcher writes a grant proposal around early diagnosis of Usher syndrome. They submit the proposal to a funding organization who rejects it. In the rejection the funding organization states that it is an excellent grant proposal and would certainly help diagnose children with Usher syndrome earlier/more accurately/more frequently. However, they state, they do not feel that early diagnosis is appropriate/valuable/ethical at this time given that there is no cure for Usher.


Before we go further, let me take a moment to defend the funding organizations' position because this type of response can seem bureaucratic, heartless, and near sighted. It's actually the opposite. Funding organizations care deeply about the people that their funding aims to help. The last thing they want to do is fund a program that makes life worse for the people they are trying to help. That's why they deny grant proposals for early diagnosis programs. They perceive that, as long as there is no cure for Usher syndrome, the emotional toll of an early diagnosis on a family outweighs the benefits for that family. In short, they think the program will make life worse for the people they, too, want to help.

We discussed earlier why early diagnosis is a good thing for a family. Here's some reasons why funding organizations should invest in early diagnosis:

The cure might only be found through early diagnosis
Funding organizations are eager to help fund efforts to find a cure for Usher syndrome. As we discussed previously, there are treatments available today but nothing that would be considered a cure. We can't say 'do this and you won't lose your vision'. But that's from the perspective of older patients (and by older I mean non-infants). These treatments might prove dramatically more effective if provided earlier in life.

I'll give one example. Almost all ophthalmologists prescribe the use of sunglasses to people with Usher syndrome. There are studies under way that seem to indicate that the vision aspect of Usher syndrome is aggravated by prolonged exposure to bright light. In one particular still in progress study, mice with Usher that had never previously developed the vision loss associated with Usher syndrome did so once they were exposed to bright light.

This study is still under way, mind you, and what I'm about to write comes from this keyboard and this keyboard only. It is not fact or based on any science. But just imagine this scenario. What if we find out that bright light is actually the trigger to the vision loss and once that progression begins, it can't be stopped. In other words, what if simply putting sunglasses on an infant with Usher syndrome is all it takes to keep the vision loss from starting?

Again, there is no evidence to support this and the truth is that the likelihood is miniscule. But the reason we don't know for sure that it doesn't help to put sunglasses on an infant is because we have done a poor job of identifying infants with Usher type 1 and an almost non-existent job of identifying those with Usher type 2 and type 3.

The truth is we don't know if these treatments are more effective if administered earlier because we haven't been identifying patients earlier.

We lack knowledge about the early progression of the disease
We do not know the answer to some very basic questions. We do not know, for instance, if children with Usher syndrome have some degree of vision loss at birth or not and if not, when they do start to present the vision loss. In short, we know next to nothing about the early progression of the disease.

This is critical information for funding organizations to have because it could greatly influence where they put their money when searching for a cure. I'll delve in to the hypothetical again for a moment. Say, for arguments sake, that all Usher infants are born with perfect vision and the vision deterioration does not begin until they are, say, six months of age. Well, we should be looking for treatments that 1) focus on maintaining vision instead of restoring it or slowing the degradation and 2) can be administered to infants. However, if children with Usher are born with discernable vision loss, the focus should instead be on restoring vision or slowing the progression. It also may be less critical that we treat infants if their vision is usually no different than, say, a five year old.

The point is we simply don't know enough about the early progression of the disease and as such, funding organizations may not be wisely investing their research dollars.

Cost savings by eliminating other diagnoses
Look back through this blog and you'll see the topic of eliminating other diagnoses in discussions about why early diagnosis is important to physicians, therapists, early intervention staff, and families. Well, it's important to funding organizations for many of those reasons, too, but for one that doesn't matter much to those other parties; cost savings.

Let me use our experience with our daughter as an example. Bella was born with hearing loss. There are a lot of causes of hearing loss. One in particular (not Usher) can cause heart problems. So Bella saw a cardiologist and had tests to eliminate that as the cause. Cha-ching. Bella was a late walker. She had low tone. We went to see a specialist on low tone. Cha-ching. Bella had balance problems. She seemed to be knock-kneed. We went to an orthopedic specialist. Cha-ching. The orthopedist thought that maybe she needed cookies for her shoes. We got those made. Cha-ching. The cookies didn't help. Hmmm. Perhaps it's neurological. We went to see a neurologist. Cha-ching.

You get the idea. Were Bella simply identified as an infant as having Usher there would have been no need for a cardiologist or a neurologist or many of the other appointments we went to trying to figure out what was going on. That's tens of thousands of dollars the system could have saved. Somewhere Barack Obama is crying.

Cost savings by delaying vision loss
Low vision is expensive. Ask any adult that lives with it. You need training and transportation and specialized computer equipment and, in some cases, specialized interpreters. It all costs lots of money and is a burden not only on the patient but on the system as a whole. As we have discussed numerous times, there are treatments today (vitamin A, DHA, sunglasses) that may very well slow the vision progression. Let's say for the sake of argument that providing these treatments at a young age only buys the patient one additional year of useful vision. Even that small amount of time and the associated savings is still a lot of money when we're talking about 50,000 people. It's also another year for technology to improve or reduce in price. Most importantly, that one year might be the year we find a cure, eliminating the need for all of it.

They are going to be diagnosed eventually
This is the most obvious and most often forgotten point in any discussion of the emotional impact of early diagnosis. You are merely putting off the inevitable. A child with Usher syndrome is going to have vision problems eventually. That child (or possibly an adult by this point) is going to see a doctor about that vision loss and is going to be diagnosed with Usher syndrome. Just because a child was not diagnosed with Usher as an infant doesn't mean they didn't have it as an infant. The family is going to have to deal with the emotional impact of the diagnosis at some point. Is it better for a teenager to find out he or she has Usher? A student going to college? A mom having a child? There is not good time to get the diagnosis. Which brings us to the next point.

Most families wish they had known earlier
No one wants to be diagnosed with Usher syndrome, but the lament I hear from families all the time is 'I wish I had known earlier'. Parents alternately feel ashamed that they didn't recognize the problem earlier and relieved that their nagging doubts were finally acknowledged. Families adjust to difficult diagnosis. Heck, all Usher kids have hearing loss. Very few of the families expected that. Yet no one advocates hiding that diagnosis from families. Early Usher diagnosis should be treated the same way. Yes, there is pain associated with it, but there is far more value in it for families, physicians, and for society as a whole than there is in delaying the diagnosis. Delaying the diagnosis, far from helping families, is doing them a disservice.

So funding organizations that have their heart in the right place should feel confident that putting money into programs that improve early diagnosis is not just right for science and for society as a whole, but for individual families as well.

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