Results of May 12th Usher Conference Part II: The Relationship of the Message and Early Diagnosis

May 21, 2009

By Mark Dunning

One of the topics of discussion at the conference was the emotional toll of an Usher diagnosis, particularly at a young age, and its effects on our ability to identify children as early as possible. The majority of families diagnosed with Usher do not have older family members with Usher. It's the vagaries of genetics. Some families live in communities where Usher is prevalent. They see it in the neighborhood, they see it in the family, and, since we usually marry someone we know well, there's a good chance the girl next door has the same mutation, even though she's not a relation.

But most families find the diagnosis to be a complete surprise. Ninety percent of families that have a child with hearing loss have no noticeable history of hearing loss in the family. I say noticeable because they often don't remember about Aunt Mary who had hearing aids or Grandma's cousin Hector who attended Perkins School for the Blind until they get the diagnosis. For these people, just the diagnosis of hearing loss can be devastating. At a recent function, I described my reaction to my own daughter's diagnosis this way:

I love my daughter. I could not be prouder of her. She is more than I ever dreamed a daughter could be. She is daring and witty, fun-loving and hard working, kind and empathetic. She is a terrific big sister who loves her little brother dearly and she is quite literally the reason I [write this blog]. I was nothing before she was born. She made me matter. She made me believe. She saved my life. 

So please understand that context when I [write] this: When I learned that Bella was deaf, I wished her dead. I don't think I've felt more guilty about anything. It seemed to me that death was a better option for her, for me, for our family, than for her to live her life without hearing. That's how bad I expected hearing loss to be. I envisioned a life of loneliness, of scorn, of frustration, of misery, and I just couldn't face that. I couldn't see her in that much pain and I couldn't take being helpless to change it. Not for the rest of her life. Not my baby girl.

These feelings, while extreme, are indicative of how all parents feel. A diagnosis of hearing loss is that hopeless, that desperate. It feels worse than death.

This is a HUGE problem for early Usher diagnosis. Families are so emotionally crippled after receiving the hearing loss diagnosis that they simply can not cope with even the possibility that Usher syndrome, and the potential vision loss that accompanies it, might be the cause. They don't want to know. They don't even want to discuss it.

So even though we have the ability to genetically test children at a young age, many parents refuse. As a result, we have very little data on the retinas of infants with Usher syndrome. We don't know, for instance, if there is noticeable deterioration in the cells at birth or if the deterioration starts later.

This is critical in determining viable treatments and the timing of those treatments. For instance, if the retina is essentially perfect at birth, a treatment that maintains the cells is all that is needed. However, if the eyes are already deteriorated, we need to continue to invest in treatments that not only maintain the current cells but also restore the vision that has been lost. Big difference.

Parents don't care about the research benefits of early diagnosis, however. They need a reason why it matters for their child, here, today. The manner in which the diagnosis is delivered today lacks that.

There was recognition at the conference, therefore, that one of the keys to early diagnosis, beyond simply developing diagnostic screening protocols (which I will discuss in a future posting), was the delivery of the message. We simply have to develop a message that stresses the benefits of early diagnosis to families and, once crafted, train the diagnostic community to deliver that message. Parents need to understand that there is a benefit for their child, their baby, in an early diagnosis. Until then, they will continue to choose ignorant bliss over painful reality.

More about what that message should be in a future entry. Stay tuned.

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