Monday, August 4, 2014

Experiencing the International Symposium on Usher Syndrome and Family Conference #USH2014

I walked into the conference center on Harvard's Medical School campus feeling completely out of place. I made a cup of coffee from a large, silver coffee urn and took a muffin to a table in the sun-filled lobby, where I surreptitiously checked out my fellow attendees. Momentarily overwhelmed, I saw people using tactile sign, white canes, and guide dogs; I heard German and French and English, science (oligonucleotides, anyone?) and parents (intense discussions on keeping cochlear implants and glasses on the ears of small children.)

A moment later a man wearing dark glasses was guided by a woman to my table. When he brightly signed GOOD MORNING, HOW ARE YOU? and I responded, GOOD MORNING, I'M FINE, he began a flurry of ASL. I tried to keep up and responded with an apology; explaining my ASL has become a little rusty. He stopped me mid-sign, reaching over to take my hands and then telling me, "NOW, AGAIN." Haltingly, I repeated myself and he smiled and said, "THIS IS HOW WE DO THIS--IT'S CALLED TRACKING."

When I told him I had two daughters with Usher type 1b he replied, "I'M RENÉ, I HAVE USHER, AND I'M OK." Between sips of coffee he told me crazy stories about driving on country roads and his work as the State Coordinator for the Deaf in Vermont.

In those first ten minutes, even before the Symposium officially began, I knew it was good to come here; I knew this was the right place to be.

Much of the first two days was confusing and complicated-we were well into the afternoon session on functional genetics before I figured out that the presenters were exploring how the Usher proteins work (or don't, as is the case) and where they are implicated. You can't fix a problem if you don't know how the problem is precipitated in the first place. Many of my notes devolved to the astute observation of "more mice" and "so many mice." I did learn that one difficulty in using mice as test subjects is that mice do not get retinitis pigmentosa the way people do, so finding a model was one facet of the research presented.

I gained a much better understanding of how the eye works, though I still find it more complex than my old friend, the cochlea. I am incredibly thankful that parents were encouraged to approach the doctors and researchers during the coffee breaks and lunches, which, after listening to their brilliant work aimed at helping those living with Usher, felt a little like approaching movie stars at the Oscars.

I had the opportunity to be a complete emotional mess when I got a chance to speak with Dr. Mark Pennesi, who is working on a currently running clinical trial; "the first study that aims to treat RP due to Usher Syndrome by gene therapy." He was so compassionate and patient when I blubbered about hoping the trial goes well enough that I can bring my girls to see him for therapy in the future.

Throughout the presentations I found myself fighting back tears; of sadness and relief and joy and awe. I kept thinking, "These are the people who will help Gianna and Pia; thank God for smart people." Each fellow parent I met brought new perspectives and sage advice. I learned the solace that can come from being with others who really know what you are going through.

Meeting adults with Usher and hearing about their joyful and successful lives assuaged some of my fears. I loved learning about the things their parents did to support them and I took note of things they felt were unhelpful. In many ways, parents of very young children with Usher are charting new waters. Genetic testing and universal newborn hearing screenings are changing the typical age of diagnosis from adolescence to toddlerhood. How do you talk to a four-year-old about retinitis pigmentosa? A five-year-old? A seven-year-old? We're all trying to figure that out.

My own seven-year-old seemed to enjoy herself and accepted other people's use of guide dogs and canes not as a concern, but as a fact, in the same way some people use cochlear implants to listen. The night after the conference finished I was discussing with my mother whether or not it was hard to see people with guide dogs, and Gianna piped in,"Why? Why is it hard?"

I'd forgotten she was listening to our conversation so I stammered, "Well...you know...mommies worry sometimes about their kids. It can be hard to see grown ups with Usher and then worry about whether your kids might need a guide dog someday." She considered this and said,
"But...you're not worried."

I sat there, frozen in disbelief. How could she think I'm not freaking out? I spend inordinate amounts of time battling anxiety over this whole deal, how does she not perceive this? In that moment, though, in our hotel room, I realized that she didn't think I was worried because we've tried to present her with information about her diagnosis that is factual and positive. We've managed, so far, to acknowledge her differing abilities while seeking out ways for her to access all the experiences a kid can have. Cochlear implants and vestibular rehab, canes and guide dogs, in her eyes these are all just tools; they do not carry the emotional weight that my anxious, adult mind gives them.

"Sometimes I feel worried but right now, I don't. Right now I feel happy to see doctors working on ways to keep your eyes safe and right now I feel happy to meet the people with guide dogs and canes and hear their stories." She smiled and went back to playing with her newly acquired swag from the American Girl Doll store.

 The Symposium changed me. That is the simplest way I can describe my time in Boston; I came away changed. At the barbecue wrapping up the family portion of the conference, I watched Gianna run across the lawn and trip over the same step that almost every kid and adult with Usher had tripped over and she didn't feel self-conscious at all because she wasn't the only one. I heard scientists express how inspired they felt after meeting the families they were spending so many hours in the lab to help. I felt an incredible peace being encouraged by a woman my age with Usher that my girls are going to be ok and that I'm doing a good job while Gianna snuggled with the woman's sweet guide dog. In each of these instances I caught myself thinking that not everything about having Usher is bad. I'm so thankful for the experience of #USH2014.

Saturday, July 19, 2014

And Weekend Always Go Fast

The summer Pia was born lives in my memory as the summer of popsicles. It was so incredibly hot that over the Fourth of July weekend, when I painted her changing table a fun, new color, the paint dried almost immediately. Great with child, I kept wandering over to the inflated baby pool to cool off amidst the splashing and shrieks of a freshly five-year-old Gianna and a two-and-a-half-year-old Dominic.

After Pia arrived, our family and friends completely spoiled us with visits and meals and gifts. In my experience, the first few days after having a baby are the best. I've not had to go to the hospital to have my babies, so I'm already tucked peacefully in my own bed, hearing the sounds of my household humming along joyfully while I snuggle my new babe.


My Babymoon with Pia also lives in infamy because Brad was able to take off almost 4 weeks from work. I wish every new mom had that luxury. He took the big kids to the pool almost everyday, made breakfast and lunch, was able to be present with me in the quiet, magic moments newborns create and also be there as a support in the moments when I seemed to be going off kilter with three small people needing so many things at once.

Mostly, though, that summer was idyllic because we didn't know about Usher Syndrome. Of course I wasn't completely worry-free; I worried over the same things all mothers with newborns worry about, and some extras. I could tell, even in those early days, that Pia might not pass her hearing test, but that didn't seem as scary since we'd already dealt with hearing loss. I had a team of people to rely on, I understood the cochlea and speech therapy. I understood that it wasn't going to be easy, but I knew the tools we had available and I knew how to use them.

As we've celebrated Pia's second birthday this weekend, I've reflected on that summer and I've wished to go back in time and push the pause button. No one gets older, no one goes back to work, no one progressively loses their vision. That's not possible or healthy, of course, I chide myself, but sometimes I long for it.

 It occurs to me, though, that I always knew we were living with Usher Syndrome. It just didn't have a name. When Gianna was born, I remember wondering if she was going to be ok. I remember standing at the changing table with Pia and unbidden, the thought jumping to my mind, "I hope she's going to be alright."


I never once had those thoughts about Dominic. I know those thoughts were the shadow of Usher. I still worry. A lot. I still have those thoughts jumping to my mind, watching Gianna play Marco-Polo in the pool or Pia struggling to walk on uneven surfaces. Sometimes I'm just driving down the road and they come to me, along with a sudden tightness in my chest and I have to take a very, deep, slow breath. Now, though, I can name these thoughts and this anxiety. It is named Usher Syndrome and we are surviving it. In fact, I look at the smiles on the faces of my girls, the joy they bring to our family and the broader community and I realize, we are even thriving despite it.

I'm so glad we have our PiaBaby. I love to watch Gianna and Dominic dote on her and encourage her to use her little voice. As much I want to go back to the summer she was born and stay there, life is speeding along, and I've spent much of her two short years here worrying and struggling with grief. I know now that the grief cycle replaying itself is part of living with Usher Syndrome as milestones are delayed or missed, as changes in vision take place and new accommodations must be made.



These two years were gone so quickly. I can't get them back. I blinked and today I have a seven year old and a four-and-a-half year old and a two year old. Today, everything is ok. I'm going to be in this moment, this weekend, and hang on to it until it slips by in to the next moment; whether it will be peaceful or difficult or sad or joyful and know that nothing was wasted.