Research and Insight from Lane

Hear See Hope Co-founder Lane McKittrick is raising four boys, including two with Usher syndrome, and pursuing her Ph.D. in Special Education at the University of Northern Colorado. Her research interests are deafblindness and family-professional partnerships. Here she shares updates on parenting, her research, and public policy.

Hear See Hope Experiences Podcast

I’m excited to share my podcast about raising two sons with Usher syndrome. In my first episode, I tell you a little about my family, and our experience working with IEP teams. It can be stressful trying to advocate for your child, and I have learned a lot along the way working with schools to support my sons Conner and Dalton. One of the best thing we did was allow our kids to have input into their their IEPs, so I talk in about the benefits of student involvement. My hope is provide support, guidance, and advocacy for other families.

Find my podcast on Anchor.

 

Presenting my research about the IEP Process

I had the privilege of presenting my research at the first-ever Network of the Americas Conference sponsored by Deafblind International and Perkins School for the Blind April 16. Leaders in the field of deafblindness from 20 countries in North America, Central America, South America and the Caribbean attended this major conference.

I presented preliminary data from my research on Parent-School Collaboration and Conflict: Experiences of Parents with Deafblindness During the IEP Process. This research involved interview many families who have been through this difficult journey with their children. I feel so blessed to have talked with so many amazing, strong, families. I remain hopeful that this research helps lead to positive changes regarding family engagement, collaboration, and partnership.

I was joined by my mentors and co-researchers, Dr. Silvia Correa Torres and Dr. Sandy Bowen. I’m so grateful for their knowledge and support, and I look forward to completing this research and making a difference for people who are working with school systems to support their kids.

We were honored to receive the Foresight Award

Todd and I were so honored to receive the Foresight Award from the Usher Syndrome Coalition in 2017. We are gratified by the recognition, mostly because it helps draw attention to the many people like us who are focused on funding research and treatment to find a cure for Usher.

Since we started Hear See Hope in 2004, it has been a journey of learning and growing relationships with others working toward the same goals. Hear See Hope was a founding member of the Coalition, whose mission is to raise awareness and accelerate research into the most common genetic cause of deafblindness. It’s so rewarding to work together with other committed and compassionate people, including families, physicians, researchers, organizations, and funders to find a cure.

Usher Syndrome Awareness Day

Gov. Jay Inslee declared Sept. 16, 2017 Usher Syndrome Awareness Day in Washington. We wrote to the governor and asked him to join other states in making the proclamation to draw attention to Usher and the many families it affects in our state and country. Conner was so proud to hold the proclamation. This is just one step in our advocacy efforts, but it’s an important one.

Many people don’t know about Usher – and that it’s the leading cause of deafblindness in the nation. We hope to make this an annual proclamation. Thanks to Gov. Inslee for his support of our cause.

 

 

Raising Awareness about Usher with our lawmakers

One of the ways Hear See Hope works to raise awareness of Usher syndrome is through our lawmakers. Todd and I met with Sen. Patty Murray in 2015 to educate her about the disease and the many families it affects. We appreciate her meeting with us and asking us about Usher and the work we’ve done through Hear See Hope to support not only Conner and Dalton, but other families who are living with Usher.

HSH co-founder Lane McKittrick presents research at national conference

Lane McKittrick, who founded Hear See Hope with her husband, Todd, continues to expand her efforts to find treatment and a cure for Usher syndrome by pursuing her doctorate in deafblindness at the University of Northern Colorado.

She presented her research at the Council for Exceptional Children Conference in Tampa Feb. 9, 2018. Her presentation, with Dr. Silvia Correa-Torres of UNC, was on Teaching Self-Determination to Elementary Students with Sensory Loss.

She and Todd founded Hear See Hope after their oldest son, Conner, was diagnosed with Usher syndrome. The foundation raises money to find a cure for Usher, the leading cause of deafblindness in the United States.

You can support their work by making a donation or attending the upcoming Laugh for a Cure auction March 24 at the Triple Door.

HSH Comedy Auction is March 24, 2018

Mark your calendars for Saturday, March 24, 2018 for the Hear See Hope comedy auction at the Triple Door! We’re thrilled to welcome comedian Tony V. back for another night of laughs. Join us for an entertaining evening of comedy, delicious hors d’oeuvres, wine and other beverages, and bid on terrific items our live auction. Don’t miss out on this evening of laughter, food, fun, dancing, and fundraising for a great cause. Help us laugh for a Cure for Usher syndrome, the leading cause of deaf-blindness.

Read more here.

Visualizing a Cure

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A Proposal for the Hear See Hope Foundation

Understanding Cone Degeneration in Usher Syndrome And Retinitis Pigmentosa
Within the retina, photoreceptors make up one of the most important and most vulnerable cell classes afflicted by retinal degenerative diseases, like those present in Usher syndrome patients. Drs. Jennifer Chao and Ramukar Sabesan, clinical and research faculty at the UW Medicine Eye Institute and Vision Sciences Center, are collaborating on a new approach to visualize what happens to the photoreceptors damaged by retinal degeneration using high-resolution advanced adaptive optics imaging – a next generation technology developed in our labs. This research is critical to advancing our understanding of these diseases and whether potential therapies aimed at preserving and restoring central vision to patients will be successful.

Research Summary

  • The goal of this research project is to better understand the mechanism of how central vision is affected in patients with Usher Syndrome and Retinitis Pigmentosa (RP) using our high-resolution adaptive optics imaging system.
  • Drs. Chao and Sabesan hypothesize that in patients with Usher Syndrome and RP, the cone photoreceptors (those responsible for our central vision) have impaired function early in the disease process — before there is loss of central vision — due to starvation of the cells.
  • At the UW Medicine Vision Sciences Center, we have designed and built an adaptive optics imaging system that can detect, measure, and map the structure and function of cone photoreceptors at an individual cell level in a living human eye.
  • With this new technology, we are now able to detect whether non-functional cone photoreceptors are present, and if they are capable of being stimulated.
  • Ultimately, this study will help us to determine whether potential therapies aimed at preserving and restoring central vision in patients with Usher Syndrome and RP will be successful.

A New Approach For Usher Syndrome
Recent approaches to treating diseases such as Usher Syndrome or RP include the use of stem cell transplants of photoreceptors, gene therapy, and chemical reanimation. However, a fundamental issue in understanding these diseases and translating potential therapies to patients is the ability to visualize their effectiveness at restoring function at the individual cell level. Until recently, the ability to study individual photoreceptor cell function in patients has been a challenge in the field because of the eye’s unique optics and because the retina is constantly moving.

The UW Medicine Eye Institute and Vision Sciences Center is one of only a few institutions in the United States to have designed and built an adaptive optics imaging system capable of imaging the human retina at a singular cellular level. Furthermore, our adaptive optics equipment has the ability to fix an image on the retina, allowing scientists to study cells that are not functioning properly and explore opportunities to stimulate those cells and measure the effects of any treatment with extreme precision.

Figure 1: Human foveal cone mosaic imaged with adaptive optics imaging system in the Sabesan lab. A) and B) are reflectance images with illumination centered at 543nm and 840nm respectively. Each spot denotes a cone photoreceptor and is about 2-4 microns in diameter. The scale bar is 20 microns.

Drs. Chao and Sabesan theorize that in patients with Usher Syndrome and RP, the central cones show signs of disruption in their structure and function before it is clinically noticeable. Several recent studies have shown that the loss of central cone function may be caused by the “starvation” of the cells following the loss of their rod photoreceptor counterparts. Using animal models with RP, researchers have shown that they can reverse some of the damage seen in cones and even restore their functionality with an injection of glucose into the subretinal space (4) (5) (6).

Using our adaptive optics imaging equipment, we propose to map the progression of cone photoreceptor dysfunction in patients with Usher syndrome and RP in order to gain a more complete picture of disease etiology, progression, and possibilities for clinical intervention. In addition, we also seek to demonstrate that cone photoreceptors are only dormant in Usher and RP patients and not completely lost. This finding in patients would confirm what has been observed in animal models and open up new avenues of research for the therapeutic reanimation of cones. The presence of dormant cones would that mean either preserving or restoring central vision in patients with late stage Usher Syndrome or RP is possible.

This new collaboration between the Chao and Sabesan Labs is an opportunity to test the feasibility of conducting these imaging studies in patients with a broad array of retinal diseases, such as will be possible in our new Retina Center at UW Medicine opening in 2018. This proposal is fundamentally distinct from the current efforts of both labs and is a natural next step in our pursuit to translate new therapies developed in the lab to new cures that can be administered clinically. With the results of this research, we intend to apply for federal NIH funding and other private grants in order to support continuing research in this new and promising area of study.

Budget
We have received initial funding support for this project from a Latham Vision Research Innovation Award, which was granted by the UW Medicine Department of Ophthalmology in August 2017.

 

With additional pilot funding of $25,000 or more from the Hear See Hope Foundation, we will be able to fund a portion of a salary for a research assistant for one year to aid in patient enrollment, image acquisition, analysis and interpretation of the data, and manuscript preparation. Additionally, these funds will be used towards the purchase of two new detectors that will allow us to acquire images of cone photoreceptors inner segments in Usher and RP patients.

We estimate that the full study will take three years to complete, with a total cost of $225,000. We envision this project as the beginning of a new field of research that will be ongoing at the UW Eye Institute and Retina Center. This funding will support the salary for a full-time research assistant ($60,000, including benefits) for three years, as well as provide partial salary for a clinical trials coordinator. It will also completely equip our current adaptive optics imaging equipment with the hardware needed to acquire images of cone inner segments or dormant cones ($30,000).

Thank You!
We are grateful for the past support of the Hear See Hope Foundation and we look forward to discussing this new proposal with you. Please feel free to contact Abbey Norris, director for philanthropy, at 206.221.8274 or abbeyn@uw.edu with any questions.

Thank you for your consideration of this request.

REFERENCES

  1. Sabesan R, Schmidt BP, Tuten WS, & Roorda A (2016) The elementary representation of spatial and color vision in the human retina. Sci Adv 2(9):e1600797.
  2. Wang Q, et al. (2015) Adaptive optics microperimetry and OCT images show preserved function and recovery of cone visibility in macular telangiectasia type 2 retinal lesions. Invest Ophthalmol Vis Sci 56(2):778-786.
  3. Tu JH, et al. (2017) Dysflective cones: Visual function and cone reflectivity in long-term follow-up of acute bilateral foveolitis. American Journal of Ophthalmology Case Reports 7:14-19.
  4. Du J, et al. (2016) Phototransduction Influences Metabolic Flux and Nucleotide Metabolism in Mouse Retina. J Biol Chem 291(9):4698-4710.
  5. Punzo C, Kornacker K, & Cepko CL (2009) Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of retinitis pigmentosa. Nat Neurosci 12(1):44-52.
  6. Wang W, et al. (2016) Two-Step Reactivation of Dormant Cones in Retinitis Pigmentosa. Cell Rep 15(2):372-385.

September 16 declared Usher Syndrome Awareness Day in Washington State

Washington State Governor Jay Inslee has proclaimed September 16 as Usher Syndrome Awareness Day. Washington joins a number of other states who observe Usher Syndrome Awareness Day on September 16. We spent the 16th filming our Hear See Hope Usher syndrome dance video, which will be available soon. It was a great way to spend the day. We feel truly blessed for all the families we met. Thanks again, Governor Inslee!

Kili Climb, logo

July 29, 2018: Kilimanjaro Climb for Usher Syndrome

Hear See Hope co-founder Todd McKittrick, his son, Cole, and nephew Tony, will join doctors and others committed to treating and curing Usher syndrome for a Mt. Kilimanjaro climb this summer. They hope to raise money and awareness of Usher syndrome.

“This is going to be a once-in-a-lifetime experience for all of us,” Todd said. His oldest son, Conner, and youngest son, Dalton, have Usher syndrome.

There will be several opportunities to watch the team’s progress via regular video blogs and other social networking updates. The climb is being filmed for a documentary, which will be premiered at an event a few months after it is completed.

Read more about the climb and all those taking part on our Kili site.

If you’re interested in joining us on our journey or want to donate, send an email to info@hearseehope.com.

Walking on the Via Francigena

Click here to make donate or make a pledge

From May 20 through 27, my wife and I will make a pilgrimage to Rome along the Via Francigena. This 10th Century pilgrims’ road stretches from Canterbury, England, all the way to Rome. That’s a long walk by modern standards – about 1,000km through France, Switzerland, and Italy – and would take at least two months to complete! So, we’ll pick the trail up in Bolsena, Italy, and walk about 140km to St. Peter’s Basilica in Rome.

This will be a spiritual journey for us, but it will have an added dimension . . . we are walking for a cure to Usher Syndrome! Inch by inch, we will carefully pick our way over rocks, ford small rivers, and sometimes cross busy roads filled with Italian drivers (maybe the most dangerous aspect!). We will walk for Usher Syndrome. Every step we take on this journey will help us MARCH FORWARD toward a CURE of the most common cause of deaf/blindness in the United States! All your generous donations will go only toward The Hear See Hope Foundation, an organization that is dedicated to raising and giving out funds to research institutions so that the cure for Usher Syndrome could be found. And 100% of your donation will go for research.

For a little bit about ourselves: Maggie and I have been married 32 years. We have four beautiful children who are now adults. Maggie is a retired special education teacher and I’m a retired software developer. And, by the way, I have Usher Syndrome. I was born deaf with profound sensorial hearing loss and experienced adolescent-onset blindness caused by retinitis pigmentosa, a symptom of Usher Syndrome.

Having Usher Syndrome is a lifelong disability that changes our body over time. I entered the world in silence, others experience the isolation more slowly, but we all struggle with hearing loss throughout childhood. Upon reaching adolescence we gradually lose our precious vision. Our peripheral vision becomes gradually more and more narrow, diminishing to only a few degrees. We see you and the rest of the world through a keyhole. We often stumble into people and things. Others are often perplexed and annoyed, because it seems we could see, so they ask why are we bumping into them? We fear darkness. When we step outside, nothing seems to be there except for a hand to hold, or a flashlight to guide our way. We fall more often than not. Staying balanced and walking a straight line pushes our vestibular system to the limits. The hardest part about all of this is losing our ability to communicate with you, our loved ones, and the world around us. Usher Syndrome affects so many!Is mise le meas! Maggie and Peter Devlin in the Pyranee Mountains.

With that said, we begin our journey with the hope that it becomes yours, also, and will make you that much more knowledgeable about Usher Syndrome. Your donations will be tax deductible and you can join us spiritually on our pilgrimage by following our blog at https://thedevlins.wordpress.com to “walk each step with us.” With your help, we hope to make a difference in helping to find a cure for Usher Syndrome. Won’t you help us Walk for a Cure for Usher Syndrome?

Click here to make donate or make a pledge

Is mise le meas,

Peter & Maggie

Classical Hands for a Cure, April 13, 2017

Classical Hands for a Cure

What: A classical piano concert benefitting Usher Syndrome.

Pianist: Kiera Daley

When: April 13, 2017

Where: The Old Rock Schoolhouse, Valdese, NC

For more information about this event or to learn more about the Daley family, please visit this page.

Click here to donate

Sensation 2017

Thursday, May 11, 2017

5:30-9:00 p.m.


Thanks to everyone who attended our 2017 Sensation Dining in the Dark event. It was a blast! Hosted at the Palace Ballroom, famous venue of renown Seattle Chef Tom Douglas, guests were treated to a five-course wine-paired meal while blindfolded. Sensation is designed to help raise awareness about Usher Syndrome, the leading cause of deafblindness.

Couldn’t attend but still want to donate? Click on the button below!

2016 Annual Hear See Hope Auction