January 22 2019

Today was an enlightening but bittersweet one...

There has been lots of talk on various Usher groups about different genetic testing and the new Luxterna gene therapy that has been a result of the discovery of a successful therapy for the RP65 gene.   This therapy has resulted in some restored sight in patients in the clinical trials and has been FDA approved.

There has also been the creation of the Usher Syndrome Coalition and for genetic testing- Project Usher.  In these discussions, the discussions brought about the distinct changes in testing over the last 20 years.  I had given a sample to Boystown Research soon after being diagnosed in 2001 but had not heard any results from the two places that samples were provided to.  Thus with the advancements in genoma geneticist e sequencing and such, I felt it would be worth reaching out to my family doctor to see if the testing through Project Usher was worth pursuing.  My doctor has been phenomenal all these years in supporting us and working with a diagnosis of Usher Syndrome and she didnt fail yet again.  .   She sent a referral to the Medical Genetic Clinic and an appointment was scheduled for this morning to have a consultation.

It was informational and encouraging.  I was asked to fill out a family history form- which I gave my parents names, DOB, DOD (if applicable) list all of their parents, siblings, nieces/nephews and any family "traits" and common medical information.  It asked about all kinds of medical history, traits, and other things for me and so forth.

We met with a geneticist and went through my history of being deaf from birth, when my vision loss set in, and how I was dx'd with Usher Syndrome. She talked with us at great lengths that it would mostly likely be a dx of Usher type 2 or 3, given the later onset of vision loss.  She explained that they work with a lab out of California that does clinical testing, not research testing.  Thus we would receive an answer and most likely confirm a diagnosis for sure.   We further discussed the theory that the mutation had started with myself, given that in my family that there is not any known history of deafness or blindness for my parents, my grandparents, or great grandparents.  She explained that with a genetic recessive trait and with advances in genetics, it has been seen to skip 4-5 generations.  So that was a new concept for me to learn today.

She also explained that with my clinical symptoms that it will likely be a dx of Usher type 2 and that while rare, Usher is one of the more common genetic conditions seen today so the research has significantly changed in the last 5-10 years and that what some sub types had been in the past have been re-categorized now to new sub types and that the testing much more accurate today.  She inquired about my balance and I said that I didn't feel that I had balance issues from the RP, but that it was due to the lost of depth perception and vision, of which she agreed.

We then went over the goals of pursuing genetic testing, whereas for me is to determine the type of Usher Syndrome that I have for my personal knowledge and to have this information for my children for when they begin to start their own families.   And the last goal is to determine if there are any clinical trials or gene therapies that I would even possibly be a candidate for RP65/Luxturna gene therapy.  She explained explained that from what she could tell, it seemed that the RP65 gene therapy only pertains to patients with Macular's degeneration- given the gene that it is tied to.

We then discussed the cost of various forms of genetic testing and if there is any chances of it being covered by insurance.  Working with the Medical Genetic Clinic would be on a clinical basis and that a pre certification would be attempted with my insurance and that if it does come down to not being covered, then the Lab and Clinic both work with the patient to make genetic testing feasible.   

She went on to encourage us that the samples that had been given years ago, to the research projects in the past have given definitly lead to advancments and the  knowledge to find the genes that are known to cause Usher Syndrome and a wide variety of alleles on those genes that cause the different sub types of Usher. She then took all of my information and then met with Dr. Torres-Martinez.  He went through things and recognized that Mike and I were knowledgeable about the basics of genetics and Usher Syndrome being a genetic recessive trait, realizing that this means our children are carriers.

He explained that they would do the gene sequencing and sub sequencing to obtain a definite diagnosis.  However, we will wait for the pre-approval process first, which takes about a week and added that it typically about 3-5 weeks for the results to come in.  The geneticist returned and explained that she will call next week with the information and that if we wish to proceed, she will then send the a cheek swab test test kit directly to my home.  It will come with the packaging and shipping labels to send directly to the lab and it will start the ball rolling.  Once the results come in and as long as they come back positive for Usher syndrome, then we will come back in for an appointment and discuss the inheritance patterns and what it means for our children and so forth and if there are any clinical trials that my type would be relevant for.

We explained to her that I will be leaving next Monday to go to GDF for 2 weeks, but that she could communicate with Mike on the details and move forward from there.

Mike and I left and I had an appointment to pick up  the new hearing aid mold we had made up on the north side of Indianapolis.  I have  been preparing for the upcoming training as it's hard to believe departure is only a few days away.  We went up to Castleton Mall to look for some waterproof hiking/walking shoes for me.  This mean we made a trek across the mall and back before heading to the appointment and it was here that I realized how much it is truly time to retire Boomer.  It wasn't crowded but he was showing signs of being stressed and he kept turning his head to he left and would begin to veer to the left as he seemed to be turning his head to see better.   He kept his pace with following Mike so it was at a pretty good clip.  Made our rounds to the appointment, of which my audiologist loved on him and said goodbye to him as we talked about his working life some and the changes over the years.

We grabbed a bite to eat at Chipotle as we were both starving and Boomer crashed under the table.  Heading on home, there was a message from my trainer, Christina, with a call to talk about the plans of the two weeks and pick up information from La Guardia Airport.  As I sat here on the phone with her and Boomer was zonked out for several hours- not even being insistent for his dinner at 4pm as he normally is. The realization that today was really his last day working was quite a bitter pill to swallow.  It is hard to let him go but it's definitely the best thing for both of us. He is finally starting to come around and listen to the kids more as well.   

He woke up about 5pm and gave a big yawn and stretch and came up and laid his head on my lap and looked up at me in those big brown eyes.  Alex went and fed him and let him out and all was right in his world again as it should be and with that, let the spoiling as a pet begin.

Love you Boom Dog, my golden fluff ball