Usher Conference 07.07.2012

Upon entering the registration section of the conference, we passed Sonia Desormeaux, from Louisiana, with www.eyeonjacob.org and her two sons. Her sons were not attending the actual conference because there was another area for the kids, but we were glad to meet both of them. After getting our name tags, we entered the room not really knowing anyone, so we took a seat at a back table since we were some of the last ones entering. Being that we had never been to one of these, we had no idea how many people to expect. I would say there were around 100 people if I had to guess. Not all of them having Usher Syndrome, but about half with it and half were family members of people with it. The minute I sat down and looked around, I noticed multiple seeing eye dogs and even more people with the “white cane”…. Whoa. I wasn’t exactly ready for all of that and I just started tearing up. It really hit Blair and me like a ton of bricks, and unable to hold back my emotions I had to leave the room for a minute to get myself together. I think this is the closest I have come so far to feeling how real this syndrome is. We were surrounded by it and there was no turning back. Once I walked out and had a moment to myself in another room, I was fine. It was just the initial shock of it all I guess. And I know Blair felt the same way, although he doesn’t always wear his emotions on his sleeve like I do.

Now I will try and sum up the conference as best I can, but forgive me if I jump from one note to another… I am going by the few things I wrote down coupled with my not so great memory of what was said that day.

Mark Dunning, head of the Usher Coalition, (who has a 13 year old daughter with Usher Syndrome) was doing the introductions, and he noted that his daughter fell down the stairs because she didn’t have the depth perception to be able to tell when to step down. This lead to them placing bright orange tape on each of the steps so that the people there with Usher Syndrome could tell when to step up and down. That in itself is just one very small affected area of someone with Usher Syndrome.

The first speaker was Dr. William Kimberling from the University of Iowa. This is where Eye on Jacob’s funding goes to research a cure for Usher 1C. Type 1 is the most severe form of the condition, and furthermore, according to Dr. Kimberling, Type 1C is the most rare of the 5 Type 1 cases identified, so its attention tends to get pushed to the back. Most of Type 1C is found in Louisiana. What I didn’t realize is that he pointed out the fact that 1 in 10 people walking the streets carry the gene for Usher Syndrome. Granted there are eleven different types and it’s not all 1C like Hunter has, but 1 in 10 people merely carry the gene. Now the fact that Blair and I both carried the defective gene and got married is the reason Hunter has Usher Syndrome, and there was only a 25% chance that he would get both defective copies of the gene.

Dr. Kimberling went into more depth about the part of Usher Syndrome that leads to blindness (retinitis pigmentosa, RP). It is caused by garbage that accumulates in the retina, and then damage occurs to the retina. This disease in the rod of the eye leads to loss of rod function which in turn leads to night blindness and tunnel vision. The vision loss part of Usher Syndrome generally starts in the teens, but I know of two families who have said it started around the age of 7 or 8 for Type 1. Although individuals with Type 1 still have very little vision, they are still considered legally blind once it gets to a certain point. He also touched a bit upon children with Usher Syndrome who have the Cochlear Implant and are being mainstreamed these days. (which is what we all want for our children) But the fact that in the past, all deaf/blind children went to schools for the deaf, all of the teachers there were abreast on the knowledge of what special accommodations were needed by these children. Including things such as the bright stairs so that children didn’t trip. These days with the Cochlear Implant, most children with proper therapy at a young age are able to attend mainstream schools. But these mainstream schools and teachers are not aware of the needs of deaf/blind children. They highly recommend children in mainstream schools to have a buddy, someone to help guide them around when they do start to lose their vision.

Let me also point out that a majority of the conference was talking about how important genetic testing is. Finding out which type of Usher Syndrome you or your child has will allow them to be put in categories for possible clinical trials and treatments down the road. Without knowing which type a person has, treatment cannot be given due to the very specific differences of each type. We are very lucky that we were able to find out at such a young age which type Hunter has. There was a couple sitting next to us with an 11 year old who was diagnosed only a couple years ago. And their diagnosis was not even a definitive one. It took 5 months to get inconclusive results back from the testing to say that it was Type 1, but they could not determine anything further from there. Their son was born with profound hearing loss, received CIs around 16 months and did in fact walk at a later age, around 21 months. But this couple was not even aware of Usher Syndrome, due to no family history of the disease. It wasn’t until a couple years ago that their son started losing his night vision that this became a possibility for them. Wow. Am I glad we found out that Hunter has Usher Syndrome at such a young age? Yes and no. But definitely more yes. I want to soak in as much knowledge as possible about this, and I want to fight it. And selfishly no, because it kills me seeing the real possibilities that Hunter may have to face. Mark Dunning and I have talked briefly through email a few times, but when I introduced myself to him, he said in his opinion, he does not believe that Hunter will have the vision problems that most people here do. We are at least 5 years out from this affecting him, and he truly believes by then that there will be treatments for RP.

There are things in the works right now for treatments. There is gene replacement therapy, there is stem cell replacement, and there is the Vitamin A treatment. But the only semi-promising thing to us right now is the Vitamin A treatment, and that in itself is still very controversial because only one proven study has been made to show that this can prolong the vision loss of patients with RP. So other doctors are very hesitant because there are not more supportive studies to prove this method. It can in fact affect other organs in the body, but these are all things that are monitored while the Vitamin A is administered. As I have said before, this kind of treatment cannot begin until at least the age of 6, so we have time to look into it all. We have time to look at all of our avenues. I can’t believe I am saying this, but we are lucky…. Simply because we have time.

There were other speakers who talked about progressive hearing loss and Usher Syndrome and about the Foundation Fighting Blindness. A lot of this is still over my head, but I thought I would tell you all about when Mark Dunning spoke about the Usher Syndrome Registry. This is where people with Usher Syndrome can go and sign up so that the Coalition can gather a listing of people with Usher Syndrome. So far, people from 21 countries have signed up. And the more people we can get to sign up, the more numbers we can get, the more of an impact we can have on the NIH to get funding for Usher Research. 1 in every 7,000 people have Usher Syndrome, and 45,000 people in the United States have Usher Syndrome. These numbers are leaps and bounds beyond other diseases that the NIH is giving $45 million a year to research for. If you are someone you know has Usher Syndrome, here is a link to the registry where they should sign up. https://www.usher-registry.org/

The final part of the conference was the family panel. This panel consisted of 3 people of various ages with Usher Syndrome, and one woman who has an 11 year old daughter who was recently diagnosed with Usher Syndrome. They were presented with different questions about how Usher Syndrome has affected them and their families, and more so their everyday life. To touch upon a few of the main points, I think most of the people up there missed their independence. They miss being able to do things for themselves and having to rely on other people for so much. I think the most interesting of all was Megan of The Megan Foundation, http://www.meganfoundation.org/. She found out at the age of 22 that she had Usher Syndrome. And today, 5 years later, she has a seeing eye dog to help her get where she needs to go without hurting herself or needing another person to assist her. She said it affects her life every.single.day. One of the main things that alters a person’s life with Usher Syndrome, is that driving is not a possibility for them when their vision gets to a certain point. So she said if it’s 7:00 at night and she needs to go to the store, she has to call her parents to come and get her to bring her to get whatever she needs. One of the questions from the attendees was whether she had “normal” friends without Usher Syndrome, and she said she actually only has one friend with it that she recently met. She went to college like every other person, she goes out with her friends all the time as well. But there are times that it gets difficult for her. Sometimes she doesn’t always catch the conversation going on and she chimes in too late when everyone is done talking if it’s too dark to read their lips. She has to have her parents drop her off at the bars to meet her friends, which isn’t the coolest thing. But she did mention that one up side is that she doesn’t ever have to be the designated driver J. They also asked if she wishes she would have known earlier in life. And she said yes and no. Yes because she probably would have worn sunglasses to help protect her eyes. She said she never wore sunglasses when she was growing up, and if that is something that could have prolonged her vision loss, then she would have done it. But she also isn’t sure if knowing would have prevented her from going to school for architecture and following her dreams of going to college and doing what she loves. She may have been more hesitant if she knew that she was going to lose her vision. So for that aspect, she is glad she was unaware at the time. She admits that there is fear of the unknown, but she tries not to let her affect who she is and what she wants to do with her life. There is a video in the about section of her website that gives a more detailed story of her life http://www.meganfoundation.org/about/.

I know I have put out a lot of random things about the conference, but all in all I am glad we went. Blair and I were able to speak with Sonia Desormeaux about getting her public service announcement around the Lafayette area for next year, and holding one of her Eye on Jacob fundraisers in Lafayette at a later date as well. All of her family and friends still remain here and have been wanting to help, so if we can put our connections together, this could be a massive fundraising event for research to find a cure for Usher 1C. Just that thought makes me tear up. So yes, going was worth it. And we may even decide to go every year to keep up with all of the new testing and clinical trials going on, and mainly to network with these families who are walking in the same shoes as us. It was heart breaking on one hand, to see what the effects of Usher Syndrome has done to many of the attendees, but it was also hopeful to know that so many people have come together with one goal in mind. And that goal is to find a cure. My goal is for my baby to be a part of all of this, and we will keep fighting until it happens. I will talk more later about ways we are going about trying to contact our Senators to get consideration from the NIH for funding… as I said I am still pretty new to this, but I am always willing to give it a shot!

Genetic Testing

I don’t really know where to start, so I will just say how all of this came about.

When Hunter was first born, we were referred to a genetic counselor who works for Tulane but comes to Lafayette once a month. His waiting list was months and months for an appointment in Lafayette, so we took a trip to New Orleans because we were able to get an appt there in just a couple of weeks. After going through my family history and Blair’s family history (which has no history of Usher’s), it was determined that Hunter had a 50% of carrying the Usher’s gene but never having Usher’s, a 25% chance that he didn’t even carry the Usher’s gene, and a 25% chance that he is carrying the gene and would in fact have Usher’s. At that time, we did not know any of the benefits to finding out if he had Usher’s or not. We were so overwhelmed with all of the information on hearing loss, that we thought we would pursue the Cochlear Implant (CI) for now, get Hunter’s eyes checked routinely by the only pediatric ophthalmologist in Lafayette, amd hope and pray and hope and pray that he never shows any signs of Usher’s…. but cross that bridge when we get there if need be. At that point, our main concern was Hunter’s hearing loss.

I am part of a CI group on yahoo. It consists of parents who have children with the CIs or are in the process of getting them. It’s an incredible means of communication amongst parents all over the world who are all going through the same thing. You can send an email to group, and within minutes you are getting answers and advice from other parents who have been there and done that. It’s absolutely incredible.

Well, a week or so before Christmas, someone emailed the group inquiring about their child who was born profoundly deaf (as was Hunter) who is also having balance issues (as is Hunter). Another mother, who has two older girls who both have Usher’s Syndrome, responded with the fact that 35% of babies born profoundly deaf with balance issues end up having Usher’s Syndrome. Now with the family history of my first cousin having Usher’s, it immediately was like a punch to the gut.

I had emailed one on one with this lady before when I first joined the group. She had reached out to me and is a huge advocate for the implants and auditory verbal therapy. So I decided to send her another email so that I could get more information on Usher’s. We emailed for a few days about it, but basically what she advised was to get Hunter tested by the age of 5 to find out if it is in fact Usher's. There is a condition called retinitis pigmentosa (RP) which is the part of Usher's that causes the vision loss. She said there is a doctor who has been studying the effects of prescribing really high levels of Vitamin A to kids with RP. Basically, the rods in your eye give Vitamin A to the cones, but if the rods are deteriorating then Vitamin A can't get to the cones. By taking higher doses of Vitamin A, more gets to where it's needed to prolong usable vision. This doctor's research has shown that this treatment can extend the years of usable vision by 20 years. The use of vitamin A is controversial, but the Foundation Fighting Blindness fully supports it and the research. A side effect of the high doses of Vitamin A are abnormal enzyme levels, so that would have to be monitored if given the increased doses. But there have not been any reported problems with severely abnormal enzyme levels.

With all of this being said, Mrs. Nancy with the LA School for the Deaf came for a play date on Thursday, and said she has seen babies without Usher's who also have balance issues. I guess you could say it is a toss up, but either way Blair and I would like to know. I think the fear of not knowing would just eat away at us if we didn't find out. Once again, with my family history it's just a good idea altogether to have this done.

I contacted the genetic counselor at Tulane, and he is coming in to Lafayette on Wednesday. He will speak with the lab at Women's and Children's Hospital to make sure they can send the blood work off to Harvard. Some hospitals are weird about who they have contracts with and where they will send the bloodwork. We will first start by testing for the most common strand of Usher's, and go from there. The most common one is known to come from Acadian/French Ancestory, so it was sort of a given to start with that one considering our heritage. He said if they can send to Harvard, they can draw blood the next round that they are in Lafayette, which is February 6th. They like to be there when it's done so that all goes right. Once sent off, it takes about 4 weeks to get the results, and they will schedule an appointment to deliver the news, no matter what the result may be. Their waiting list is still very long for an appointment in Lafayette, but he said he will see about pushing us up on the list for an appointment when the results come back.

I have been constantly reminded this past week how lucky we are to have been given Hunter. I did an inventory count of hats and wigs for pediatric cancer patients on Thursday. Sitting in that room and looking around made me so very grateful that our son does not have a life threatening condition. And for all of those who read the blog "EB'ing a mommy" and who are praying for Tripp, please continue to do so. Pray for peace for Tripp and his mother. The strength that mother has is truly inspiring.

So for now, as I said... we will continue to hope and pray and hope and pray... for peace in whatever the result will be. Because whatever it is, we will live through it. I know Hunter is going to accomplish great things in his lifetime, the boundaries he has overcome so far are direct results of his will to progress and succeed.

Oh, and as for the surgery. The hospital will file on Monday with the insurance company and (fingers crossed) once approved we can set a date. Ochsner's policy is to wait 2 weeks after 12 month immunizations to perform the surgery. So we are hoping for the last week in March. But I will let everyone know when we set a date. We will need many prayers and angels among us on that day :)