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Saturday, January 14, 2012

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 :)


  1. Hello! would you consider adding your blog on Deaf Village Aggegrator?

    Vivie - Deaf Village Moderator

  2. Thanks for posting this update. This is tough and not knowing is even worse. Your family is in my thoughts and prayers. I'm sure many people have said this, but Hunter is extremely lucky to have you and your husband. No matter what the results are, he is going to have a great advantage for the best opportunities with you as an advocate. I know it can be hard, and sometimes it feels like it is hard EVERY SINGLE DAY and you can't catch a break, but it is worth it. Keep up the great work at being a fierce momma for your little man. ;)

  3. Remember that, regardless of the results, there is much hope for children today with Usher Syndrome. So many of the top researchers say that they do not expect them to fully go blind because of the rapid pace at which research is progressing.

    Your comments about counting the hats and wigs for pediatric cancer patients hit home. The same day we got Rachel's Usher diagnosis, a classmate of hers from high school (They had just graduated two months before), who had been experiencing debilitating headaches all year, died from a brain aneurysm. It made us feel almost lucky. As I told Rachel, she has something this girl can never have, hope.

  4. The unknown is always hard and it sounds like you all are taking the steps you need to move forward and find answers. Aiden has moderate-severe balance issues (depending on the day) and now I wonder if we need to get him genetic testing for this too (he does have EVA, which some say you can't have Ushers with this and some say you can). How exciting that Hunter's CI surgery is approaching. Good luck with all the upcoming appts! Looking forward to hearing all about them.