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Wednesday, January 25, 2012

Simple Facts

Happy Wednesday everybody!

I just wanted to give you all a few updates.... Last week our genetic counselor went to Women's and Children's hospital while he was in Lafayette to see if we could get Hunter's blood work drawn in Lafayette rather than having to drive to New Orleans. He called on Thursday to let us know that they do not have a contract to send blood work to Harvard, but that they would review his case and possibly make an exception. If not, we will just have to bring Hunter to New Orleans to get the blood drawn. Easier said than done during tax season! But beggars can't be choosers, we will make it happen!

Today we had a regular checkup with the pediatric ophthalmologist. He just checked his prescription and all looked great! He also said he didn't see anything abnormal with the retina, which is great! Even though signs of Usher don't normally show up until closer to the age of 10, on average. We told him about our decision to have genetic testing done, and asked if there are any retinal specialists in Lafayette. He said there are a few, but there is one who deals with babies more often who he would refer us to if need be. It was almost like I didn't skip a beat talking to him about Usher Syndrome. And it's not that I'm convinced he has it, but I thinking knowing we will have a game plan in case he does, makes me feel better. For the time being at least...

Last week we also saw our special teacher and OT. Our special teacher said it seemed like all of her babies were at a standstill as far as progress is concerned, but that Hunter was her student of the week! Yay! He was crawling all over and pulling up on everything. He may not have the best balance to stand up yet, but he sure has the guts to try it! He and our OT were on our kitchen floor exploring all kinds of new things. She was raving over how well he has done since she started working with him, and he deserves all the credit!

Monday, January 16, 2012

Milestone Monday

Check out what Hunter gave Mommy and Daddy on their 2nd Wedding Anniversary... we know this is going to change our world, but we couldn't be happier to have a little mover on our hands. All of your hard work has paid off H, we love you!

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 :)

Sunday, January 8, 2012

Baby Steps

Hunter has been working very hard at sitting up and keeping his balance. Well Friday night we went out to dinner for Blair's birthday, and we brought along our cart/high chair cover to put on the high chair in case Hunter decided to start throwing his head back. We no longer have the carrier car seat since Hunter is too long, so it was either hold him or try the high chair. Here is a small video we took that Blair suggested I post to the blog, and I agreed. This is a huge step for Hunter. I think we both mainly sat at dinner staring at Hunter with a grin from ear to ear because we were so excited he sat content the entire time, and did not throw back once. (puffs always help the situation too!)