Many of you often ask How are the twins doing? How is Ezra doing? Why does he need glasses? What caused his hearing loss? For those of you who may have missed this, we found out when Ezra was just over a month old he has severe-profound hearing loss in both ears. This past March we had an appointment at the U of M Lions Pediatric Hearing and ENT Clinic in Minneapolis. He had a few days/appointments of various tests which didn't tell us anything except for confirming that he is deaf. They took blood to run a DNA panel looking at 99 different combinations of genes. Bear with me as I am not a medical professional and may not use all the right terminology here. They were looking at syndromes and gene mutations that are associated with hearing loss. It can take quite awhile to get the results back and to get insurance approval for the test. While we waited for the results Ezra saw a pediatric neurologist for some development delays and to see if he had any thoughts since we knew Ezra was having vision issues on top of the hearing loss. He recommended physical therapy and waiting to see what the genetic test showed. We also began researching cochlear implants to determine if this was a route we wanted to take.
Fast forward five months later and we got a phone call from the genetics doctor from the U of M that answers most of the questions you have been asking along with us. Ezra has a rare genetic disorder called Usher Syndrome specifically Type 1D. There is a mutation in his CDH23 gene. Which means he has the most severe type of Ushers. Only about 400,000 people worldwide are affected by Ushers. So...what does this mean? Ushers affects hearing, vision, and balance. People with type 1 are born with severe to profound hearing loss. It also causes retinitis pigmentosa (RP). This is the reason Ezra wears glasses. RP causes gradual deterioration in the light-sensing cells in the retina. This results in night blindness first (could happen around ages 5-7) then it narrows the field of vision creating tunnel vision. Typically with Ushers Type 1 vision starts deteriorating more around age 10 into the teen years. Often causing legal blindness and possibly blindness later on. The vision can vary as to how fast it deteriorates and when it stops. The third area Ushers 1 affects is balance. People with Ushers 1 have severe balance issues because of vestibular dysfunction. As you can imagine this contributes to late sitting and walking. So we will continue physical therapy and he will most likely have occupational therapy to help with this. He should get there on his own time frame. He is an extremely determined little guy and is already tummy crawling all over the place!
Ushers is genetic but very rare. So this was just as much a shock to us as it was to the twins' birthmom. There was nothing she could have done to cause this or done to prevent it. She loves these two babies and is right here with us advocating for them both.
We have also decided that cochlear implants will be a way to help Ezra in the long run with everything he has going on. Cochlear implants are in a world of controversy but each person, each family is a different situation. I'm not going to get into the controversy over implants because that's not what this is about. We have prayed and discussed and researched for months and have peace that this is the best decision for Ezra. We've been learning ASL and will continue but know there is a big chance some day Ezra won't be able to see others signing. We have been blessed with an amazing deaf mentor who comes to our house and is teaching ASL to all of us and just walking this journey with us. We want to give Ezra every opportunity available to communicate and thrive. He will have bilateral cochlear implant surgery December 2nd at the U of M. Then after everything has healed we will go back December 20 and 21st to have the implants turned on. One side each day. We will have appointments at the U of M weekly for awhile after to gradually turn up the volume and fine tuning.
Please pray for Ezra and our family as we continue on this journey. It was a surprise and shock to us but without a doubt this little guy is an amazing blessing. There are going to be hard days and challenges but there are also going to be victories and so many blessings. As we've began to tell people about ushers they commonly ask "How are you doing with all this?" Honestly it depends on the day! Most days we're just living life with our four kids playing and figuring out what's for dinner. Some days are more emotional than others. Some days when Ezra looks up at me and his smile lights up his whole face as he makes eye contact with me I cry. I think about a day when that might not happen. But then I see Ezra for who God has made him. He is a shining light on hard days, his smile makes me melt and his laugh brings more laughter. His determination and strength already show through at ten months old. I've heard many therapists and doctors notice his determination already. So some day if he doesn't make eye contact with me I know we will bond in other ways. Like when I kiss his cheek and he laughs.
Pray for us as we try to find the right specialists for Ezra. Since Ushers is not common it is hard to find medical professionals who are knowledgeable. And all the appointments can be overwhelming as we see people for ears, eyes, balance, therapy, and ASL. We are looking at services to help him cope when his vision does get worse so he is prepared as he gets a little older.
I encourage you to learn more about Ushers especially if you are someone who is in our daily lives. Even if not the way to help find a cure and more medical help is awareness. Here's a great resource: http://www.usher-syndrome.org/what-is-usher-syndrome/usher-syndrome.html
The future may not be clear but I know God has great plans for this guy and he is already a light in our house. We didn't know anything about Usher Syndrome til recently, but God knew all along and He placed Ezra in our family some may say because Ezra needs us. I disagree, we will advocate and do everything we possibly can for Ezra but it feels as though We needed him. Each of our children bring different things to our family and I'm so thankful to daily see the gifts being Ezra's mom brings. My prayer is that Ezra will bring joy and light to others.