At Caleb’s 4-months check-up last August, I was answering the doctor’s questions about family medical history, and I told him about my diagnosis- Usher Syndrome. His response was, “What’s that? I have never heard of that.”
Many doctors I have seen have never heard of Usher Syndrome. Because of this, a thought came to me that I should write a post about it, but being a busy mom I brushed the thought aside. Then one night last week, I woke up the middle of the night with a strong feeling that I needed to write this post now to help raise the awareness. So here I am.
What’s Usher Syndrome?
There are three different types of Usher Syndromes. I have Usher Syndrome type 1C. It’s a rare recessive genetic disease that causes profoundly deafness at birth, progressive vision loss (retinitis pigmentosa), and balance issues.
Two years ago, I wrote a post about my deafness and cochlear implant. You can read it here.
But this time, I am going to talk about my vision loss.
What causes vision loss in Usher syndrome?
The retina is a tissue at the back of the eye that is needed for vision. The gene mutation in Usher syndrome affects the retina’s light-sensing cells called rods and cones. This condition is called retinitis pigmentosa or RP.
In RP, the retina’s light-sensing rods and cones slowly go bad, starting at the outer edges. As RP gets worse, the person loses peripheral (edges) vision first then central vision.
The images below are actual pictures of my retinas. The black dots are the dead cells.
How vision loss affected me now
My vision loss didn’t really affect me much until last August when we moved to Utah from Texas. My husband and I went to my yearly eye doctor appointment where I’ve received my most dreaded news: it’s now illegal for me to drive.
It was definitely weird the first couple weeks of not driving. I went through that cycle of shock, denial, etc. It felt like a jail door fell down abruptly keeping me inside. It sounds so sad, but it’s true! Haha. I had to revolve my life on others like waiting for my husband to get home to go to the grocery store or seeing if a friend is available to pick me up to go somewhere. My sense of independence dropped a lot.
It’s crazy how big driving is part of our lives. Even, my three-year-old immediately saw the change.
A month after the change, Jordon was driving us somewhere in the car, Mackenzie started this conversation:
Mackenzie: Daddy, Mommy can’t drive anymore.
Jordon: Yes, you’re right.
Mackenzie: Yeah, she’s done driving because she drove a lot and a lot and a lot.
And that’s true. Last three years, I took her out almost every single day because I love getting out of the house. I would take her to places: playdates, library, shopping, etc. Even back in high school, I was the driver. I drove my friends to dance practices every day. I drove my friends to lunches. I drove from Utah to Boise during my college years more than I can count.
And all of that is over, and it hurts. I think what hurts the most is my kids. I want to be the mom who can take them around wherever they want/need to go. There are some days that Mackenzie asked, “Mom, can’t you just drive?” My heart just breaks for her.
In another conversation, she said:
“Mom, when I am a big, big, big girl, I can drive and I will drive you around.” I love that girl. 🙂
After almost six months of not driving, I am used to this kind of life and I am okay with it.
What I learned from this trial
- I have a perspective on what really matters in life. I have a beautiful family. I have the knowledge of the gospel of Jesus Christ. I can still see the beauty of the world. I can still enjoy my hobbies. I can still be active. People, there are so many blessings!
- You’re in CONTROL of your own happiness.
- Let people serve you! It is hard for me to ask people to drive me around. I feel like I am a burden! But I have to let it go and let them help. And I am so blessed to have wonderful friends and family close by to help me out.
- There are hard days, and it’s okay to feel sad sometimes! I learned that time is the answer. As time goes by, it gets easier. Slowly.
- Everyone has hardships. Some are more visible than others. But everyone has hardships hiding so be kind to everyone.
FAQ- I love when people ask me questions! It makes me feel like they care. I don’t want people to ever think it’s too sensitive to talk about this topic.
Do you wear contacts or glasses?
I get this question A LOT! The answer is no. I do not wear glasses or contacts. My husband has contacts and I am SO glad that I don’t have them. haha. The funny thing is that everyone in my family wears contacts/glasses, but me. My distance vision is great! Just losing it.
How did you find out about your diagnosis?
This is a funny story actually.
I’ve always adored my older sister, Suzanne. I wanted to be just like her. When I was 9 years old, I really wanted glasses. Like Suzanne at the time. So, I lied to my mom by telling her that I couldn’t see the board in the classroom at school even though I could. Like any good mom, she took me to the eye doctor. I lied on every single exam… haha. The doctor ended up dilated my eyes to look at them more closely. He discovered several black dots so he recommended us to go up to Portland Oregon to see an eye specialist. I remember thinking, “Ah shoot, I shouldn’t have lied!” But it turned out that it was a good thing I lied.
Long story short, we went up to Oregon and that’s where they diagnosed me with Usher Syndrome Type 1C.
Do your kids have it?
Usher Syndrome is a recessive gene, so Jordon has to carry it to pass it down. It would be CRAZY if he does because it’s so rare. It’s a .01% chance that my kids will get it. Thank goodness. Some of them will be carriers of the gene though.
Is there anyone in the family has it?
Nope. Just me. I’m the lucky one.
Is there a cure or a treatment?
No. But there are all sorts of research going on such as drugs to stop the vision from getting worse. There’s also research in genetic therapy. They’ve done an experiment where they reversed the gene of a mouse that has Usher Syndrome. Pretty cool.
On July 18, 2018, a bipartisan bill titled the Faster Treatments and Cures for Eye Diseases Act was introduced into the House of Representatives (H.R. 6421). This legislation allows for the creation of new financial instruments called “Eye-Bonds” which will provide $1 billion of new funding specifically designated for treatments and cures of all causes of blindness and severe vision loss. These funds would be backed by a limited federal guarantee. Given current federal deficits, this guarantee has been carefully constructed to ensure that it works for all of us and would not increase the budget. This will encourage badly needed funding for Usher syndrome research at universities, private labs, etc.
There are a lot of cool technology are coming out like special glasses, self-driving cars, and who knows what else.
How am I handling it through the difficult times?
When it was time for me to stop driving, it was a lot harder than I thought. Sure, I have the deafness thing going on, but I’ve had this issue since I was born so I don’t know the difference between having normal hearing and hearing with the cochlear implant. But with the vision loss and not being able to drive, I know what I am missing. So I thought to myself, “Okay, how am I going to do this?” Then a thought came to me, which was, “Stop feeling sorry for yourself, and keep living your life to your fullest!”
And I am. I love life. Sure, there are hard days, but that’s normal. We all have hardships in life in different ways.
Here are some of my tips on how to be happy.
- Find joy in simple things each day. Like… pumpkin candles, kids’ laughter, a good book, running, chocolate, gel pens, blankets, hot chocolate (as you can tell, I love chocolate, haha). The list goes on!
- Reach out and be a friend to someone
- Count your blessings: I have the cutest kids (I may be biased), a wonderful husband, a nice home
- Learn new skills and maintain hobbies
- Don’t compare. Don’t even think about it. Don’t go there. Not freakin’ worth it. All it does is stealing your joy.
- Have a relationship with your Heavenly Father. Pray. Go to church.
Remember, you’re in CONTROL of your own happiness.