“Why I Feel Lucky to Have My Rare Disease”
February 17, 2016
Nearly one in every 10 Americans lives with a rare disease. That’s almost 30 million people dealing with a condition that those around them may know little, if anything, about.
Valarie Franklin understands this well—as a pharmacist and as someone living with a rare disease. Valarie was born with osteogenesis imperfecta (also known as OI and brittle bone disease). Her diagnosis doesn’t hold her back. In fact, in just a few weeks, Valarie and her friends—along with her service dog, Ryver—will celebrate her thirtieth birthday in Las Vegas. After all, she knows something about beating the odds.
Here, she shares what it’s like living with her condition.
Whole Health Blog: How old were you when your symptoms began?
Valarie Franklin: I was diagnosed at birth. They can tell a few different ways. With less severe forms of OI, they sometimes don’t know at birth. With mine they did and they have a few different ways of diagnosing.
They can tell from X-rays, to see if there had been previous fractures in-utero. The whites of my eyes aren’t particularly blue today, but for babies, they can be really blue. It’s a collagen issue. There’s a deficiency or an abnormality, depending on how severe the disease. Collagen is what makes up the whites of our eyes. And so, that’s why mine are almost translucent. They’re not normal, but most of the time, they’re not really impressive, either. I have pictures of me as a baby where the whites of my eyes are as blue as a kitten’s. So, that’s another way that they can diagnose. The long bones are often kind of curved. You can tell my left arm is not quite straight.
Up until I was born, my biological parents did not know that I had it, that there was anything wrong with me. They thought it was just a normal delivery. They decided to give me up for adoption because of the condition. They were young and really nervous about having a child with a disability. So, I went straight into foster care. My foster parents went to the same church as my mom and dad, and that’s how they met me. I was about 9 months old when I was adopted. I was really lucky.
WHB: You shared some symptoms you had at birth; what symptoms have you had since? I’ve heard that OI can cause some hearing loss and broken bones.
V: My hearing, I’m lucky, is normal. I had it tested years ago. A lot of people with OI have issues with their teeth. So these bottom front teeth are implants. The teeth fractured below the gum line and became infected. The oral surgeon wasn’t sure the implants would take. But the teeth had to come out. I was in pain. My other bottom teeth are really small and they don’t have dentin. Or it’s not normal and the enamel is really poor. I have a lot of dental problems.
WHB: Have you had many broken bones during your life?
V: More when I was younger. When I count breaks, I count them in terms of whether I was in a cast or not. In comparison to some people with OI, I haven’t really broken that many—maybe 20 or 30. Now that I’m older, I don’t have too many issues. Generally, if I have any breaks, it’s a rib or something that heals on its own.
WHB: So you’ve needed to wear a cast on some part of your body 20 or 30 times?
WHB: Did you ever get involved in sports?
V: When I was two, I wanted to be a football player because I knew they made a lot of money. I got over that. No, I haven’t ever played sports. I’ve done easy stuff, like playing badminton. For the most part, once I passed fourth or fifth grade, I wasn’t in the gym class with the other kids anymore. It was just too dangerous.
WHB: And you were born already having some broken bones?
V: Yes, they had already self-healed when I was born. Some may have occurred during birth. I’m not positive. I also have problems with my vision that is secondary to the OI. My corneas, instead of being round, are cone-shaped. The collagen that would normally hold the shape is affected, so the cornea is deformed. My right eye was getting progressively worse. The contact couldn’t even stay in because of the change in shape.
I had a corneal transplant in 2014 on my right eye. It’s a lot better now. Just in the last month, we finally got a contact that fit because the eye had healed enough that I can wear a contact lens again. And it’s amazing how well I can see. My left eye hasn’t changed much in the last three years, and I’ve been able to control it with contacts.
WHB: How does it feel to have a rare disease—something people don’t know or understand as well as, say, breast cancer?
V: I know this sounds weird, but I feel kind of lucky because if you have breast cancer, it’s possible that no one’s going to know you have breast cancer. You might be feeling awful, and people think that you’re just lazy. Having an invisible illness is sometimes a lot harder in a different way than having one that’s more physically noticeable. So, I’m thankful for that.
I have friends who have anxiety disorders or fibromyalgia or diabetes and things like that, and some of them have service dogs. People will ask them, “Why do you need that dog? You look fine.”
WHB: Tell me about your relationship with your service dog, Ryver. What does he do for you?
V: Ryver can open doors. If I have the strap with me, I can pull the knob and then he can pull the door open. He can pick things up if I drop them. He can bring me the phone. We’re still working on him bringing me my cell phone. Right now the phone that he gets for me is in a stationary place. It’s a lot harder if he doesn’t know where to look for what he’s trying to find.
He can help me brace while walking. He can climb stairs one at a time, up or down, so I can use him if there’s not a rail. And he can push the push plates that open accessible doors. Mostly, he helps me walk, retrieves and picks things up if I drop them. And he can go get help and find someone and bring them back to me. But he’s never had to do that.
WHB: Is he always “on duty”?
V: Whenever we’re at home, he doesn’t wear his harness. And he just gets to be a normal dog. But he will still do things if I ask him to. Yesterday, we were outside playing and I was a little worried; I was climbing the steps back in, to go inside, and they were kind of slippery. So I called him over and just used his collar and his shoulder to brace me and he was just standing there holding his tennis ball, wagging his tail, waiting for me to release him.
WHB: What are some of the rules for when you’re out and about? Is it OK for people to pet him when he’s working?
V: It depends on the situation. If I’m at a coffee shop, there’s generally not tons of people there. If I let one person pet him, I’m not going to be mobbed. But if I were at the grocery store or the mall, generally, it’s a no-touch policy. If people ask if they can pet him, I’ll tell them, “No, I’m sorry. He’s working.” You’ve got to be consistent. It’s more for me than it is for him. He doesn’t get easily distracted by people.
WHB: How long have you had him? Do service dogs retire?
V: I’ve had him five years. A typical working life is about 10 years. Ryver’s about 7. When he retires, I’ll keep him. He’ll just be my pet, and I’ll get another service dog.
WHB: Other than Ryver, who would you consider your greatest support?
V: My mom. She and my dad have always fought for me to have the same opportunities that other kids had, for things to be accessible for me. I wouldn’t be here if it weren’t for them. I love my parents. They are the best. I spend time hanging out with them watching TV downstairs. I still live at home. I lived by myself when I was in college. I could do it, but I didn’t like it. I just don’t like being alone. I was lonely. I had my first service dog, Sunny, with me, and that was probably the only thing that kept me going, that I had to take care of him. It was definitely more of a mental issue than a physical one because my apartment was a lot more accessible than my house is.
WHB: Do you have stairs at home?
V: Yes. My bedroom is upstairs.
WHB: How do you handle them?
V: I just climb them. I use a forearm crutch. We actually moved my parents’ bedroom this past summer downstairs because my dad has some trouble climbing stairs. We have a really old house. The floorplan is not open. We have a ramp. So I can get my wheelchair inside the house, but to actually use the wheelchair in the house, we have to move the kitchen table. So I really can’t use it in the house that much, unless I plan ahead. I’m in the process of trying to get a new wheelchair. This one is 11 years old. My last one, when it quit, it was about the same age. One day, it just didn’t turn on. I’m trying not to let that happen again.
WHB: How does OI affect your day-to-day life? Is it painful?
V: It can be painful. I probably already have arthritis. I used to take way too much ibuprofen, and I damaged my kidneys because I was taking so much. They’re fine now because I stopped taking it, but it’s pretty embarrassing when you’re a pharmacist and you have to go to a nephrologist and they ask, “So, what do you do?” I said, “I’m a pharmacist” and he said, “You should know better.”
More than anything, it’s just frustrating being short. I could move a lot faster if I were taller. Most of the time, it’s not too bad. I don’t know anything different.
WHB: How else does OI change the way you live, especially in the winter when it’s icy out?
V: This time of year, it’s difficult to get around. If I’m walking, it’s a lot more likely that I’m going to slip. Not necessarily on ice, but you walk into a store and people’s feet are wet, the floor’s wet. So I tend to rely more on the wheelchair than I probably need to, which means I don’t get hurt, but also means I don’t move around as much as I should. Plus, now by the time I get home from work, it’s dark out. Ryver’s bouncing off the walls when I get home. And we just play inside because if I took him outside to throw the ball, he’d lose track of it.
WHB: Speaking of your commute, how is your car set up?
V: My car has a power seat that raises me up higher and then I use hand controls, which are basically extensions on the pedals. What I’m doing is just using my hands to manipulate the pedals. They’re kind of like a joystick. They’re connected to the pedals. So when I pull back to accelerate, that pushes on the gas. When I’m pushing forward, that’s the brake. I wanted pedal extensions, but they weren’t crash-tested. So I was told, “No.” It’s annoying because I think it’d be nice if I could have both hands on the steering wheel all the time.
WHB: I’m curious about your tattoos. Can you tell me about one that’s especially important to you?
V: This is Ryver’s paw print, and this is my first Golden’s, my first service dog, Sunny. I stamped their paws on an inkpad and then onto a piece of paper. I like the idea of having something that is important to me a part of me.
WHB: What does it say below the paw prints?
V: This says, “Dear Golden heart of my life.” This says, “If you want him, come and claim him.” It’s from Lord of the Rings. Sunny was diagnosed with cancer and that’s when I got that added.
WHB: Why did you choose to go into pharmacy?
V: I wanted to be a vet. And I realized that that was something that was probably physically unrealistic. I’ve always been interested in medicine. I thought about being a doctor, but the idea of being in school for such a long time just didn’t appeal to me. I honestly don’t remember who or what got me looking into pharmacy, but we had to do a career exploration in high school, and I was that kid who was that overachiever and I needed a plan. I didn’t care if I changed majors later; I just needed something to go for in the short term. So I decided to go for pharmacy. It wasn’t until my first or second year of pharmacy school that I realized what I was getting myself into and that I really liked it.
WHB: Do you think your history dealing with doctors and nurses had anything to do with your interest in medicine?
V: Probably. I was always, even as a little kid, self-aware. Recently, my mom has been handing papers down to me, saying “They’re yours. You take care of them.” So I’ve been reading chart notes from doctors from when I was about three years old saying, “Valarie self-reported that her mom gives her decongestant for her stuffy nose and medicine for her fever.”
When you have brittle bone disease, you have to be at least able to speak up for yourself. If I were in the hospital or at school and someone went to pick me up the wrong way, I needed to be able to tell them not to because they could hurt me.
WHB: What would you say to someone just diagnosed with brittle bone disease or to a mother of a child just diagnosed?
V: That their child will still have the same opportunities that every other child has, just with some changes. And not to be afraid of letting them explore that.
To learn more about rare diseases, visit rarediseases.org.
The information herein may not be construed as medical advice. The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. It should not be used as a substitute for professional diagnosis and treatment. It is best to obtain medical recommendations from your physician.
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