Her Story: In 2004, I was having horrible back and leg pain. I saw several doctors and they all said I would have to live with it. It got so bad, I was basically in bed for about a year before I finally found a doctor in Minneapolis that could help. He found that seven of my discs were ruptured and leaking, so we scheduled a very large back surgery on February14, 2005. I had 18 discs in my back fused together with titanium rods and donor bone to replace the 18 discs that were removed. It was a struggle to get used to not moving like before and the hardware kept coming loose. After 6 more surgeries, my back is doing very well today.
Then, on my birthday, in 2008, I was waiting for a spa treatment at Spa D’ Athena and admiring the wavy candles in the waiting area. When I went closer, I realized they weren’t wavy. I thought maybe something was wrong with my contacts, but even after I switched them out, my right eye was not working properly.
My eye doctor told me to come in right away and after many tests, they found I had bleeding on my retina. They tried a laser treatment, which didn’t work. The next option was an injection in my eye. That worked, but I had to do it every month and they could not figure out why it was happening. After about a year, I asked to be referred to Mayo, but after several tests they did not have any answers for me, either. I left there very frustrated.
Another year goes by and after many injections my eye is not getting better. My doctor suggests I go back to Mayo, but again, I left with no answers.
In 2010 my retina specialist, Dr. Grube, was transitioning to a new practice and said I could not go without injections for a couple months. He sent me to Dr. Mason in Fargo – by then I was having bleeds in both eyes. The plan was to have an injection in one eye, spend the night and then inject the other eye.
So I went in to see this doctor, a very nice older gentleman, and he said, “Hmmm, retina bleeds. Do you have any weird disfiguration of your skin or some sort of rash on your elbow, behind your knee or neck?”
And I said, ‘I do! I have this chicken-looking skin on the back of my neck.’ I had noticed it about fifteen years ago, but never had it checked because I just figured it was because I was getting older and skin does crazy things. It never hurt or itched, nothing.
I showed him the spot and he said, “You have pseudoxanthoma elasticum. Not very many people have it, only about 1 in 100,000.”
He also told me to Google it. How many doctors will tell you to do that? I got back to my hotel room and called my family, crying, I was so happy to finally have a diagnosis after all these years.
Then I Googled it. That’s when I learned I will probably go blind. PXE can also cause heart attacks and strokes. Arteries may calcify, causing decreased blood flow in the arms and legs or even the heart and brain. It affects everyone differently. After reading, I was scared, but also relieved because I finally had some answers.
I had a biopsy which confirmed the diagnosis. The disease is a genetic disorder. Both of my parents have the gene, and when it comes together it can cause PXE.
I also found a support group, PXE International. It just so happened there was a conference in Washington, DC that year, so my mom and I flew out there. It was amazing. When I got there they gave us a book that listed the number of diagnosed cases in each state, and North Dakota has eight. One of them was going to be at the conference, and when I met her and it was like finding a sister I never knew I had. I could finally talk with someone about what was going to happen to me.
I was still an emotional wreck when I got to the conference. I had only been diagnosed three weeks prior. And then seeing people with their blind canes and walkers was really devastating. I left there with a lot of answers, but not good ones, because right now there is nothing they can do except treat the symptoms.
I have had a lot of things go wrong. When I was first diagnosed I was wondering why my legs were hurting so bad. They started injecting my sciatic nerve area, then cauterized the nerves in my legs. That worked really well. I was also hospitalized with gastric bleeds.
The week before my daughter’s graduation open house, last June, my fingers (in my right hand) began throbbing like they had been slammed in a door. I wanted to get through the weekend and then I would get it checked on Monday. My fingers started turning blue while we were decorating, but I made it through the weekend.
When I went in they sent me down for an angiogram. It showed that I have no arteries from my elbow down. Apparently the arteries had already calcified and I needed to get to Mayo right away or I could lose my hand.
The first surgeon I saw told me he couldn’t help me and I would lose my fingers in about two weeks. Then, while waiting to have a test done, that same surgeon came in and said he had talked with a hand surgeon who thought he could help me.
This new surgeon planned to take an artery from my thigh and run it from my forearm to my hand to get the blood flow going. They needed to start me on blood thinners, but they were worried that would cause my eyes to bleed more. There was a moment where the eye doctor and the hand surgeon were ‘professionally’ arguing about who is going to save what. The blood thinners would cause my eyes to bleed and I would eventually go blind, but I would lose my hand without the surgery. They ended up throwing it back at me. I called my doctor’s office back in Mandan and they said they would work with me on my eyes and I should save the hand.
Before the surgery they did another angiogram and discovered I have no arteries in the other forearm either. They also found, from the knee down, I only have one artery that works and I am supposed to have three.
Since my arteries and vessels were so small they could not do the surgery. They decided to try hyperbaric oxygen treatments, botox injections, high blood pressure meds and blood thinners. Between everything they tried, the color began coming back to my hand. It was a miracle.
However, since my disease is so rare, and there are not enough studies to show what works, insurance was not covering the cost of these treatments. I was having two hyperbaric oxygen treatments a day and they cost $2000 each time. And, I really felt amazing while I was in the chamber. The blood would flow and relieve the pressure on my fingers.
They ended up sending me home with an arterial pump, it looks like a blood pressure cuff and I wear it at night. It pushes the blood flow to my fingers. I haven’t had any problems in my other arm yet.
They tried taking me off the blood thinner, but I ended up in the emergency room where they found blood clots behind my knee and in my lungs. So, I am back on the blood thinners, both my eyes keep bleeding and the vision in my left eye is almost gone.
I went to the PXE International convention again in 2012 and there was an opportunity to sign up for a study. It is a two year study that began in January of 2013, and requires many trips to New York for testing. Results won’t be available until 2015, but anything I can do to help is worth it. I may not see the change myself, but hopefully it will help others. There is also a lot of stem cell research going on.
I wish we had more knowledge and education about PXE. I wish they talked about recognizing the skin condition in medical school, even beauty schools. There are so many diseases that aren’t getting the research they deserve.
It has been very hard on my family to see all the changes, the ups and downs, but they are very supportive. I just pray to be able to see my children on their wedding day and I want to see my grand babys’ faces. I am thankful for everyday that I still have vision in my right eye.
I love to keep busy with decorating, scrapbooking and hanging with my family. I volunteer for Make a Wish. It helps to keep my mind off my own problems when I am busy helping others.