You've met all of the current Board members, so over the next few months we're going to introduce you to some other key players in the Network. Our first interview is with Sally Cihos, who has been a recurring donor to the Network, and recently made a substantial contribution that will help to ensure that we can continue to provide education about XLH and offer information and support to XLH patients and their families. If Sally's story moves you, we hope you'll consider making your own donation, which you can do at http://xlhnetwork.org/index.php/donate/
1. How did you become involved with the Network?
I became involved with the XLH Network in 2011 because I was (and still am) having trouble with my left hip. I searched online and eventually found “Hip Talk,” an online support group. It was there where I met Delynn Shelton. We exchanged a few emails and discovered that we had similar symptoms and experiences. She was the person who told me about the XLH support group. I think I joined soon after learning about it, but I was a pretty silent member. So I give Delynn (“Hi!”) all the credit for leading me to this wonderful group!
I have a long history of bone deformity/fractures and dental issues. I was a “chubby” baby and weighed 30 pounds at nine months! I walked very early and had much bowing which was blamed on the weight. I had many cavities as a child and eventually root canals and crowns/bridges starting in my teens. My four siblings have none of my problems and I was very self conscious about my bowed legs and waddling gait beginning at around age 10.
When I was in high school I had a skiing accident and tore the medial cartilage in my right knee. I had open knee surgery 10 weeks before my high school graduation. After surgery I was told I had permanent damage in my knee and I would be in a wheelchair by the time I was 30! But the doctor never told me “why” and no one asked.
I remember that day as if it were yesterday and yet I never dwelled on it or really even thought about it much for many years; life went on and, besides, I was never, EVER going to be THIRTY! And so, during the next 50 years I had shoulder surgery, hip surgery, five more knee surgeries, eight nor nine stress fractures in my feet/legs, 23 crowns, twelve root canals (and 2 root amputations), and increasing spinal stenosis and crunching everywhere from the loose bodies, spurs, and calcifications. Probably all too familiar to most of you!!!
Even with all of that, the road to diagnosis came very late for me. I had low serum phosphorus for many years (1.2), the waddling gait, the dental issues, deformity, pain, etc. In 1997, after repeated stress fractures in my feet, my local podiatrist suggested I see a young sports podiatrist in Palo Alto, who had an interest in metabolic causes of fractures. The sports podiatrist immediately suspected hypophosphatemia. He referred me to an endocrinologist at Palo Alto Medical Foundation, who then sent me to another endocrinologist Stanford, who was considered an expert in Vitamin D metabolism. I started on the K-Phos and Calcitriol, but I didn’t stick with it because I didn’t feel any better and it did not improve my serum phosphorus level. I didn’t understand that the goal was not to necessarily increase the measured phosphorus level. In 2001 those three doctors published a paper about me in the Journal of Foot and Ankle Surgery, tho I didn’t learn this until I returned for treatment 12 years later.
By 2013, I thought I was finally ready to have hip and knee replacement surgery. Because I had learned through the (XLH) Network that the treatment I had abandoned could/would be of benefit to me, I returned to the endocrinologist to resume treatment. He ordered imaging studies and blood work before restarting treatment. My scan was on a Friday and my endocrinologist called me with the results that Friday afternoon at 5:30PM. As it turned out, I had early stage kidney cancer (presumed benign lipoma, but carcinoma upon biopsy) and a HUGE (suspected cancer, but benign upon biopsy) ovarian mass! Two fearful weeks later, after a series of tumor marker tests and pre-op screenings, I had two surgeons and a robot fix me up at Stanford. I now have annual screenings of my kidney and a half, as well as my pancreas because my only aunt had pancreatic cancer and I have a slight abnormality (duct size). I am again taking Calcitriol and K-Phos and again I am not really feeling any better, but I feel that I am doing as much as I can to prepare for the eventual joint surgeries. I am still very active, but no longer walk 20-25 miles a week plus Jazzercise 4 times a week as I did 10, 20, 30 years ago—moderation is key as I approach 70 (GAG!). I do miss my youth, but I am learning to be content to enjoy the young lives of my two daughters, seven grandchildren, and one great grandchild. Remarkably, not one of my descendants (or my siblings’ children) has inherited my condition, for which I am VERY grateful!
2. What motivated you to make a financial contribution to the Network?
I was motivated to donate to the Network because I wanted to give back to an organization which very well may have saved my life! I most likely would not have sought to go back on the meds had I not read the discussions on the Listserv; there were many personal stories about the benefits of the Calcitriol/K-Phos treatment, even with no measured improvement in serum phosphorus levels.
The Network has helped me to further understand the condition and realize that I am not alone. It was so powerful (especially being a spontaneous case) to actually meet with others for the first time (at Yale in New Haven)!! And the 2015 event in Novato, California, was even better attended and was really fun and heartwarming. I am very impressed by the Board’s dedication and success and they have added a lot of enthusiasm to the organization! I hope we can continue to attract and enable members to attend future events for education and camaraderie.
3. And finally, what is your superpower?
Well, after all of this yakking, I guess my superpower is that I can talk a lot. I love people and am generally outgoing, but I avoid public or group speaking and/or being the center of attention. I’m more of a behind-the-scenes ordinary person with an often irreverent/wacky sense of humor, quick wit, and unrelenting curiosity.