Wednesday, June 24, 2015

Meet a key donor: Sally Cihos

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

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.

Wednesday, June 17, 2015

Travel jitters

With summer vacation time rapidly approaching, you may be feeling anxious about the physical challenges of air travel. Guest blogger Andrew Shortall is here with some tips and anecdotes.


“I’m sorry sir, would you step over here, please?”

These are probably some of the most dreaded sounds and words for an XLH’er but I’m here to tell you they don’t have to strike fear into your being! I've been travelling internationally for many years. Being Irish, my osteotomy implants have almost always set off the metal detectors in Dublin airport. And when questioned, I explain that I have surgical implants in both my legs. A mere wave of their detector wands and seconds later, I'm free.

The most personally invasive experience was in Chicago O'Hare in 2009 when I was returning to Ireland. Naturally, my appliances set off the detectors and I was called aside by a very kind and respectful gentleman of what is now the TSA. I mentioned the metal, and he asked me to follow him a few paces to a small, private room. He asked me if I minded showing my surgical scars, which I didn’t. But really, how in the world can I hide them? I rolled up my pants legs and showed them to him. And to be quite honest, it was HE who was more embarrassed at having to ask.

And that’s why you don’t need to be afraid. The TSA and their counterparts around the world understand that millions of people have surgical implants, be they joint replacements, skull plates, or in our cases, plates and pins. Personally, I view my scars and metal as trophies. I won them on the hard road through my treatments. I don’t feel self-conscious about them now, as they have been a part of me for a long time. And I’m proud of them!

Finally, as summer rapidly approaches, many of us will choose to take a vacation and fly to our destinations. I’ve looked through the TSA website, and I’m impressed with how accommodating they are, even with today’s need for such increased security measures. While their primary concern is safety and security of air passengers, they also focus on passenger comfort, respect and dignity. Here are some helpful links:

This page is the launching pad for medical and disabilities information:

Here you’ll find information most suited to XLHers:

This page provides advice for anyone with limited mobility:

In all cases, you need to speak to the TSA at least 72 hours before your flight. This will make their job easier, and will help reduce your stress and worry about the checkpoints. It’s also highly recommended to speak to your airline, as they will provide mobility assistance upon your arrival at the airport, and throughout your flight, should you need it.

And while this post is written primarily about the USA, I know from personal experience that similar procedures are in place around the world. Speak to your airline, and the airport authority well in advance of travelling. They’re all there to help!

Wednesday, June 10, 2015

Expanded pediatric clinical trials

The expanded pediatric clinical trials for KRN23 are recruiting NOW!

Here's the link to

Note that this is happening in a number of countries, not just in the U.S. There are locations in France, the Netherlands and the UK.

As always, The XLH Network, Inc. does not endorse or critique specific clinical trials, and does not counsel individual patients either for or against participation in any specific clinical trial. Prospective volunteers should always carefully review the clinical trial's informed consent documentation, and discuss the pros and cons of their participation with trusted advisors, including their health care providers and family members.

Wednesday, June 3, 2015

Meet the Director: President Becky Mock

1. How did you get involved with the XLH Network, and then how did  you become a member of the Board of Directors?

It was only by chance that I learned that the disease that was common in my family, hypophosphatemic renal rickets was also called XLH and that there was a patient advocacy organization!

In 2003, I was looking for a doctor with experience treating hypophosphatemic renal rickets for my two teenage children. It was past due for them to transition from the pediatric nephrologists that had treated them for years to an adult endocrinologist. My doctor recommended they see a doctor with more training in growth issues and referred me to Dr. Thomas Weber at Duke Medical Center. I spoke to Amy Wright, Dr. Weber's nurse, inquiring about his experience with hypophosphatemic renal rickets. I mentioned that I had experience leading support groups and wanted to start one for XLH, but I couldn’t figure out how to find others with XLH. Amy asked if I knew about the XLH Network and gave me the website address. That random conversation helped me find the XLH Network. I signed up as a member that afternoon.

The XLH Network website offered a checklist of symptoms well known by my family. My father, I, both sisters, two children and a grandchild all have XLH. It was so helpful to learn how others dealt with our rare disease and to connect and share information.

In 2011, after I retired as program director at a local nonprofit organization, I learned that the Board needed new members. I joined the Board in 2012 and became President in 2013. It’s been an intense three years of work on behalf of everyone with XLH. Leading the XLH Network requires more time and effort than ever before by every person involved, Board members and volunteers alike. We are committed to doing whatever it takes to create a stronger Network, as the child and adult research holds promise of a treatment for XLH in the next few years. We have to move our organization to the next level of development if we are to adequately provide the support and services our members need.

2. What's your "super power" -- the special skill, knowledge or experience that you bring to the board?

I’m not afraid of hard work and as a seasoned advocate, I know how to make our case (lobby!) at the local, state and national level. I’ve visited Congress on behalf of XLH patients asking for an increase of funding for National Institute of Health research. I’ve had breakfast with North Carolina legislators with the NC Rare Disease Coalition, representing the XLH Network. The exhaustion from secondary hyperparathyroidism slows me down, but I’m still willing and able to put on my XLH Day button and talk to anyone that walks by the XLH Network at medical conferences across the USA. We have to do this outreach to raise awareness of XLH or we remain invisible to the majority of doctors and the public. I hope to train more volunteers this coming year to do this very important work.

3. What XLH Network project are  you working on now that you're particularly enthusiastic about?

There are so many great projects going on within the Network right now, but I am most excited about moving from an all volunteer organization to one with a professional Executive Director to improve our ability to serve our membership. It’s an important part of growing our organization and an important benchmark of stability for the Network’s future.

NOTE: You can also read a newspaper article featuring Becky here: