Explaining about life with XLH

Labor Day in the United States is dedicated to the achievements of American workers, but it's often celebrated with family and friends as opposed to co-workers. 

If you live in the United States, odds are you had a barbecue or other get-together this past weekend. If so, you may have experienced either the loving support or the bewildered confusion of your family/friends with respect to XLH. 

Even if you have a supportive community, you may still be reluctant to talk too much about XLH for fear of coming across too negatively. And if you're surrounded by a less supportive community, you may struggle to make them fully understand the complicated medical explanations for your lived experience. Or sometimes it's just too exhausting to keep all the terminology straight, so it's easier to just brush off any questions. (Seriously -- who but a scientist or an XLH patient would ever imagine that calcitriol refers to a hormone made out of vitamin D and not to anything related to calcium?) 

Whatever your circumstances, if there are people around you who want to know more about XLH, who want to discuss how best they can be supportive, or who want to see the proof of what you describe as XLH symptoms/treatment -- we've got a suggestion: send them to our forum. 

Some of the information at the forum is open to the general public, other sections are open to family/friends, and others (the most personal discussions) are limited to those most directly affected (patients and the parents of minor patients). We encourage extended family members and friends to join, so they can read the FAQs about the condition and get links to news and journal articles. Doctors and other health care professionals are encouraged to join as well.

So, the next time someone asks how they can learn more about your XLH or insists that XLH is just for kids, send them our way. The forum will set them straight!

Working with your health care team

Global Genes (globalgenes.org) has a really outstanding webinar (video) at its site with suggestions for working with your health care team about your (or your child's) rare disease.

Three particularly interesting points were:

1) it's useful to write out a brief narrative of what the disorder is and what your experience with it is, and bring it with you to medical appointments to make it easy to tell new health care providers the basic information without forgetting anything important;

2) for children who are hospitalized, there are often "child life" professionals who can help with things that aren't exactly medical treatment, but that make the experience better, so be sure to ask for those services; and

3) for both adults and children who are undergoing a wide range of treatment and have had a case manager assigned at the insurance agency, consider that person part of your medical care team and keep him/her in the loop.

You can watch the whole thing here: https://globalgenes.org/rare-webinar-communicate-with-healthcare/

Changing mindsets

Today's guest post is by Network member, Andrew Shortall. He was diagnosed with XLH at age two, and has become a self-taught chef, wine business person and a writer, with aspirations to become a novelist. 

“Wait, I’m not disabled!”

How familiar is that statement among XLH patients? Very! Or at least it is in my life. While I understand and accept that I have a life altering condition, I’ve always been stubbornly proud and hesitant to admit that I do indeed have a disability or handicap. The same stubborn pride that I’ve seen in other XLH patients; the thing that drives us all forward and never allows us to give up on ourselves or each other.

However, as I grow older and my condition progresses, I’m finding it increasingly difficult to continue saying I don’t have anything more than physical limitations. The truth of the matter is, while my condition isn’t as serious as others, I do in fact, have a physical disability.  

But, accepting that truth doesn’t mean I have to give up my stubborn pride!

It is a streak that makes me always want to do things for myself. I carry my own laundry basket. I drive a car with a manual shifter and no control modifications. I can cook, clean house, maintain the car and do a multitude of other things that a more severely disabled person might not be able to do. For that, I’m hugely grateful. Yet, I must still accept that there are a great many things that I am simply physically incapable of doing.

I cannot walk for long distances, let alone run. When I’m working in the kitchen, I have to sit down every so often. These, and others, are things I cannot do. I do not have the physical ability for them. That’s basically what a disability is, and exactly what I’ve been trying to get my head around these past months and years.

It truly bothers me that handicap and disability is so heavily stigmatized. In a world where equality is at the forefront of daily life, we still have inequality and discrimination towards those who aren’t “normal.” Perhaps that’s why it has been so difficult for me to accept that I have a disability. Because of the perceived stigma attached.

What I do know is that we must strive to show people that while we may have a physical disability or handicap, they don’t change who we are as humans. They don’t make us less useful or relevant in modern society.

This change in mindset came about for me because a friend asked what government benefits I receive for my disability. Which is when I exclaimed, “wait, I’m not disabled!” Their acceptance of me and the things I can do made me realize that while I am disabled, I am still relevant and useful. And that will make it easier for me to accept the help I will most certainly need in the future.

I have to accept that my physical limitations are now disabilities. Yes, I am disabled. And I’m okay with that!

If the shoe fits

Today's guest post is by Network member, Andrew Shortall. He was diagnosed with XLH at age two, and has become a self-taught chef, wine business person and a writer, with aspirations to become a novelist. 

I was always a difficult person to buy shoes for. My feet are wide, so I generally had to get the next size up. I never truly understood the importance of having comfortable shoes as an XLHer. And now that I have you hooked, allow me to explain.

Many years ago, I slipped in the shower and broke the fifth metatarsal of my right foot. The so-called “soccer player’s injury,” or at least it was, according to the orthopaedic specialist looking after me.

Over the course of my recovery, I had a fiberglass cast and cast shoe. Both combined to have the effect of giving my right leg an extra inch in length, which leveled out my hips. Rather miraculously, this lead to a significant reduction in my back pain. So, I asked the specialist and he referred me to an orthotics clinic who outfitted my shoes with a raise designed to do the same job as the cast and shoe.

While my walking and back pain improved, it wasn’t perfect. And I didn’t understand why until I moved to France and my now well-worn shoes finally started falling apart. I got them re-soled but that made them increasingly uncomfortable. So, when a lace snapped, I put on some old trainers or running style shoes. Within a day or two, I felt more at ease on my feet and started walking better. So, I bought new trainer style walking shoes. They were cheap, but they were also a stop gap.

Again, my walking improved, as did my stamina for standing in the kitchen. However, as is inevitable with cheap shoes, they quickly became uncomfortable so on the recommendation of my Dad I researched some specific walking boots and went to try them on early in January. Again, I ended up buying a couple of sizes bigger than normal, but apparently French feet are smaller than Irish ones!

Happily, my new walking boots are far more comfortable than the old ones. And once again, I’m walking easier and have more stamina while standing in the kitchen. But the best part of this story is that I’ve drastically reduced my reliance on NSAID pills to manage my back and joint pain. I’ve gone from two to four pills a day to two pills a week. Although I do take one or two when I’m working.

I never realized that footwear could have such a profound effect on mobility and stamina. While I won’t be walking a 10K any time soon, I’m very grateful for the improvements. So, if you have similar issues, please consider trying some different shoes. You might be surprised!

Describing pain

Today's guest post is by Network member, Andrew Shortall. He was diagnosed with XLH at age two, and has become a self-taught chef, wine business person and a writer, with aspirations to become a novelist. 

“Can you describe the pain for me?”

This is a familiar, and often frustrating question for both patients and doctors. Especially for many XLH sufferers who invariably deal with chronic pain during their lives. How do you describe something to a medical professional that simply defies explanation? And how does a doctor interpret the varied phrases and descriptions provided by the patient?

I’ve read stories of patients becoming upset by the inability to accurately give details to their doctor. The doctor’s understandable frustration never helps, either. Nobody is at fault, of course. Pain is different for everyone. My daily pain varies in location, intensity and type. And my mother describes her XLH-related pains differently.

For example, I have osteoarthritic pain in my hips. Because the joint can stick and click sometimes, that can be very painful. But, what kind of pain? I’d say a burning ache that builds to a sudden stabbing crescendo, followed by blissful relief once the joint clicks and frees itself. As for my back pain, that’s different again. At rest, I have a mild to dull ache in the lumbar muscles. If I’m working in the kitchen, it builds in intensity and spreads across my mid back and then becomes pinching with every movement. And at that point, I know to sit down and rest if possible.

I’d almost liken the effort of describing pain to a beloved pet dog trying to tell us they’re not well. We know the signs, such as a limp when the dog is walking, or raising a paw to have it checked, or even not eating. But how do they explain it?

I think both patients and doctors need to find common ground. And one brilliant article I read recently by Christine Miserandino describes “spoon theory.” It is something a lupus sufferer created to describe her condition to friends and family. Spoons represent her energy on a given day, and every task takes one spoon away. By having common terminology, we can make it easier for all. After all, understanding our bodies and pains more won’t hurt, will it?

Attitude

Today's guest post is by member Nancy J. Alauzen. She is an adult with XLH and a positive attitude. In her spare time, she loves to read and recycle.

I have had XLH since I was born over five and a half decades ago. My mom skillfully managed my XLH until my college graduation. The main thing that has helped me successfully manage my XLH has been my positive attitude, inspired by my last name, Alauzen, which is pronounced "All Is In."

Over 20 years ago I started a business and planned to be a professional speaker giving presentations on overcoming obstacles. A mentor suggested “All Is In Attitude” to capture the correct pronunciation of my last name and the way I approach life. I’ve known from an early age that the glass can be seen as 'half full' or "half empty." I have chosen to approach life with the glass "half full." This has helped tremendously with living with XLH.

Those of us who live with XLH can fill a sheet of paper (or more!) with the many challenges we have faced along  the way. Early in my XLH journey, I naively believed that having tibial osteotomies to correct the deformity of the legs was the only hurdle to overcome! 

My checklist has grown over the last 40 years to include some of the following: Tibial osteotomies and subsequent removal of the hardware; Baker Cysts; two knee replacements; modification to a knee replacement; hearing loss, DVT, parathyroidectomy, chiropractic and podiatric issues; and classic dental abnormalities for XLHers, including almost a dozen root canals, half a dozen extractions, two fixed bridges and five implants.

Your checklist may be shorter or longer but the questions remain the same. Is it easy to live with XLH? No. Is it manageable to live with XLH? Yes. How? I believe the one secret and key to successful XLH management is “All Is In Attitude.” If we see our glasses as half full, we can manage our XLH more successfully.

The maturity of XLH patients

Today's guest post is by Network member, Andrew Shortall. He was diagnosed with XLH at age two, and has become a self-taught chef, wine business person and a writer, with aspirations to become a novelist. You may remember him from a few months ago, when he shared his experience with some confusion over whether a symptom was XLH-related or not.

"Andrew, you’re so serious."

I've heard that phrase most of my life, from many different people. They seem to think I never have any fun, but I've had plenty of fun throughout my 38 years on this planet, and some amazing experiences. I've driven a single-seat race car on a race track, I've stood next to a Formula 1 race car as they fired up the massive V10 engine, and I've had a flying lesson in a helicopter.

And yet, I’m labeled a "serious" man.

I've come to realize that being serious is actually a different label for maturity. Growing up with XLH has left me with this perceived maturity. And I think this is something that is quite common with anyone diagnosed with a chronic medical condition, who has to go through life dealing with all the issues it throws at you. A child with a chronic illness really does have to grow up quickly. In my case, I underwent multiple surgeries, spent weeks at a time in hospitals and visited my endocrinologist as often as twelve times a year.

This level of maturity, at least in me, has had a knock-on effect on how I deal with the various traumas life sends my way, too. I've lost friends and family to illnesses, I've been hired and fired from jobs, I've dealt with the end of a relationship, and most recently, I've watched my much loved doggie pal’s health deteriorate until she finally passed on.

To look at me, you might think that I was uncaring about all these things. Nothing could be further from the truth. At funerals, I’m deeply cut up inside. When my dog passed, I cried in private. When my now ex-girlfriend ended our relationship, I bounced between feelings of anger, hurt and sadness for a while. But eventually my "maturity" kicked into high gear. My coping mechanism asserted itself, just as it always had during every physical trauma I've been through.

People have asked me how I manage to cope so well, and wonder why I’m not more visibly upset when something bad happens. I think my XLH has conditioned me to be this way. It really is no bad thing, because when someone I care about suffers a trauma, I can be the rock they need to lean on. As someone who has been leaning on other people his whole life, it's really nice to be able to return the favour!

The Social Media Flashlight: How Facebook Demystified XLH

We have another guest post today, this time from Jennifer West. She's the mother of an XLHer, who lives and works in the Wisconsin Northwoods. She's also an antique-collector and nature-lover. 

2009 was one crazy year. Our youngest child was born, and our daughter, Ada, was diagnosed with a spontaneous case of XLH. I was a hormonal mess, crying at the drop of a hat. I don’t think I ate very much, and sleep eluded me often. I lost weight, dropping down to my high school dress size, and I started getting sick. A lot. Tired and sick and confused. That’s my memory of 2009.

When that diagnosis came, after the X-rays and the blood draws and the appointments with first an orthopedic surgeon and then an endocrinologist, we were stunned. Rickets? And XL what? No brochures from the doctor. No resources. We were sent home with a stack of photocopies from a medical journal. We felt like we were walking through a tunnel without a flashlight.

I am a research junkie. Give me a topic, and I’m all over the Internet. So I pored over Google, traipsed through online medical journals, and read and read and read. And then I turned to Facebook.

I tentatively typed “rickets” into the social site’s search engine. And then “XLH.” A few results showed up, and I sent friend requests to anyone I could find who had referenced the condition. And then the notes came. Notes of encouragement. Notes of connection. There were others out there. I saw a glimmer of light. There was a path. I wasn’t the first to walk here.

C.S. Lewis, in his book, The Four Loves, said, “Friendship is born at that moment when one person says to another, ‘What! You too! I thought I was the only one.’”

I’ve always loved that quote, and I think it explains why social media is such an important resource when you’re dealing with a rare condition such as XLH. Social media eliminates geography. It says, “Find me, and I will share with you.” It links us. It pulls us out of that dark hole we’ve sunk into. As a parent, it helped the healing process, gave me a roadmap and encouraged me to move forward. Social media humanized the condition, and showed me that my beautiful daughter wasn’t defined by her disease. She was just that, my beautiful, incredible daughter.

These days, I use social media to update my friends and family on Ada’s appointments. Occasionally, I post a longer note about her overall status. It’s no longer the lifeline it was in the beginning, but it remains a valuable way to connect and share and explain this journey called XLH.

And, friends, because that’s what Lewis says you all are, thanks for letting me know I’m not alone.

Why I blog about XLH

We have a guest blogger today, S.G. Hunter. She's a member of the Network who's been blogging about her experience with XLH over the past two years at Banjogrrldiaries.wordpress.com . She describes herself as a 53 year old southern woman with x-linked hypophosphatemia and a sense of humor, and claims that both traits are genetic. 

I invited her to share her blogging experience with the Network, and this is what she had to say:

Someone suggested to me two years ago that I start a blog. I said, “What is that?”  I had heard of blogs, but didn’t know what they were. “A blog,” she answered, “is a personal website where people write about their experiences, thoughts, and feelings.”

I certainly had many emotions and physical changes to process. Once I turned 50, my body decided it had crested “the hill” and started flying down the other side. I began to experience new problems with XLH and reluctantly admitted that it was affecting my quality of life and that I needed the help of doctors.

When I started blogging, I discovered that writing is a great outlet. I had never talked much about my XLH. My brother, until last year, just thought I had arthritis. People who know me just thought I was bowlegged, had a bum knee and was of short stature. I didn’t want to be like some people I’ve known who only talk about their aches and pains. I didn’t want my “identity” to be wrapped up in a label. But at 50, the label “Aging with XLH” became difficult to ignore.

So I talked to my dentist, and then my family doctor, who set me up with a specialist. I began to admit to myself and a few family members that I was encountering additional problems related to XLH. And, as I am sure many of you know, our experiences with the medical profession can by themselves provide enough material to blog about for a lifetime. I personally can’t help but find something ironic or thought-provoking at every medical visit. I believe that’s the way life is, if you’re paying attention.            

Blogging was initially an outlet to express my feelings and thoughts about the physical changes and doctor visits. Then I made connections with other XLH-ers through my blog. When friends discovered I had a blog and wanted to read it, I told them “You’re not part of my ‘target audience’ but you’re welcome to read it. Just remember: I’m not writing for YOU.” I realized then that I wanted to write for other people with XLH. I hoped that my stories could make someone smile or laugh. So my blogging changed from writing for myself to writing for others like me whom I had never met. I’ve made wonderful connections through the blog.

Last year I wrote a post about my homemade limberjacks and offered my limberjack plans for free. I encouraged people who requested the plans to send a donation to the XLH Network. Several people requested the plans, and one person even sent me a copy of the receipt for his XLH Network donation. That made my day.

Blogging, for me, has changed. At first, I wrote for myself. Then I wrote to make connections and encourage others. Now I want to raise awareness too. I hope to continue writing for all of these reasons.

XLH and social media

We're kicking off the redesigned blog with a series of posts on the role of social media – blogs, Twitter, social gathering sites (like Facebook, Google+ and forums), and whatever comes next – in the XLH experience.

Today, the topic is using social media in the context of having a medical diagnosis, either for yourself, or for a family member. For some of us, having information at our fingertips can help reduce the anxiety and stress. Even when we can't change a situation, just knowing the facts can make it feel less overwhelming. Sometimes we can even find coping tools in other patients'/families' experiences, which we would never have thought of ourselves.

Of course, when gathering information from the internet, whether from a website or a blog, it's important to make sure that the information is coming from a reliable source. At the top of my personal reliability scale is the National Institutes of Health, which incorporates a blog into this page.

Somewhat more specific to XLH patients, although it encompasses other conditions too, is the American Society for Bone and Mineral Research. It too has a blog incorporated into its home page, which you can find here.

To get the most from social media, look beyond XLH-specific (or endocrine-specific or bone-metabolism-specific) resources to sites that address symptoms common to many conditions. For example, the Global Genes Project, which is a "rare and genetic disease patient advocacy organization" has a blog that features a variety of rare conditions. Check it out to see why you should be wearing jeans on Friday, February 28. You'll also read about other patients and families dealing with some of the same frustrations that we have in the XLH community. If you're interested in the politics of rare disease research funding, check out the blog of the Rare Disease Legislative Advocates.

I always find interesting information in the health section of my local (Boston) public radio station, where its blog is known as Commonhealth. It's a good source for new and timely issues in health care, and, located as it is in the midst of several world-renown medical centers, they have access to a wealth of contributing experts.

Perhaps those resources are all too technical and scientific for you. I admit that biology and chemistry weren't my best subjects in school, so sometimes I prefer a more casual, laid-back resource like personal blogs. They shouldn't provide medical advice, but they can help you put your own experience into perspective.

Network member S.G. Hunter has maintained an XLH-focused blog for the past two years. I'm not aware of any other blogs that are dedicated to XLH, but if you know of any, please drop me (shortleggedlife at gmail.com) a note about them.

There are plenty of blogs on just about any symptom you can imagine. Just as an example, you probably know that anyone with chronic illness is at risk for depression, and it can be helpful to not feel alone with the darkness. Internet blogging sensation, Allie Brosh, is an extraordinary storyteller and graphic artist, who somehow finds an uplifting message in the midst of depression.

Finally, if you visit any of the suggested blogs without finding anything that appeals to you, don't give up. Connecting with blogs is a bit like going on a blind date or reading a book that a friend recommended. Sometimes you're left wondering what on earth the friend was thinking. But when the connection is right, it can be life-changing. If you find that kind of great blog, please share it with me (shortleggedlife at gmail.com), so I can pass it along to the rest of our readers.

Meanwhile, I hope you'll check back here regularly to see what's new, or else subscribe to the posts in email format. Next week, XLH member S.G. Hunter will share some thoughts about the blog she's maintained for the past two years, and the following week, Jennifer West will talk about how she turned to social media when her daughter was diagnosed with a spontaneous case of XLH.