Pain Comments to FDA

The FDA recently hosted a Patient Focused Drug Development meeting on Chronic Pain, and the public is invited to provide comments about the information presented, as well as their own experiences with pain. The XLH Network, Inc., provided a full statement on behalf of our community, and a small portion of that statement is included below. We want to encourage our members to review the PFDD information at https://www.fda.gov/Drugs/NewsEvents/ucm603093.htm and to write their own responses and comments if they believe the information will help the XLH community. You can submit your comments here: https://www.regulations.gov/document?D=FDA-2018-N-1621-0001. Comments are due by September 10th.

Pain is a life-long part of the XLH experience that includes chronic bone pain (either due to fractures or due to mineralization defects without fractures), osteoarthritis at an earlier age than the general population due to cartilage thinning, dental pain from spontaneous abscesses, neurological pain from calcifications that impinge on the spinal canal, and pervasive, early-onset bone spurs (enthesophytes) that affect many of the tendon and ligament insertion sites throughout the skeleton and spine.

The most significant downsides to the available current treatments for the pain of individuals with XLH are as follows: 1) they not effective in some patients; 2) they work somewhat but cause significant adverse effects from the drug; 3) they work but at the risk of addiction or stomach, kidney, or liver damage; 4) generally they don't completely resolve the pain, just dull it a bit; and 5) they are a treatment and not a cure, because they don't get to the root cause of the pain.

Some individuals with XLH report having difficulty getting effective dosages or sufficient quantities of pharmacological treatments to handle the extreme severity of pain they experience. Other patients report being viewed as drug-seeking or having a psychosomatic complaint because their pain is both diffuse and severe. In addition, the origin of pain often evolves from time to time without an obvious clinical cause to explain the source of the pain. Finally, many health care providers are unaware that XLH is associated with pain and/or are unaware that there is such a thing as bone pain in the absence of trauma, and this may result, too often, in accusations of drug-seeking behavior or as having psychological issues.

Collateral Damage

This week, we've got a commentary from the parent of a spontaneous XLHer, who's dealing with chronic pain against the backdrop of negative press about opiates. Here's what the parent had to say:

Did you know that when it comes to pain treatment some professionals do not recognize XLH as a disease that can cause chronic pain? Our family has discovered this first-hand in our XLH treatment journey. A number of well-meaning professionals, friends, and acquaintances have made suggestions for how my XLH child might find some relief (anti-inflammatories, bee-venom studies, Epsom salt baths—we have tried them all). Steroids worked great for a while, but when her kidneys started to shut down, new treatment had to be considered. Unfortunately, only opioids worked well enough for her to work and live with a certain amount of independence and pay for insurance that doesn’t cover any of the costs of this medical problem. The world of opiates, however, has been a tough world to navigate—a world made even tougher by the rarity of XLH.  

Recently, a pharmacist refused to refill an opioid prescription because he didn't “think the level of pain medicines prescribed were necessary.” This prescription was put on hold, not filled, and it could not be transferred to another pharmacy. We have begun to feel like we are collateral damage in our society’s misguided but well-intentioned attempts to fight a war on prescription drug use.

My child is not collateral damage; and no one’s should be. In an attempt to advocate for my daughter and others with severe pain related to XLH, I have researched various foundations dedicated to raising awareness for pain management. I am volunteering with The XLH Network, Inc. to make this problem more well known, and we are hoping to recruit a pain management specialist to the SAB and to create partnerships with other organizations that might benefit members in similar situations. There are no magic solutions to easing my daughter’s pain, but I am dedicated to making sure that those of us in this community who struggle with chronic pain have some pathways to answers.

It has been a long and lonely road so far, so I hope others know that we do not have to travel it alone.

For more information on chronic pain, see the NIH (https://nccih.nih.gov/health/pain/chronic.htm).

For more information on advocacy for patients with chronic pain, see the U.S. Pain Foundation (www.uspainfoundation.org).

Awareness

While the Network is narrowly focused on a single rare disease, other worthy organizations take a step back to focus on the broader picture. Two such groups are in the news this month for their efforts to raise public awareness.

First, Global Genes works "to raise awareness for the over 7,000 different identified rare diseases that affect roughly 30 million Americans and approximately 350 million people worldwide." As part of that mission, on September 24th and 25th, Global Genes will be holding its fourth annual RARE Patient Advocacy Summit in California. On behalf of the Network's members, our President, Becky Mock, will attend both the Summit and the Tribute to Champions of Hope Gala on the 26th. You can read more about the Summit and the Gala here: https://globalgenes.org/raredaily/global-genes-to-host-fourth-annual-tribute-to-champions-of-hope-gala-and-patient-advocacy-summit/

The second organization in the news this month is the American Chronic Pain Association, which works year-round to raise awareness of chronic pain, an issue of concern to many XLHers. The ACPA's work is particularly noteworthy in September, since it's been designated "Pain Awareness Month." You can read more about this designation and also find useful links to information about pain treatment options here: http://theacpa.org/September-is-Pain-Awareness-Month

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?