Wednesday, March 22, 2017

Things to do in Connecticut

XLH Day will be held on the Columbus Day weekend, a wonderful time of year to experience what Connecticut has to offer. To help you with your planning, we've asked Board Member Joyce Inman to share her experiences as someone who has traveled frequently to Yale from out of state. We'll have some more suggestions later on for outside the New Haven metropolitan area, but for now, here's what Joyce had to say:

Our family has been traveling to Connecticut to see our daughter’s XLH specialist for eight years. Our daughter was lucky enough to participate in one of the clinical trials for KRN23, and this meant even more travel to New Haven. One of the things we tried to figure out early on this process was how we could make the most of our visits and accomplish some nonmedical outings.

Following are a few of my and my daughter's favorites. Some of our suggestions take only a few minutes (a walk for ice cream) and others can take up your afternoon. Most of them do involve walking, but my daughter found most of our side trips enjoyable (and so did I). Enjoy, and let us know if you find other exciting places to visit in Connecticut.

Are you looking for a yummy bite to eat and a new book? We find ourselves in Atticus on most of our trips to make sure we have a good read for the trip home.

We promise this may be the best ice cream in the New England area. It is worth standing in line for, and you may want to try the grilled cheese sandwich (the only food they sell) as well.

Learning a bit more about the 300-year history of Yale University is fun for the whole family.

We are a southern family, so we are partial to beaches. New England beaches have an entirely different feel to them, and it is worth the ten-minute drive to neighboring West Haven to walk the shoreline with your family.

IT™ Adventure Ropes Course located in Jordan’s Furniture (http://www.jordans.com/attractions/it)
We lucked upon this one Saturday afternoon when we were looking for an indoor activity. Your family will love this indoor ropes course that includes a water and light show!

Yale University Art Gallery (http://artgallery.yale.edu/ ) Before going, be sure to check the hours (closed on Mondays) and also whether there's a special exhibit for a limited time.

Wednesday, March 15, 2017

Transition to adult care video

XLH has been viewed as a childhood disorder until recently, so there's been little thought given to transitioning patients from their pediatric health care provider to a specialist experienced with the challenges for adults with XLH. As we're learning more about the consequences of stopping treatment simply because the growth plates have closed, it's becoming more and more clear that adults should, at a minimum, be monitored for these adult symptoms, and possibly treated.

Parents of adolescents (and younger kids) might be wondering just what they can do to help make the transition smoother for their family. Global Genes recently did a webinar on the topic of "Transition of Care Planning for Care for Children with a Rare Disease," and you can listen to it (and see the slide presentation) here:  https://vimeo.com/192711829

The first speaker, providing an overview of the topic, is our own Scientific Advisory Board member, Maya Doyle, LCSW, PhD.

Wednesday, March 8, 2017

Sharing your experience with health insurance

The Collaborative on Health Reform and Independent Living (CHRIL) is a 5-year research project funded by the National Institute on Disability, Independent Living and Rehabilitation Research (NIDILRR) to study how health reforms affect working-age adults with disabilities. The CHRIL is currently looking for individuals with disabilities to participate in their research efforts.
During the months of April through July, CHRIL staff from the University of Kansas will be interviewing 20-25 adults (age 18 to 63) with disabilities across the US about their experiences using and getting health insurance and/or Medicaid and Medicare. Participants completing an interview will each receive $40. 
For more information: http://www.chril.ilru.org/participate 
Or contact by email: healthsurvey@ku.edu

Wednesday, March 1, 2017

Rare Disease Summer Camp

The National Organization for Rare Disorders (NORD) is once again working with the Hole in the Wall Gang Camp in Ashford, Connecticut, to host an event just for children with rare diseases and their families. This year, it will be held on June 1-4, and it is free of charge.

If you live in the northeast, and would like to attend, you can get more information (and a link to apply) here: https://rarediseases.org/rare-disease-summer-family-camp-place-call-home/?utm_source=HWGC&utm_medium=email






Thursday, February 23, 2017

Research brings hope to the XLH community

Patients with X-Linked Hypophosphatemia (XLH) are living the theme of this year's Rare Disease Day: "Research brings hope to people living with a rare disease."

Virtually all of the estimated 7,000 identified rare diseases have no truly effective treatments available, and until recently that was true of XLH. This year, though, XLH patients will be celebrating Rare Disease day on February 28th with renewed hope as researchers are closing in on what appears to be an effective treatment. XLH is a rare genetic disorder that affects approximately one in 20,000 people.

Patients produce an excess of a hormone known as FGF23, which causes them to have low levels of phosphorus in the blood. Without an adequate source of phosphorus, the body cannot form strong bones and teeth or properly fuel muscles. In the absence of treatment, patients experience bone deformities (most commonly bowed legs or knock-knees), short stature, spontaneous tooth abscesses, bone pain and muscle pain/weakness.

The role of FGF23 in the disorder was not known until 2000, when the hormone was first discovered. Since then, research has provided preliminary answers to a number of questions about XLH, and even to a proposed treatment, currently under review by the European Medicines Agency, and expected to be submitted to the FDA in the second half of 2017.

Clinical trials of the new treatment, known as KRN23, have been promising so far. This Rare Disease day, the XLH community is hopeful that with this treatment or others still in the pipeline, children born in the future will grow up strong and energetic.

The mother of a one-year-old infant in a clinical trial of KRN23 notes that this research "means everything to me." She goes on to say that "having this same rare disease and remembering the surgeries and treatments I endured makes me extremely grateful that my daughter is included in this trial."

For parents of slightly older children, there is nothing like the thrill of seeing their children improve noticeably. One mother of a ten-year-old girl notes that she hopes this research has led to a new therapy that will not cause the same problematic side effects of the only other therapy available to XLH patients. "Being part of a research trial has been intimidating," she says, "but it is so worth it. My daughter’s health is clearly better, and we are helping to pave the way for others."

The new treatment also offers hope to older patients whose bones are long past the critical growing years. One sixty-something XLH patient in a clinical trial of KRN23 hopes that the new treatment will prevent her mobility restrictions from getting any worse. "I may walk slowly," she says, "but I get where I need to go eventually. If my condition worsened, I might not be so independent, and that would be devastating."

Founded in 1996 and growing daily, The XLH Network, Inc., a 501(c)(3) non-profit, helps thousands of people around the world who are affected by XLH and related phosphate-wasting disorders. With the generous guidance of a Scientific Advisory Board, the Network engages in education, advocacy, and patient support by providing up-to-date information on diagnosis, treatment, research and clinical trials to patients, caregivers, medical providers, researchers and other key players in the medical services industry. The Network also fosters the search for better treatments and ultimately a cure.

For more about the XLH Network: XLHNetwork.org For more about Ultragenyx Pharmaceutical: Ultragenyx.com For more about the KRN23 clinical trial data: http://ir.ultragenyx.com/releasedetail.cfm?ReleaseID=989901 For more about Rare Disease Day 2017: www.rarediseaseday.org

Tuesday, February 21, 2017

Rare Disease Day February 28, 2017

What will you be doing on Rare Disease Day? There are activities all around the world. Find one near you: http://www.rarediseaseday.org/events/world

This year's theme is of particular interest to XLHers: "Research brings hope to patients living with rare diseases."

For those living in the U.S., the National Organization for Rare Disorders (NORD) is organizing state-level advocacy events, and could use your support. Find out about those organized events or learn how to organize your own here: http://rarediseaseday.us/events/advocacy-events/?utm_source=RDD17_email1&utm_medium=email#1474294382939-7c2f74aa-19892f0d-7a12

Board member Gin Jones will be on a panel at the event sponsored by Quinnipiac University's Frank Netter School of Medicine in North Haven, CT (a day early, on February 27). You can read more about it (and plan to attend if you're in the area) here: www.qu.edu/rarediseaseday 

Thursday, February 16, 2017

Last chance for Patient Day Scholarship

Quick reminder that Monday, February 20th, is the deadline to apply for a scholarship to the Patient Day sponsored by Ultragenyx Pharmaceutical in Novato, California. Don't wait until the last minute if you want to attend!

Information here: https://digital.lenos.com/keymeetings/UltragenyxPatientDay2017/Content/Welcome