Tuesday, October 27, 2015

Five things for parents to do after a child's diagnosis

Hearing your child has XLH is a scary thing, especially if it’s the first child in your family to be diagnosed with it. Member Melissa Braswell is here to share what she learned when her child was diagnosed with a spontaneous case of XLH. Melissa describes herself as "the blessed mother of a joyful XLH patient who loves life and desires to bring people together."

First, make sure you've got a correct diagnosis. Our 20 month-old was initially simply diagnosed with rickets. We saw a pediatric endocrinologist who confirmed that she had XLH and not nutritional rickets.

Second, see a doctor with XLH experience. I’m so thankful our daughter’s pediatrician referred us to a pediatric endocrinologist, who had provided care to other XLH patients. If our child had been treated for nutritional rickets, the medication wouldn't have addressed her need for extra phosphorus.

Third, educate yourself. The XLH Network has a lot of great information about XLH. Do your research. Ask your child’s doctor questions and write the answers down. A nurse once told me, “Understand your child is not here because she’s sick. She is not a sick child. This is not a life threatening disease.” That helped calm all the emotions I was feeling at the time, like confusion, resentment, anger, denial, sadness, and self-doubt.

Fourth, prepare to be strong. You and your family can handle what lies ahead. For my family, the hardest part of this journey so far has been comments from people who have no idea what is going on in our daughter’s little body. Most of them are well meaning people, but as her mother, it just hurts my heart. I use moments like that as an opportunity to educate others who have never heard of XLH. I also share how blessed we are that it is a manageable condition, even though it can be trying at times. It gives me satisfaction and an opportunity to share how great our daughter is handling her condition.

Finally, get connected. It helps to know that we are not the only family going through this. I highly encourage joining the XLH Network! It is a wonderful support group full of people who can truly empathize with you. Beyond that, if you haven’t shared the diagnosis with family and friends, please learn from my mistake! We were so shocked by the news that our child had rickets that we didn’t know what to do with the information. We were trying to let it sink in, but I wish we had told our family sooner so they could have been there for us. After we told our family and friends, a weight lifted from our shoulders. They helped carry the burden during the most stressful time of the initial diagnosis.

Know you are not alone and with the help of family and friends and the XLH Network, your family can and will thrive!

Tuesday, October 20, 2015

Report from ASBMR

Members of the Network's Scientific Advisory Board were active at the annual conference of the American Society for Bone and Mineral Research (ASBMR) in Seattle this year.

SAB member Suzanne Jan de Beur, M.D., was the recipient of this year's Shirley Hohl Service Award at the conference. The award is given to an individual whose activities best represent the dedicated and unselfish devotion in service to the ASBMR and its mission and goals. The official press release is here: https://www.asbmr.org/Publications/News/NewsDetail.aspx?cid=0cb27ab8-0484-4ffe-a5be-0398bfcdd413#.VhhPaflVhHw  Network President Becky Mock and Treasurer Geoff Edelson were there to cheer her on.

SAB chair Carolyn Macica, PhD was on several panels, including one on a subject that many of us know a little too well, but is just starting to be documented in the medical community: "Pain Resulting From Unresolved Skeletal Disease Has a Significant Impact on the Daily Function of Adults with XLH."

SAB member Thomas Carpenter, MD, was also on several panels, including one with fellow SAB member Raghbir Kaur DMD, on the use of traditional treatment in LXH adults and its effects on enthesopathy and teeth.

SAB member Michael Econs, MD was also on several panels, although none were directly relevant to the XLH community.

Wednesday, October 14, 2015

Estate planning

Sadly, we've lost a couple of Network members this past year (not due to XLH!).The Board members were particularly touched by the fact that they had both thought about their final wishes in advance and arranged for donations in lieu of flowers be made to the XLH Network, Inc.

What about you? Have you thought about your final wishes? Not just the big things, like who gets the bulk of your assets and who will take care of your children if they're still minors. But also the smaller bequests and what you want for your memorial services.

If  you wish to leave a bequest to a charitable organization like the XLH Network, Inc., you will need to include it in your will. Your attorney can help you with the exact wording, but you'll need to provide our name and address for inclusion in the will: XLH Network, Inc., 911 Central Avenue #161, Albany, NY 12206.

Perhaps you're not in a position where you can make a donation in your will, but you'd like to designate the Network as the beneficiary of memorial donations. Instructions relating to the funeral generally do not go in a will, so all you need to do is let your family know your wishes while you're still in good health and of sound mind.

To make it easier for your survivors, which also makes it more likely that they'll comply with your instructions, you should make sure your family members have the exact name and address for any charities you wish to benefit from memorial donations. For the Network, you can refer them to our website's donation page, which contains all the relevant information on how to donate: http://xlhnetwork.org/index.php/donate/

We know it's not easy to think about death, but it's important, and waiting too long can result in your affairs not being handled the way you would have preferred. We hope that when you do make your final arrangements, you'll remember to support our work toward improving the lives of XLHers and their families.

Wednesday, October 7, 2015

Major milestone: The Network's first employee

From Network President Becky Mock: 

Stacy Duck joined the XLH Network, Inc. this week as our first ever part-time virtual administrative assistant. She is a self employed grant writing consultant with extensive nonprofit management experience. 

Stacy worked for Western New York Developmental Disabilities Service Office in West Seneca, NY for a number of years and relocated to North Carolina in 2003. She was Program Coordinator at Central State of the Carolinas and received her BS in Human Development and Family Studies at UNC-Greensboro. Stacy served as Executive Director of Chatham Social Health Council in Siler City from 2008-2012. She led the Alliance of AIDS Service – Carolina in Raleigh, NC from 2012-2014, and stepped in as interim ED for Preservation Chapel Hill during the maternity leave of the ED.

Seeking free time to attend her son’s wrestling matches, Stacy decided to start her own business as a grant writing consultant. The position posted with the XLH Network caught her attention and she applied. With her outstanding range of skills, she was selected by the Staffing Committee to become our virtual administrative assistant.  Stacy lives in the same county as I do, but we had never met before. The position is virtual, but we can meet to work on projects if needed, an unexpected bonus.

Stacy is married to her high school sweetheart who is Executive Director of another nonprofit, WECAHN (Wellness & Education Community Action Health Network). Her oldest son will be graduating from the Culinary Institute of Virginia this spring and her youngest is a senior at Southern Alamance High School. He is a high school wrestler and she and her husband are avid fans. She enjoys spending time outside, fishing, camping and travel. The family loves their five dogs, five cats, and two prairie dogs. 

Welcome Stacy!

Becky Mock, President
XLH Network, Inc.