Meet a Member - Kim M.

It’s Meet a Member Wednesday and today we meet one of our Network Board Members, Kim M. from Louisiana! She is 36 years old and has a precious three-year-old daughter. Kim works as a sales tax associate. She loves music and can remember all of the lyrics after hearing a song just once. Kim’s favorite band is Hanson, and she has traveled to various cities and states just to attend their concerts!

Kim was diagnosed when she was two years old, after her mother kept advocating for her and fought for a correct diagnosis. Lab work that confirmed that Kim had XLH (which at the time was known as hypophosphatemic rickets). In 2015 she had a genetic test to confirm that she had XLH, and subsequently she was able to get an early diagnosis for her daughter by having her genetically tested as well. While pregnant, Kim had to take medication every two hours for a total of 26 pills a day, which consisted of a rotation of K-Phos, Calcitriol, Vitamin D, and Calcium. Now, however, both Kim and her daughter are on the new treatment, burosumab.

Kim shared that XLH has a definite impact on her daily life. She struggles on a daily basis with stiffness and pain. Kim tries to remain as active as possible by walking and swimming. Her daughter also helps her remain active, as she spends much of her time chasing her toddler around!

Kim first found the Network in 2011, but didn’t get involved until 2016 when she received word that her daughter’s genetic test was positive for XLH. It was this diagnosis that pushed her to get involved as she knew that she would need to be her daughter’s voice and advocate. When asked what the Network has meant to her, she had this to say: “Since my first XLH Day in 2016, I knew I found my forever extended family. Being a part of this incredible organization and being able to help and talk with others has added extra special meaning in my life; I am an XLH fighter, an XLH mother, and an XLH friend. And I wouldn’t have it any other way.”

Meet a Member Wednesday – Jenna R

                                                       

It's Meet a Member Wednesday, and this week we meet Jenna R! Jenna is from Springfield, MA and currently lives in Belchertown, MA. She is a full-time college student studying graphic design.

 Jenna has a very creative and artistic eye for photography and drawing which led her to want to make a career out of it. She loves traveling to Cape Cod and going to Disney World with her family. Jenna doesn’t let XLH define her or stop her from chasing her dreams. She says she finds herself to be stronger and work harder than those who do not have XLH. At the young age of only 18 months, Jenna’s parents noticed she walked different from other kids her age. They brought her to pediatrician who referred her to Shriners. There, it was confirmed through bloodwork that she had XLH. There are no other known family members with XLH. Before starting the new treatment this past December, Jenna took K-PHOS and Calcitriol for 17 years but XLH still greatly affected her teeth for 16 of those years. Having 27 abscesses, she is hopeful the new treatment will improve her teeth, as it has already improved her level of pain and has helped her feel better. Jenna’s family found The XLH Network 15 years ago, when one of the only forms of communication was through email. When asked what the Network means to her and her family, Jenna said, “Being a spontaneous case, my parent’s didn’t know anything about XLH. The Network has helped us communicate with other people and learn more about XLH.”

Meet a Member Wednesday - Executive Director

This week we have a special edition of Meet A Member Wednesday! This week we’re meeting our XLH Network Executive Director, Rachael Jones! Rachael lives in Colorado Springs with her husband and 2 children, one girl (5 years old) and one boy (7 years old).

Rachael loves camping with her family, baking, dancing, and writing. Particularly, she loves writing children’s stories, non-fiction stories, and blogging. She also loves traveling—from visiting castles in Scotland to getting up close and personal with kangaroos in Australia! Rachael is a former teacher and administrator. She has taught math, literature, and theater to students in Kindergarten, all the way up to high school age. Now, she is our full time Executive Director and we couldn’t be happier!

XLH started with Rachael’s mother (a spontaneous case). Her older brother, two nieces, and her two children all have XLH. Blood tests were used to make the diagnosis.

XLH has taken a toll on Rachael’s ability to keep dancing. She has days where it is extremely painful to move around (especially in winter) and keep up with her active kiddos. Rest, heat patches, and sitting under an electric blanket are different methods Rachael uses to help with the aching.

In 2013, right after Rachael’s daughter was born, she began searching for answers on treatment for XLH. This is when she found out about the Network and attended her first XLH Day. Rachael says, “I cannot express how grateful I am to have found the Network. I came seeking knowledge, and found more information than I could have ever imagined. But just as importantly, I found a community of fellow XLHers who are supportive, encouraging, and strong.”

If you are interested in being featured in a Meet a Member post, please email Kim Murray at kimberly.murray@xlhnetwork.org.