Important Announcement about Executive Director

PLEASE READ THE FOLLOWING IMPORTANT ANNOUNCEMENT:

We are so excited about the ways the Network continues to move forward and serve our members. This year alone, we have piloted our collaborative study BeyondXLH, introduced Community Connections events in an effort to provide members with additional opportunities to meet and learn together, completed our PFDD report that is almost ready to be posted on the FDA’s website, worked behind the scenes with pharmaceutical companies and insurance payers to address how to best assist our members as they consider their treatment options, and worked to support international organizations attempting to make change in their countries.

Rachael Jones has been an inspirational leader during this pivotal year. So, it is with mixed emotions that we are sharing Rachael’s letter resigning her position as executive director. We are beyond excited that Rachael had the unexpected opportunity to return to her first professional love: editing and writing children’s materials. We hope you will join us in wishing Rachael well! We are so thankful that she will always be a part of our XLH family community.

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Dear XLH Members,

With a mix of emotions, I announce that I will be stepping down as Executive Director of The XLH Network. I was offered a senior editor position in textbooks and after careful consideration have decided this opportunity was too great for me to decline. Having been in education for fifteen years, this position will allow me to continue to pursue my passions for education, editing, and writing. While I am excited about this opportunity, I am incredibly sad to leave my position as the Executive Director of the Network. I initially took on this role as an interim position, but chose to stay a bit longer. I have enjoyed meeting many of you and getting to hear you share your stories and your experiences with XLH. I know that the Network is in great hands with the Board’s leadership and the support of many of you who have enthusiastically volunteered to support the mission of the XLH Network. I look forward to hearing about all the wonderful things that the XLH Network will continue to do to serve and support XLH families. I hope to see many of you at an XLH event in the future!

With Kind Regards,

Rachael Jones

Meet a Member - Kate A.

Today we meet Kate A. who lives in Colorado with her wife and 4 ½ year old son (not affected). She works part-time in accounting and is a stay at home mom. Kate loves traveling and camping. One of her favorite vacation spots was in South Dakota where she could see the monuments and get in some four-wheeling! Some of her favorite hobbies include arts & crafts, organizing, and designing.

Kate says she struggled most of her life because of XLH. Her goal is to show people that if she can overcome her disability, others can too. She does everything she can to go out and experience life and have fun.

At the young age of 2, Kate’s mother noticed her legs were severely bowed. This is when she was diagnosed with a spontaneous case of Hypophosphatemic Rickets. XLH has made Kate work twice as hard to walk and she says the pain is often unbearable. However, she does not let her disability define who she is. Having the mental endurance and stamina lets her push through the daily pain and to experience life with her family. Kate has been on the new treatment for almost 4 years. She is happy to never see another pill again!

Kate found The XLH Network almost 4 years ago, when she met someone else with XLH for the very first time. When asked what the Network means to Kate and her family, she said, “The networking and family bond from others is out of this world! To finally know, hey, I’m not alone and people understand has been so emotional and joyful. I am so thankful for the Network, the information, and the people.”

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.

Regional XLH Programs

Families living with XLH are living in an exciting time where there are a variety of options to meet others going through similar experiences.

It’s wonderful to have so many worthwhile opportunities, and also sometimes challenging to sort through all the announcements and decide which events best meet your needs.

Here is information on the XLH Network Community Connections and the Ultragenyx XLH Linked Xperience programs. Both are great programs and we hope many of you will be able to attend more than one event!

Meet a Member Wednesday - Marina

It's Meet a Member Wednesday. Today, we meet Marina! Marina was born in Madrid, Spain and now lives in New Jersey with her husband. Marina has 2 daughters, both in college, and both who have XLH. She may only stand at 4’6” but her personality adds at least another foot! She is very proud of her “His & Hers Kitchen.” Her side of the kitchen is 6 inches lower than the rest. She cooks on the countertop cooktop while her husband does the dishes on the standard sized side of the kitchen. Many of you may know Marina from her posts on different social media platform support groups. She has been an avid advocate for the XLH Network since she discovered the group in 2002. Marina was one of the organizers of the first two XLH Day events. When she is not advocating for XLH, Marina is a full time Senior Product Manager of a software program for chemical engineers to design petrochemical plants. She travels all over the world with her job and takes every opportunity to meet other XLH patients. Marina’s mother has XLH and was treated with osteotomies for at the time an “unknown condition” that was thought to be related to the parathyroid. When Marina showed her bowed legs to the doctors, they immediately gave her a diagnosis of “whatever your mother has,” and then she started receiving treatments with casts and braces. She finally learned what she had when her oldest daughter was diagnosed with XLH at 16 months old. And then her second daughter was diagnosed just a few months later. Marina has been on the new treatment for almost 4 years now. Her involvement and volunteering efforts are truly appreciated by XLH Network members. Marina’s two beautiful daughters are her motivation and main reason for her constant involvement. 

Meet A Member Wednesday - Danaya B.

It's Meet a Member Wednesday and today we’re meeting Danaya B. Danaya lives in San Antonio, TX with her fiancé. She is a very talented makeup artist and coaches a local cheer and dance team. Danaya has never let XLH stop her from accomplishing her dreams. At the young age of 10, she earned her black belt in karate. She started having corrective surgeries when she was 8. After her last surgery in 2011, her mobility was hindered and she has been using her wheelchair and scooter to help her get around. Danaya traveled to San Francisco last year to sit on an XLH panel, and considers this her favorite travel experience because she met what she calls her “forever ladies” (#waddletribe).

Danaya was diagnosed with XLH at 2 years old, through bloodwork. Her father is believed to be a spontaneous case and passed it to Danaya and her younger sister. Danaya has been on burosumab for 3 years. She does a lot of stretching and simple exercises to help alleviate pain. She also rotates ice and heat and says this is a must!

Danaya discovered the XLH Network after her 4^th surgery and then became even more involved 3 years later when starting the burosumab trial. When asked what the Network means to Danaya and her family, she says, “It has meant so much to me to know there are others out there and I’m not alone. I now know a whole network of people who understand what I’m going through. This has truly boosted my self-esteem and confidence.”

Meet A Member Wednesday - Robert D.

It’s Meet a Member Wednesday! Our next awesome member for you to meet is Robert D! He was born in New Jersey and currently lives in Trucksville, PA. Robert was diagnosed with XLH at 6 years old through lab work. XLH runs on his mother’s side of the family. His mother, maternal grandmother, sister, and many aunts and cousins have all been diagnosed with XLH. However, his two sons (ages 19 and 28) do not have XLH.

Robert wanted to share the following pain management tip: “Try to stay active and get out, out in the public. Don’t just sit home and get in that pattern, or you will fall into a depression.” Following his own advice, Robert joined a bowling league 2 years ago and has continued to not let XLH stop him. Robert also enjoys the outdoors and loves fishing, swimming, and gardening. He can even make a mean salsa!

Robert was introduced to the XLH Network by a doctor at Quinnipiac University. He has this to say about finding the Network, “I have a growing XLH family from all over the USA and other countries. It’s nice to talk to each other knowing we all understand what it is like.”

Fun fact about Robert: He used to be able to solve the Rubik’s Cube in under a minute!

Meet a Member Wednesday - Shay W.

Here is the first post in our “Meet a Member Wednesday” series. Meet Shay W! She was born and raised in St. Louis, MO and was diagnosed with XLH at 18 months old, and is a spontaneous case. She is married with two beautiful children; ages 3 and 5 months old. Her son was diagnosed with XLH at 12 months old, and her daughter will be tested soon as well.

When asked how XLH affects daily life, Shay responded that age and pregnancy have played a big part in the increased amount of pain that she has every day. She and her husband are looking to move out of their current home, as going up and down the stairs to do simple chores has become increasingly more difficult. However, she anticipates that she will be able to start on the new medication soon, and hopes it will make her a more active mom.

Though there are difficulties living with XLH, Shay does not allow those to get in the way of her passion for sewing. She sews and sells children’s clothes and plans to expand her line to include adult clothing.

Shay found the XLH Network while searching on the internet. Once she connected with others she felt immediately comforted because there were others who had similar symptoms and were going through similar struggles as a result of XLH. “The XLH Network is family to me. I was lost before finding this group of wonderful people, especially since I feel like I don’t always fit in the normal world.”

Thank you, Shay for sharing your story with us! If you are interested in being interviewed, please send an email to our Board member, Kimberly Murray, who will be conducting these short interviews: kimberly.murray@xlhnetwork.org.