Friday, March 8, 2019

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!

Wednesday, March 6, 2019

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. 

Wednesday, February 27, 2019

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 fiancĂ©. 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 4th 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.”

Wednesday, January 23, 2019

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!




Wednesday, January 16, 2019

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.

Thursday, December 20, 2018

XLH Network Board President Message 2018 - Bill Coogan

It's not often that something life-changing happens to an entire global community, but that can be true for XLHers of all ages in 2019. Next year may see more approvals, all around the world, of the first-ever treatment for XLH (and the related hypophosphatemias) that gets at the root of the problem (phosphate wasting).

But the treatment will only help if the relevant people know about it! Our next big challenge will be to continue to reach everyone in both the patient population and the medical community and to continue to educate all about the realities of living with XLH, why treatment is absolutely necessary and what the treatment options are.

Presently, there's a big disconnect between what the XLH experts know and what's happening in the day-to-day treatment of XLHers by non-experts. While some medical providers are current on their understanding of XLH, there are far too many instances of uninformed medical providers telling patients that there's nothing that can be done to help them (or that their symptoms are unrelated to XLH). Some patients can challenge the bad advice, but may not be able to find any better medical provider, depending on where they live. Or they may lack the knowledge or the resources to successfully challenge their medical providers' statements.

We plan to work on both sides of this scenario. Some initiatives will focus on educating the medical providers so they'll give better advice, and other projects will focus more on educating the patient community about current options so no one will be discouraged by outdated advice.

In this regard we conducted a Patient Focused Drug Development Event in Baltimore, MD on October 5, 2018. It was well-attended by XLH patients, members of the FDA, and XLH medical professionals. The event was highly informative for all. Patients and doctors shared their stories via panel discussions and videos. All left with a better understanding of XLH being a life long disorder.

Looking ahead to 2019, for the health care providers side of the equation, we'll be attending more medical conferences, including possibly going to the meetings of the American Association of Nurse Practitioners and the Endocrine Society Conference. We will also be updating our Clinician's Guide and other XLH materials to distribute at medical conferences.

For the patient side of the equation, we'll be creating and sharing some short videos by experts on various aspects of XLH and updating our patient materials. Plus in 2019, we will be conducting 3 regional meet ups. The first location in 2019 will be Columbus, Ohio on March 30th. More details on all 3 regional events will be shared as particulars are developed. Each will be an excellent opportunity for patients and medical professionals in the region to meet and discuss x-linked hypophosphatemia.

But first, we need to be sure we have the resources we need to carry out these initiatives at a very critical time for the XLH community. Many gave on #GivingTuesday (November 28th) and we want to thank you all for your support! If you were not able to give, you are still able to give by December 31st and have your tax-deductible donation be counted in 2018. Consider giving the gift of HOPE to XLH patients and providers!

Donations can be given here: https://xlhnetwork.networkforgood.com/projects/62915-hope-for-xlh

Have a Happy New Year! We hope to see many of you at our regional meet ups in 2019!

-Bill Coogan
Board President
The XLH Network, Inc.



Wednesday, September 5, 2018

Burosumab approved for pediatric use in UK

We are absolutely thrilled to announce this morning that burosumab has been APPROVED for routine use on the UK’s NHS for children from 1 years old up to young adults aged 16/17 years.
This news completely changes the landscape for the estimated 250 children living with XLH in the UK. Burosumab will be the first and only treatment that targets the cause of the hypophosphatemia in the body. The treatment helps reduce symptoms during childhood and by reducing bone damage during childhood growth it could mean the potential for a better quality of life for children later in their lives too.
We want to say a MASSIVE thank you to all those individuals who shared their experiences with us and with NICE so that decision-makers could understand what this treatment will really mean to patients and their families. Without all of your input this decision to approve burosumab may not have been made.
For those that can’t quite believe their eyes this morning, please visit NICE for the full guidance on children with XLH. If you have further questions about the treatment and whether it is right for your child then please do speak to their paediatrician that manages their XLH.
Since this news is so important, we at XLH UK have put together a press release. See link.
https://www.dropbox.com/s/o97z8m8nswd79m2/PR_xlhuk.pdf?dl=0
Whilst access to burosumab on the NHS will just be for children for now, let me assure you that the fight for the adult license has begun.
Meanwhile please please do stay tuned and encourage other XLHers in the UK & their families to join our XLH-UK facebook page because we’re so much stronger together.