Patient Seminar Series: Those with XLH Share their Stories

The Patient Seminar Series is an event in which those who are affected by rare diseases in some way share their experiences. Patients, family members, medical professionals, and legislators all told stories or related their experiences to help people better understand diseases that they may not hear about otherwise. On the third day of the event Gin Jones shared her story of being affected by X-linked hypophosphatemia (XLH). She wanted to help others comprehend her experience, and she also stressed the importance of listening to those with rare diseases.

About X-Linked Hypophosphatemia (XLH)

X-linked hypophosphatemia (XLH) is a rare disease that occurs due to low levels of phosphate in the blood. This disease is characterized by soft, weak bones. Symptoms can vary in severity, but they typically begin in childhood. They include bowed or bent legs, short stature, irregular skull growth, dental pain, joint pain, and bone pain.

XLH is caused by mutations in the PHEX gene on the X chromosome. The mutation leads to an overproduction of FGF23, which is a growth factor that is responsible for the regulation of the re-absorption of phosphate into the kidneys. Without this re-absorption the phosphate wastes in the kidneys, leading to lower levels in the blood.

This disease is typically diagnosed in childhood. Doctors will look at family history and a physical exam to begin the diagnosis process, followed by imaging, blood, or genetic testing. After it is confirmed that one has XLH, treatment is meant to improve the bone and joint pain, as well as prevent skeletal deformities. Treatment includes growth hormones, corrective surgery, and premature skull fusion.

About the Patient Seminar Series

About 75 members of the Goldman School of Dental Medicine (GSDM) community attended this event, all with the aim to spread awareness and understanding of rare diseases. One of the main diseases that was spoken about was XLH. The series was organized by Dr. Yoshiyuki Mochida, with one of the main speakers being Gin Jones.

The focus of the discussions was education about these rare diseases, as many medical professionals are not well educated on these conditions. This lack of knowledge leads to issues with diagnosis and treatment. Many people go through their entire lives without a diagnosis due to this dearth of education.

Jones spoke of her own experience, especially her dental problems. She has had a root canal on every tooth in her mouth. She mentioned all of the difficulties that came with XLH, such as constant spontaneous abscesses. Fear of judgement is another issue that Jones and others face, as oral hygiene is a concern that comes with XLH.

The major takeaway that Jones and others want people to understand is that even though certain diseases are rare, they should not go ignored or judged.

Find the source article here.


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