A new resource guide has been developed for X-linked hypophosphatemia (XLH) by Prime, a medical education firm. This project has been supported by Ultragenyx Pharmaceutical Inc.
The guide provides resources to help patients understand their own condition, explain it to their family, and discuss it with their doctor.
The toolkit is downloadable and includes –
- A “Conversation Starter Guide”
- Questions you should ask your doctor
- A guide to help you share your thoughts, preferences, and concerns, with your healthcare team
You can bring this document with you to your doctors appointment for an easy reference. It’s important to be comfortable talking with your care team. If they don’t know your concerns, they won’t be able to address them. Ask the questions that are in the back of your mind. Discuss your uncertainty and any apprehensions you might have. Remember that your care team is there to support you, but they need to know what you need.
How to Talk About it with Your Family
It may be difficult to initiate a conversation like this with your family. But know that in the end it will be beneficial for all involved. An open dialogue will make things more comfortable for everyone, and will help to make the condition a more manageable one.
Without this dialogue, your family may have questions they are dying to ask but feel too uncomfortable to. If you feel uncomfortable starting the conversation, here are some resources you both can reference to help address your questions and needs.
- The XLH Network
- Seattle Children’s Hospital
- NIH
Why Your Family Should Learn About Your Disease
Families are often a wonderful resource for support. If they know what you’re going through, they’ll be able to better offer the specific support you need.
Further, XLH is a genetic condition which means that it could affect your family members. It’s important for them to know of this possibility so that they can recognize potential symptoms. Then, if they are diagnosed with the condition, they’ll already have a good idea of what to expect.
The X of XLH stands for the X chromosome, which is where the gene that causes the condition is located. Mothers with the condition have a 50% chance of passing it on to their children. Males and females are equally likely to inherit the disease. However, when it is the father that has the condition, he will pass it to his daughters but not his sons.
How do you Test?
Unfortunately there isn’t one simple test for XLH. Diagnoses require a wide variety of tests which may include a blood test, x-ray, dental exam, urine test, or gene mutations.
The Importance of Early Diagnosis
Earlier diagnosis means better care and fewer complications.
Symptoms include
- Short stature/slow growth
- Bowing of the extremities
- Infections in the teeth
- Bones in the skull fusing faster than normal
- Low levels of phosphate
Check out these resources and more here!
