Hearing your child has XLH is a scary thing, especially if it’s the first child in your family to be diagnosed with it. Member Melissa Braswell is here to share what she learned when her child was diagnosed with a spontaneous case of XLH. Melissa describes herself as "the blessed mother of a joyful XLH patient who loves life and desires to bring people together."
First, make sure you've got a correct diagnosis. Our 20 month-old was initially simply diagnosed with rickets. We saw a pediatric endocrinologist who confirmed that she had XLH and not nutritional rickets.
Second, see a doctor with XLH experience. I’m so thankful our daughter’s pediatrician referred us to a pediatric endocrinologist, who had provided care to other XLH patients. If our child had been treated for nutritional rickets, the medication wouldn't have addressed her need for extra phosphorus.
Third, educate yourself. The XLH Network has a lot of great information about XLH. Do your research. Ask your child’s doctor questions and write the answers down. A nurse once told me, “Understand your child is not here because she’s sick. She is not a sick child. This is not a life threatening disease.” That helped calm all the emotions I was feeling at the time, like confusion, resentment, anger, denial, sadness, and self-doubt.
Fourth, prepare to be strong. You and your family can handle what lies ahead. For my family, the hardest part of this journey so far has been comments from people who have no idea what is going on in our daughter’s little body. Most of them are well meaning people, but as her mother, it just hurts my heart. I use moments like that as an opportunity to educate others who have never heard of XLH. I also share how blessed we are that it is a manageable condition, even though it can be trying at times. It gives me satisfaction and an opportunity to share how great our daughter is handling her condition.
Finally, get connected. It helps to know that we are not the only family going through this. I highly encourage joining the XLH Network! It is a wonderful support group full of people who can truly empathize with you. Beyond that, if you haven’t shared the diagnosis with family and friends, please learn from my mistake! We were so shocked by the news that our child had rickets that we didn’t know what to do with the information. We were trying to let it sink in, but I wish we had told our family sooner so they could have been there for us. After we told our family and friends, a weight lifted from our shoulders. They helped carry the burden during the most stressful time of the initial diagnosis.
Know you are not alone and with the help of family and friends and the XLH Network, your family can and will thrive!