The last couple weeks, we've been focused on advocacy at the macro level, working with researchers and politicians. There's another kind of advocacy at the more micro level that we need to do. Rachael Jones (no relation to Gin Jones), herself an XLH patient, and the parent of a XLHer, is our guest blogger today, sharing her thoughts on advocating for the best interests of a child with XLH.
Our two-year-old son was diagnosed with XLH when he was a year old. We started having him tested when he was three months old, thinking that the diagnosis would come quickly, given the family history. It still took several months to determine for sure that he has XLH.
While getting the diagnosis, and since then, with treatment, we have had to be our son's health care advocate. At times, it's been quite challenging, but we understand that nobody else is going to advocate for our son, so we must. We have had to travel a lot and reach out to XLH experts in order to determine if the course of treatment that our son is on is the best for him. We live in a small town, but we are willing to travel as far as we need to in order to find someone who either has knowledge of XLH (which is rare) or who is willing to learn.
We've found that being responsible parents can be quite stressful. There were times when our son was younger that the medical professionals had difficulty finding his veins and had to poke him several times before they could find a vein. It was heartbreaking to see our son cry and hold his arms out to us to pick him up and take him away from the pain, but we knew we needed to get these blood tests done. My husband and I are learning that being parents, and especially parents of a child with XLH, means that sometimes we have to do the hard things in order to do what is in the best interest of our child.
We still have his blood drawn every three months to make sure his levels are within an acceptable range, but it has become easier. I think he has to be one of the bravest two-year-old boys. Now when we walk into the lab he asks if he is going to get an “owie,” but he doesn't cry. Afterwards, he goes around showing everyone his colorful band-aid.
In advocating for our son, we searched online and found the XLH Network. I was born with XLH (as were my mother and brother), but had never found good information. I also connected with others with XLH through the list-serve and even attended the XLH Day in September. It is nice to know that my husband and I are not alone in this journey. We feel a sense of community and support from the XLH Network as we try to advocate for the best treatment for our son.