Hole in the Wall Gang Camp

The Hole in the Wall Gang camp in Ashford, Connecticut, in collaboration with the National Organization for Rare Disorders is holding a spring weekend for families dealing with rare disorders, May 31 to June 3. It's free, and the activities include fishing, campfires, arts and crafts, as well as opportunities for parents to chat with others in similar circumstances.

If you live in the northeast and your family would be interested, you can apply here: https://rarediseases.org/wp-content/uploads/2018/01/2018-Spring-Family-Weekend-Application.pdf

Tips for sending your XLHer back to school

Today, our guest blogger is Jennifer West, the mother of a spontaneous XLHer, who lives and works in the Wisconsin Northwoods.

If you're a parent with young children, you're probably buried somewhere under a pile of school registration forms, early-release forms, health forms, snack forms and help-me-get-to-know-your-child-better forms (I filled that one out last night. Truth). 'Tis the season for organizing and setting new routines.

But when you have a child with XLH, those forms can take a tiny bit longer (how many times can you write X-linked hypophosphatemic rickets without your hand cramping up?). You probably have a few extra worries, and you're probably anxious at handing off an expensive bottle of Calcitriol to the school nurse. To help you, here are five things I've learned about school, my child and how to handle XLH.

1.     Talk to the right people; provide the right resources

My XLH daughter started second grade this year. Each year, I've talked to her primary teacher about XLH before or on the first day. I also provide the URL for the XLH Network website, and all of her teachers have taken the time to research her condition. I make sure to include the gym teacher, so that person is aware of any physical limitations.

2.     Organize meds. Know who's giving them. Check in often.

We've had various people administer our daughter's meds, including daycare providers, school nurses, sitters, grandparents, etc. My daughter takes a liquid form of Calcitriol, rather than a pill; the dose is small and the syringe is hard to read, so I go over the instructions very carefully. We now provide a "guide" syringe where we've marked the dosage with a piece of electrical tape, just to avoid confusion. (This helps with overnighters or play dates when you have someone new giving meds.) Also, check in occasionally with the office or school nurse to make sure they have enough of everything.

3.     Supply extra comfort care.

Provide the school with a non-prescription pain med just in case it's needed. Also, talk to your teachers about what to do if your child is in pain. Maybe the first approach is heat or rest, and if that doesn't work, go for a pain reliever. Have a plan on how to deal with associated aches and pains. You can even consider sending in a heat wrap for the teacher to keep in the classroom.

4.     Give age-appropriate answers

When our daughter first went to school, I was worried about how she would respond to inquisitive classmates. What I found out was she had her own answers to their questions. When asked why she takes medicine, she tells her friends, "To help my legs grow better." Consider crafting some simple, age-appropriate answers with your child. It's amazing how quickly kids dismiss things. They don't typically need an in-depth answer. They just need an answer. 

5.     Just breathe.

Enjoy the school year, moms and dads and caregivers. You are an amazing bunch. XLH is only a tiny part of our kids' stories. They have so many things to discover and they'll surely surprise us in so many ways this year. Just. Breathe.

A Different Kind of Advocacy

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.