Living With Wolfram Syndrome – Lauren Gibilisco

Trust Your Gut

I love to exercise and it gives me something to do during the day. So much so that last Wednesday I did 4000 leg lifts throughout the day. By Thursday my legs were hurting very badly and my mom said it was probably from doing too much exercise. She told me no exercise for the next several days because I probably strained my muscles. I rested all day Thursday but on Friday morning they felt a little worse. My mom rubbed some Ben-Gay on my legs, gave me some Ibuprofen and again said to rest. I had plans on Saturday morning to go out to breakfast with a friend and do some shopping. I made it through breakfast but by the time she got to the store my legs were really hurting. I just sat in the car while she picked up a few things she needed. By the time I got home I could hardly walk. My mom had an appointment and told me to go soak in the tub. She was gone two hours and during that time I felt very paranoid and called her four times. I asked her if it could be low sodium. I had very low sodium two years ago. For those that know sodium levels, mine was 109. She said no but after she hung up the phone she called my aunt who is a nurse. My aunt said I would be confused not paranoid. She said it wouldn’t hurt to have me eat some salty foods like ham and see if I felt better. So my mom stopped and bought meat lovers pizza that had bacon, pepperoni, ham and sausage on it. She brought it home and I ate it and said my legs were feeling better. My mom waited for my dad to come home and then she called the emergency room to talk to the doctor. She asked if we could come up and get my sodium checked. She described how my legs hurt, my exercises and being paranoid. He also said I would be confused and it sounded like muscle strain. She told him that last time I was very paranoid also. He said to wait till Monday and see my regular doctor. My mom had to do some work at the store so she told my dad to watch me carefully and call her if anything happened. About 45 minutes later I had my dad call her. I was feeling very weak and felt like passing out. My jaw was hurting badly and my mouth was quivering. My mom said she would be right home. She got home and took me immediately to the emergency room.

By that time I was feeling very bad and was very quiet. For those that know me, you know that would be a huge sign that something was wrong. LOL. The hospital just installed a new computer system and so we had to input all my information into the system. It took forever. My mom told them to test my sodium while we were waiting. It was an hour later before we had the results. The doctor came in and told us that I had a sodium level of 121 and would have to be admitted. Lord only knows how low I would have been if my mom hadn’t had me eat that pizza. They immediately began an IV sodium drip. All this time my mom was answering their questions. First she had to tell them all my medications, which are 11 different ones and the dosage. She always carries a list so she can just hand it to them. They didn’t know what most of these drugs were, and of course had no idea what Wolfram Syndrome was. As my mother was explaining everything a nurse asked my mom if she was a nurse or doctor. She laughed and said, no, she was just an informed mom of a child with a rare disease that no one knows anything about. She said she had a team of people that have taught each other so very much about Wolfram Syndrome. That team was all the mothers and dads. She was very impressed with my mom’s knowledge. About this time I started talking again. Yep, ….I was feeling much better and my jaw didn’t hurt anymore so I was able to start talking nonstop again. I was on my way to recovery.

My mom is going to write the next few lines.

For those reading this, I know you understand what I was going through. Bottom line is trust your gut. If it feels wrong than it probably is. Her symptoms were not the usual ones, but what with Wolfram Syndrome are. Don’t be afraid to respectfully disagree with your doctor and insist that they run tests. There is no one who knows their child better than the parents. Doctors are not always right. This statement does not include Dr. Fumi, Dr. Marshall. Dr. Hershey, Dr. White, Dr. Hoekel etc….. We could be wrong sometimes but very often we are right. Trust yourself and advocate for your child.