Treatments & Cures

3/8/14

My Doctor's Visit 

"Beep...beep...beep..."is the noise my alarm clock made at 5:30 this morning. Today I woke up earlier than normal in order to make it to my doctor's appointment on time. Being a person with achondroplasia dwarfism, I have to make frequent doctor's visits. I probably go to the doctor once a month in order to ensure that there are no complications occurring within my body. My doctor's appointment this morning was particularly interesting, which is why I am making a post about it. My doctor and I discussed treatments for achondroplasia and cures. 

There is currently no cure for this disease, although there are certain drugs being developed, drugs that could potentially be a cure. Many researchers in the United States and in many other countries are currently studying various drugs that they believe would be a cure for achondroplasia dwarfism, which really excites me. BioMarin is a a pharmaceutical company based in California. They have developed a drug called BMN-111. This drug could one day be a cure for the thousands of people, like me, who are living with achondroplasia dwarfism. According to Little People of America, the drug "has been shown to block the effects of too much signaling from the achondroplasia FGFR3 mutation" and when it was given to mice with achondroplasia, it "restored normal growth" in them. I cannot wait to see if in the future, BMN-111 is a cure for achondroplasia! Click Here to learn more about BioMarin and their drug. 😊😊

There are various ways to treat this disease. Every person with this disease is unique and every person has their own treatment plan, given to them by their doctor. Some people take hormones to increase their height. In some cases, surgery will be given to people with this disease in order to help their bones and correct abnormal curves in their spine. I have had 3 surgeries (one when I was a baby and one when I was a teenager) to fix abnormal bone growth in my spine. I do not take hormones to help be grow, and I visit my doctor very frequently. 

This morning, as my doctor explained, I most likely be living with achondropalsia dwarfism for all of my life, unless a cure is developed before I die. My doctor is a friend of mine and she told me that I need to value each day and not let my disability get the best of me. Life with achondroplasia can be very hard, always being so short and always standing out, but I will not let it get the best of me.