What if you could take a pill to make your achondroplasia go away? No more risk of spinal or foramen magnum compression. The chances of central and obstructive sleep apnea would be less. And there wouldn’t be that bothersome task of finding a bike helmet to fit. Would you take that pill? If it would lessen your child’s chances of social and health struggle, would you consider giving it to them? Well, BioMarin is in the process of developing a drug that could change achondroplasia (FGFR3) completely. BMN-111 is in clinical trials right now.
My family actively participates in research during the LPA National Conferences in the medical clinics. But, it is research to help guidelines and education for other medical professionals (doctors, nurses, therapists, etc.). From blood pressure to weight to audiology, we want to help people understand how to take care of the next generation. My husband and I kinda make a game of it too: who has the best blood pressure or BMI?
I’ve lost several very close friends/family to cancer. That, in my opinion, is something to cure. My height, snoring, facial structure, stenosis, and discrimination as an LP is not something to cure. We as human beings have more of a chance of getting cancer with all the carcinogens in our environment since we messed up this planet, unknowingly and knowingly.
If you read many medical papers describing achondroplasia, it will describe the most dismal consequences of having a child with this dwarfism. Often, new POLPs (Parents of Little People) will Google “Achondroplasia” and read all about these horror stories the medical community illustrates in their medical papers and research. They will be terrified, searching for some glimmer of hope. *Sigh!* Thank God for the internet, but DARN YOU INTERNET, I say. As great as the internet is with providing information and connecting people, sometimes it will flood you with information. Look to adult LPs like my husband and I (Dwarf Mom and Dwarf Dad) and you will hear different stories. Our lives are similar, but just as different as you and your classmate from high school. One thing that is similar, we have learned to adapt and thrive in this world.
My husband has pseudoachondroplasia and I have achondroplasia. We lived very different lives. When I was born, there was no inclination in utero that I had dwarfism. But, when I came into this world, I was immediately diagnosed with achondroplasia in the delivery room. In the 1970’s, that was simply amazing how they could just diagnose it immediately. Needless to say, I became a member of Little People of America by 3 months of age and saw Dr. David Rimoin at UCLA Harbor General for my care. Throughout my life, my parents brought me to specialists and Dr. Rimoin every year. I was dragged to LPA chapter events and attended some LPA National conferences, when we could afford it. My husband was diagnosed at age 3, when he fell off the typical growth chart. He did not see Dr. Rimoin until age 8, when he began to have health issues. He joined LPA at age 12 and went to several more conferences than me. Coming from a military family, we couldn’t afford to travel every year across the country to this amazing conference. But, my husband attended more conferences, so he had a group of friends within the organization. Whereas I had just a couple of people I knew and saw. I did not have friends as much as I had acknowledgement that this was my community.
I went through the typical emotions of a dwarf child born from Average Height parents: Why me? I wish I was taller. I wish I was normal. There is no way I look like them. I hate going to these events. I hate people staring at me. But, through those tough years, I had an amazing support system. I was always told there were no limitations to what I could do. My grandmother gave me the confidence to stand up to anyone — well, that didn’t come to full bloom until later. The classroom bullying experiences and teasing were outnumbered by my amount of friends. Physically, I didn’t have many health issues. Eyeglasses were prescribed to me in third grade. At age 12, I had braces and several teeth extractions years prior to that. I had sleep apnea at age 14. That was taken care of with a tonsil and adenoid removal. My ear infections were annoying, but I didn’t need ear tubes. Needless to say, I went through my childhood pretty unscathed by my dwarfism. Most of it I feel was due to my overwhelming support of people and LPA involvement. Health-wise, it was probably mostly luck and faith.
My husband’s first introduction to dwarfism came at age 3. He was diagnosed by his astute pediatrician through an x-ray of his hand and confirming in a medical book. Just at the age when I already knew I had dwarfism and saw many specialists, my husband had just been told that he was short because of his dwarfism. He was just then introduced to the teaching hospitals where they tried to learn and treat people with dwarfism. This shocked him and his family greatly. When they were seeking help and guidance from the specialty doctors, it felt like just getting information from him via x-rays, measurements, etc. versus directing his health. Little did they know, the doctors were trying to guide him as best they could, but we were infact being studied to help future generations. Ergo this is how they wrote all those papers you see now on achondroplasia and pseudoachondroplasia. By the time he was in 8th grade, he had already undergone an osteotomy on both legs to correct bowing and major back surgery for kyphosis. Just as I did, he had orthodontic issues, but with two rounds of braces whereas I had one round for only 1.5 years. Despite all these surgeries and downtime, he was very academically successful with a flair for student involvement.
So when BioMarin’s new drug became a topic of discussion at our dinner table, there were mixed feelings. My husband and I traveled different paths in our childhood. And our family values and self identity are anything but similar. But, we don’t expect to agree on everything. After all, we can’t even agree on grocery shopping items!
BioMarin’s effort to “solve” dwarfism is not something revolutionary. They’re just the first ones to get this much publicity and they are further along in user trials. My culture and religion define my values as a person with dwarfism. If it wasn’t for my upbringing, I really feel like I would have spiraled down, thinking I should look more perfect. I would think that if I just had a chance to change appearance, my life would be better. After all, thoughts like these go through the minds of many LP kids who are the only dwarfs in their families. Ask me today, I would never consider taking a pill to cure my dwarfism. There are no guarantees in life. With all the technology and medical advancements in the world, it will not guarantee me to live the most perfect life.
My husband is more open to the idea of BMN-111 to possibly help alleviate medical issues associated with achondroplasia. However, he would never subject our son to being a guinea pig and trying out an experimental treatment. He wouldn’t even consider it until it was fully tested and proved to be safe with no long-term side effects. There have been too many drug treatments that seemed promising initially but had nasty consequences. And we’d hate to see any families causing more harm to their children than good by experimenting with this supposed dwarfism cure. Also concerning is the expected years of daily BMN-111 subcutaneous injections to give to your dwarf child while they are growing. If other families are willing to have their children be part of this trial, we are understanding and supportive. It’s just not something for us at this time.
More importantly, both of us feel that our lives are not that bad that we need to be cured. We have had success in our education, careers, and built a beautiful family. Yes, we have had and will continue to have medical issues related to our dwarfism. If we had taken a magic pill (or injection) to cure our dwarfism, there is no guarantee that our lives would have been as great as they have been. So we say to all the new parents out there that are nervously considering BMN-111 as a achondroplasia treatment or cure, it’s OK to keep their dwarf identity. Most likely they will be fine and live long, happy lives.
Awesome post. I love learning from you and your family and your husband’s experiences as well.
Thank you for sharing your thoughts so openly and profoundly. <3
Glad to gain your insight. Most of the Pharma sites are not even bothering to address that there are humans with emotions involved, but focusing on the “several hundred thousand dollar a year potential costs and profits”. Many of the sites also refer to the dramatic increase in BioMarin’s stock value but not one gave any information about patients. I’ve never looked on Achrondroplasia as a curse that had to be eliminated at all costs for the good of society but that was the thrust of these articles. I have a good friend who had rapidly lost his eyesight during high school and by the time I met him could only differentiate between the brightest lights and total darkness hence he never had any I idea what I look like but judged me solely on conversations, I think about that a lot when I first meet people.
I once asked my daughter with achondroplasia if there was a pill to make her average height, would she take it. Her response “only if there was one to turn me back”. 🙂