Sunday, October 31, 2010


Earlier this month, a company called BioMarin announced a new drug program that could reverse the physical affects of achondroplasia. According to the news release, the drug (BMn-111) "is an analog of C-type Natriuretic Peptide (CNP), a small cyclic peptide that is a positive regulator of bone growth. It is produced and has a receptor in the growth plate, and along with the fibroblast growth factor receptor 3 (FGFR3), regulates normal bone growth." Much of the release included scientific and, interestingly, market, language I don't understand. But from what I do understand, it looks as if studies of BMN-111 have shown that the drug reverses affects of achondroplasia in mice, and that a 'clinical trial' of the drug won't begin until 2012. My favorite part of the release I believe emphasizes that the statement, in my opinion, is more about the economic market than so-called scientific progress. Evidently, what the release says about achondroplasia is considered a 'forward-looking statement.' According to the release, "Stockholders are urged not to place undue reliance on forward-looking statements." I'd like to know if people of short stature are supposed to rely on the statement. More pressingly, I'd like to know what we are supposed to think about the statement.

In terms of so-called scientific breakthroughs, this is the not the first one relating to achondroplasia. In the 1990's, scientists identified the gene that carries achondroplasia. At the time, people wondered if the discovery would lead to fewer parents of average stature carrying their child to term if the embryo was identified to carry achondroplasia. A decade and a half later, I don't know how many parents are aborting pregnancies because of dwarfism, but, as far as I know, eighty percent of people of short stature are still born to average height parents. About ten years after the dwarfism gene was discovered, a procedure called Preimplantation Genetic Diagnosis was announced. Through the procedure, a parent could select from a set of fertilized eggs, theoretically allowing a parent to select quote unquote healthy eggs. Soon after the announcement, Little People of America released a position statement on PGD. The LPA statement focuses on choice, saying if such a procedure is offered, people must have the option to implant any available, whether or not it carries dwarfism.

I am no scientist, and have no idea what 15 or five years means in the scientific breakthrough community. Is a decade an eternity or barely a heartbeat? It seems to me that both the gene discovery and PGD, to this point, have had relatively little impact on the community. This probably has a lot to do with costs. My guess is that BMN-111, if it develops, will have little impact on the coming generation of children with achondroplasia. That said, I am still troubled pgd, BMN-111 and any scientific announcement that implies dwarfism is a disease better avoided or cured. For thousands of people living with dwarfism, their families and friends, and their future children, dwarfism is a culture. As a culture, both dwarfism and general, we are better off investing, not in drugs that make mice bones grow, but in legislation like Kennedy Brownback, anti-bullying measures that cover a range of marginalized groups, disability and dwarfism awareness initiatives, and accommodations, all in an effort to equip people with dwarfism to pursue the same opportunities offered others.


  1. As a parent, if given the choice, I would not hesitate in providing it to my children if they had achondroplasia. But, I would not love them any more for looking 'normal' or any less if they had all the physical characteristics of dwarfism. Who wouldn't want their children to have the same opportunities as any other children and spare them hardships whether they be medical problems or social difficulties and bullying.

  2. Can you explain why dwarfism is not a disease? For someone who has no familiarity with the issue.