Some weeks get away from us, no matter who we are or how organized. It doesn’t matter that I use multiple colors of highlighters to mark off what I’ve done, what’s important, what can wait. Some weeks just creep up on us and all of a sudden it’s Saturday and there’s that oil change you scheduled in October when you bought your car… before you thought about the snows that could be melting, the rain that might be falling or the black ice that might be forming. Before you thought about Saturdays as breakfast in bed because your husband was home before 8 all week celebratory days.
And then you realize, that while you’ve taken care of the house, the dog still needs a bath (but seriously, so do you), your family is well cared for… you remember those amazing people that make your life a bit exciting. The people who read what you write and seem to enjoy it. The ones who email you all week asking questions and wanting answers! Eeeek!
I’m so sorry I didn’t get more screen-time in with you this week, but I promise I have been busy- from a sponsored post about the awesome healthcare clinics at Walgreens (HERE) to a phone conversation about a documentary, text messaging back and forth with a POLP-to-be (happy Baby Shower to her this weekend!!!!), and even a few biology students asking me questions… it’s been a busy week!
With that, I wanted to share with you some of my answers to “the next generation’s” questions to me about Achondroplasia. I love the inquiry, the research tactics, and embracing the difference in schooling from when I was a kid. The MLA format, the library cards, and that my family owned a whole collection of encyclopedias. I did research in the form of interviews of course, but I had a back and forth conversation. Asking to elaborate, or explain what my interviewee meant. When I answer email questions, I try to anticipate a deeper question and give full answers. Do I think it all gets through? Probably not, but I hope that some of it does, for sure!
Without further explanation:
1) Does your daughter face any challenges that most children do not have to face?
With any impairment labeled as a disability there are going to be challenges. I think, as a parent, it is my duty to make sure that Addie takes on these challenges knowing that they are just larger mountains to climb, not impossible obstacles. As far as schooling goes, there will need to be physical adaptations, but there is no mental impairment related to achondroplasia- and at 22 months, she’s already too smart for her own good.
2) When you found out that your daughter was diagnosed with Achondroplasia, did you have little or no information?
With the internet at my fingertips, I became educated fairly quickly. I also had an inkling there was something different– call it Mother’s Intuition, and had done some research on achondroplasia. As with any rare genetic diagnosis, I was shocked, but not surprised (if that makes sense) and truly felt like I was prepared for the news. I was not upset, but I was scared and the internet searches weren’t helpful at first. With some digging and starting the blog, I made connections quickly and learned that Addie would be just fine with proper care and treatment from the right facilities.3) Does your family or your partner’s family have any history of Achondroplasia?No. Achondroplasia is a genetic mutation of the FGFR3 gene. It actually works too well and essentially sends a signal to the bones to stop growing before they are ready. In 80+% of people diagnosed, the gene is a spontaneous mutation with no familial tracing.4) What long term side effects come with this disorder?There aren’t “side effects” per se, but there are things that will be different for Addie as she ages. Before her growth plates close we will have to address bowing in her legs (if there is pain or physical hindrance). We also do half yearly (or yearly) sleep studies to make sure that her sleep apnea is not getting worse- which is a common issue with achondroplasia due to a narrowing of the foramen magnum, as well as smaller facial features and large adenoids and tonsils. The former responsible for central sleep apnea, the latter for obstructive.As you research you will find vast differences in issues stemming from dwarfism in general, and more specifically with achondroplasia- from spinal stenosis to bowing to hydrocephalus and shunt systems. Thankfully Addie does not have these more serious issues. At 10 months she underwent minor surgery for ear tubes, which brought her hearing from legally deaf to acceptable and in the following 6 weeks her speech developed rapidly. Fluid in the ears is common, which when left undiagnosed can lead to severe learning issues and infections, but many specialist out there work closely with patients and the AAP Achondroplasia “guide” (LINK HERE).5) Is there treatment for it? If so, what kind of treatment?There is no treatment because there is no disease. This is a mutation of a gene that makes a person a bit different, but does not need a cure. There is something called limb lengthening that, IN MY OPINION, is not necessary, safe or an option for Addie. Of course this is something that we will discuss with her, as it is an option out there, however, it is a painful procedure and has many complications. Contrary to some popular beliefs, growth hormones DO NOT treat achondroplasia as it is not a hormone deficiency.There are tests and research going on to possibly trigger the gene which may, in the distant future, help people with achondroplasia gain some growth.
Lastly, we do not consider anyone with dwarfism to “suffer from” the diagnosis. There are so many things out there that cause suffering- with education and advocacy work the emotional issues that are associated with the diagnosis could be lessened and more medical care could be given to those in need. Currently there are about 4 teams in the country who specialize in skeletal dysplasia, with a geneticist, orthopedist, ENT and surgeon. In the future, I hope there is more interest in the medical community to help the dwarfism community live longer and healthier lives and less research from Big Pharma to “fix” the gene.
What would you want students to know for their projects? I would love other parents’ thoughts so that I can answer all questions as fully as possible in the future!
Happy weekend, Reader! See you Monday!