Session Seventeen: October is Dwarfism Awareness Month

Session Seventeen: October is Dwarfism Awareness Month          

Did you know that October serves as Dwarfism Awareness Month? Did you know that our Miracle Mayah has a rare form of dwarfism called Acampomelic Dysplasia? It’s quite possible that you didn’t know that because we don’t mention it too often.

For the longest time, like a really long time, we didn’t share her official diagnosis. A lot of that was because Mommy was in denial and consumed with fear. If her condition had a name, that would make it permanent, and I just wasn’t ready to accept that. Again, I was overcome with fear. Another reason for our “secrecy” stemmed from the fact that we didn’t receive our daughter’s diagnosis until she was a year old.

That terrifying first year was clouded with uncertainty. Not only did we not know her underlying condition, but we also didn’t know if she was going to survive. During that first year, we almost lost our daughter more times than we care to recollect. Under such trying circumstances, our life was put into perspective. Her diagnosis didn’t matter to us, so when it had an official name, it was just yet another medical term to add to her substantial medical file.

In recent years, our family, through the grace of God, has put the fear away. We have found our peace and a deep appreciation for all the little things in life. I no longer fear the term Acampomelic Dysplasia (ACD). I know that no medical term can define our daughter, but it does describe her. ACD comes with an extensive list of birth defects. Most of these were known to us while she was still in the womb, such as clubfeet, micrognathia (small chin), shortened limbs, cleft palate, underdeveloped shoulder blades, and suspected airway problems.

We were given no hope that our daughter would survive. But we chose to have hope anyway, and we chose to give her a chance at life. We have never for one second regretted that choice. That isn’t to say that our life isn’t difficult because it most certainly is. But we have learned many valuable lessons from our daughter, who was given a death sentence in the womb. Namely, we have witnessed how joy can outshine any darkness. In the face of so many obstacles, our Miracle Mayah’s smile shines ever brighter. Her perseverance and joy define her much more accurately than any medical term ever could.

However, dwarfism is a big part of our life because our daughter’s medical condition affects her in a significant way. Her shortened stature, the most obvious feature of the many types of dwarfism, is just the beginning. Our daughter’s form of dwarfism was caused by a spontaneous mutation on the SOX9 gene, which affects her skeletal development. Her cartilage is affected as well, which is why she has a floppy airway.

Our daughter is trach- and ventilator-dependent because of tracheomalacia and bronchomalacia. Her clubfeet have undergone many surgeries and braces but remain an ongoing issue for her. She was born without an ACL in her right knee. (At age three she had surgery to harvest her iliotibial band to create an ACL.) That surgery was the catalyst to Mayah being able to walk! But with that incredible milestone, came a worsening of her spine. Our daughter has scoliosis, lordosis, and mild cervical kyphosis. She has undergone 18 months in a plaster cast on her torso, followed by seven months and counting in a nighttime bending brace, and will have MAGEC rods attached to her spine next spring. She has very poor vision and exotropia in both eyes, for which she wears corrective lenses with a very strong prescription. She has severe hearing loss, resulting in the need for cochlear devices. Her arms are fused in a fixed position, a condition called radio humeral synostosis. (An incredibly rare condition that isn’t associated with her form of dwarfism.) I could keep going, but you get the jest of it!

Yes, our girl has a whole lot going on! But absolutely none of those things from that very long list of medical conditions or any of the others have ever dampened our girl’s spirit! She is a fighter. Dwarfism changed our world, and for a long time, it terrified us. Our daughter’s type of dwarfism is fatal. The diagnostic sonographer was indeed correct when he said our daughter couldn’t survive outside of the womb. She is a living miracle, and we get a front row seat every day to watch her inspiring life unfold.

We aren’t what I would call advocates for dwarfism awareness, but we are the biggest fans of a little lady who has dwarfism. And we are very proud of her!