Annabelle’s Journey with Morquio Syndrome
June 28, 2013
Annabelle was diagnosed unusually early for a child with Morquio Syndrome.
At her four month pediatrician appointment, I pointed out a peculiar curve in her lower back. We were advised for x-rays, which led to two months of repeat labs, urine test, and a skin biopsy. At six months, it was confirmed that Annabelle has MPS IV (aka Morquio Syndrome.)
Over the next few months, Austin and I trekked to many hospitals for 2nd opinions about treatment plans and to learn as much as we could about this disease. I called within the states and abroad to many doctors and researchers and the answers never changed. There was no treatment, no cure, and very little research to hold on to hope for. As you can imagine, we grieved deeply as we adjusted to this new world of doctors, appointments, researchers, and sadly coming across so many people that have never even heard of this disease.
Nonetheless, Our little trooper forged forward with us….really not knowing any different. At two years old, she had her first major surgery to decompress her cervical spinal cord and stabilize her neck. This is a common symptom of the damage caused by Morquio Syndrome. At 2 years old, she pulled through an excruciatingly long surgery and showed us her courage and strength. You would think that a halo almost the size of her, sitting upon her shoulders might slow her down…oh no…she figured it all out. Within two weeks she was moving around the whole house, dancing, singing, and just being a kid.
At 4 years old, Annabelle faced her second and third major surgeries to reconstruct both hips. The damage from the disease had changed the bone structure in her hips so that when she walked there was no hip shelf. It was very painful for her and debilitating.
After two surgeries and two long weeks in the hospital, we emerged with a next major challenge…a spica cast from chest to ankles. 6 weeks in that cast was challenging. It took a year of intensive physical therapy 5 days a week for her to learn to crawl, walk, and climb stairs. Although it was one of the toughest surgeries and recoveries, it was well worth it! Our orthopedic surgeon, Dr Mackenzie has taken great care with Annabelle and she is walking, running, and enjoying life.
Among those major surgical events, she has had other minor surgeries, hearing loss, corneal clouding, with countless doctor’s appointments.
In the meantime, as her mom, I became a Board of Director for the National MPS Society where I spread awareness, raised funds for research, and talked to many, many Morquio families around the globe. We have helped to fund three research efforts, two of which were formal grants to move research forward through the National MPS Society. We have also meet with senators and congressmen each year to educate about the great need for NIH funded MPS research to save lives along with advocating for many related needs of MPS individuals and families. Being a part of larger groups such as National MPS Society, NORD, RDLA have helped us to stay knowledgeable about research and what is needed to get effective and promising treatments.
Annabelle is now enrolled in a enzyme replacement therapy (ERT) clinical trial with BioMarin Pharmaceuaticals to slow the disease progression. FDA approval is expected to 2014. We have seen signicant improvement in her stamina and well being since she started the trial in September 2011. Before ERT, Annabelle struggled to play at the playground with peers and keep up. Annabelle could not walk through a grocery store or take a outdoor walk without assistance. After almost 2 years of ERT, Annabelle is riding bikes, playing on the playground, participating in recess games, taking swim lessons, and continues to amaze us with her increased stamina. Annabelle was not able to participate in life as a kid before the treatment….NOW, she is doing what most kids are doing her age. She is happy and proud!
We are excited and hopeful for Annabelle’s future. I believe we are on the path to change the course of this disease.
Sign up for updates straight to your inbox.