Annabelle was diagnosed unusually early for Morquio. At her 4-month pediatrician appointment, I pointed out a peculiar curve in her lower back. We were advised for x-rays, which led to 2 months of repeat labs, urine test, and a skin biopsy. At six months, it was confirmed that Annabelle has MPS IV (aka Morquo 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 hope to. 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….not realizing any difference in her life. At two years old, she had her 1st major surgery to decompress her cervical spinal cord and stabilize her neck. This is a common symptom of the damage caused by Morquio. 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 2nd and 3rd major surgery to reconstruct both hips. The damage from the Morquio 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 stair climb. 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, I have spread awareness, raised funds for research, and talked to many, many Morquio families around the globe. We have funded 3 research efforts/ 2 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.
Annabelle was enrolled in a enzyme replacement therapy clinical trial with BioMarin Pharmaceuticals to slow the disease progression from 2011-2014. FDA approval for Vimizim was achieved on Feb. 14, 2014. We have seen significant improvement in her stamina and well-being since she started the trial in September 2011.
To learn more and follow our story, please see our Caringbridge journal blog for updates about Annabelle's medical journey along with various interviews to raise awareness.