After months of poking and prodding, we received Brielle’s devastating diagnosis of Spinal Muscular Atrophy, Type II, at 16 months of age and her Doctor told us there was no treatment or cure for this devastating disease. However, we have found otherwise and there is promising research taking place now that we follow daily online.
In 2009, Brielle was accepted as part of a compassionate study through the University of Utah SMA Research Center aimed at arresting symptoms and assisting in rebuilding strength. This study requires her to take potent and highly toxic medications several times a day. While the risks of this treatment are great, she has shown huge improvement in muscle strength and respiratory function since beginning the regimen in June of 2009.
In addition to her medications and routine checkups, Brielle also endures:
• Physical Therapy:
- Daily home exercises and stretches focusing on building and maintaining muscle strength.
- Hippotherapy weekly.
- Aquatic therapy weekly.
- School therapy weekly.
• Occupational Therapy – Periodic check-in; focusing on fine motor strength and keeping an eye on her hand tremors.
• Blood is drawn regularly to monitor the medication levels and organ function from the trial medications.
• Travel to Children’s Hospital Boston SMA Clinic and The University of Utah for once-a-year evaluations.
She has already faced many challenges in her short life, but meets each new hurdle with her favorite saying, “I Can and I Will!” Brielle makes friends easily and is very social. She has become a problem-solver in learning how to become independent, i.e. getting dressed, brushing her teeth, getting her own snacks. She loves to read, swim and anything Disney related!