Fighting SMA with Presley Mae

The O'Doherty's Life with SMA

Friday, May 5, 2017 our lives changed forever. Presley (born February 3, 2017) was officially diagnosed with a rare, recessive, and incredibly scary genetic disease, Spinal Muscular Atrophy. 

What is Spinal Muscular Atrophy (SMA)?
Spinal muscular atrophy (SMA) is characterized by loss of motor neurons in the spinal cord and lower brain stem, resulting in severe and progressive muscular atrophy and weakness. 

Ultimately, individuals with the most severe type of SMA gradually become paralyzed and have difficulty performing the basic functions of life, like breathing and swallowing.

Due to a loss of, or defect in, the SMN1 gene, people with SMA do not  produce enough survival motor neuron (SMN) protein, which is critical for the maintenance of motor neurons. The severity of SMA correlates with the amount of SMN protein. People with Type 1 SMA, the most severe life-threatening form, produce very little SMN protein and do not achieve the ability to sit without support or live beyond two years without respiratory support. 

SMA affects approximately 1 in 11,000 babies, and about 1 in every 50 Americans is a genetic carrier. SMA can affect any race or gender. It is (hopefully now a was due to treatment available) the number one genetic cause of death for infants.

Wednesday, May 17, 2017 Presley received her first dose of the only approved medication for this disease, Spinraza. This drug was described to us as a game changer, a disease modifier, a reason for hope and a life for Presley beyond the age of 2. 

We clung to the hope the drug provided and we went to work finding the best team of doctors and therapists to help Presley in any and every way possible. This currently includes the following:

Pediatrician (Omaha): Dr. Michael Wilzcewski
Neurologist (Kansas City): Dr. Ann Modrcin
Pulmonologist (Kansas City): Dr. Jane Taylor
Orthopedic Surgeon (Kansas City): Dr. Richard Schwend
Neurologist (Omaha): Dr. Geetanjali Rathore
Pulmonologist (Omaha): Dr. Casey Burg
Physical Therapist (Omaha): Vicky McHugh
Occupational/Feeding Therapist (Omaha): Lacie Riley
Speech Therapist (Omaha): Jessica Mannon
Pediatric Chiropractor (Omaha): Dr. Andrea Eiler

Presley sees all of the above at different intervals—some every 6 months, some every 4, some every week, and some multiple times per week. We are doing OT, PT, chiropractic work, vibration plate therapy, aquatic therapy, and speech therapy.

Presley has done an MRI, bone scan, retinal scan, sleep study, swallow study, multiple x-rays, several blood draws, and numerous other medical appointments which will continue indefinitely.

We currently have to feed her in side lying position and use a thickener to keep her from aspirating her fluids. She has a brace she has to wear whenever upright to help combat significant kyphosis and scoliosis issues and offer additional trunk support, we have a suction machine to help clear secretions, a cough assist to help keep her little lungs clear, a pulse oximeter to monitor her oxygen saturations and heart rate to make sure she is breathing well enough on her own. All of these issues are the result of the disease. Everything that requires the use of muscle in any way shape or form is affected. 

Presley has been through a lot in her first year on earth, and she will continue to go through a lot for years to come. But she is a fighter, every day she fights. And we will continue to fight and advocate for her and everything that she needs. 

We are unbelievably grateful that we caught it early, grateful for the medicine, grateful to her team of doctors and therapists, and grateful to our family and friends who offer help and support in so many ways. It takes a village and we are lucky that ours includes all of you! 

Thank you to each one of your for your continued love and support. 

Love, 
Bill, Lacy and Presley