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? 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 (at the time) 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.
Presley works with a whole team of people striving to keep her healthy and help her gain strength and mobility. Her current roster includes the following: Neurologist Pulmonologist GI Specialist Geneticist Pediatrician Nutritionist Physical Therapist Occupational Therapist Speech/Feeding Therapist Soft Tissue/Myofascial Massage Pediatric Chiropractor
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 occupational therapy, physical therapy, chiropractic care, vibration plate therapy, aquatic therapy, speech therapy, and VitalSTIM therapy.
Presley turned 2 on Sunday, February 3, 2019. For being so little still, she has had to go through so much. She’s had an MRI, bone scan, retinal scan, CT scan, multiple sleep studies, multiple swallow studies, multiple x-rays, several blood draws, not to mention the lumbar puncture she get every four months to administer her treatment. This is all a part of her regular everyday life and going forward she will have numerous other medical appointments and procedures which will continue indefinitely.
There is also a lot of equipment that comes with this little cutie pie. She has a brace to wear 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, and a ventilator at home to provide respiratory support when needed. We have a medical stroller, a special needs bath chair, a stander, knee immobilizers, arm immobilizers, AFOs, some special needs seat positioners, pediatric wheelchair, oral motor development tools, and numerous other “things” needed to care for her. With SMA everything, every task that requires the use of muscle is affected.
Presley has been through a lot in her first few years 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 for the medicine, for her team of doctors and therapists, and grateful to our family, friends and kind, generous strangers 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.