Sophia Grace - Apple Pick of the Month
Our Sophia Grace was born in August of 2012 and appeared to be perfectly healthy. After two days of poor feeding she was admitted to the NICU to be fed by an NG tube. Sophia was transferred to Dell Children’s Hospital after she became lethargic one day, but she was fine by the time she reached the hospital, and after all tests came back negative she was discharged.
At three months old, Sophia was not meeting any of her milestones and was referred to a neurologist by her pediatrician. The neurologist diagnosed Sophia with severe hypotonia, or low muscle tone. An MRI ruled out anything neurological causing her low muscle tone, and genetic testing was done to determine the cause and diagnosis of Sophia’s severe hypotonia. As we waited for the genetic testing results to come back Sophia began occupational and speech therapy through ECI. At six months old Sophia came down with a respiratory virus but recovered with antibiotics. After two more rounds of a respiratory virus, Sophia was transferred to Dell Children’s because of low oxygen. She was diagnosed with bronchitis and we were told she would be in the hospital for approximately three days. A swallow study confirmed that Sophia’s reoccurring respiratory issues were due to silent aspiration and she had an NG tube placed to safely feed her.
While waiting to be discharged on the third day, Sophia began to act fussy and at my insistence that something was wrong, she was not discharged but was seen by the pulmonologist who had just come on for the week. A sleep study concluded Sophia was shallow breathing because of her low muscle tone and she was placed on a BiPAP machine at night. Sophia’s doctors believed that the safest option for her to eat at home was by G-tube until we could determine her diagnosis and treatment. After almost a month of being in the hospital Sophia underwent the G-tube surgery. Because of her low muscle tone Sophia could never recover her strength to breathe on her own, and after several attempts to avoid it, it was determined that the only option left for her was to have a trach placed so she could come home on a ventilator.
After exactly three months of being in the hospital, our Sophia Grace came home on a ventilator and several life saving machines. She now required 24-hour nursing care. While in the hospital, the genetic testing came back showing Sophia has a type of Nemaline Myopathy called Actin Myopathy. Her ACTA1 gene is duplicated. This is a skeletal muscle disease that is not progressive and not neurological. There is no treatment and it is very rare. Sophia’s is on the severe end, and she is completely immobile.
After adjusting to having nurses, case managers, DME reps, and a slew of therapists in and out of our home every day, we are so grateful for the joy that our Sophia Grace brings us every day. She is thriving and has had very few hospital stays or illnesses. She is on homebound education through the school district due to her severe medical needs and to avoid germs. Sophia amazes her teachers by how quickly she learns and how smart she is. Although she is nonverbal, Sophia is very cognitively aware and is able to communicate using her tongue and through her eye gaze computer. She loves Halloween, dressing up, firefighters, and birthdays. With a small amount of movement she has in her fingers, she can use her iPad with help. We made a promise before bringing Sophia home that she would get to enjoy life as much as possible and not be stuck in bed. Since bringing her home we have taken Sophia to the zoo, the beach, camping, and many other places. She is in the process of learning how to use a power wheelchair.
As a special needs family, there are definitely many challenges we have faced. The biggest challenge has been the lack of nursing care or quality of care by nurses. Without adequate nursing care, we face lack of sleep, lack of time alone for my husband and I, financial hardship as only one of us can work, and not being able to meet the needs of our older daughter. Having a DME company like Apple HMS that has gone above and beyond to help us has been a huge blessing and leaves one less thing to worry about. I know that at any time if we need anything they are just a phone call away.
Although the challenges are great and the fight never ends for what Sophia needs and deserves, we do not regret one second of it. Sophia’s life matters just as all children like her matter. For those who might just be getting the diagnosis: although it will be challenging and many days you may wonder if you can keep going, know that there will be so many more days that are filled with an indescribable joy as you celebrate the little milestones, the little things that only another special needs parent can understand.