Hi!

​

We are the Skinkis family. Our family consists of myself, my husband, John, and our three wonderful boys, James (5), William (4), Gregory (2), and Andrew.  As a family, we enjoy spending lots of time outside. Camping, walking to our local park, and playing sports are just a few of our favorite pastimes. In addition to spending time as a family, John and I both enjoy giving back to our small community; we are involved with our Fire/Rescue Department and Big Brothers Big Sisters.

​

On March 4 2021, our lives changed forever. We received a phone call from William’s pediatrician stating that William, only five days old, had been diagnosed through newborn screening with Spinal Muscular Atrophy Type 1. While the news was overwhelming, it was also comforting as we now had answers to his lack of movement in utero, weak cry and birth, low muscle tone, and inability to regulate body temperature.  Spinal Muscular Atrophy (SMA) is a progressive neurodegenerative disease that affects the motor nerve cells in the spinal cord and impacts the muscles used for activities such as breathing, eating, crawling, and walking. SMA impacts every child differently; for William, he was born symptomatic, which meant we were behind the game already. Over the next few weeks, we worked closely with our insurance company and Children’s Hospital of Wisconsin to obtain Zolgensma, a $2 million gene therapy drug, at 24 days of life.

​

A year later, William was still delayed in all areas of development. Most kids his age were crawling, climbing, clapping, working on foods, responding to peekaboo, yelling, pulling hair, and giving giant wet slobbery kisses, but not William. His days were mostly spent lying on his back and just looking around. In January 2022, we entered the Respond Trial through Lurie Children’s Hospital in Chicago. This allowed William to receive Spinraza,  a secondary medication administered through a spinal injection every four months. For William, the trial was successful; he started using a walker, navigated a manual wheelchair, increased his vocal strength, and gained independence by becoming potty trained and feeding himself. William continues to receive Spinraza every four months through our local hospital.

​

There is no doubt the medication has been helpful for William. However, an equally important part of his treatment has been physical therapy. William completes traditional weekly physical and occupational therapy. Due to William’s lack of muscle tone and gross motor skills, we have found that intensive physical therapy is the most successful form of therapy for William. Intensives are different from traditional therapy as the therapist works with their client for several hours a day for an extended period of time. There are many different types and programs; for us, we have found Neurowerks in Bonita Springs, Florida, has been the most beneficial for William, as they specialize in neuromuscular therapy. William has completed three four-week, three-hour-a-day intensives with Neurowerks. During these intensives, he has gained muscle, works on being able to independently walk, and most importantly, learns correct posture to minimize his scoliosis.

​

Unfortunately, Neurowerks does not take insurance. These intensives are $10,000; in addition, the cost of rental housing is about $5,000. We have paid for it out of pocket and with the help of local nonprofits.  All donations are appreciated as they help continue to make this important therapy possible. If you are interested in helping offset the cost, please click the donation tab for more information.