Meeting with FSMA President
David, the President of the Northern California Chapter of FSMA, drove from Santa Rosa to visit us at our home. He and his wife, Lisa, had a baby, Matthew, who was diagnosed with SMA1 at age 1 month. Matthew passed in 1998 at age 6 months.
David is so wonderful and gracious. He talked to us for 5 hours and answered every question we asked.
He gave us his basic summary of SMA. He said cells need proteins to work and survive. SMA causes the body to produce less of this special protein than is needed to allow the nerves to communicate with the muscles. The muscles get less signal than is needed, causing them to lose tone. The loss of muscle tone causes a loss of strength and causes SMA babies to be “floppy.”
The timing of SMA manifesting in infants is important because it essentially locks the baby into the level of strength available at the time of manifestation. It is as if the amount of power available to run the body remains fixed while the body continues to grow. Eventually, the available power is not enough to run the machinery.
Children or adults who are older when SMA manifests have already developed enough size and strength to be less affected by SMA. SMA2 kids typically have a later manifestation and longer life expectancy. SMA3 usually manifests in adults and may not affect life expectancy much, if at all.
Scientists are trying to find a way to get the body to produce more of this special protein in SMA patients. Apparently the body needs only 25% of its production capacity of this protein to get by. Hopefully, some day, they will find a cure.
David also gave us some great ideas and helpful hints, like tying balloons to Getty’s arms and legs to reduce the weight load of her limbs. This allows her to play with the balloons under her own power. He also suggested letting her play with cotton balls and scrunchy ribbon.
He recommended lots of water therapy. We noticed yesterday that she is able to move her legs around under her own power when her legs are under water.
He also chronicled his family’s life from Matthew’s birth through his passing and beyond. He was very open and honest about the course of the SMA, the symptoms over time, the quality of life decisions he and his wife had to make, the details of Matthew’s passing, the emotional difficulties involved, and their decision-making process when it came to having more children.
He told us about FSMA. He gave us the contact information of other SMA families who are willing to share with us. He showed us some online resources. He talked about the double grief suffered by grandparents.
In all, we came to appreciate his family and FSMA even more. He is a remarkable man with a remarkable family in a remarkable organization. Thank you dearly.