Jacob Christopher Goodson and
Our Family’s Quest to Find a Cure for SMA

 Written by: Mommy

          When my husband Todd and I were married in 2001, we were eager to start a family.  After a year of trying with no results, we were informed that we could not conceive children naturally.  Despite this setback, we decided to pursue our dreams of having a family and delved into researching the world of infertility.  After much deliberation, we decided to undergo invitro-fertilization with ICSI (intracytoplasmic sperm injection).  In January 2001 we were blessed with a beautiful baby girl, Caitlin Scarlett.

          Scarlett brought so much joy to our lives that we decided we would try again in January 2005; however, we did not meet with success until October 2005.  This time we were doubly blessed with twins, Melanie Faith and Jacob Christopher.  The twins were born at 35 weeks, but were both healthy and at home within five days.  Aside from their very brief treatment for jaundice, we were the perfect, healthy family of five and ready to embark on our new adventure together.

          In August we went on our first family vacation to the beach with my parents and grandmother.  GranGran loved holding the babies and spent almost everyday rocking them on the back porch.  Sometime during the week she mentioned that she felt more tension in Mellie’s back than in Jacob’s, but we figured boys usually developed slower than girls and simply put the thought in the back of our minds.

          At their two-month appointment, I mentioned to Dr. Clegg, our pediatrician, that Mellie was now lifting her head and trying to roll a bit, while Jacob was less mobile.  I even went as far as to compare them to bugs; Mellie was the June bug spinning around and trying to turn herself over, while Jacob was the poor worm who crawled out onto the pavement on a hot day and seemed stuck.  Dr. Clegg sent us to a neurologist to have Jacob evaluated and to make sure his immobility was simply a developmental delay.

          In September we received the news that changed our lives forever.  The children and I had just returned from a visit to the pottery store where we had made a memory plate with the twins’ footprints and birthday information for Daddy.  I answered the phone, expecting the voice on the other end to tell me that the most recent tests were just like the first - negative.  Instead, Dr. Nelson calmly told me Jacob had Spinal Muscular Atrophy (SMA) and that I could find the most recent and detailed information on the Internet.  I hung up and went to my computer.  Within five minutes, I learned that SMA is the #1 genetic killer of children; that my child was not expected to see his second birthday; that he would never sit, talk, or walk; and that there was no cure and really no hope.

          I cried, and cried, and cried…how could God do this to our family.  After having to work so hard to have children, he was going to take one away?  I called my parents and my minister.  I finally called my husband and told him not to look it up on the Internet; I told him that we would go talk to Dr. Nelson the next day and learn more then.  Five minutes later he called me back in tears…he had looked.

          We went to Dr. Nelson’s office the next day hoping that he would not tell us that Jacob had type one and praying that he would have a miracle that we hadn’t found on the internet; that he might know of someone who could help us.  We left the office with this advice, “You son has Spinal Muscular Atrophy, more than likely type I.  He probably will not live to see his second birthday.  He will have trouble eating and breathing and you might want to get a gastroenterologist and a pulmonalogist.  You need to take him home and love him as long as you have him.”

          I sat at home and cried for two more days.  On the third day Martha Kearse, the Minister of Children at our church, came to our house.  Martha, like me, was a former English teacher, so together we composed a letter to anyone and everyone we could find on the Internet who knew anything about SMA.  We sent out over a dozen emails by noon.  While we waited for a response, I took Scarlett to see the movie Cars and left the twins with Todd and his parents.  When I pulled into the driveway two hours later, my husband ran out with the phone in hand telling me Dr. Wang from Stanford Medical Center was on the phone and thought Jacob might fit his study.  Within the span of three hours, we were given the gift of hope and a new outlook on such a horrible disease.

          We soon left for California to meet with Dr. Wang and to enroll Jacob in his clinical study.  Dr. Wang believes that using hydroxyurea will help Jacob’s genes make the protein that SMA children need to keep their muscles healthy.  We have been traveling to California monthly since October and are currently in the double-blind stage of the study.  At this point in the study we do not know if Jacob is getting the actual drug or a placebo.  In May 2007, Jacob will begin the open-label portion of the study in which all patients receive the drug.  We are hoping to see some signs of the drug at work this summer.  There is hope; within this study Dr. Wang has patients who now sit, eat, and talk, all of which we were told Jacob would never do.

          These past six months have been extremely difficult.  As soon as I was told there was no hope, I started fighting for Jacob.  I armed myself with as much knowledge as I could about this disease and about my son’s treatment.  I have worked with doctors both in Charlotte and California, New Jersey, and Wisconsin, to make sure Jacob receives the best treatment available and that proper protocols are followed.  I continue to fight with the insurance company and the bureaucracy that is keeping us from receiving Medicaid and home healthcare services that a child like Jacob needs.  Jacob, like many children with neuromuscular diseases, has weak lung muscles and has been hospitalized twice this winter for pneumonia and RSV (Respiratory Syncytial Virus).  We have spent over 8 weeks in the hospital away from my husband and daughters in order to make sure that Jacob has the 24-hour care he requires during a sickness.  Together, our family will do whatever is required of us to help find a cure for this disease and help our precious baby boy persevere.