Gavin’s story

A cold, autumn night on November 13, 2005 marked the day of new beginnings for Jan and Ferd as they welcomed their first born son, Gavin Cole, into this world. The moment was precious and sacred. He was truly an angel sent from heaven. Gavin was always a happy-go-lucky baby who was very easy to please. Books by Eric Carle, Elmo, Barney and lots of push toys, to name a few, were some of the things he absolutely loved. As Gavin grew, he never quite followed the typical milestones of an average baby. He started to walk at 16 months of age, but was always floppy and had low muscle tone. He did not really have a big appetite and was usually a very mellow and laid back child. Jan and Ferd were always told, “Don’t worry, everyone develops differently,” “This is quite normal,” or the most repeated of all, “Boys are always delayed, especially when it comes to speech.”

As new parents, they could not help but worry. Gavin did almost everything: playing, walking, biking, signing, pointing and playing toddler basketball. Still, he never spoke a word. His constant babbling, however, was purely entertaining. After countless evaluations and therapy, they were told many different possible diagnoses. At first it was the possibility of autism, and then there was ataxia, cerebral palsy, and finally there was the possibility of mental retardation. The doctors could never give them an exact diagnosis, but simply stated, “He is a very delayed child.” Soon their lives were about to change as they braced themselves for every parent’s worst nightmare, and indeed, that nightmare came true.

It all started shortly after the birth of their daughter, Audrey Bella, on November 28, 2008, when they noticed the major signs of Gavin’s regression. He had just turned 3. During the summer of 2008, Jan and Ferd could clearly remember Gavin still being able to do things that he could no longer do. He was able to walk with no help, get off from his bed, and also shoot a few hoops of basketball. Gavin was also able to go up and down the stairs with help, turn on and off all the light switches around their house, point to his body parts, and turn on the bath tub sink (boy, did he love that!). Then around late October and early November of 2008, they started to notice Gavin was always falling down when walking. If he fell down, he was not able to get up on his own. He was fearful of stairs, especially coming down. The worst part was when he had difficulty eating. Gavin was able to eat the typical toddler foods, but soon after turning 3 years old, it took longer to eat and coughing was soon associated with his eating. It turned out that he was not able to swallow his food properly. A swallow study was done for Gavin in January of 2009 as doctors examined his eating activity through an X-ray. The results showed that Gavin was prone to aspiration when eating. This was serious, as his food and liquid potentially could go into his lungs making him vulnerable to pneumonia.

February of 2009 was a crucial month for Jan and Ferd. They scheduled all sorts of doctor appointments to find out exactly what was wrong with Gavin because, from the very beginning, they knew something was not right. On February 9, 2009, they saw Dr. K, a pediatric neurologist. Because of Jan and Ferd’s report of Gavin’s regression, he wanted to test Gavin for a degenerative brain disorder-a condition that was nowhere near their thoughts, experiences or vocabulary. Regression is a red flag for most neurological disorders. They never saw that coming, but the worst of all was when they were told that most degenerative brain disorders are fatal. Dr. K ordered a test for lysosomal storage diseases that same day, and Gavin’s blood was to be sent to Philadelphia to Dr. W’s lab. Dr. W is one of the few doctors who tests for such neurodegenerative diseases.

Jan and Ferd were in complete despair. They did not know how to feel or react, but ultimately all they felt was such unbearable pain and confusion. They asked themselves, “How did this happen?” and “Why Gavin?” They decided to get a second opinion and see another pediatric neurologist. A few days later, they drove to Los Angeles to see Dr. M. He offered them some hope and was very friendly and easy to talk to. He said that Gavin’s long chain fatty acids test came back negative which was a good sign. His MRI also looked fine. It really was just a matter of waiting for the results from Dr. W. Jan and Ferd wished that Dr. M practiced in San Diego, but if it meant for them to drive to LA often, it did not matter as they were willing to do anything for their son.

It took several weeks until they would get the results. The anxiety and anticipation were killing them. But on March 2, 2009, the results came back early. This date marked the day that was going to change their lives forever. Jan received a phone call that day from Dr. K and truly it was the most devastating phone call of her life. Dr. K was very blunt about it. He said with a very desensitized voice, “Unfortunately, your son Gavin is diagnosed with Tay-Sachs disease; it is a very rare and fatal disease and I am very sorry, Mrs. Marquez.” Jan’s heart dropped down to the ground. She started to cry hysterically. She called Ferd to come into the house, as he was leaving for work that morning, and as he entered the house, he fell on his knees crying painfully. Everything they read about Tay-Sachs on the internet was so depressing. It is a very rare genetic disease and the worst part is that there is no known definitive cure. “But how could that be?” Jan questioned daily, as statistically, most individuals affected by this disease were of Jewish, French Canadian or Cajun descent.

It just did not make sense to them, as Gavin did not fit the typical profile. Dr. K even admitted that he did not know much about the disease because it is so rare. He said, “Tay-Sachs is so rare that a doctor can practice medicine their entire career and never run into a patient diagnosed with Tay-Sachs.” He was not sure if Gavin had the infantile, juvenile or adult form of Tay-Sachs disease. The whole month of March was all too devastating. Excruciating pain, agony, sorrow, tears, heart dropping, heart wrenching, depression, exhaustion—you name it, and they lived it.

On April 1, 2009, Dr. N, a pediatric geneticist, discussed their DNA genetic test results and he said that it confirmed that Gavin has Juvenile Tay-Sachs disease. The odd thing is that “Novel Variants” were found between Jan and Ferd, which means they are bad or mutated genes, but not the known genes to cause Tay-Sachs. The genetic report, therefore, cannot be confirmed 100% that Gavin has the disease. Jan and Ferd are holding onto that 1% of hope.

As desperate parents they are, they resorted to other alternatives as they are destined to find “the cure” to save their son. They resorted to alternative medicine and saw two alternative medicine doctors in San Diego, who were doubtful of Gavin’s diagnosis. Jan and Ferd also brought Gavin to Ensenada, Mexico to see a spiritual holistic doctor who also believed that Gavin could be saved. Jan and Ferd would also bring Gavin to see a faith healer known as “Auntie Apo” on a weekly basis in the southern part of San Diego. Up until this day, Gavin still visits Auntie Apo who has helped him in many ways through massage therapy and prayers. She has always offered them a lot of hope as she believes Gavin will be cured.

As much as possible, Jan and Ferd avoided the medical community, as all they were told were bad news. They decided to take Gavin on a miracle mission trip to the Philippines and Guam during the summer of 2009. There, they paid pilgrimage to several miraculous healing places and churches. They also saw several doctors in the Philippines for another opinion; they were very interested in Gavin’s case as there are no known documented cases of Tay-Sachs disease in the Philippines. The doctors then sent Gavin’s blood to Australia to be tested, as there are no lysosomal storage diseases testing available in the Philippines. A few weeks later, unfortunately, the results came back positive and confirmed that Gavin has Juvenile Tay-Sachs disease. His Hex-A enzyme levels are extremely low and this enzyme is what Gavin desperately needs. The blood brain barrier continues to be the biggest challenge for Gavin and all children suffering from Tay-Sachs disease.

It has been a painful, agonizing and unbearable journey for Jan and Ferd, but they pledge not to give up hope. Their 10 month old daughter, Audrey Bella, continues to remind them to never stop smelling the roses. They have also been recently blessed with the news that she does not have the disease, but is a carrier of Tay-Sachs. Currently, Gavin is the only known case of Tay-Sachs disease in San Diego, California and may be the first documented Filipino child afflicted with this devastating disease.

Gene therapy may help find an answer to it all, but unfortunately gene therapy will not be available in the U.S. until 2012 and Gavin does not have that kind of time. For Gavin, time is brain cells. Gavin can no longer walk unassisted and can no longer eat solid foods. His gross and fine motor skills have weakened dramatically. The pain of seeing Gavin deteriorate in front of their eyes and leaving Jan and Ferd helpless is the biggest punishment of all. But this is the beginning of the journey for Jan and Ferd. Despite the fact that they are constantly told to brace themselves, for the worst is yet to come, they strongly believe that the road to a cure is closer than they think. God is the only doctor for Gavin and will lead Gavin’s parents to the answer. Please join Jan and Ferd in their journey to save their son, to embrace hope, and to ultimately find the cure to Tay-Sachs disease.