William Marquardt

William was born on July 7, 2005 tipping the scale at 9 lbs 8 oz. He was a healthy, content baby boy and during the first year of life, continued to grow and develop as any other baby. At 9 months, I noticed William slouching slightly when he sat up. I took him to his pediatrician and was told that nothing appeared abnormal and that William was where he should be for his age. Satisfied, I took him home and for the next three months, watched him go from crawling, to standing, to walking around furniture. We were anxiously waiting for him to take his first step but the first step never came.

At 13 months of age, I noticed that William was falling a lot when trying to pull himself up. A few weeks later, he became very stiff in the knees every time he stood and would not pick up his feet. I grew concerned and thought perhaps he had hurt his leg somehow. I took him back to the pediatrician and was told that he was just lazy and that I should not pick him up as much. I left the office relieved that the doctor wasn’t too concerned but still felt there was something more wrong than William being lazy. By 15 months of age, William had stopped pulling himself up altogether. Also, his posture had become worse and he was slouching over even more than before. On the advice of a friend who was a nurse, rather than taking him to the pediatrician, I phoned the Early Steps program which is a government-run program that offers early intervention services for families with infants and toddlers who have developmental delays. It took 6 weeks before we got an assessment done. During that time, William’s motor skills had worsened. When the occupational, physical and speech therapist assessed him, they placed him at a 6- 9 month level. I was devastated. There was no way my little boy had fallen that far behind in just a couple of months. The therapists wanted him to be enrolled in their program and also recommended that he see a neurologist and a geneticist to rule out any disorder.

A week after our consult with the therapists, we relocated to a new city for my husband’s work. Within the first week of the move, I set up an appointment with a new pediatrician. She was very concerned about William and wanted him to see a neurologist immediately. The neurologist, in turn, sent us to the emergency room to have William admitted for a MRI. Finally my husband and I were getting some answers to our concerns! The MRI showed a malformed vertebra which was causing the bump on William’s back and him to slouch. It also showed a more menacing problem – a delay in the myelin sheath in the brain. (The myelin sheath is the white matter coating our nerves, enabling them to conduct impulses between the brain and other parts of the body). The neurologist could not come up with any concrete answers and recommended us to a geneticist. The geneticist reviewed the MRI, took blood and urine samples, and conducted a complete skeletal survey of William. The geneticist believed we were dealing with a lysosomal storage disease. On January 9, 2007, two days after William turned 18 months old; all of our questions were answered with two words: GM1 Gangliosidosis.

I vividly remember sitting in the geneticist’s office holding my happy, playful little boy on my lap and hearing the harsh reality of what was to come with this disease. My sweet, beautiful William would loose all motor abilities, including swallowing. He would suffer from seizures, go blind, deaf, and ultimately die – probably before the age of 5. At that moment, all of our hopes and dreams for our little boy vanished.

A year and a half later, as I write this, William is 3 years old and still sitting on my lap. He is no longer playful and lost the ability to move his body. At 23 months the seizures started and he suffers from them on a daily basis. He can no longer eat orally and relies on a feeding tube for nutrition. He is most likely blind, although there are still times where he looks at us and I feel he can see. William has endured two hospitalizations in the last couple of months due to pneumonia. At one point, we did not think he would be coming home with us but he proved that he is a fighter and we are blessed to have him with us and still be able to adorn him with many kisses.

It is heartbreaking to watch the disease progress in our son knowing that all we can do for William is love him and care for him the best we can. Unfortunately, as much as I want to, I cannot change his life’s course. By sharing William’s story, I hope to educate people about these diseases and promote awareness so that research will be done to help find a cure so that one day no other child will have to suffer.

Contact information: Oralea & Rod Marquardt email: oraleam@yahoo.com