joey bear

This is a blog about Josiah, our youngest son, and his journey as he battles GM1 (infantile gangliosidosis).

A baby with Infantile GM1 gangliosidosis usually appears normal until onset (usually by 6 months of age), but developmental regression eventually occurs.  Signs and symptoms may include neurodegeneration, seizures, liver and spleen enlargement, skeletal irregularities, joint stiffness, distended abdomen, muscle weakness and an exaggerated startle response.

Babies affected by the infantile form of GM1 gangliosidosis are frequently diagnosed by the cherry-red spot on the retina of the eye.  Often at about 10-14 months of age, children may start to exhibit trouble tracking and/or focusing with their eyes, so parents schedule an appointment for an eye exam.  The cherry-red spot is quickly seen and an initial diagnosis of Tay-Sachs or similar devastating disease is made.

There is currently no cure or treatment for GM1, only symptomatic treatment for neurological signs and symptoms.

As we walk through what I could only describe as the most difficult time of our lives, as the calendar fills up with various doctor and specialist appointments, as we battle the fear of an uncertain future, and as we watch this brutal disease rob our son of the ability to talk, walk, sit-up, eat and breathe, we choose to celebrate every moment of every day of his life… every smile, every giggle, every snuggle. We trust that God is in control, that he loves us and our little boy. We may not understand why, but we know He is good and gracious, that He is close to the brokenhearted and saves those who are crushed in spirit.