Our story begins with the birth of our beautiful baby boy, named after his Grandfather and Father, William Louis Luthcke III. Will arrived February 10, 2003. He had some initial breathing problems and had to stay in the Neonatal Intensive Care Unit for nine days. The doctors assured us this was a regular occurrence and that he shouldn't have any long term health problems. He had chronic ear infections and had tubes placed December 9, 2005.
His speech was delayed and it was assumed that this was due to the ear infections affecting his hearing. His speech and language did not seem to be improving, as I thought it would, after the tube placement. My concern for him escalated. He seemed to lag behind. By the time he was three, I was fairly certain he had a learning disability. Finally, in March, 2007, we consulted a Geneticist.
After some family history he left our treatment room and returned with a medical book and turned to a page with Sanfilippo at the top. He quickly closed his text. I asked to see the book. He declined. I then demanded to read it. I understand why he was denying my access. The one paragraph of information was shocking. My child would die? Die! He can't die! He's just a slow learner! I was in shock and my husband was in denial (he called it hope). It then took 3 months for an actual diagnosis but as the Geneticist suspected, it was Sanfilippo type A.
These children are missing a specific enzyme that allows, in essence, garbage to pile up in their system causing degeneration. Death usually occurs between the ages of 12-20 years. Sadly, there is no treatment or cure!
We have to find something, anything to save our child and other children suffering with Sanfilippo. We have since started our foundation and a quest for a Miracle 4 Will.