Our story of living with Alport syndrome began with the watchful eye of a wonderful daycare provider. My son, William, to this time seemed to be a typically developing toddler in 1999.
His caregiver called me to his room in the center very concerned about darkened urine. We immediately went to the doctor and were sent to Cardinal Glennon Children’s hospital for further testing. Dr. Belsha and his nurse were wonderfully caring and full of information to help us understand what was going on with Will. He went through a biopsy procedure, so the tissue of his kidney could be tested. Through the process of elimination, his tissue was sent to the University of Minnesota and after the dye test of the tissue, he was diagnosed with Alport syndrome just before his second birthday.
The year that followed was a waiting game, with several sets of tests, to monitor how he was doing. Will began taking Enalapril when he turned 3 years old. It was explained that, at this point, research was showing that this was working in about 50% of the patients with Alports. So, we are thankful Will was one of those kids it worked on.
There were challenges at this point, because the medicine had to be mixed very specifically and at times it was not. Watching the effect of the medicine when it was not mixed correctly was very hard, but thankfully that did not happen very often.
There were challenges, because it was hard for Will to keep his blood pressure up some of the time, especially when dosages were increased. At three years of age, even with his extensive vocabulary, it was hard for him to verbalize how he felt. He did adapt as changes took place and moved forward.
At age 7, we found out Will needed glasses, but the lenses in his eyes were still healthy.
In 7th grade, Will’s hearing was declining and he was fitted with hearing aids. It continues to get worse, but that has not stopped him. Thankfully Children’s Miracle Network was able to help get the type that would best meet his needs.
Will now sees doctors at Children’s Mercy and they are knowledgeable and wonderful to answer his questions as they can.
Over the years it has become easier, because we have learned what to expect and kind of go with the flow. It is hard when new challenges arise, because the unknown is still scary.
A highlight for our family was attending a Family Conference, where Will met other children with Alport syndrome for the first time. He no longer felt alone with this disease. He made connections he keeps up to this day.
Will is almost 16, and thriving. He sings in his high school choir, he plays the guitar, piano, and hand bells, and has participated in the State Honor choir at the Mid-level. He has been in a couple of plays at school and they are getting ready to perform Honk in a week. He runs cross country and track and is part of the student government at his high school.
We talk often about how everyone has obstacles in life and it is all a matter of how one deals with them. Will is self-motivated and eager to grow up and be someone who makes a difference in the world. I am amazed everyday!
I am thankful for all the work that has been done where research is concerned. I am not sure when or if Will will need a transplant, but the longer we can keep him healthier, the more time researchers will have to find more answers.