My story starts when I was young, too young to really remember. My mom says I was still wearing diapers, so I was only a year or two.
She noticed the color of my urine was dark. I went through all kinds of tests.
The doctor was not familiar with Alport syndrome and only gave my mom a brief explanation. He said 70% of people with this problem outgrow it, 30% do not.
My memories are of my mom fighting with me to give urine samples in emergency waiting rooms every time my urine got dark.
After 6th grade (when I had strep throat) I did not get sick often and my symptoms leveled out.
I never thought much of it after that until my son was about 6 years old. His urine always looked normal to me. During a doctor appointment they checked his urine.
Now it was my turn to fight with him to leave urine samples.
For two years I dragged him to the nephrologist office. We saw different ones every time. I was told he had Thin Basement Membrane Disease. They said there was nothing to worry about.
When he was 9 I got a call from the school nurse. He failed his hearing test so I called the doctor. After confirmation that he does have hearing loss, we were both tested and diagnosed with Alport syndrome.
With no family history, I was told I was a spontaneous mutation.
It has been almost six years. We both go to our nephrologists every six months. I pray each time that our labs say our kidney function is stable.
My son has it worse. He has hearing aids and stronger diet issues. Last year we found out he has thinning retinas.
He is strong and does not let Alport syndrome own him.
His kidney function has remained stable. My wish is that with the research that ASF and the doctors do, there will be more options before his kidneys weaken.