I’m Angie, mom of Jace, and we live in Rural Hall, NC. This is our story but it will eventually be his.
My dad was the first in his family, that is known, that was diagnosed with AS when both of his kidneys failed. He was 29. He received a kidney from a 12 yr old donor who passed away from a car accident. My aunt has three sons, all of which have AS. All three have had transplants, two are on their second transplant.
When my husband and I were ready to think about having children, I went through a series of urine tests and the doctor said that I checked out fine, but I would never know if I was a carrier of any kidney disease unless we went through DNA testing. We chose not to and to live life and let God take care of things.
We have two children, a daughter, Sarah – 13, and a son, Jace – almost 10. Thus far, my daughter shows no signs of AS, but of course, could be a carrier. We found out Jace had AS when he was 4. We took him to the doctor because we thought he had strep. While in the doctor‘s office, my husband took him to the bathroom and his urine was the color of coke. That was the beginning. He had a kidney biopsy that confirmed AS. He is currently taking Enalapril, a blood pressure medication. He has already lost some of his hearing but not enough to require hearing aids. He is being seen at Brenner Children’s Hospital in Winston-Salem, NC and I couldn’t be more pleased with the pediatric nephrologists, especially Dr. Lin.
Jace is doing great right now. He has no restrictions for food or activities. He is very active in scouts and loves his dirt bike. He is such a blessing and it truly breaks my heart to know that his body is not as perfect as he is. We have not sat down and told him absolutely everything about AS but we openly talk about things in front of him. Right now, he asks very few questions and we answer them as well as we can.
Over the last year, I have become quite attached to the Alport syndrome Foundation and enjoy knowing that support is just an email or phone call away. I continue to think of ways to support the foundation and the good things they are trying to do for AS patients. My friend created personalized jewelry for those with Alports! (alportsyndromefundraiser.webs.com) Proceeds go to ASF. My husband also drag races. He designed a sticker representing ASF, which includes the slogan “Racing for Healthy Kidneys”. This was our way of sharing about AS since it is a rare disease.
I am open to communicating with other AS parents ([email protected]). I feel that having a support system is key for me as a parent.
Many blessings to each family that faces this disease.