While I was pregnant, one of the test results led doctors to believe that our Natali had spina bifida. Six weeks later, we were sent to our local children’s hospital for extensive testing.
After a full day of tests, including an MRI, the doctors told us that Natali’s spine ended early and she had a single kidney. They could definitively say the baby did not have spina bifida. However, the baby did have an even rarer diagnosis of caudal regression syndrome (CRS). They then handed us a piece of paper with a very short paragraph explaining CRS and gave us a couple minutes to digest what we were told.
Then they proceeded to tell us that we still had time to terminate the pregnancy. They advised that it would be a miracle if the baby made it to birth because of the high rate of fetal death in infants with CRS. Additionally, if she did live, they couldn’t tell us what her quality of life would be. They said she would never walk a day in her life and that she would have absolutely no bladder or bowel control, meaning she would have lots of urinary tract infections and possibly even kidney failure in the future. At this point, my husband and I were so shocked that we couldn’t even think. We were left with a lot of uncertainty.
My mom is the one who found the iSACRA website. She gave us every handout she could print from the site and told me to email the organization and get added to the Facebook group. Through this group, we discovered that much of what we learned from the doctors was just not true.
It has now been exactly two years since our daughter’s diagnosis. She not only lived; she thrived, and she has proved every doctor’s prediction to be wrong. She does not currently have a neurogenic bladder and has plenty of control of her bowels. Doctors are now even talking about potty training her for both bladder and bowel. She has a wheelchair, and she has had that since she was a year old so that she can experience being mobile, just like other kids do who learn to walk at this age. She also just received a walker and stander to start learning to walk. This little girl has proven all the doctors wrong so far, and with her very determined attitude, I am pretty sure she will continue to prove them wrong throughout her journey in life.
I do wish all doctors and hospitals and medical had accurate information on hand, instead of handing out the severely outdated, inaccurate information they gave us. I wish I would have known sooner that doctors often give you the worst-case scenario, especially when they are unfamiliar with a condition. Sometimes they tell you only what little they know, perhaps not even realizing that the information is outdated and incorrect. If they had updated information, they would know that the worst-case scenario is not the only possible outcome. Natali is already proving what is really possible for children with caudal regression syndrome, and we are so proud of her.