Life with Lowe: Getting the News

Make sure to catch up on my last post!

I had just taken my daughter to pre-school for the morning when I got the call from the geneticist that I had been expecting for over six weeks. This was in December 2012. I pulled over into the parking lot of a shopping center to receive the news. Our son, Noah, was diagnosed with a rare condition called Lowe Syndrome. Deep down I already knew he had LS. This was just official confirmation.

Noah was born with cataracts. That was the first sign something was wrong. My entire pregnancy was really uneventful when it came to any concerns or abnormalities. Everything was going as expected and nothing to worry about. You know that saying, “As long as their healthy…” Well, that saying took on a whole new perspective after Noah was born.

Noah had cataract surgery at two months old. He developed Glaucoma soon after (50% chance due to having cataracts) and had surgery for that at four months. As the rest of the year went by, we noticed the little “big” milestones like the babbling, picking his head up on his own, sitting up on his own, crawling, etc. Those expected milestones came and went and I knew something wasn’t right.

I kept expressing these concerns to Noah’s doctor at the time and nothing seemed to happen. No tests ordered or additional examinations to help ease my mind. I was getting frustrated and impatient for any answers.

I decided to do the research on my own. I typed in “cataracts at birth.” One of the first entries that caught my attention was information on Lowe Syndrome. As I began reading about the symptoms and characteristics of a boy with Lowe Syndrome, I had this sinking feeling in the pit of my stomach that I had found it. Cataracts at birth, low muscle tone, delayed motor development, were just a few that jumped out at me.

I pressed for Noah to be tested for Lowe Syndrome. Initially I got push-back from his doctor and the geneticist that we shouldn’t just to that conclusion but no one was jumping to any conclusion to help figure out why my son was born with cataracts and not meeting any of his first year milestones.

The geneticist took a small piece of muscle from his arm and had it sent off for testing. We had six weeks to wait. The day I received the news was heartbreaking and I was worried for my son and his future challenges. However, we had an answer and with that, we could move forward to help Noah get the best out of life as possible.

Needless to say, due to the lack of help we were getting with his doctors at the time, we switched doctors after finding out Noah’s diagnosis. Honestly, the moment I knew we would never go back to that medical institution was the day we went in to see the geneticist to talk more about Noah having LS. The geneticist looked right at me and said, “Congratulations mama! Great job! You figured out what he had. Maybe we should hire you to work for us.” His condescending response didn’t sit well with me.

All of Noah doctor’s are now at Texas Children’s Hospital and they are amazing with him and his care. Noah has his challenges but today he’s doing really well and he’s a very happy boy, which makes me a very happy mama.

Until next time, take time to enjoy all the little moments in life.

Jenna