Mom Gets “Lowe” Down to Get Son Right Diagnosis and Treatment

April 21, 2014

My son, Noah, was born in July 2011 with cataracts.

That was the first sign something was wrong.

Doctors would speculate what could have caused the cataracts but nothing seemed to solve the puzzle. I didn’t think the doctors were trying hard enough and a year passed by before my husband and I got our answer. Noah was diagnosed with Lowe Syndrome.

Lowe Syndrome is a rare genetic condition that primarily affects the brain, eyes, and kidneys. Other common issues associated with Lowe Syndrome are low muscle tone, rickets, developmental delays, behavioral problems, and seizures. It affects less than five hundred patients in the world and is mainly present in boys, although in exceptionally rare cases, females have been recorded. Life expectancy is reduced due to this rare condition.

It wasn’t doctors who figured it out. It was me. I sat down at the computer and even though I was scared of what I may come across, I knew I needed to figure out why my son was born with cataracts and what that meant. I searched ‘cataracts at birth’ and came across Lowe Syndrome. In retrospect, I should have done it sooner. I relied too much on doctors to figure it out. Researching Lowe Syndrome, Noah fit the characteristics. The cataracts at birth, the same facial features as other boys diagnosed with Lowe. I remember reading about it and the sunken feeling that my sweet precious boy would have kidney problems that might eventually lead to kidney failure at a young age. I was scared but at the same time I wanted to find out what was going on so we could start getting Noah the right care I already knew he was going to need.

No matter what the eventual diagnosis is, one thing I can definitely tell any parent who knows there is something wrong with their child–Find a doctor who will listen, is patient, and will speak to you in an understanding way that is not “doctor speak” or “talks down to you” regarding your worries, which in our case were completely justified. I still look back on the doctors Noah had at the beginning and still feel the sting of disappointment with their the lack of patient care and concern for a true diagnosis.

I say this because two weeks after Noah’s cataract surgeries his ophthalmologist told me he believed without a doubt Noah was blind. Keep in mind my son had only been seeing the world for about two weeks. It typically takes babies about six weeks to start following things and because Noah didn’t follow his light during the check-up, he concluded Noah was blind. Noah is not blind and can see fairly well with his glasses. It felt like that appointment was ‘get the patient in, get him out and move on to the next.’ It was not said with care or concern.

Just “He’s not following my light. I believe he’s completely blind.”

Then we come across the geneticist who gave Noah the test for Lowe Syndrome. He said to me over the phone when the results came back, “Congratulations mama. You figured it out for us. Maybe we should hire you.” How do you respond to that? The confirmation of the diagnosis was hard, yet I already knew deep down it was LS, but to have a doctor be so condensing and rude when telling me my son has a rare condition that could reduce his life expectancy, made it much harder to take in.

The right care after the diagnosis is so important. Do the research and find doctors that know about the condition and understand it. Ask them to help you find a doctor close to you that can help you and your child. I am so thankful every day with the doctors Noah has now. I am very confident with his current doctors because they can tell me what he needs without having to guess. I can ask questions and be certain I’ll get an answer. Having the comfort there with doctors that understand my son’s rare genetic condition means the world to me.

I am doing what I can to spread awareness of the genetic disease. Simply put, more awareness leads to more understanding. If anyone has any questions please feel free to send me an email at [email protected].

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