Lowe Syndrome

Hello Utah Kids Family.  My name is Molly Barrington and here is some information about Lowe Syndrome.

Lowe Syndrome is a rare genetic disorder that is also called Oculocerebralrenal Syndrome which means that this syndrome mainly affects the eyes, brain and kidneys.  Boys born with this syndrome are born with cataracts, varying degrees of intellectual disability, kidney disease, low muscle tone, and sometimes glaucoma and epilepsy. 

Lowe Syndrome is passed on the sex chromosome and is recessive.  Females carry it and males are affected by it. It is estimated that 1 in 500,000 people are affected by Lowe Syndrome and there are about 300 cases reported in the world right now.  I am a carrier of this syndrome and 2 of my 3 brothers were affected by it.  My son also has this syndrome.

My son Jonny is a happy, cheerful boy of 2.  He was born with cataracts and glaucoma and he had 5 surgeries and 8 other exams under anesthesia on his eyes before he has 6 months old.  He is legally blind without his glasses.  We hope that he will be able to have artificial lenses implanted after he turns 3.  He also spent the first 10 days of his life in the NICU because he had trouble eating and breathing.  

Jonny sees several therapists through the Early Intervention program Kids on the Move.  He rolls and scoots all over the place but we are still working on crawling, walking, and strength building.  He also has trouble with eating.  He has a g-tube to help him get enough to eat and drink.  We are working on eating pureed food.  Jonny takes several medicines to help his kidneys function properly and to help his body maintain proper balances.  He sees 3 different specialists at Primary Children’s Hospital and also has a wonderful Pediatrician.  Modern medicine has greatly improved the quality of life for people with Lowe Syndrome.  I have seen this change with my brothers and now my son.  We have high hopes for Jonny’s future and we look forward learning and growing.

For more information on Lowe Syndrome you can go to lowesyndrome.org or http://ghr.nlm.nih.gov/condition/lowe-syndrome