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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

Utah Kids Foundation - Kid of the Month - February 2016

Makenzie was born December 22, 2005. We were so excited to have a happy healthy baby girl. But Nothing could prepare us for what was about to come our way. In February 2007 she got RSV which actually saved her life. They took an x-ray of her chest to see how bad the RSV was and that is when we found out she was born with Congenital Coronary Artery Disease and ended up with Cardiomyopathy. After her first open heart surgery at Primary Children's Hospital to correct her artery, we then found out in April that it didn't work and she needed a Heart Transplant. She got life flighted to Denver Colorado to wait for the perfect heart. 26 days later we got the call and she received the most precious gift anyone could ever give us. A second chance for our baby girl. 

It has been a very scary but humbling journey. She is now 10 years old, she is in 4th grade, she loves to read and loves science. She loves to play with her 3 sisters and 2 brother. Her favorite thing to do is bake and cook. We always have baked goods in the house. Her favorite band is 1D and she loves to watch movies with the family. Her favorite season is summer because she gets to play out side and doesn't have to wear a mask everywhere (germs yuck)! 

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