Meet Jonny - Our May Kid of the Month

Meet Jonathan Barrington, also known as Jonny. He is just shy of a year and a half old and is a happy, active little boy. He is the joy of our life. He loves to play with toys that have lights or music and if they have both he is in heaven. Jonny also loves to look through toys that are translucent and see the light in different colors. He is always exploring toys and objects with his hands, mouth and eyes.

Jonny was born with Lowe Syndrome. Lowe Syndrome is a rare syndrome (about 1 in 500,000 people) that affects the eyes, kidneys and brain. It is a sex linked recessive genetic condition that women carry and males are affected by. Boys are born with cataracts, cloudiness on the lens of their eyes, and often have Glaucoma, an increased pressure inside the eye. Their kidneys do not function properly which makes it hard for them to put on weight and keep the nutrients that they need to grow and have their bodies function properly. These boys also have varying degrees of mental and physical handicaps, anywhere from moderate to profound.

Jonny was born in November of 2013 at the U of U. He spent his first ten days in the NICU because of breathing and eating issues. In his first 6 months of life, he had 5 surgeries and 8 other exams under anesthesia to take care of the glaucoma issues and cataracts on his eyes. He is a trooper and did so well with all of these procedures. He can see well with his glasses now. He can see a little without the glasses but it is not very focused. We hope to have artificial lenses implanted in his eyes about the time he turns 3. We work with a vision specialist from “Kids on the Move”, which is the Early Intervention program in our area, to help him maximize his vision and learning.

Jonny’s growth had fallen off the charts in the fall of last year and he was not taking in enough fluids to be well hydrated either. His kidney doctor recommended that we have a g-tube placed. This would make is so he could get the nutrients and liquid volume he needed. He had the surgery to place the g-tube in October at Primary Children’s Hospital and he did exceptionally well. Since that time, he has put on weight, grown taller and he has a lot more energy.

Jonny has low muscle tone and so we work with a Physical Therapist to help him exercise and gain strength. We are working on sitting up independently and also the skills to help him learn to crawl. Jonny loves to hang out in his bouncy saucer. It is really helping with his leg strength and balance. He also loves to roll around on the ground and explore his world.

He is very social and loves to babble, play and listen to upbeat music of almost any variety. He also enjoys finger play like pat-a-cake and itsy bitsy spider. He has several words in his vocabulary, but his favorite word is Mom.

We treasure every step forward that Jonny makes. He is our sunshine and he spreads joy and love with his smile. This journey that we started when Jonny was born has been hard at times but overall we have had a very positive experience. We have had to adjust our perspective on what we expect but that has allowed us to enjoy our little boy even more. We see the world through different eyes and we try not to take anything for granted. The love and support we have received has been wonderful. We couldn’t imagine life without our Jonny. For more information on Lowe Syndrome you are welcome to visit the Lowe Syndrome Association website at http://www.lowesyndrome.org/

Disorder Spotlight: L1 Syndrome (L1CAM)

We found out when I was 20 weeks gestation with my second child that he had hydrocephalus. After he was born we just treated the conditions it brought with it. When asked what he might have we were told multiple disabilities. We went seven years before we decided to have another child. Before getting pregnant we decided to see a geneticist to see if it might be a genetic disorder. They looked at our family’s background and decided that there was a 4-5% chance that there was a 50% chance that if it was a boy that it would have L1 Syndrome. It was thousands of dollars to do the testing so we decided that if we were to have another child that would have special needs we would be willing to take that risk.
When we went in for the ultra sound at 20 weeks for our third child we found out that he also had hydrocephalus. This is when we decided to have the genetic testing done on our second child. It came back positive for having L1CAM. We were given this paper written about our children’s condition:
http://www.ncbi.nlm.nih.gov/books/NBK1484/
L1 Syndrome is located on the L1CAM gene. It is a deletion or malformation having to do with this gene. These are some clinical characteristics of L1 Syndrome. X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS);
MASA syndrome (mental retardation, aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs); Adducted thumbs are when the thumbs is tucked into the center of the hand.
SPG1 (X-linked complicated hereditary spastic paraplegia type 1) this is like Cerebral Palsy.
X-linked complicated corpus callosum agenesis. This is when the corpus callosum in the brain has not fully formed.
L1 syndrome is inherited in an X-linked manner, which means through the female. Women who are carriers have a 50% chance of transmitting the L1CAM pathogenic variant in each pregnancy. Sons who inherit the L1CAM pathogenic variant will be affected; daughters who inherit the pathogenic variant will be carriers. Affected males do not reproduce. Carrier testing of at-risk female relatives and prenatal testing are possible if the L1CAM pathogenic variant has been identified in an affected family member.
Our boys vary in the severity of their condition. Some have very little head control while others can walk with little assistance. Many of them suffer from seizures. They require wheelchairs, walkers, seating system and bath chairs. Some are potty trained and others are not. There are only a few that can carry on a normal speaking conversation although some are able to use communication systems to have conversations. Several have autistic tendencies and sensory issues. Most of them have at least one shunt to drain the CSF out of their head.
Even though we deal with physical therapy, occupational therapy, speech therapy, and a myriad of other therapies our children are happy, good natured boys most of the time. They never cease to amaze us with the new things they can do or the things they understand.
Some of the Specialists we see are: Physical Therapists, Occupational Therapists, Sight Specialists, Neurologists, Neurosurgeons, GI doctors, Orthopedics, and other specialists as needed. Many of our boys have g-tubes.
L1 Syndrome is so rare that it has been difficult to find others with the condition. Here in Utah we have been fortunate to find four children (two of them being mine) that have this condition, but there are many that have not been able to find someone near that they can communicate with.
We went without answers for so many years. It was hard having children with a condition that we knew so little about. In the last part of 2010 we were finally able to find some others with this same condition. When we would ask doctors about it they would just say it is rare. A closed FB page was started and today we have 170 members. That would be parents of kids with L1 Syndrome. We reach from New Zealand to Finland to the USA to Brazil. We find the most support from each other. Our doctors sometimes ask us for answers about our boys’ condition.
We would rather have people ask questions then avoid us and shun our children.