Hello
to our Utah Kids Family! We love reading
about and sharing in your triumphs and your hardships. It’s nice to know we are not on this journey
alone. We have each other.
I
would like to introduce our little family and tell you a bit about our 10 month
old son, Jonathan or Jonny for short, and his diagnosis. I am Molly and my husband Dave and I have
been married 18 years. We did not think
we would be able to have children, but in April of 2013 we found out we had a
little one on the way. We were surprised
and excited and all of those wonderful emotions that you have when you find out
that you are going to be able to have the child you had given up on being able
to have. We also knew that there was a 1
in 4 chance that our baby would have Lowe Syndrome. I had an amniocentesis done when I was 5
months along and we found out that our little boy had Lowe Syndrome.
Lowe
Syndrome is a sex linked recessive genetic condition that women carry and males
are affected by. I am a carrier and I
grew up with 3 brothers, 2 of whom had Lowe Syndrome. Lowe Syndrome is a rare syndrome that affects
the eyes, kidneys and brain. Boys are
born with cataracts, which is a cloudiness on the lens of their eyes, and often
have Glaucoma, which is 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 very severe.
Jonny
is our little miracle baby. He inspires
us daily with his accomplishments and his fun smile. He spreads love and joy wherever he
goes.
He
was born in November of 2013 and 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. We hope to have
artificial lenses implanted in his eyes about the time he turns 3.
Jonny
is delayed physically and has low muscle tone.
We are working on his head control and sitting up right now. We hope that he will be able to sit up on his
own by the time he is a year old. He
likes to roll around, kick and play with his musical mobile. We have not noticed any significant mental
delays at this time. He loves to babble,
play and listen to upbeat music. He also
enjoys finger play like pat-a-cake and itsy bitsy spider.
He
is a Mama’s boy and will call “Mom mom mom” if I get out of his sight or
hearing. He loves to play with Dad as
well and he calls Dad “A” like the a in apple.
He is also starting to say “Hi” when someone says it to him.
We
work with several specialists with “Kids on the Move” which is the Early
Intervention program in our area. They help
us with Jonny’s learning and growth.
We
treasure every step forward that Jonny makes.
Every smile is a treasure and he is our sunshine. 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/.
~~ Molly Barrington
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