Joshua’s Story
The day of August 3, 1995 had finally
come. Along came our first child - Joshua - 8 lbs, 6 oz’s, 21
inches long. The pregnancy was somewhat troublesome at first but
just fine after the 4th month. Josh was born via c-section and
after 5 minutes of admiring our beautiful new child, everything went
wrong. First, Josh had an extra toe. Then, Josh was experiencing
rapid breathing and was placed in the NICU for a few days of
observation. The doctor assured us that this was normal with
cesarean babies so we did not panic. We spent as much time as
possible with Josh but something else seemed wrong. It seemed like
Josh was in pain. After 2 days, it was discovered that Josh had a
serious problem with his colon and was sent immediately to
Children’s Hospital of Philadelphia. He was diagnosed with
Hirschsprung’s Disease and needed a colostomy. This problem had
Josh in Children’s Hospital quite a bit the first three months. This
gave the genetics department and Neurology time to find something
else wrong, because Josh’s body movements seemed a bit abnormal. At
10 weeks, we were given the diagnosis of
Joubert Syndrome. We weren’t sure what this was and honestly,
neither did anybody else. Joubert Syndrome is a rare disease that
affects the Cerebellum area of the brain, a small section called the
Vermis to be exact. The Vermis has a lot to do with motor skills,
balance, coordination and speech. Joshua was born without the
Vermis.
At 5 months old, Josh started an Early Intervention Program (IEP)
at Bancroft School where he had physical, occupational and group
therapy. During this time, Josh’s colostomy was reversed in hope
that he could function without it. Still the Hirschsprung’s Disease
was giving us a lot of trouble and many sleepless nights. Josh spent
many more nights in Children’s Hospital, including 10 surgeries and,
at one point (8 months old) he was hours from dying because of
another infection that filled him with fluid. Just as the surgeon
was telling us to make burial plans, the infection miraculously went
away that night and Josh has been infection free since. We have
never been so scared and upset, seeing our boy lying there
helplessly. Because of this, Josh continues to have the colostomy
which we hope someday can be reversed.
At three years old, Josh started attending
LARC School in Bellmawr, a special school that he attends for a
full day. He gets speech, physical and occupational therapy several
times a week and most of all enjoys the interaction with the other
children. He loves the bus ride to and from school. Josh’s only
means of getting around is a wheelchair. When Josh is not in his
chair, he uses his strong legs to push himself on this back. He
propels himself around on the floor by pushing off with his feet as
if he is doing the backstroke. At 10 years old, Joshua still cannot
crawl, stand or sit up by himself. He has no speech ability and
cannot eat solid foods. All food must be pureed and spoon-fed to
him, however his primary diet includes 6-8 cans of Pediasure a day.
Pediasure is an expensive supplement that ensures proper nutrition.
Joshua is still in diapers and will probably be for quite a long
time. We do notice that Josh is making progress and cherish every
new thing he does. Josh waves bye-bye, shakes his head no or yes,
slaps you five with his hand and snaps his fingers. He makes sounds,
but cannot form words; however Josh loves to say Mama constantly. At
school, they place Josh into a sitting position and at times he will
hold himself steady for 20-30 minutes. It’s a start!
Josh is beginning to gain better control of his arms and hands,
which allows him to use his pointer finger to work a computer and
point to what he wants. Working on a computer is a big part of
communication for many special children. Josh uses a
Dynavox computer to communicate (he is still in the learning
process). The Dynavox consists of pictures and words in which Josh
pushes to explain what he wants to say. It can be programmed for
special events allowing Josh to always be involved. At home he
plays games on the family computer thanks to a special touch screen.
LARC School recommends programs that Josh can do at home so he is
constantly challenged. After dinner, he gets a little TV and movie
time and then off to bed. Josh loves movies like Monster’s Inc and
Sharktales as well as Spongebob & Dora . Josh is also a great
sleeper and never cries at night.
Beginning in the spring of 2001, Josh started Hippotherapy on
Sunday mornings.
Hippotherapy is basically horseback riding, but with a
therapeutic touch. He attends the Carousel Riding Center in
Moorestown. Horseback therapy allows for the strengthening of the
trunk and pelvic area without the pressure of using the legs. Not
only is this good therapy, but also Josh enjoys it very much. It
gives children a sense of power and accomplishment. Even though this
is costly and something insurance will not cover, we will always
strive to make sure that Josh has this important event in his life.
To see him sit up, hold on to the horse’s reign and have that big
smile is a great thrill for us too. Josh is now up to a little
trotting at the end of each session. We feel so happy for him and
are very proud.
Joshua is currently 52 inches tall and weighs 54 lbs. Weight
gain (or lack of) has been a tremendous problem. He had Esophageal
Reflux and took quite a bit of medication to control it. The
medication no longer worked so Joshua had to have yet another
surgery August 29, 2000, this one to get rid of the reflux for
good. The valve to his stomach that controls acid reflux had to be
repositioned around his Esophagus. This prevents the acid from
burning his throat and allows him to be comfortable when swallowing.
He also received the semi-permanent feeding tube in his stomach for
feeding. Josh would eat by mouth more often before the reflux got
serious. It is essential that Joshua gain weight to improve his
prognosis. This may now be our greatest fear. Eye problems and
kidney problems are two other major side effects associated with
Joubert Syndrome. Once a year Joshua sees the ophthalmologist and so
far we have had no eye problems. Kidney tests performed in the
spring of 2003 showed no problems. Josh did, however, have his
tonsils removed in December 2002. This too was performed in
Children’s Hospital and Josh had to stay overnight for precaution.
During the two weeks of recovery, Josh did not cry or complain once.
He is a very strong boy. No more surgery!
Personality wise, Josh loves interacting
with people. He is always happy and smiling although we
occasionally experience that uncontrollable temper tantrum.
He loves to watch cartoons, play on the computer and enjoys having
books read to him. He looks forward to the bus ride to school each
day. Recently Josh developed a passion for football (that’s our
boy!).
On October 30, 1999 we added another boy to our happy family.
Ryan Jerome was born 5 weeks premature. Ryan is a healthy little boy
who is progressing normally but a little slower than average. An MRI
at three months old indicated that there are “characteristics” of
Joubert Syndrome. At six years old, Ryan is making great progress.
He feeds himself & can do almost everything a healthy 6 year old
does. He is very affectionate and loves kissing and hugging
everyone. His hobbies include playing with race cars & trucks,
drawling and watching the food channel (just happened by accident).
He insists on helping mom in the kitchen. Just recently, Ryan was
found to be missing his IGA, which is a part of the bloodstream that
helps fight infection & illness. We are still learning more about
this, but know we have to be more cautious now every time Ryan
becomes ill. According to doctors, this could be serious.
Ryan attended an advanced pre-school program at
LARC SCHOOL where he
received occupational, physical and speech therapy. To communicate,
Ryan is used a system called PECS, which is a Velcro board with many
pictures. He would pull the picture he wants and place the picture
on a separate hand-held panel and then hand it to whomever he is
asking.
This past September 2005, Ryan started
attending Signal Hill kindergarten in the Voorhees School system. He
is in a special class but is mainstreamed into regular kindergarten
at least one hour per day for now. Ryan can say and write the entire
alphabet and can count up to twenty. He also excels on a computer
while using a mouse. Ryan loves to play with other children. Looking
at him, one could not tell anything is wrong. He is developing the
attitude of a 6 year old as well but we are just thrilled he has
come so far.
Having Ryan was a tough decision since we had a 1 in 4 chance of
another Joubert’s child. There is no pre-natal test that can
determine if Joubert Syndrome will affect the child. Although he is
affected, it was one of the best decisions we could have made. Ryan
and Josh get along great and love to play together. Josh seems to
watch every move his little brother makes which in the future may be
a great help to us when teaching Josh. Plus we don’t want to spoil
Josh too much as an only child. We will not take this chance again.
At the moment we are in the process of adoption. Over the past two
years we tried invitro-fertilization (IVF), but lost two
pregnancies. At times we feel as if something is still missing in
our life because as parents, we want to experience all the joys that
come with having a child without special needs.
We have learned to really appreciate the gifts our special
children bring to our family. Although not the same as other
children, they know how to brighten the lives of everyone they meet.
It is rare for both our kids not to have a big smile on their face.
In 1996, we found the Joubert- Syndrome Parents in Touch Network
(later renamed the Joubert Syndrome Foundation). This was
originally a group of three mothers of Joubert Syndrome children who
noticed there was no support group and decided to form their own.
Today it has grown to over 250 families throughout the world. We
have been fortunate to meet many wonderful people through this
Foundation, including other beautiful children with Joubert
Syndrome. There are those who shy away from Josh because of his
condition. It shows us who our real friends are and points out the
people in this world who are insensitive and unaware of what joy
special children can bring.
We hope to share our experiences and knowledge with new parents
of Joubert Syndrome children. The one thing we have learned is that
nothing compares to talking with families who know exactly
what you are going through. At times, talking is the best form of
therapy. If you have a new child with Joubert Syndrome (or any other
disability) and have questions, please feel free to contact one of
us. We will try our best to help you.
Thank you for visiting our website, your support and sharing with us
the story of our children.
David and Susan Goldstein
We
would love to hear from you,
Click
here to send an E-mail to Joshua
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Click
here to send an E-mail to Susan
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Joshua's Story last Update: February 16, 2006
