Greetings....
Hi and welcome to our page. This
page is about two little boys, Dean and Joseph, who are truly special in
more ways than one. Both of these boys are fighters and survivors of a
rare gene disorder known as Alpha-Thalassemia Mental Retardation
Syndrome and this is their story. Enjoy and hopefully you will
come away with a bigger heart and an understanding of what the human spirit
can endure.
Please enjoy your visit and feel
free to sign the guestbook and/or send us an email ~ see the links at the
bottom of the page.
What is Alpha-Thalassemia
Mental Retardation Syndrome?
Before we tell you about Dean and
Joseph we will try to give you a general idea of what Alpha-Thalassemia
Mental Retardation Syndrome is. Alpha-Thalassemia Mental Retardation Syndromeor
ATR-X is a rare gene disorder that is one of several disorders under the
larger group name of Thalassemia. ATR-X is an X-linked condition, which
means that the gene involved lies on the X Chromosome. Males are the only
ones affected by this disorder, since they have only one X Chromosome ~
which is always inherited from the mother. Females can be carriers but
are not affected themselves since they have two X Chromosomes and the normal
chromosome makes up the difference. This disorder is mainly seen in persons
of Southeast Asian, Filipino, and Chinese decent but due to migration it
has shown up in other cultures.
It is an inherited condition. The
genes received from one's parents before birth determines whether a person
will have this or another form of Thalassemia or any other inherited condition.This
condition can not be caught or passed on to another person thru normal
contact, only a female carrier can pass the trait on to their offspring.
In the coming weeks we will be adding
a seperate page with information of different affects this condition hason
a child. Also there will be a page of links that you can go to for moreinformation.
So please stay check back for these additions.!
Dean
Dean was born on March 2, 1989.When
he was born he had to be placed under a heating lamp for 24 hours due to
a rash they thought was caused by stress during labor. He ended up staying
an extra four days beyong the normal time kept after birth due to the fact
they knew something was wrong. When I tried to breast feed him he would
not take to the breast and when he was fed he was throwing up more formula
than he was taking in and keeping. This showed a failure to thrive. When
he was 7-months old he had a surgery called Nissen
Fundoplication, which also included the insertion of a gastrostomy
tube
for feeding. After that he started doing better and gaining weight.The
doctors began to think that he had Cornelia-DeLange
Syndrome versus Otopalatodigital Type II Syndrome and stated that he
had cortical blindness and was hard of hearing. Then medical genetics was
informed because he had saddle shaped nose and flexion conreations of the
pip joint of the middle fingers. At the time the Genetics Doctor was Dr.Natalie
Krassikoff. He has always had problems with constipation. He also had a
heart murmor at birth but that went away with no problems.
Dean is now 11 years old. He cannot
walk, talk, crawl, sit up, or even eat by himself. He is on a feeding machine
20 hours and off four hours a day. He had his colon removed back in 1998
and has an ileostomy
bag. But due to the removal of his colon he doesn't absorb like he
should and had been in the hospital a lot. He also has a wheelchair that
get him around and had braces for his arms and afo's for his legs. He doesn't
communicate alot but does make different noises for his different needs,
he does know that. He loves to be held and his head rubbed. He also likes
water. He will laugh out loud for no apparent reason, he has always been
a good naturedchild.
Just recently, Dean was diagnosed
with another syndrome. It is called Short Gut Syndrome and it means thathe
has portions of intestinal track leading to signs and symptoms of nutritional
and metabolic derangement. It causes him to have a lot of diarrhea, fluid
and electrolyte abnormalities, and weight loss. He was put on Total
Parenteral Nutrition (TPN) while in the hospital. However, TPN does
have a long-term risk of causing liver damage. It can be required outside
of the hospital if needed, but Dean gets it only when he is in the hospital.
Dean was not diagnosed with ATR-X
until ???
Joseph
Joseph was born December 29, 1992.When
he was born he broke out with the same rash as Dean, but not as bad. Joseph
did take to breast feeding for about 2 months and then started throwing
up like Dean had. The doctors thought he might have had a blood clot on
the brain due to dehydration, but it went away. He was put into Intensive
Care at Children's Hospital of Birmingham when the medicine he was given
for his MRI affected his breathing. He was put on a resperator to help
him breath and was under a heated lamp to help his temprature stable. He
then went to Special Care Nursery for another 5 days. He was also on TPN
feeds during his hospital visits.
After Joseph was born we made an
appointment with medical genetics at Children's Hospital of Birmingham
on February 17, 1993, to have skin biopsies done to determine what the
boys had. It took 6 years to find out they had Alpha-Thalassemia
Mental Retardation Syndrome by Dr. Gibbons, from England, and Dr.Charles
E. Schwartz, Ph.D, from Greenwood, South Carolina.
He is now 7 years old. He can sit
but is woobally and can pull up on things with some help.. He can hold
on to toys and loves water and attention. He loves to go outside. He has
a wheelchair to help him get around. He can lift his bottom for me to change
his diaper. He can see and hear well. He knows when to get attention and
when he doesn't get it he gets really mad. He has AFO's for his feet and
braces for his arms, and makes noises for the needs he wants as well as
talking some. He loves the big screen TV we have. Like Dean he laughs outf
or no apparent reason. He is a very happy boy and always giving me a run
for my money. Even though he does not walk, he keeps me busy.
Recently Joseph had a GastrostomyTube
(G-Tube) placed after he go to where he could no longer swallow. Heis fed
thru the tube. He also had testical surgery in order to bring them down.
