Two of God's Special Angels
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 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 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.
While Dean and Joseph are truly two God's special angels, there family is also special. It takes a lot to handle the day to day happenings of children with physical disabilities yet their family handles it. The following is a little about them (some information is from the family and some is from the author of this page).
Amy was born May 30, 1991 and is between the boys. She was normal at birth and always has been ok. She could very well be a carrier of this syndrome. She herself is also a special angel.for she is very loving to both her brothers and treats them just like any other sibling would, with unconditional love.
Dena is a mother with a heart of gold. She loves her kids unconditionally, just as most any mother does,however, she does not look at the negative aspects of what has been handed her, but at the positve. She treats her kids as kids, letting them play just as any kid does. She tries to make their life as normal as is possible and let them experience what it is like being a kid. She does not think of them as a burden, but as a blessing. She definately shows that with a little perserverance, you can overcome most any obstacle.
Randy is their step-father and the husband of their mother.. He is special in that when he met Dena, he acceptedher kids and overlooked their disabilities and gave them unconditional love.
Here is a very beautiful poem that says a lot ....
This page was done by a friend of Dena's after he heard their story and found very few sites regarding thiscondition. I wanted to give a place where the boys story could be told.May God bless this family and give them continued strength.
Please go to the following link to see some of the people that we are thankful to have in our lives.� Besides the ones on this page there are many that go unnamed yet have made a difference. Whether listed or not we thank all those that have help out with the boys and helped get our family thru this day to day..
This award was given to us by Jeff who created this site for us.
� 2000-2006 jsn