November 8, 1992 is when it all began. Michael J. Abdulaziz and I, Michele S. Abdulaziz were married. Both of us wanting children and both wanted to start a family right away. Well right away is what we wanted and right away is what we got. February 1993 I was pregnant and would deliver a baby in November that year.

When we learned that we were going to be parents we were excited but scared at the same time. Thinking that this child would depend on us for everything. Then we would question ourselves "Would we be good parents to this child?" "Would we raise him/her to be a good person in this world?" I guess these are common questions first time parents ask themselves.

The doctors appointments were exciting. Going in every month, hearing things about the baby, hearing the heartbeat, and seeing pictures up on the wall of the stage our child was at. We took all normal routine tests that go along in pregnancy. The routine urine test when you go in, eventually the Triple-Marker, the famous diabetic test where you drink that really sweet syrup and then they test your sugar level and then between 18 - 20 weeks the first ultra sound. This is when our ObGyn did the first ultra sound. We were very excited about this. Getting to see what our baby looked like. Mike's mom and my mother, along with Mike and I were at the ultra sound. After drinking all that water and then the technician pushing on my stomach you would think that I would have released my bladder right then and there, but seeing the first glimpse of our little baby made all that go away. He was precious as could be. Everything looked normal from head to toe. The baby even woke up a little bit and moved for us. We got pictures and a little bit of video. We bought it home and would look at the pictures and the video and were amazed that this human life was living and growing inside of me.

The remainder of the pregnancy was normal. At week 34 my doctor likes to do another ultra sound. We went in and did one and again everything looked fine. She was a little concerned that the placenta was maturing too fast and that the baby was not getting enough nutrition. She did say that there was enough amniotic fluid there and not to be too concerned but to come back in a week to check and see what is going on.

We came back that next week. She asked the normal questions, "Is the baby still active?" "Have the movements changed in anyway?" Again I said, "No, everything has been the same." We proceeded to do the ultra sound. The technician always checked the baby from head to toe even if they were looking for just one thing. This time when he looked at the head he noticed something dark. He called the doctor in and she was a bit concerned. Said that it was probably nothing but would like me to see a specialist that does an ultra sound level II.

We made the appointment and went to Santa Monica. She did an abdominal view and said everything looks great. Sometimes there are shadows that appear that are really not problems. She would have to do a vaginal ultrasound since she could not see the other side of the head. At this point we were thinking we were in the clear. She began looking and said, "Yes I see something." Now my heart was racing and I wanted to know more. She said that there was a cyst on the 4th ventricle; an enlarged 4th ventricle and encephaloseal (where the skull did not fuse together and the meninges [thin membranes that cover the brain]) were exposed. At this point we were in shock. She gave the diagnosis of Dandy Walker Syndrome. She proceeded to tell us that he will need a shunt placed in the ventricle where tubing would be placed and go down into the stomach in order for the cerebral spinal fluid (CSF) to drain properly. Also said that they would just take a few stitches in the occipital region (lower portion of the back of the head) and then the skull will fuse together. At this point and time we were so devastated that we wanted to hear something good. We asked if she could tell what the sex was. She said that we were having a boy.

She then explained that this child should not be born vaginally. He should be delivered cesarean section (c-section). They did not want any pressure on the baby's head. She requested an amniocentesis to see if the baby's lungs were ready in order for delivery. Still being in shock of hearing everything, I kept wondering if this was a terrible dream and wanted to wake up so badly. While driving home I told Mike that if he wanted to divorce me and get remarried and have normal kids with someone else I would understand. He immediately pulled the car over and said "NO! We are in this together and I love you and my son no matter what. Do not ever say that again.! To this day I have never said that again.

We went back to our doctor where she had hospital rights and did the amnio. The preliminary results would be given early in the evening and the final results would be later that night. They scheduled a c-section for the next morning, which was a Friday just in case his lungs were ready. Needless to say my baby shower was that Saturday afternoon. I was already worried as to what to say to people in regards to the shower. Mike was saying do not worry things will work out. Right now you and the baby are more important. Approximately 11:00 PM that Thursday night my OBGYN called and said that the baby's lungs were not ready and we should monitor you and wait until the baby is 38 ½ weeks before we deliver. They did not want to delivery a child with neurological problems and respiratory problems as well.

The baby shower went as planned. We did not tell anyone that we knew there were problems other than our close families. As I sat there opening up presents I felt as if I were miles away. I could hear everyone voices around me as if I were off in the distance even though they were sitting right next to me. I did learn later that my best friend did notice that something was wrong with me that day and when she learned that there was something wrong after the birth she then put it together.

I was monitored for stress as well as the baby. Everything was going along well. We were right in the middle of getting our new house ready for us to move into before the baby was born. These next three weeks all I could do it think that maybe none of this was true. Just to wait and see what happens the day the baby will be born. Since we knew the delivery was going to be a c-section, we got to pick the date. We said how about 11/22/93. It had a nice ring to it. That day also happened to be the 25th anniversary of John F. Kennedy's death. 

Before we knew it 11/22/93 was here. I still remember waking up that morning and not wanting to go through with the delivery. I said he is safe where he is now and he can just stay inside me. We arrived at the hospital at 5:30 AM. I was hooked up to monitors and IV's were stuck in me. I was shaved and prepped for surgery. I walked to the c-section operating room in one of those utmost sexy hospital gowns that tie in the back with my backside in plain view. I walk by the nurses' station and there also happens to be all the doctors that were going to be involved in this c-section. Our pediatrician (which happened to be my pediatrician when I was a child insisted to be there for the delivery) an ultra sound technician was there to do an ultra sound of the baby's head after birth, the wonderful anesthesiologist who not only gives you the epidural but that wonderful drug morphine and many many more that I cannot remember. It seemed like there were tons of people in there. Mike was the only family that I could have in there.

With everything in place the surgery began. Before you knew it Joseph was born at 7:44 AM. I could hear him crying. They said he looked good. He weighted 7lbs 9ozs and was 20 ½ inches long. After Mike cut the cord they bundled him up with a cap on and Mike sat there holding him next to me. After looking at him I forgot everything that the ultra sound technician told us. There were no meninges out like she said. I thought that everything was prefect. Mike went with Joey to the Nursery and I was being sewed up. The only thing I remember after that was saying that I was not feeling too good and can I have the oxygen mask back. I remember waking up in the recovery room and Mike being beside me. I was freezing and wanted more blankets. They said this was a normal side effect.

Later that day I learned that 45 minutes after Joey was born and in the nursery he stopped breathing and turned blue. He was rushed over to NICU. They used an ambu bag on him to get him breathing again. He was placed in an oxygen hood and then hooked up to monitors. I was not allowed to get up out of bed since I had just had surgery. Mike would go and see him and report back to me. The nurses took Polaroid's and sent them to me so I could see him. That night I asked Mike to spend the night there since they gave me a private suite. I know they knew it would not be good to place me in a regular room along with another mother that had a healthy child. He slept on the sofa bed. In the middle of the night I hear CODE BLUE….. CODE BLUE!!! I sit up and start yelling to Mike to go and check on Joey. I knew something had happened. Mike ran down there and he was doing just fine. He asked the nurse why a code blue would be announced like that and she told him that it was not to be announced on our floor like that. Talk about a heart attack.

The next day I was up walking a little bit and was able to get in a wheelchair and go to see our beautiful Joey. It was also time to feed him. They told me that he was having problems feeding him. He would suck and swallow and not breathe. You would have to take the bottle out and let him take a breath and then begin to feed him again. He also had some tissue growths on his tongue and they thought that maybe that contributed to the eating problem. This was the first time I got to hold our little Joey. He was very precious. I gave him a bottle and boy did he suck and swallow but he did not stop to take a breath. You would pull it out and he would begin to breath and then you would place the bottle back and he would suck and swallow away. At some point they placed a Nasogastric Tube (n-tube, a tube placed down through the nose into the stomach). They also said they saw some seizure activity, a quivering chin on Joey and placed him on an anticonvulsant. They did and EEG and that came back normal. They also said they heard something weird with his heart and that maybe he had a hole in his heart. They did an EKG and that came back normal as well. SO all these tests and everything so far was coming back normal.

Day three he went in for an MRI. We got the results that there were some pieces missing, the ventricle was enlarged and there was a cyst. The Neonatologist also told us that Joey would never do anything but lay there. She also sent in some people from an institution to talk to us about placing Joey there. I spoke up and said wait, this child is only 3 days old and you are giving up on him already? He deserves a chance. She basically had written him off at this point. Needless to say we had met her during the amnio and her bedside manners then were not good whatsoever.

Day four was Thanksgiving and I was released from the hospital. They would no longer allow me to stay there. It was very hard for me to leave our little Joey there. I was wheeled out in a wheelchair like other mothers are when they are leaving the hospital except I was carrying a blue fluffy teddy bear that was brought to the hospital for Joey.

By that Friday, 5 days old there was nothing more they could do at this hospital and wanted to transfer him to Children's in Los Angeles. We had an appointment with a Neurosurgeon that Monday. We spent all of Friday, Saturday and Sunday at the hospital. We did come home and sleep but would return early in the morning. He was pretty stable. He did breath fast at times and the feeding was still an issue. He also would have apnea spells and therefore was placed on oxygen. We heard from the Neurosurgeon and he said that there would be no need for a shunt to be placed. The CSF is draining properly and that the ventricle was just enlarged. We never did meet him face to face.

Much of this was and still is a blur. I remember going and sitting in a rocking chair for hours holding Joey and rocking him. There were times we would walk up to the window and see that Joey was NOT laying there and panic. Since Joey was the only child not hooked up to tons of equipment, nurses would take him out and hold him, walk around with him. I was also told that a volunteer, and older lady would come and sit and rock Joey late at night when we were not there. I never got to meet that woman. But they said she took a liking to Joey very much. It is people like that, that we need more of in the world. 

I believe it was during the second week of Joey's stay that a Geneticist came in to see Joey and said he believes that Joey had Joubert Syndrome. But he would like to run a few more tests. After hearing this we talked to our pediatrician and told him what was told to us. He looked up Joubert Syndrome and when he read what was written we all said at that time that Joey did not have JS. We were basing it on all the characteristics. We also had a conference with a dozen doctors. We sat down with them in a meeting room and the head Neurologist said, "Tell us what it is you think is going on with your son." Mike proceeded to tell them everything that we knew and I would fill in where he would forget information. After a 20-minute talk from Mike and I the head doctor said "I do not know why we had this meeting. You know what we know about your son. You are 2 intelligent people and Joey is very lucky to have you both. We still have the feeding issue that will be addressed by the surgeon right now." The nurse presented what she had and then the surgeon suggested that a gastrostomy tube (g-tube) be placed in for eating. They said that it was a wise decision since they did not want him going home with the N-tube.

We met with the surgeon and signed all the necessary paper work for the surgery. They also coordinated with an Ear, Nose and Throat (ENT) doctor to be in this procedure so he could laser of the growths and also do a scope down his throat to see if there were any growths down his throat. The surgery went well with the G-tube and the laser surgery went well too. The ENT did report that there were no growths down the throat but he did find that Joey had paralyzed vocal cords. We said "Why can we hear him when he cries?" He replied, "The reason is because they are paralyzed in the closed position and that is what causes the sound, the vibration of the cords." He also stated that usually cords are paralyzed in the open position. He said he did not know if his cords would work again. He was not sure of the cause of the paralysis. It could have been because of the neurological problems or it could have been from the birth. Some times when the baby is pulled out it can do that. We informed him that Joey was delivered very carefully and that we thought that there was no damage done at birth. He said he was not sure if they would come back or not but to wait for the month check up. He did comment that since the cords were in the closed position that is why there were times that Joey was having a hard time breathing and was noisy. He had wanted to do a tracheotomy and we said no. We mentioned to him that Joey does reposition his head to breath better and the doctor saw that. He said lets see how he is when you come back for a follow-up visit.

Four days after the surgery he was ready to come home. December 10, 1993 was the first day that Joey came home with us. We had oxygen and an apnea monitor along with us. We were both very nervous bringing home this little baby with this equipment. We knew how to feed Joey, since the nurses at the hospital would show us what to do and then let us feed him. They told us we could call them anytime if we had questions. Which we did at first but as the weeks went on the calls were less and less.

January 17, 1994 was a scary moment for us. Joey had only been home about 5 weeks when at 4:31 am PST the Northridge earthquake hit. We had just finished feeding Joey at 4:25 am and we laid him in the middle of us in our bed. When all of a sudden we were awoken up by a huge jolt. It felt like someone picked up our house and was standing there shaking it up and down. I covered up Joey and Mike covered me and he had a pillow over his head. After the shaking quit, which seemed like forever, and after trying to find a flashlight we saw that my dresser had fallen over and a drawer was laying right where Joey would have been if he were to have still been in his cradle.

Weeks went on with doctors appointments. Seemed like they never ended. We eventually were spaced out with doctors appointments. First weekly, then every other week, then every 3 weeks etc….. We were also trying to reschedule an eye doctor appointment that we had to do the ERG. But due to the earthquake the machine was broken and they were waiting for a part. It was not until May 94 when we were able to take that test. That is the one test they were awaiting for to give the final diagnosis of Joubert Syndrome. I remember Mike and I taking Joey for this test not knowing what exactly it was. When I saw the things they place on the eyeball with wires I started to cry. How could they do this to a child so small? We did the test and got the results that the ERG was fine. We met with the Geneticist and he gave the final diagnosis of Joubert Syndrome. He gave us a little bit of information about the syndrome but we wanted to know anything and everything about this syndrome.

I do not remember how Mike heard about NORD, but he called there and got all information regarding JS. After receiving the papers in the mail, and read them all, Mike saw that there was a list of contacts for more information listed. He saw one that said Joubert Syndrome Parents In Touch Network. He called the number and talked to Mary Van Damme. This was June 94. They were just about to have the 2nd conference in Florida that July. We were still very overwhelmed with all the information that we said we would pass this conference but attend the next.

When Joey was approximately 4 months old we were in touch with the Early Intervention Program. That is when Joey started therapy. The next few years were pretty good. Not doing much other than therapy and taking care of our little boy.

We also decided that since we educate most of the doctors here, that we would go and see Dr. Maria once a year for Joey's neuro check-up. We do have a back up here just in case there are tests to be ran etc. Since Joey is on medication for seizures and if Dr. Maria would like tests ran. Our pediatrician has been wonderful with us and always corresponds with other doctors.

We have come a long way since those days. The days when I thought we would never leave the house, never travel, or do anything other than sit in the house. Since those days Joey has been to Hawaii 2 times, Chicago, Indiana, Maryland, Florida 4 times, Pennsylvania, Las Vegas numerous time, Laughlin, NV 2 times, San Francisco, and San Diego many times.  I know that we will travel as much as possible so there is no stopping us.  I guess you could say "Where in the USA is Joey and his family?". 

To date Joey rolls all over the place. He will try and follow you when you walk. He is trying very hard to crawl and we are working on that very hard in therapy. He attends the local public school that has a special education classroom. This September he will be in the 2nd grade. He also receives therapy at school. The therapy site is right on campus. The therapist comes and takes him out of the classroom, does therapy and brings him back. He also receives speech therapy there as well.

The most exciting progress that Joey has done is say MA MA…… He started saying the mmmmmmmmm sound while in Baltimore and during our extended vacation after the conference he was saying MA MA. What a joy that was and still is to hear.

Joey is a very loveable little boy. We work with him everyday in one way or another. There are other events that have taken place over the last 8 ½ years of Joey's life, but you would be reading an entire book if I were to write everything that has taken place.  I know Mike and I have learned more medical terms than we have ever expected.  I became an EMT (Emergency Medical Technician) in January 1998 to have more knowledge to help care for Joey.

This was written my Michele Abdulaziz, Joey's mom for a section of the book called "Purple Stew or What's My Child Got".  This was a book put together by a mother (Karen Tompkins) who has a child with Joubert Syndrome.  All proceeds from this book go to the Joubert Syndrome Foundation.  If you would like to purchase this book please visit the Joubert Syndrome Foundation web site and look under the "how you can help" section.

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