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Chris

KARYOTYPE: 46XY, del 3q (27-29)
DOB:
   December 7, 2001
Contact: Mari & Pedro
E-MAIL:  This email address is being protected from spambots. You need JavaScript enabled to view it.

When we found out we were expecting, we were ecstatic. The pregnancy was picture perfect. It was a textbook pregnancy. I worked up until the week before Chris was born. At 20 weeks into the pregnancy, we had a scare. A routine ultra sound showed that the baby was at risk of having down syndrome. We were thrilled when the amnio came back normal. The doctors decided that the baby was healthy and further ultrasounds were not needed. I felt uneasy, something was not right. I asked for another u/s, but my OB said that it was not medically necessary. I prayed that I was wrong. I didn't take any of the baby shower gifts, out of there boxes. These feelings I had, I kept to my self. At 35 weeks I was induced due to decelerations in his heart beat. I cried tears of joy, when I saw my little baby boy. He looked exactly like his older brother. They let me hold him for one-second and then grabbed him from me when his eyes rolled back. Our baby was unable to breath at birth. He was rushed to the NICU.

AN x-ray revealed that Chris was born with a diaphragmatic hernia. This means there was a hole in his diaphragm which allowed his abdominal organs to move into his chest. our world collapsed when the doctors explained the severity of our baby's condition. He had a 50/50 chance of surviving. As a result of his intestines & stomach being up in his chest, his lungs had not had room to develop. His right lung was underdeveloped, and his left one was practically non existent. His heart was displaced over to the right side of his chest.

Chris had surgery when he was 2 days old, to repair his diaphragm, and bring all of his abdominal organs back in there place. I suffered spinal leakage during a routine epideral and could not get out of my hospital bed. It was a few days before I could see my baby. I will never forget that feeling. Thinking that my baby was going to die, and not being able to be with him.

The day I had blood inserted into my spine to repair the damage, I went immediately to see Chris. Nothing could prepare me for that. I remember thinking that the DR's had used almost every single inch of him to connect him to something. He had a chest tube, a stomach tube, he was on a ventilator, and he had a central line inserted into a main vein near his heart.

To every ones surprise, Chris recovered nicely from his surgery and was off oxygen in 4 weeks and ready to come home. We were thrilled, however Chris developed severe reflux. He would throw up more than 1/2 his formula during each feed. He was not gaining anyweight. He developed a severe cough due to the formula entering his lungs, he had an aspirated pneumonia. We took him for an x-ray which revealed a partial right lung collapse as well, and back into the NICU he went.

Christopher associated eating with pain, and he started eating less and less. At this time he was 6 weeks old, and had not gained a single pound since birth. He was diagnosed as failure to thrive. At 6 weeks old he was still smaller than the average newborn, as he was only 5lbs 12 ounces.

Three days after he was readmitted his abdomen swelled up and he became very ill. An x-ray revealed he had necrotizing endocolotis. This is death of the small and large intestine. Once again our baby was critically ill. That night when we went to see him, the doctor was waiting for us along with a social worker. They told us that things did not look good. They showed us a series of x-rays, which showed black dots all over his intestines. I remember thinking that they were perfectly round black dots that looked like poka dots, and I was just over come with fear & shock. The DR said that those were the parts of his intestines that had already died.

Once again my baby had tubes coming out of every where. He had a stomach tube coming out of his nose, draining blood from his stomach. He also had bloody stools. I had to consent to an emergency blood transfusion. Another central line had to be inserted. Chris was put on 3 antibiotics, and he did not receive any food for 12 days, in order to rest his intestines. Chris didn't eat orally for months after that. When he was 2 months old he had surgery to install a gastrostomy tube.

At this time a geneticist examined Christopher and determined that he has a genetic condition. He performed a blood test for chromosome analysis which has come back normal. Chris had a muscle biopsy which came back normal. However the geneticist was positive that Chris had a genetic condition, and the testing continued for a few more months.

After an additional 6 weeks in the NICU, Chris came home on March 1, 2002. His reflux is still an issue. He was on a feeding pump. And we were sent home with a chart to help me administer his medication round the clock. When Chris was 5 1/2 months old he had a blood test called the FISH, which examines the tips of each chromosome. and we finally received a diagnosis. Chris has a partial deletion of Chr 3q. I remember asking his geneticist what this meant & he said that he didn't know but that "so far we do know that it has affected him greatly." At that moment I was terrified. I had seen my little one suffer greatly & fight for his life so hard...what would he go through in the future?

I am happy to report that Chris is now 2 years old & doing extremely well. We are so thankful and happy to have him in our lives. He is living proof of one of Gods miracles. many people near and far prayed for Chris. We are very thankful for that. Gosh, I can barely believe it myself. If you see Chris today, it is impossible to believe all of what he has endured. This little boy, who at one point many questioned if he would even walk, is now walking, climbing, and talking! He sat without support at 9 months. Crawled on all fours at 10 months. Pulled to a stand at 10 months. Cruised furniture at 11 months. He took his first independent steps at 15 months. started feeding with a spoon at 16 months. He is a very bright little boy. At 2 yrs old, he knows his shapes & colors. He can count up to 15. His vocabulary consist of about 100 words. We are happy to report that he is now using 2 word combinations, & even some 3 word combinations. He is presently being potty trained. He is very happy & full of energy. He loves to play with legos & puzzles. He is very lovable & is always asking for hugs & kisses. Whenever I catch him doing something bad, such as messing with the knobs on the stove, he will smile at me & say "big hug mama?" He definitely knows how to manipulate me. He is with in age range in cognitive development. His social skills are also with in the adequate range. A recent evaluation concluded that his fine motor skills are delayed by 7 months, and his gross motor are about 1 yr. delayed. His speech & expressive skills are about 8 months behind. Each morning when I wake up Chris greets me with one of his big smiles, he is just such a joy to be around. About 2 months ago, he had a sever allergic reaction to an unknown source. When I went to his room I was shocked to see his eyes were swollen shut, and his head was bigger than normal. He smiled at me & said "hello mama!" I grabbed him & ran off to the ER where they administered steroids & the epi pin. He is just happy all the time, the only down fall to that is that I worry about him being sick & us not being able to tell because he is always in such a good mood.

Medical info about Chris:

Christopher is an ex-35 week (4lbs 15 oz) Preemie child whose postnatal course was complicated by a diaphragmatic hernia, underdeveloped lungs, NEC, failure to thrive, reflux, aspirated pneumonia, partial right lung collapse. He required mechanical ventilation for 10 days, and additional oxygen for another 3 weeks. He was in the NICU for 10 weeks. Christopher has a chromosome deletion (3q27- 3q29), and Duane retraction syndrome. CDH repaired at 2 days old. Developed oral aversion. Gastrostomy tube placed at 2 months of age. G-tube revision at 11 months old. He was fed via a feeding machine until the age of 18 months. Muscle eye surgery at 12 months. G-tube removed on June 26, 2003. He now takes pediasure, table foods, & liquids by mouth, He is on atropine drops to correct his eye misalignment. Chris receives p/t due to Hypertonia, o/t, and speech therapy twice a week each. He also receives special instruction once a week. Chris was labeled as having multiple dysmorphic features & developmental delays. He has low set ears, and a pectus excavatum. Chris's reflux has improved greatly & he is presently not on any medication. However he still projectile vomits a couple of times a week. Mainly I believe due to behavior issues. Chris will be having his second eye muscle surgery this month. 

Chris's profile was updated approximately in 2005.