ROBERTRetrun to 22q Stories
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On April 5, 2010, Robert was welcomed into the world and into our family. He joined his Mom (Debbie), Daddy (Harris) and his big brother, Harris (age 5). He was born at 39 weeks gestational via planned C-Section. He weighed 6 lbs., 8 oz. and was 19¼ inches long. His head size was 13.25. He scored 9 and 9 on the Apgar Scale. However, he was on the small side (at least to us). His big brother, who was also born at 39 weeks via and emergency c-section, weighed 8 lbs., 5 oz. and was 20 inches long so we were use to bigger babies.
Robert did not want to latch on in the hospital so we began bottle-feeding. We thought nothing of this and never did we suspect that it could be from a swallowing issue (will discuss further down). Robert developed jaundice and was treated in the hospital. We went home on the 4th day and everything seemed fine. We went to see our pediatrician the next day for a weight check and he thought Robert looked jaundice still. He ordered a bilirubin test and it was high. He ordered blanket lights and home healthcare for us.
Robert stayed under the blankets for 3-4 days and we also exposed him to lots of natural light through the window. Once his numbers came down, he was taken off the blanket lights. His levels never got over 18. Over the next 5 months he seemed to be developing and growing normally. He rolled over 4 days prior to his 4th month, right on schedule. He was still very small though and always around the 3rd to 5th percentile on the growth chart at each of his visits. Though, his length did get up to the 20th percentile at one visit.
He needed PT for torticollis (when the baby’s head tilts to one side and they always seem to look in one direction) around 2 months. This was corrected with the PT and at 8 1/2 months he showed no signs of it. Around 6 months we noted to ourselves and to our pediatrician that he wasn’t sitting up and was not babbling. Robert had been on Zantac for Acid Reflux. He was still not eating very much at each feeding (less than 4 oz. every 3 hours) and he refused to eat off of a spoon for the most part. We had been trying the spoon feeding since 4 months. A swallow study was ordered and an evaluation by the CDSA (Children’s Developmental Services Agency which is the local branch of the NC Department of Health and Human Services) in our County. We had the swallow study in November, when Robert was 7 months old. He had what they considered a failed swallow study. He was fine while eating baby food and small finger (though he wouldn’t eat these very often) but when swallowing his formula a very little bit would go down his airway with each swallow. While it was just a little bit with each swallow, over a bottle it adds up to a lot because it takes a lot of swallows to drink the bottle.
Our plan of action was to thicken all liquids with cereal. For every ounce of formula we would add a tablespoon of cereal. This makes the formula very thick, thicker than a milkshake. His eating got better but it was still not great and his weight gain was not what we had hoped it would be. He was accepted into the Kids Eat Program at Wake Forest/Baptist Hospital Medical center. This is an eating disorder program for children. He continued to show developmental delays and the CDSA came out to evaluate him on December 10, 2010.
Here is what they said:
He was evaluated using the Early Learning Accomplishment Profile (E-LAP). He was 8 months 5 days and he was found to be functioning at the following developmental levels Gross Motor- 7 months Fine Motor: 8 months Cognitive: 7 months Language: 6 months.
My husband and I asked our pediatrician to refer us to a Pediatric Neurologist to examine him. We wanted to rule out any one condition that could be causing all of the problems so we could know if the issues were individual issues or the results of a bigger condition/disease. While waiting for our appointment with the pediatric neurologist on December 23 (a total of 10 days from scheduling it), Robert began sitting up, going from laying to sitting by himself, army crawling and getting up on all fours rocking back and forth (the beginning of regular crawling). He also began making a lot of more noises, though he was still not mimicking or saying DaDaDaDa, MaMaMaMa, BaBaBaBa, etc.
However, I guess he heard someone say he was delayed and he was out to prove us wrong. We were more than thrilled. We just knew the Pediatric Neurologist was going to laugh at us because he seemed to be catching up with almost all of his development. But that didn’t happen.
We met with Dr. Chon Lee at Wake Forest Baptist Hospital on December 23rd. She is a Pediatric Neurologist. She has been a Pediatrician for almost 19 years. However, she only recently (2009) completed her residency in pediatric neurology and her pediatric neurology fellowship (2010). She asked us a lot of questions about Robert and about our family medical history. She then examined him and found that his head circumference is right at or a little below the 3rd percentile. She felt the top of his head and said she felt ridges. She suspected that the two coronal sutures (bones) of his skull might have prematurely fused together. She said she would like to do a CT scan that day. Of course we said, “absolutely.” She continued to examine him and noted that he also had High Tone in his arms and legs. This could mean a variety of things and she would not speculate anything. She then said she would like to forgo the CT scan and do a MRI. That way she could see more than just the bones. She also had blood drawn and a urine sample taken that same day to look at genetic and metabolic conditions. She informed us that some test might take up to a month to get the results. Robert had his MRI on December 30.
They put him to sleep and the test took about an hour. That evening he was not feeling well and developed a fever. We took him to see our pediatrician the next day to have him checked out and also hoped to get the MRI results. He examined him and diagnosed him with a double ear infection (explained the fever). He was put on antibiotics. This was his 3rd round of ear infections. He also gave us the preliminary report from the MRI. He stated that the results showed that Robert has a neuronal migration abnormality. He couldn’t really explain much to us and cautioned us to wait until we talked to Dr. Lee, the neurologist.
The MRI did not show us the skull, which would have given us indication of the Craniosynostsis. After the New Year, we were able to talk with Dr. Lee over the phone and she told us a little bit about the MRI. She stated that the Radiologist said that Robert had too much grey matter in the frontal lobe but she felt by looking at it that he had too little white matter. I asked what either of those meant and Dr. Lee said she didn’t know. On January 4 we took Robert to the Kids Eat program and after evaluating him they really felt like his biggest problem as it relates to eating is his Acid Reflux. They switched him to Prevacid and it did wonders. We asked our peditrician to order a 3D CT scan to see if Robert had Craniosynostsis since the MRI did not give us a clear answer.
We had this CT scan on January 11. On the 12th we went to see Dr. Claire Sanger, a pediatric plastic surgeon at Brenner’s Children Hospital in Winston Salem and she showed us the results showed Robert DID NOT have Craniosynostsis. That is excellent news and means there will be no need for surgery. She stated other than being small; his head seems pretty normal! Dr. Lee referred us to genetics at Brenner’s. We met with Dr. Chad Haldeman-Englert in January 2011. He said he could not pin point any specific syndrome by looking at Robert, however, he suggested we go forward with genetic testing.
Robert’s test came back in February of 2011 showing that he had 22q11.2 Deletion Syndrome. Dr. Chad (as he asked us to call him) was completely surprised but said that Robert did have some of the symptons: high tone in legs, feeding issues, delayed motor skills. We had his heart, kidneys, spine and calcium checked and all came back perfect. Which was great news! Robert is 17 months now (as of September 2011) and he is walking (started at 16 months) and still on thickened liquids, however, he has graduated from Honey to Nectar. He receives Speech Therapy and Physical Therapy several times a month each. He only says “baba” at this time. In April of 2011 he had surgery to repair his submucus palette and bifid uvula. He also had tubes put in due to 8 ear infections he had had. Robert is a delightful child and has been a wonderful addition to our family and lives. His favorite toy is his Big Brother.
He laughs from his belly and is into everything.