Bennett

Age: 2yrs 7mos 
Duplication: 46, XY,der(7)t(4;7)(p15.1;p22.3) de novo 
Lives in: California (Northern), USA 

Bennett came into this world on a hot August day in Dubai, UAE. It was a planned cesarian and nothing out of the ordinary rang alarm bells. We had a precious little boy with a ‘quirky’ newborn cry. Over the course of the five days in the hospital things seemed to be going as well as could be expected for second-time parents bumbling over a baby trying to remember/figure out the whole newborn stage...again. 

In retrospect, our initial observations should have alerted us, and the numerous pediatricians that cycled through on scheduled rounds, that Bennett was an unique individual. First, B was smaller than either my husband or I had expected. My OB kept insisting that B was measuring up to be a big baby, so Eric and I were quite surprised and a little concerned when B came out at only 6 pounds 3 ounces. Second was the cry. I know each baby has its own sound, but Bennett’s cry just sounded a little off, for lack of a better term, and panicked. Next was Bennett’s eyes. They were going in opposite directions. Then there was the sacral dimple. The feet were normal except for the big left toe, it sort of curled over the toe next to it. Finally was the breath holding. B was breath holding and turning blue when too upset, which infants should not be doing. 

 On the other hand, so many aspects seemed to be going right. Bennett was a little jaundiced, but he only needed the absolute minimum UV therapy to overcome. He was latching and feeding well. Dozens of nurses and several pediatricians, including my older son’s two pediatricians, inspected, observed, took stats and all agreed he was a thriving newborn with just a couple of quirks. 

We moved back to the states when Bennett was just 8 weeks old. My older son’s first pediatrician in Colorado, whom I absolutely loved and trusted implicitly, saw Bennett and agreed with the assessment of the other docs back in Dubai; Bennett had some quirks, but they weren’t a big deal. The eyes would eventually come together. The toe could be fixed if he didn’t grow out of it and the sacral dimple was small and unconcerning. The one aspect that the doctor did home in on immediately was Bennett’s sensory issues. She felt that he seemed uncomfortable as well as tense and that he would benefit from either Craniosacral Therapy (CS) or Occupational Therapy. I went to see the CS therapist that I had taken my older son to and saw an immediate improvement in Bennett. He seemed more relaxed and happy. He was also still hitting the necessary milestones. The only issue he was having at this point was ear infections. Bennett developed his first infection at 2 weeks and kept getting them despite the fact that I was breast feeding. The frequent ear infections resulted in repeated failed hearing tests. 

We finally moved and permanently settled in Northern California when Bennett was four months old. The new pediatrician I found for the boys again confirmed that Bennett was thriving. She did refer me to a ophthalmologist to see about the eyes only because I pressed the issue. It is at this time when the proverbial can of worms opened. 

From the time Bennett was six months thru ten months, we saw a slew of specialists: two ophthalmologists, two orthopedists, an endocrinologist, an ENT, we started PT and OT, saw an urologist, hearing specialists and two neurologists. Most of the specialists were referred to me because I pressed for them,while others were referred by another doc. Most of the doctors saw no reason to be concerned as subsequent tests and examinations didn’t show anything obvious...he just had some unique physical traits. The developmental delays I was starting to see weren’t technically delays at this point so the docs weren’t particularly concerned. Finally, the second orthopedist and second neurologist, banded together and ordered tests that they felt were overkill, but considering the fact that B was getting further behind developmentally and that we had seen so many specialists up to this point, they finally agreed to extensive blood work and a head and spine MRI. 

It was exactly two weeks before Bennett turned one that our - mine, Eric’s, Lincoln’s and Bennett’s - world would be turned topsy turvy. The MRI came back great. The blood work, on the other hand, showed that Bennett had Trisomy 4P. What did that mean? The neurologist tried to be as helpful as possible, but all she could provide were statistics indicating that it was such a rare chromosomal syndrome fewer than 100 known cases existed. Any other information was virtually nonexistent.

  
The lack of information provided to us at the time was a blessing and a curse. We were free to help Bennett chart unknown territory without having the burden of really knowing the potential negative side effects. We could focus solely on the positive: with hard work and early intervention and Bennett’s determined personality, he could over come obstacles and conquer his world. 

Today Bennett is thriving. The tubes in the ears stopped the chronic infections and he finally passed a hearing test. The eyes mostly corrected themselves, but his left is apt to stray outward when he is tired or unfocused. We operated on the toe, which turned out to be a deformed toe joint, and he immediately seemed more at ease putting pressure on his feet. We regularly see our neurologist, orthopedist, ophthalmologist and geneticist. We may need to revisit the endocrinologist in the future, but for now there is no need. 

Our week is comprised of physical, speech, oral motor/feeding, cognitive and occupational therapies. Often times he is wearing his TheraTogs suit, which helps with his sensory processing disorder. He is still severely delayed in speech and gross motor skills, but he is able to eat more and more on his own and he is on the cusp of walking. Signing, fortunately and unfortunately, is his main way of communicating. He is now able to motor plan so well that he picks up signs quite fast, but I personally believe that it is hindering his desire to communicate verbally. His ability to listen and follow directions is about as good as any two year old. The skills he has acquired and is still trying to master don't come easily and it is always a huge accomplishment with a big celebration when he hits a milestone. 

Bennett loves going to his daycare/preschool two days a week. I believe being in a regular environment with other children has helped him tremendously in achieving his milestones. The therapists help cultivate the motor planning, but being surrounded other kids provides him with the opportunity to observe and copy in a more natural manner. Cars, trains, trucks and dogs are his absolute delight. Big brother Lincoln is by far B’s favorite person, with mom and dad closely following. Bennett’s laughter lights up the room and his smile is infectious. 

I don’t know what the future holds for Bennett, but I know that with his drive and absolute lovable nature, he will succeed at whatever he puts his mind to and he will be happy and will continue to bring happiness to all those fortunate enough to know him.