Bobby
Mosaic Trisomy 16
Editorial note: With great sadness we report that Bobby passed away at the age of 5, in December 1996, from a pulmonary hemorrhage, as a result of his primary pulmonary hypertension. Please keep his family in your prayers.
The story you are about to read is about my son, Bobby, who was born with a Trisomy 16 Mosaicism. I have been told by people who have been on this website that it is one of the sadder more depressing stories to read. In many ways that bothers me, as I am the one that lived through it, and, as sad and as horrible as the outcome of his story is, I can't stress enough that I wouldn't trade one second of the time I had with him and the absolute joy he brought me, for anything in the world. Yes, he/we went through a lot, as far as hospitalizations, surgeries, tests, doctor visits, etc., but, in every other way, he was one of the most loving, upbeat, intelligent, well rounded, friendliest, most outgoing, "normal", not to mention adorable, children, who, for whatever reason, managed to touch just about any person he came in contact with. He was a gift to me, and, during those 5 years, I was honored and blessed, and I truly feel like the luckiest person in the world to be able to say that he was my son and I was his mother, and he will be a big part of my heart forever.
This is the story of my son, Robert "Bobby", Jr., who, as you will read, was born with a Trisomy 16 mosaicism abnormality, as well as many other physical and medical problems, probably due to the chromosome abnormality, but possibly not. I (his mother) have written, to the best of my memory, the details of what it was like for my husband and I, as well as for Bobby, to go through all he/we did.
I am sorry if our story seems so long, when actually his life was cut short, as he, unfortunately, only lived for only 5 years, 3 months and 4 days. However, I feel that certain details are important to share, such as our feelings, Bobby's way of dealing with his situation, etc. Those five years have left an impression on us and those who knew him, more than anyone could ever imagine, and, although, the end result is not a good one, I hope that our story will help inspire any of you faced with a similar situation, and, hopefully, with stories like ours, there will be help, in the future, for those children born with such problems. I, also, hope that those of you who have a child with a Trisomy 16 chromosome abnormality will not feel alone, as we did in having to deal with Bobby's problems.
Also, although we don't have our son anymore, I am still very much interested in any new findings that may develop through The Disorders of Chromosome 16 Foundation, for this chromosome abnormality, as each case seems to be different, and I would be more than happy to speak with anyone who wishes to speak with me.
I, especially, want to stress the absolute joy Bobby brought us, and that we wouldn't trade one minute of our time with him (and all was not pleasant as you will read) for anything in the world. In the long run, he has given us his inner strength, to help us try to deal with losing him. He is and always will be our angel.
Our lives were changed forever (more than we ever thought possible) in January 1991, when we found out we were having a baby, who was due on Friday, September 13, 1991. As the pregnancy continued, I underwent the usual tests, and felt absolutely wonderful.
When it came time for all the tests, I wasn't the least bit worried because I felt that good. Even when my AFP came out too high or low (I don't remember which), I wasn't worried because two of my sister-in-laws both had similar situations, went on to have amnios, and both of their babies were normal and fine. However, because my doctors thought there was a chance that the baby had spina bifida and they were unable to really see my baby's spine because of it's position, I decided to go for the amnio, but I truly didn't feel there would be anything wrong. That was probably the last time I was so optimistic, as it seemed like everything seemed to snowball.
The amnio showed that there was a Trisomy 16 mosaicism and what that meant, NOBODY knew. My obstetrician said he called the "Genetics Capital" in New Mexico, and they had nothing documented anywhere on Trisomy 16 mosaicism, which led them to believe that such a baby was, most likely, incompatible with life, and there was a very good chance that I could miscarry, as it was felt that was why there are no documented cases of this, since they most likely miscarried.
After going for genetics counseling, we weren't given very much hope of anything. However, they did suggest going for a PUBS test, which is where they take the blood from the umbilical cord to see if the chromosome abnormality was actually in the baby's blood or possibly it was just in the placenta or amniotic fluid. I went for the consultation for the PUBS, and, ultimately decided against it, as it was another invasive procedure, like an amnio, and no matter what they found, it still wasn't telling us anything. However, when I went for the PUBS consultation, they did a more extensive sonogram, including a fetal echocardiogram, and found that the baby had a heart abnormality.
As devastating as it was, at the time, just a few months before this, our niece, at 13 months old, had open heart surgery for a ventriculoseptal defect (VSD, or hole in her heart), and did beautifully, and was "fixed" and expected to be perfectly fine, so, we felt that, if we had to deal with this again, we knew all the right doctors to go to and hopefully that would be the worst of it. Our niece did not have any chromosome abnormality, and it was felt (and still is) that both cases were just "fluky".
This is what I meant when I said things snowballed. One thing, which was thought to be the problem, such as spina bifida, would turn out OK, but they'd find the chromosome abnormality, and from there we found the heart problem.
It was, also, suggested that if we wanted to terminate the pregnancy, we didn't have much more time, but, again, they weren't giving us any reason to. So, we decided to just let it be, and if it was meant to happen (losing the baby), we would deal with it then, plus, I really felt great.
Anyhow, because of the heart problem, I was transferred to the care of "High-Risk" doctors, at another hospital, in my seventh month. At the end of my seventh month, my doctors felt that the baby wasn't growing enough, and I went for weekly biophysical profiles and non-stress tests twice a week, just to make sure that he was moving and growing, even though it was at a slow rate. (It was suggested that I gain extra weight in the hope that the baby would get some of it. Unfortunately, I gained ten pounds, and he gained one ounce.)
Finally, on September 9, 1991 (four days before my due date), our son, Robert, Jr., (Bobby) was born at 4 pounds, 10 ounces, 17 inches long, via normal spontaneous vaginal delivery. Though he was placed in a Neonatal Intensive Care Unit, because of his size, he required no life support or medical equipment of any kind. The goal was for him to gain weight to go home. On examination, it was found that he had a heart defect called a double outlet right ventricle (which is the defect that the doctors expected from the fetal echos). His blood test showed that the Trisomy 16 mosaicism was not present in his blood, however, on testing an eraser head size sample of skin from his back, it was found that it was present in 12-13 percent of his skin cells. What this meant was not necessarily known, at the time, and still isn't. He did have some physical abnormalities, some of which were more noticeable to doctors than to us or anyone else. His ears were low, he had hypoplastic (small) nipples, he had a hyper-reflexic right thumb, and most of his fingers seemed double jointed, his feet were felt to be turned out (possibly from his position in utero), along with having a flat nasal bridge, and he was felt to have dysmorphic features. He was also found to have hypospadias with chordee of his penis. (Ultimately, he really had a lot of my and my husband's features, as well, just very tiny.)
After two weeks of staying in the hospital to gain weight, he came home, and, other than being so tiny and not the greatest eater, he seemed like any other baby we knew.
At six weeks of age he was found to have bilateral inguinal hernias, for which he had his first surgery to repair them. It was supposed to be a one day surgery, but, because his chest was somewhat congested after surgery, they kept him overnight, and went home the next day.
He was gaining weight at a slow rate, and the cardiologist did a cardiac catheterization on him in January 1992. His heart defect was confirmed, but it was felt that he should be at least 11 pounds, before this was done.
In March 1992, he reached that weight, and the surgery was performed, with no complications, and within two weeks he came home.
In October 1992, he had his hypospadias surgery, and then again had a revision of it in October 1993, and all went well there, too.
We thought that the worst was over, as far as his heart was concerned, but in January 1993, after doing another cardiac catheterization, it was found that he had pulmonary hypertension, which was felt he could outgrow and, since the pulmonary pressures were not that high (I guess in the danger zone). We were told we should just do things normally, and, eventually, we may have to be referred to a physician at Babies and Childrens Hospital at Columbia Presbyterian Medical Center in Manhattan whose main research is pulmonary hypertension. We found out later on that children/families came from all over the world to see her for the possibility of treatment, as part of her research was attempting treatment with an experimental drug called Prostacyclin, which could only be administered through a Broviac intravenous pump in the chest, and she was the only or one of few doctors given a grant to use this medicine.
In January 1994 and May 1994, Bobby developed pneumonia which required him to be hospitalized. At this time, the cardiologist felt that it was time to see the doctor in Manhattan for the pulmonary hypertension, as his lungs seemed to be more effected.
In June 1994, after visiting her and having a cardiac catheterization in July, it was thought that Bobby possibly had pulmonary venous stenosis, or a blockage in his veins, and that this could be surgically repaired, and the surgeon who looked at the films agreed. Therefore, we felt we had no choice....if he could be fixed, we had to try. Unfortunately, this was not the case.
During the surgery, it was found that his left lung was very tiny and abnormally shaped, compared to the right, and not fully functioning, and that the veins that they thought were blocked were, instead, very tiny and thick, and, though, the surgeon put in a patch to open the vein(s) up as much as possible, the disease of the pulmonary hypertension was also into all the veins going into the lungs, which could not possibly be fixed. Therefore, he was diagnosed with primary pulmonary hypertension (PPH) and acquired progressive pulmonary vein stenosis. The PPH is very rare, with no known cure, and, though, there was the experimental drug used to treat some patients with this, Bobby was not felt to have such high pressures to warrant that, at the time, and was put on a bunch of other oral medications, Lasix, Digoxin, Aldactone, Coumadin, and, eventually, Procardia XL, as well as inhalers.
His stay in the hospital, after that surgery, was horrible. He was on a respirator for over 3 weeks, at one point being re-intubated because he couldn't breathe on his own because his diaphragm had been nicked during the surgery and that needed to hopefully heal itself. One night, he wasn't expected to live through the night, as he had a bad reaction to one of the medications, Nifedipine, and his body systems shut down, and his body filled up with fluid. Somehow, he fought that off, and got better. After coming off the respirator, he required oxygen for 24 hours, and, after a week, he came home, still requiring the 24-hour oxygen.
It was during this stay in the hospital, however, that the nurses in the Intensive Care Unit found an article on a baby who had been born with Trisomy 16 mosaicism in England, and, though the baby only lived for 11 weeks, due to multiple medical problems, we found that many of the phenotypes that this baby exhibited our son did as well, which were a lot of the characteristics I mentioned when he was born. This was the first time we had ever seen anything written on Trisomy 16, other than the case study that Bobby's geneticist wrote on him.
The stress of this surgery/hospitalization really took it's toll on Bobby, and seemed to be somewhat of a turning point for him. He lost every little bit of baby fat he had, and his energy level, though he never had an abundance of energy to begin with, seemed to go down considerably. His breathing seemed a little harder than it had been before the surgery, and we still, to this day, feel that the surgery might have done more harm than good, but, again, at the time, we felt we had no choice but to try.
After a cardiac catheterization in December 1994, they felt that his pressures were still high, but they would try giving him the oral medicine, which was Procardia XL, rather than the intravenous. During that Winter, he had the usual colds, which tended to go right to his chest, and took a good 2 to 2 1/2 weeks to get out of his system. His inhalers would be increased, during these times, and seemed to do the trick. Then, out of the blue, on 7/04/95 (almost 4 years old), we noticed he was having a hard time breathing, and, since we had a pulse oximeter at home, tested his saturations, and found them to be in the low 70's, which the day before had been in the mid to high 90's. Nevertheless, we drove him to Columbia Presbyterian in Manhattan to the Emergency Room, where he was admitted and was found, at that time to have RSV, and, though, there is no real cure, as it is a virus, there is an inhaled medicine that can be given through a tent, which can lessen it's effects somewhat. However, it had the reverse effect on him, even with maximum oxygen by mask, while in the tent. After a horrible night of watching him not being able to breathe and having his bed shake with every breath, he was finally taken to the Intensive Care Unit and intubated. Little did we know at the time he (we) would be spending about another month there, just like the previous Summer. His recovery from RSV was very long, and he could only be extubated if put on experimental Nitrous Oxide, as that seemed to help him. After being hooked up to, what looked like space gear on his head, he finally got weaned off the Nitrous Oxide, to regular oxygen, and got to go home. Again, he was on 24 hour oxygen, which he was on for a longer period of time (about six weeks), and he took a very long time to get back to his usual "self".
In the middle of all these hospitalizations, we had also been to the orthopedist a few times, as he was concerned that Bobby has a slight scoliosis of his spine, which can happen, apparently, in children who undergo open heart surgery.
We also went to a hand surgeon, as Bobby had virtually no strength in his right thumb, and it was very difficult for him to perform picking up even little objects between his index finger and thumb. He would use his index and middle finger as one would normally use a thumb and index finger, such as to put coins in a machine, a key in a door and to pick up small objects. It was found that he was missing either a muscle or tendon in the palm of his hand, just under the thumb, and the surgeon suggested changing his handedness, as surgery could be performed, but it still wouldn't give him 100 percent use of his thumb, and it would be essentially "frozen" in position. As he was 3 1/2 when he had this consultation, and was already writing his name (somewhat - even though he held the pencil "wrong"), we tried it for about 2 months, and he was extremely frustrated, and then, when he got sick with RSV in July 1995, we felt we didn't care if he could write with his toes. He continued getting Occupational Therapy for this, and, ultimately, did just fine and used pencils, eating utensils, etc., in whatever way was comfortable for him.
In October 1995, we found out we were unexpectedly expecting another child in June 1996, which we were both nervous and excited about. After having a CVS procedure, fetal echocardiogram and every other possible test, we were assured that we would have a healthy baby boy. Bobby was very excited about being a big brother. Six months before he was born, Bobby already named him "Danny".
During that Winter, 1995-1996, Bobby seemed to be doing really well, health-wise, and managed to make it through the Winter with no colds or upper respiratory infections.
In May 1996, he had another cardiac catheterization, which, however, proved not to be very good news. It seemed that the PPH, along with the acquired pulmonary vein stenosis, had spread more into his right lung (the good one), as well, with his left lung seeming to function less than it was. Though, his cardiologist was not happy with what she found, she felt he was "holding his own" and, with having such a good Winter, she wanted to just "play it by ear". She did want to take him off the Procardia XL because she felt his oxygen saturations were too low, possibly because of the medicine, and she felt that it was more important that the oxygen move through his body and have his pressures a little higher, than the reverse, and we would see how he does. After two days off the Procardia, his oxygen saturations were 100 percent, completely normal. Now, the question was how were they going to control the pressures. We were also told, at this time, that, down the road, he would need a double lung transplant, and, though he probably would have qualified for going on a donor list, her feeling was, as was our's, that there is no way he would survive this, due to his size. All in all, we were fairly optimistic, mostly because of his oxygen levels improving so much and the fact that he had made it through almost a year with not so much as a cold.
The following month, we had Danny, 7 pounds, 13 ounces, a perfectly healthy little boy. Bobby went through the usual jealousy over having a baby, but, for the most part, he couldn't do enough for him, so much so that he wanted to know when Danny would get oxygen too.
In October 1996, Bobby started developing, what seemed to be a post-nasal drip cough, on and off. After going to the pediatrician numerous times, they felt it was just allergies (my gut told me it didn't seem like allergies, as I have them), but his chest was always clear, so the fact that whatever he had was not in his lungs made allergies seem like more of a possibility.
Then, towards the end of November, around the 25th, he started vomiting, at least once every day.
One of those nights, while at a cousin's birthday party, he appeared to choke on a drink or potato chip, and threw up blood. At the time, he seemed a little delirious, but snapped out of it, and didn't throw up anymore blood. A friend of mine there said that her child had done the same thing recently, after cutting her mouth on a Dorito, but, due to Bobby's history, it seemed like it could be more. After calling the pediatrician, we were told to keep an eye on him, and that, since it cleared up, it could be nothing, but, if it should happen again, go to the Emergency Room. The rest of the night he seemed completely fine.
After 2+ weeks of vomiting, and losing four pounds (now down to 20 pounds), the reality of a stomach virus went out the window. Feeling totally desperate, I called his cardiologist who said to bring him in immediately. After doing a multitude of tests, I was called the next day, December 4, and told that he had RSV again, and that he needed to be admitted. As glad as I was that they finally found a problem, all I could think of was another month long stay on a respirator. However, the doctor assured me that he should hopefully recuperate in about one week with the tent treatment, as it seemed to be more nasal than respiratory. (Had I known that RSV could effect you nasally, and wish I did, I would have asked the pediatricians to test him. I do feel, however, that they should have known enough to test him without my asking.) The holidays were also coming, and I couldn't help but think his Christmas would be so horrible if spent in the hospital. All in all, though, his stay in the hospital went well. After one day, he stopped vomiting, but the doctor's main concern was getting him to gain weight, as he had absolutely no reserve to fight much of anything. They tried a feeding tube, which he couldn't tolerate, and, basically, we tried to feed him everything and anything that he would eat (which was pretty much what I had done with him on a daily basis, anyway). He gained back about two pounds, and seven days later, on Wednesday, December 11, we went home. His cardiologist said he could even go back to school the following Monday, as he seemed fine.
However, on Friday, December 13, 1996, after a normal day, we went shopping, bought our Christmas tree, which Bobby "helped" carry in the house, he said he was feeling well and wanted to go see the "big" Christmas tree, which there is one here, on Long Island, kind of like a mini Rockefeller Center, and the next day he wanted to see Santa Claus. That night, we all went to see the tree, and on the way home, as he was always asking to go to "some people's house" and he really hadn't seen anyone of his relatives (of which he has many), we stopped by my husband's brother's and wife's house, to visit them and their two children. After not getting in the door five minutes, Bobby, being held by his uncle, was taking a sip of soda, and immediately started coughing up blood. (Ironically, this was the same house where he vomited the blood at the birthday party.) However, this time, he could hardly breathe, and appeared to be gagging on the blood. Needless to say, we flew to the hospital in our car, which was about two miles away, and, while in my arms in the car, he died. They worked on him in the Emergency Room, but, after 45 minutes of never getting any response, it was official. He died of a pulmonary hemorrhage, a result of the primary pulmonary hypertension. Needless to say, as sick as he had been, this was totally unexpected, and we were and are devastated.
We had an autopsy done, in the hopes of helping some other children, and a fried of our, who is a medical examiner, interpreted the report for us, and, basically, said that he was a time bomb waiting to go off, and that he must have had little bleeds throughout his lungs, over a very long period of time, and probably the coughing and vomiting for such a long time didn't help. She also said that she had done autopsies on fetuses that miscarried, in her studies, and her feeling was that the Trisomy 16 abnormality was the reason for all of his problems, without question.
On a developmental level, all during this time, he had early intervention, starting at four months old, having teachers, physical therapists, speech therapists, occupational therapists coming to the house. For the most part, he met all his milestones on time. He rolled over at 4 months, sat and crawled a little later due to his heart surgery, walked at 13 months. Then, at 2 1/2 years old, he started going to an early childhood center, for a half day program, and then by 3 was in a full day program from 9 to 3, taking the bus, and loved every minute of it.
Mentally, he was wonderful, quick, had an unbelievable memory. He was somewhat speech delayed, around 2-3 years of age, but, for the most part, caught up, with just a small articulation problem, but nothing major that the average person would notice. He loved to perform and sing on stage, even at 3 and 4 years of age. He was very social, made friends very easily, and was pretty much known as the "Mayor" in school and just about anywhere he went regularly, the doctor's office, the hospital, especially in the Intensive Care Unit. He loved everyone, and had a way of getting under people's skin. Part of it could have been his size, combined with his personality. He appeared so much younger than his age, and then when he started talking, people would always ask, "How old IS he?"
His main problem was mostly physical, not just health-wise. He was very tiny for his age. At age five, he was never more than 25 pounds, which he had been for two years, give or take a pound, and he was only 36 1/2 inches tall. (He was about the size of a 2 to 3-year-old). In most cases, he was a full head shorter than his peers and about half their weight. This obviously posed a problem, especially when it came to playing. First, he didn't have the stamina of most kids, on a playground, and one of my biggest fears was him getting squashed between two kids or just simply bumped by another child.
In June 1996, he graduated from the BOCES Early Childhood Center, to be mainstreamed into a regular Kindergarten class. He was still to receive physical therapy, occupational therapy and speech therapy, and I requested an aide to assigned to him for monitoring him on the playground. The school decided it best to hire a full time aide to be with him both in the classroom and on the playground. This worked out great for the three months that he was there, as he never even knew, nor did any of the other kids know, that she was in the class for him, as she seemed more like a the teacher's assistant, but zero'd in on Bobby's needs, when necessary. I never wanted him to feel different, and, though, to some extent, he knew he had to take rest periods, unlike other kids, and go to the nurse for medicine, unlike other kids, he really took it all in with a grain of salt.
After just three weeks in school, we went to an event at night there, and just about every child, especially older (4th and 5th graders) would walk past him and say "Hi Bobby". Apparently, in such a short time, he made such an impression, even on the kids. This we especially know to be true now because of the many letters we received from students of all ages who were just so touched by him, which makes us feel that may be why his life was so short. I don't think if I live to be 90 I'll touch or have an effect on half as many people as he did in five years.
One of Bobby's favorite things to do, as there were many long periods of time that he couldn't do much as far as physically exerting himself, was to watch tapes, especially ones with songs, which he would sing and dance to. Since he was in a full day preschool BOCES, from 3 years of age, when he would get home from school, he would need that TV time to rest.
Other than all the above, we tried to treat him like as much of a "normal" child as possible. I took him to Florida, at 18 months old. Before his second heart surgery, we took him to Sesame Street Park, which he enjoyed. He LOVED amusement parks, especially the roller coaster. He loved taking the train to New York City, seeing shows or the circus. He even loved to just go shopping for a day, even if he didn't get anything. Unfortunately, our vacations and spending were limited, and due to his health, we didn't want to travel too far. Plus, at four years old, he had used up his lifetime maximum of insurance coverage. So, what we didn't get covered under Medicaid or what was left over from the insurance when he had it, we had to pay ourselves.
Luckily, in May 1997, our family and friends had a benefit for us to help us with our medical bills, and started the Robert Basile, Jr. Foundation. It was very successful, and we succeeded in paying off all the doctor/medical bills, etc.
My biggest wish is to keep my son's name alive and be able to help other children/families that are in a similar situation as we were, through this foundation. At the same time, I would be happy to help anyway I possibly can with The Disorders of Chromosome 16 Foundation, as I do feel that that was the primary reason for all of Bobby's problems.
Thank you for taking the time to read our story, and, again, God Bless all of you and especially your children.