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Noah
Mosaic
Trisomy 16
I found out the news, which we waited to
hear for 5 years, that I was pregnant on July 6th 2001. I was so excited,
worried, scared and in shock!! But that baby could not have been more
loved, and more wanted, from that day on. We fought for that baby, and
we were going to do everything we could to keep it!
We had the routine AFP test done in the end of September.
I had done it with our first son, and it had come back normal, I expected
nothing less from it this time. Also, figuring that if it came back with
something wrong, they would call before my appointment.?
I went in for my routine appointment - and got
the shocking news. The AFP test had come back with a DOUBLE positive!
A 1:165 chance for Downs Syndrome and a 1:98 chance for Spina Bifida -
how it could come back with both, I don't know, but it did. We decided
to have an amino done to find out for sure what was wrong.... and get
the side benefit of finding out if it was a boy or a girl.
We went in for it on October 16th,
and ended up not getting it because my Doctor was doing an emergency c-section.
So, we ended up having it on the 19th.?? We went in on the 30th, the day
before Halloween, to find out the results. I was scared, but yet I wasn't.
I knew everything was going to be fine, no matter what. We got in there,
and he told us the baby didn't have Downs or SB, but something called
Mosaic Trisomy 16. I didn't expect it, but in a way, it didn't really
shock me either. Then he said "Oh, and by the way, it's a boy!".... I
came home and started doing some homework - and was scared when I found
nothing on it. And then I found the DOC16 site, and my salvation in knowledge!!
It was an interesting pregnancy - with lots of
little things going on. The baby's fluid was low, and the placenta small
and obviously not doing it's job because the baby was very small for it's
gestational age. If it wasn't for the support of my family, friends, doctor
and Karen - I don't know how I would have made it through all the unknowns.
Even though we were asked, there was no way we would "terminate" our pregnancy
with our miracle baby. We heard his heartbeat for the first time when
he was 6 1/2 weeks - he was so beautiful on the ultrasounds - and he even
waved and smiled at us on the ultrasounds. And everytime he kicked, it
was a reminder, "Hey, I'm here! I'm ok!!"
On January 28th I went in for a NST (non-stress
test) and my blood pressure was up. I was having contractions, and the
baby had a heart deceleration. I was told to take it very easy and to
come back the following morning for another one. So, on the 29th, I dropped
my son, Calahan, off at school and then headed to the DRs. I thought it
would be the same as the day before - my 1/2 hour to hour appointment
taking another 3 hours. I never expected what happened... my blood pressure
was very high, and our baby had A LOT of heart decelerations. My DR sent
me straight to the hospital after giving me the first shot to help mature
the baby's lungs. I was very scared, but hoping to go home.
But I never did. I spent the rest of the week in
the hospital, on the fetal monitor 24 hours a day, getting my blood pressure
checked very often, and watching the baby's heartbeat drop again and again.
I had developed Pre-eclampsia quickly, the baby was having more heart
decelerations, and there were a lot of other little red flags going up
- stressing it was time to get him out, before something happened. The
last straw was the amino done on the 31st of January, when the fluid had
come out a pale yellow, instead of clear.?
The morning of February 1st, my Doctor told me that
he was no longer giving me the choice of staying or going to the high
risk hospital 2 hours away, with the much better NICU - I was going. I
wouldn't deliver that day - they would probably do more tests, including
another amino.??
I arrived in Marshfield sometime before noon. Whisked
away into Labor and Delivery, and then set up on the monitor, given an
ultrasound and they took blood. Then the team of Doctors came in, and
told us. "We are going to deliver you TODAY!"
Noah Alexander was born at 3:45pm on February 1st,
2002. He came in weighing 1 lb 12.2 oz and was 13 3/4 inches long. My
pregnancy had ended at 33 weeks, he was 7 weeks early. We didn't even
know he was out - they didn't even let him attempt to cry. And we didn't
see him until hours later. But everyone came in, telling us how beautiful
he was. All I wanted, was to hear him cry!
Noah spent 6 1/2 weeks in the NICU in Marshfield,
WI. Mom spent that amount of time at the Ronald McDonald House. I can't
praise both enough. Even though we had good and bad days, hard and easy
ones, it ended up turning into home away from home.?
Noah started breathing on his own at 36 hours old,
and I heard him cry that day. He had/has minor problems - but no one knows
if they are because of the MT16 or if they are because he was a preemie.
He has a heart murmur, 2 holes in his upper chambers, and 1 in the lower.
He has an umbilical and groin hernia. He had an enlarged right Kidney.
He has a condition called a hypospadious - where the urethra is on the
underside of his penis and not the tip. He also has a "natural circumcision."
He had a little excess fluid on his brain, but nothing that was causing
damage and we were later told that it was a "variation of normal." His
eyesight is really good, except that his left pupil is egg shaped (currently)
instead of round. We were told this would probably fix itself in time.
His hearing is questionable, he passed on the right, but not on the left.
We are still, currently going through testing on that. Most of the times
I would only hear the DR tell me, for report in the morning, "Well, we're
just waiting for him to grow!" They did testing on his placenta, and blood
after he was born. The placenta contained 100% MT16, and the blood contained
0%. We are still waiting on his skin graph.
Despite all those little things, he is so beautiful
and wonderful, and I thank God everyday for my perfect little baby! He
came home on March 18th, the day after his St. Patrick's Day due date.
He came home weighing 3 lbs 10 oz. He ended up back in the NICU for 5
days due to a cold. But we are back home now, and he is doing wonderfully!!
He's growing everyday, thankfully, and he's being closely watched. Currently
(4-4-02) he is 4 lbs 6 oz. And just barely fitting into preemie clothes.
I have high hopes for his future, and him.?
Thank you for reading our story, as it is,
so far.
Update
November 2003
It's been about a year and a half since Noah's
story left off. He's now 21 months, 17lbs 8oz and just shy of
30 inches. He's
had trouble
gaining/maintaining weight. But regardless, he keeps moving up in
diaper and clothes sizes so something must be happening!

Medically
he's doing amazingly well. He still has his heart murmur, although
sometimes faint or hard to catch, he's being re-checked in a little
over a year. His cardiologist was giving him until he was 3 for
it to close up, and if not we may have to discuss surgery. His
umbilical
hernia he had healed on it's own. The groin hernia he had repaired
in July of 2002, and he not only had it on one side, but both sides.
He healed wonderfully from that. His Hypospadious was repaired
in March of 2003, which also went well, and he healed fine from
with
no complications. He has an extra little dimple at the top of his
behind, and they've seemed to always be concerned about that. First
they had mentioned a form of Spina Bifida, and then ruled that
out, and the newest thing was they thought the end of the spinal
cord
was wrapped around his pelvis in some way.
Neurologically he's still
having some issues. He still seems to have some problems that were
present at birth, but nothing really that they are concerned about.
Except they believed, since the back of his head is flat, and he
was born like that, that he may have had some premature fusing
of the sutures in his skull. So he had to go through MRIs, CT scans
and Ultrasounds. So they checked his skull and his spine with those,
and found out his spine is fine. His skull is starting to fuse
together
in the front (forehead area) but not the back. They don't seem
to be overly concerned about this, but want to keep a close eye
on him.
Hearing we still aren't sure on, but we know he hears fine, and
he's talking so we assume there isn't anything wrong. He did have
a lot
of fluid build up, and small ear canals until recently and that
may have something to do with the numerous failed tests he had.
He only
had one he passed, and he was put out completely for that one.
Now his ears have cleared up and he hasn't gotten an ear infection
for
6 months (he was getting them every other month and was on the
verge of tubes), so we'll see when he goes back for yet another
hearing
test. We did get his skin graph back, from the MT16 testing, and
it had 3 out of 30 cells with the extra 3ed chromosome. Not that
anyone knows what this means, but it is what it is. The amino was
3 out of 10 cells it was present in, I believe. The placenta was
100% MT16 and the Cord Blood was 0.
Now beyond the medical things, he's a smart spunky little boy
with an attitude to boot, despite his small size! He's just
begun to
walk 4 weeks ago, and he's got a vocabulary of around 30 words!
He finally
got 4 teeth since July and is finally starting to eat better.
We had problems in the eating area, and continue to, but they
aren't
as bad. (Gagging Reflex mostly) He has been getting physical
therapy for a little over a year now and started Speech Therapy
early this
year, and thrives in both. His Physical Therapist calls him the
highlight of her week! Everyone is so amazed by this little boy
who is so endearing
and precious, that not many in the medical community would have
thought would be was advanced and wonderfully healthy (not to
mention alive)
as he is! I can just look at him, still, and be amazed to tears
by him! It started out as a scary journey, but has been a blessing
of
a miracle who has touched many people. Things might not be easy
at times, and hurdles maybe high, but in the end - it was ALL
worth it!
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Update January 2005

Noah is now almost 3 years
old (in only 2 weeks) and is doing very very well! He is about
23 lbs and 34 inches at 35 months. He has gone through a lot
this past year, even though it has been a relatively quite year.
He's had a lot of testing done due to the neurological questions
(still basically the same questions as before), and his vomiting
issues. He vomits during the day if the taste or texture of a
food doesn't agree with him, or if he starts crying very hard
around the time of his eating, which we basically associate with
his oral sensitivity issues. The time we can't seem to figure
out, that he's going through the testing for, is when he wakes
up 2 hours after he falls asleep and vomits. After he gets it
out - and everything is cleaned up - he falls right back to sleep.
We've recently discovered - the past few weeks - that Noah usually
has an asthma attack after the vomiting, so he is back on the
nebulizer treatments. It use to happen a few times a week, and
now happens maybe twice a month. Testing hasn't revealed anything
concrete at this point in time. Hearing - he still has issues,
although he is now passing tests. They are thinking he's got
some hearing loss on his left side, specifically 2 tones, one
high and one low - not really in the range of everyday life.

He is walking, running, trying to
jump - and coming very close to an actual jump, he goes up
and down stairs, he cannot open doors but he's almost there…he's
even done summersaults on a few occasions. He's a normal, typical
2 year old. He's been in Physical Therapy for over 2 1/2 years,
Speech Therapy for 2 years, and Occupational Therapy for about
7 months or so. He's doing so well in all of them, he may not
qualify for Early Special Needs Education, which is wonderful
news - but we want him to get all the help he can. His speech
is our main concern at the moment. When he talks, it's still
pretty mumbled - words blended into one another, or just plain
baby gibberish. Mom and Dad, and people who deal with him on
an overall frequent basis can understand him 75% of the time,
otherwise you need an interpreter. He will be starting Headstart
in the fall of 2005 if he gets in Early Education or not around
his third birthday.
Overall he is doing so amazingly
well!! He's healthy, he's happy, he's an INTELLIGENT little
boy!! His big word of the last few months is Dinosaur! He also
says his pleases and thank you, and he has a very very large
vocabulary! He'll let you know if he is bored and wants to
do something else! He loves his toys (Little People mostly)
and his friend (Blues Clues, Elmo, Dora & Boots,
Pooh Bear, Scooby Doo, and several others!) His newest obsession
is Spider Man, or Peter Parker as he says! He loves reading with
Mommy, and playing games on the computer! He likes to color and
play outside on his big swing set! He loves to do it all! If
his size is any sort of hindrance, he asks for help! He's determined
to find a way to do what his 9 year old brother is doing! He
is stubborn and temperamental - but if he wasn't, he wouldn't
be doing so well - so we cannot fault him for it. Almost 3 years
after his birth, and he is still as big of a miracle as he was
the day he was born, and before!
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With great sadness, Bobby passed 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. Karen Lange, President
DOC16 |


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Bobby
Mosaic Trisomy 16
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.
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