COUSIN's Corner
Page "Feature(f)" (rev: 10/14/2005)
This Page has been created for feature stories about members of our family.
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Our Story
Vincent & Joseph Porcelli
10/25/2003
November 2003 =====================================================================================
I'm spreading the news regarding our two new additions to the Porcelli Family! On October 25th,
Joseph Anthony (weighing 3lbs 6oz & 16 ½ Inches tall) and Vincent Michael (coming in at 3lbs 9oz &
15 Ύ Inches tall) were born. They decided to join our world 10 weeks early. At this time, both
Joseph and Vincent are doing fairly well considering their pre-maturity. They are in St. John's
hospital's Neonatal Intensive Care Unit (NICU) right now and we're hoping to have them home by Christmas.
Some of you may have known about us being aware that something could be wrong with one of the babies.
He was Baby "A" when in my stomach, Porcelli Baby "1" when he was born, and now named "Joseph") If not,
the next few paragraphs explain findings during my pregnancy, or you can skip down to "Aperts Syndrome"
that describes what Joseph has.
IRREGULARITIES DURING PREGNANCY
When I was about 16 wks pregnant, an Ultrasound in my doctor's office showed some possible
abnormalities with Joseph. His hands seemed to stay in a "C" like cupped position, his feet both
appeared "Club" or "Extended", and his forehead measurements didn't match normally in size for the
rest of his skull.
Doc Branson (my OB) sent me to the Perinatal Center at St. Johns where I met with a Genetic
Counselor and started seeing Dr. Vlastos, a specialist in pre-natal chromosomal irregularities.
Apparently, the abnormalties were possible signs of some chromosomal disorders. The genetic counselor
went over these disorders with me and gave me the low-down on having an amniocentesis. For those of
you who know me well are aware of my tremendous dislike of needles! And then, there is also a risk of
labor on-set which can result in miscarriage when having an amnio. So, I originally decided against
having it, but continued to see Dr Vlastos and having the more extensive ultrasounds done in his office
in hopes that something in these ultrasounds would give us the information needed in determining what,
if anything, could be wrong with Joey.
Dr Vlastos seemed to think that Joey could have one of the "Trisomies." There are many different
Trisomy chromosomal disorders, but the two Dr Vlastos was looking at are the 13 & 18. (13 for the 13th
chromosome and 18 for the 18th chromosome) Human cells have 46 chromosomes which should pair off to 23.
When the cell splits, sometimes an extra chromosome comes over in a pair which leaves one pair with 22
chromosomes and the other with 24. If one of these abnormal cells are present in the egg or sperm during
fertilization an abnormality or syndrome could result. Depending on what chromosome it is and if it's an
extra or lacking, will determine the abnormality. (Please don''t quote me on this!)
If Joseph had one of these Trisomy disorders, there was a chance he wouldn't live through birth.
In this situation, it was something Dave and I wanted to mentally prepare for. So finally, at about
26 weeks, I decided to go through with the amnio. Actually I had to have 2 amnios, one for each baby!
The results came back showing no irregularities - No chromosomal disorders tested positive (that is,
none tested positive out of the disorders tested in the amniocentesis). So, we were relieved with
these results, but we still were concerned with the irregularities. Dr Vlastos wanted me to start
seeing another Doctor who specialized genetic abnormalities. But we decided against this. We felt
that we would deal with whatever might be wrong with him when he was born. God had already determined
his outcome.
APERTS SYNDROME
Joseph was born with a genetic defect called "Aperts Syndrome." This is a very rare syndrome
that occurs in less than 1 of 60,000 births. In looking at information on the internet, some articles
say Aperts occur in 1 of 60,000 where others go up to 1 in 200,000. Basically, Aperts involves
abnormal growth of the skull & face and also fusion of the fingers and toes. Joey has his thumb
out on both hands, but all of his fingers are under one piece of skin. The same with his feet. His
head & face are longer than normal & his facial features appear irregular.
They are not certain how this syndrome occurs, but believe the genes were normal from the mother
and father but sometime after they were passed on to the fetus, a mutation occurred with the 10th
chromosome.
Dave and I are meeting with a plastic surgeon on this Saturday to get more information on what
the plan is for Joseph over these next few years. In reading articles from the internet, it says kids
with Aperts may need over 25 surgeries during their lifetime. A majority of the surgeries done within
the first two years of their life, and the last surgery in their early twenties. The most critical
surgeries involve the face & skull. The portion of the skull over his forehead is fused together.
Normally, this does not happen until people are in their twenties, allowing the brain to grow with
the person. But in Joey's case, surgery will need to be done to expand the skull in order to relieve
the pressure and allow his brain to grow as it should. Until we meet with more doctors, I can't give
more specifics for Joseph's case. But there is a lot of information on the Internet regarding
Aperts if you're interested.
GOING FORWARD
Right now, Dave and I are taking one day at a time to get through the premature stages & obstacles
of the Babes. When we get over these hurdles, we hope to do the same to get through Joseph's future
struggles. We are very fortunate to have them both with us thus far.
In the meantime, we will gladly accept any prayers you can offer for our blessed boys.
December 2003 =====================================================================================
GOOD NEWS!
VINCENT IS HOME! As of last Sunday November 30th - Way ahead of original plan! And is doing
very, very well! He really loves being here! He's on a heart Monitor for the time being (for about
another month), which is a bit of a hassle, but definitely worth having him here with us!
JOSEPH will be in the hospital for at least a couple of more weeks. Joseph continues to have some
problems with his breathing - in particularly through his nose. Due to the Aperts Syndrome that accompanies
him, he has a narrower nasal passageway than the average person - resulting in losses of breath and
sometimes reductions in his heart beat.
A couple of days ago he was taken off oxygen and all breathing assistance he has done real well
since, however, this has not been the first attempt Let's hope it's the last!
As the next week or two go by, his breathing as well as the growth & clearance of his passageway, will
be watched closely and will determine if he can start taking a bottle (vs. his feeding tube), and
basically let us know if he will need additional support in this area prior to coming home. If this is
needed, most likely a tracheotomy will be conducted, but other options are possible as well.
Joseph also has a low red blood cell count. This is due to his immature bone marrow (quote from doctor).
He will be getting a blood transfusion next week. Family (blood relatives with a compatible blood type)
is donating blood for him. Joseph's first main surgery will be on his skull and take place when he is
between the ages of 3-6 months after his due date. Currently, Joseph is in isolation for a Staph infection.
He has been in isolation for the last 3 weeks - along with his brother Vinny (until Vinny he came home).
If the next two cultures they do on Joseph come out negative, he will go back to the "NICU" (Neonatal
Intensive Care) for the remainder of his stay.
For those of you in the medical field, Joseph's main doctors for his surgeries are Jeffrey Marsh and
Rob Hagan they are supposedly very well known and praised nation wide. Perhaps you heard of one or both
of them if so, feedback is appreciated!
Joseph's come-home-date has not been determined. We're still hoping for Christmas - this would be a
small miracle, but something to pray for. Despite all of the "obstacles" going on with Joseph right now,
he is doing excellent. He is a very alert & happy baby he is, and will continue to make us proud.
Thank you so much for your prayers and kind responses. Merry Christmas to All
Happy New Year
And that it is! Joseph came home from the hospital yesterday! (12/30/03) Wait to you see these pictures!
As of today, Joseph weighs 6 lbs 13 oz and Vincent weighs 6 lbs 11 oz.
It's quite crazy at the Porcelli household right now - and probably will be for the next couple of days.
Joseph is a bit fussy and is not eating real well - it will take a while for him to adjust to his new
surroundings. We went through this when Vincent came home too so were not real alarmed, just tired!
Thanks so much for all of your support, gifts, dinners and kind responses. I'm a bit behind on sending
out Thank You cards, but it's on my list!
I hope you all have a safe and wonderful New Year! God Bless
January 2004 ======================================================================================
Here's the latest on "The Boys".....
They're both doing wonderful! It took Joseph a couple of weeks to into the home grove, but he is now
more than comfortable and is enjoying it immensely!
Last time the boys were weighed was January 16th. Joseph weighed 7 lbs 2 oz, and Vincent topped the
scale at 7 lbs 14 oz! That's almost Eight Pounds folks! (Not that you didn't know that, but Eight pounds
was pretty exciting over here!) Joseph lost some weight the first couple of weeks. In this period, he
wouldn't eat more than a ½ an oz at a time (he should've been eating 2 ½ - 3 oz) and was quite the fuss-
bucket. Sleeping was a thing of the past at that point! We took him to the Doctor twice the first week for
this and he said everything looked fine
he's just adjusting
..blah blah blah - We knew it had to be
more that. We changed his formula to Nutramigen (this is what Nicholas had to take too), and he immediately
started eating like a champ - and started putting the weight back on and sleep became a nightly routine
again, at least a few hours here and there! Bad part is the Nutramigen cost twice as much - but we decided
he was worth it (ha-ha)!
The boys are staying awake more often now. Vincent is a pretty content baby Easy going and easy to
please- most of the time. He likes watching Nicholas goof off; his Dad's just as silly! He enjoys laying on
his play-mat that has toys dangling down he gets excited when he swats at the toys causing them to move
and make noise. He likes spending time in the swing, especially the "Aquarium Cradle Swing." Our friend Laura,
who lent us the swing, refers to it as the "Cadillac of Baby Swings!" For those of you Mothers-to-be -- It's a
Must-Have!
Vincent puts his hands on his bottle when eating; I think feeding himself is right around the corner!
This will come in handy, because both Joseph and Vincent most always want to eat at the same time. It looks
like Vinny is going to be our blue-eyed boy.
Joseph, on the other hand, will be our "higher maintenance" boy! He likes to be held, pretty much all
the time, and mostly only by me! He usually whines when Dave or Sissy holds him so they hand him off to me,
and he quiets -this will have to change! He doesn't like the swings or the play-mat and offers no assistance
with his bottle! But all of that is forgotten when I hold him and he stares into my eyes and I can see and feel
how much he loves and depends on me. Joseph also requires eye & nose drops daily, but has an opening on the top
of his mouth leading to his nose. So when I give him his nose drops, they get into his mouth, and often make him
gag and throw up. HANG IN THERE BUDDY!
Dave and I met with the Plastic Surgeons (Drs. Marsh & Hagan) last Friday regarding Joseph's first surgeries.
It looks like he will have his first surgery on his skull at the beginning of April and his first hand surgery
in June.
In the next 4 years, Joseph will have at least 6 major surgeries on his face & skull and another 3 on his
hands. The 1st skull surgery will be on the top portion of his head (eyes and above), the next will be on the
mid-section of his face (his nose to eyes) and the 3rd will be from the chin to nose, including his jaw, which
will take an additional 3 surgeries.
Joseph also has a hernia - we''ll be meeting with another surgeon tomorrow. His name is Dr. Martin Bell.
Dr Bell will determine if the hernia surgery is urgent-requiring surgery right away or if it can wait until
mid-June, and be done during his first hand surgery. We don't want to combine this hernia surgery with his first
skull surgery because the skull surgery will take about 12 hours, resulting in being under anesthesia too long.
FIRST SURGERY
When we are born, the front/sides portion (plates) of our skull should be separated about a quarter of an
inch. As we reach our twenties, these plates grow together. But this part of Joseph''s skull has no split it
has prematurely fused together - leaving no room for the brain to grow and causing increased pressure on the
brain. This will be separated during the first skull surgery. The "Orbit" behind the eye sockets is too small in
an Aperts child. So the eyeballs do not fit snug in this area resulting in their eyes to appear bulging. This
also prevents their eyes from closing all the way. (Joseph sleeps with one or both eyes opened slightly). There
are so many nerves in this area (behind the eyes); it could cause brain damage to adjust. So what the plastic
surgeons will do is build the brow area up instead. This will be done during the first skull surgery
The portion of our skull that begins at our nose, and extends through middle back portion of our skull
should be separated about a fourth of an inch with a quarter size hole in the back center portion (the soft spot)
when we''re born. But Joseph, as all Aperts children, has a very wide separation in his skull for this area -
like 5 times what it should be. This will be adjusted in the first skull surgery.
There will be many pins and screws put in Joseph skull, but they are all biodegradable. Portions of this
surgery will have to be repeated a couple of times as he grows.
I will give more details regarding his other face & skull, as well as his hands and feet on a later date.
Nikko and Heather
Heather is now 5'8½" tall! Can you believe it? She starts ROTC (military) School this Friday. This is at
the old Cleveland High School. A bus will pick her up and drop her off everyday. She will have to wear a uniform
(from the U.S. Navy) every day. They have strict policies on make-up, hair, coats, book bags, and even jewelry.
I think Heather will be "Waking Up" real soon! She does appear to be kind of looking forward to it. I honestly
think she will end up liking this school and am hoping it brings out more of Heather''s talents and potentials.
Nicholas, "Nikko," is 3½ now And a solid 56 pounds! He's very much into hockey right now - switching from
baseball last summer. He's got quite the sense of humor but still enjoys the hugs and kisses. He goes to
pre-school two afternoons a week and really enjoys it. He loves to wrestle and occasionally believes he''s "The
Hulk!"
Thanks again to everyone for your prayers and support.
