Why do Pat and
Vincent look so much alike?
When people see Vincent in person, or in pictures, they all
say the same comment: “Wow he looks like Pat”. Here is a blog with some of the
reasons. In this blog, there will be some medical information. I am not a
doctor, and the information I will write was given to me by Genetics clinic at
CHEO, the different specialists Vincent sees, his pediatrician, and a document
that was given to us by the Genetics clinic.
When Vincent was in the Montfort Nursery, one of the
pediatrician was worried about Vincent's health, and thought Vincent might have
some syndrome due to some physical traits he noticed. He therefore asked if he
could do a blood test, take pictures of Vincent (face and hands) and send it to
the children's hospital for genetic testing. At the time, Vincent was having a
hard time learning to feed and they wanted to see if there was another reason
why. What caught the pediatrician on call was that Vincent only has one line in
one of his hands (see pictures). After the pediatrician mentioned it, Pat and I
looked at our hands and saw that Pat had the same thing. We only got the
results a few weeks after when Vincent was already home. At one of Vincent's
weight checks in, his pediatrician advised me they got the results of the
genetics test and they had found something. I was really scared when she
mentioned it, as I didn't know what to expect. The pediatrician didn't have
much info as she had never heard of this genetic issue before. She then advised
me that we will be getting a call from the genetics clinic at CHEO for an
appointment with a genetics doctor. The appointment was quickly booked, and I
asked Pat to come with me. I usually do most doctor appointments alone, but
this one I rather not do alone. Let's say, we are both happy Pat went, as it
made the doctor's appointment a lot better (remember he also only has one line
in his hands).
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| Pat's hand |
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| Nat's hand |
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| Vincent's hand |
The genetics appointment happened when Vincent was a few
months old. We went into the clinic, sat down and waited our turn. The doctor
comes in to get us to lead us to the examination room. She seems Pat and
Vincent and goes “WOW”. She said that Vincent and Pat look a lot more alike
than most fathers and child. Once in the room, she was asking Pat questions
like: “did you go to college? Do you have a full-time job? Any health
problems?” Once Pat answered all the questions, and the doctor advised us that
this appointment will be a lot easier than planned. Once we sat down she
explained that Vincent has 22q11.2 duplication. This is a fairly new found
genetic malformation. The only kids that were tested are usually kids that have
other problems. There wasn't much testing down on healthy kids. The doctor
advised we shouldn't be too worried as Pat is doing very well, and she is sure he
has it. I would like to note that he has the DUPLICATION and not the deletion.
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| Picture from google |
22q11.2
duplication
After some research, here is the information that I found
relates to Vincent. The duplication is mostly found near the middle of the
chromosome. This duplication is
genetic. Parents have a 70 percent
chance of giving it to the kids. Most of
the time, the duplication can be silent.
The effects of this duplication are usually health, development and
behaviour. The range goes from mild to
severe. During my research, I came upon
the feature kids with this duplication have. Here is what Vincent has:
Different in heart
structure: Vincent has a heart murmur. He did have to see a cardiologist,
but was released from her care as she believes he will outgrow it. We are
unsure if Pat had this as a child and it simply wasn't caught.
Problem with the root
of his mouth: He has a VERY high palate, and so does Pat.
Hearing Loss:
Vincent is still being tested for this. He has a second hearing test scheduled
for June. During the last test, he had a mild hearing loss of the right side.
We were advised that he has a lot of congestion on that side. Since then, he
did have a very bad ear infection. Note that Pat's hearing was not tested a
child. However, he has had tinnitus for as long as he remembers.
Growth Delay:
Vincent has NO problem with this. However, Pat was short as a kid. Therefore,
it is possible Vincent’s growth will slow down or it may not affect him at all
Developmental Delay:
He has NO problem found so far. No issues were found for Pat.
Learning: Up to
now, Vincent doesn’t have any of these problems.
Trouble feeding when
newborn: Vincent had a lot of problems the first few weeks.
Facial: widely
spaced eyes (like Pat), small lower jaw (like Pat)
Head: He does
have a larger head, much like Pat
Body: Kidney
issues, Vincent does have a kidney issue and sees an urologist. Pat was never
tested, therefore unsure if he had any issue with his kidney’s as a child.
Pregnancy with baby’s
with this duplication:
During the pregnancy, mothers can have gestational diabetes,
early birth (around 36 weeks), pre-eclampsia, little fetal movement and a
little extra amniotic fluid. I had ALL
these and Vincent was born at 35 weeks 6 days due to my health concerns.
I hope this blog, helps explain this duplication. As it’s stated, there is not much information
about this yet. I hope to learn more as
Vincent grows. I am very happy that Vincent is getting all the help
needed. The specialists make sure to
research about this duplication so they help him the best way possible. If you have any questions, don’t hesitate to
message me.
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| Vincent 6 months |
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| Pat 3 months |
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