www.22q.

org

Life with 22Q

Welcome

From our heart to yours, "Life with 22Q" is reaching out to you
through our new adult 22Q e-newletter. This e-newsletter is
written by and for adults with 22Q and their families. Giving a
place for adults with 22Q to share real life aspirations and
give inspiration for living life.

We hope that developing a venue for adult persons with 22Q will
encourage us to share experiences, show caring, get information,
post events, ask questions and stay connected. Thank you all for
contributing to our first edition. If you would like to contribute or
have suggestions, please email Rebecca
at http://www.raredisorders@yahoo.com

Wishing you all a happy Valentine's day!!

Rebecca and Chris , Editors

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1.1 Learning about 22q11.2

1. A Family Learns About 22q11.2 The Tucker Family
2. A Mom Loses Her Son to 22q11.2 Linda & Jayden
3. A Single Mom Copes With Her Sons Diagnosis about 22q11.2 Heather & Brendan

1.2 Accomplishments
1. Stephanie Jones Accomplishments
2. Michelle Padilla Accomplishments

1.2.1.1 22q and Rare Genetics

1. The Same Name Campaign www.22q.org

1.2.1.2 Events
1. The No Show Valentines Ball
www.22q.org
2. 22Q AT THE ZOO www.22q.org

1.2.1.3 Questions Corner www.22q.org

1.2.1.3.1 Contact Info

1. The 22q International Foundation
2. www.22q.org

22q11.2 22 Q And Rare And Genetic Support Group

KNOWLEDGE And Newsletter.
IS HOPE RARE AND For Support And Awareness for
GENETIC DISORDERS 22q11.2 And Rare And Genetic Disorders.
www.22q.org
www.22q.org
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Tiny Little Hero A Family Learns About 22Q11.2

Our tiny little hero is small, but she is the strongest person we know.
The year of 2012 was a crazy busy year for our family. More like a
bad dream that we wish we could forget altogether but little did we
know it would be a precursor to events that would forever change
our family.
We had something major happen in almost every month of that
year. A few examples are: my husband and I both had to have
emergency appendectomies within 6 months of each other, my mom
suffered a heart attack and mini stroke, my twin sister got married,
we had major car troubles which left us with a small rental car for
over a month, one of our other children broke his arm, another one
of our children busted his eyebrow open, a grandparent passed
away, a tonsillectomy for our youngest and many other things
throughout the year. It was a rough year for us emotionally,
physically, spiritually and financially. I felt as though God were
putting us through the rain so to speak. I didn't understand why
these things were happening and often cried out to Him.
My husband and I had decided that our family was complete, so we
made plans that year to ensure that we would not have any more
children. Little did we know that God had bigger plans for our family
when we found out we were unexpectedly expecting our fifth child.
To say we were surprised was an understatement. We weren't sure
how the news of us having a fifth child would be taken because of
the stigma of large families but we were excited and nervous at the
same time. It was not our plan and we often joked that God
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definitely had a sense of humor reminding us, in a huge way, who

was in control. So we trusted Him with this new little life.
Our oldest child is a girl and after her came three boys. I always
wanted another girl but felt like it wasn't God's plan for us after
having three boys in a row, so I was at peace with that. When it was
time for our ultrasound, my husband decided he wanted to keep the
results a secret because he wanted to surprise me. He went to our
local Target store and bought several baby items and put them in a
plain gift bag. As I opened the bag, I pulled out baby items that were
pink and I was ecstatic!! I could not believe it. God had heard my
prayers for a little girl. We thanked God for this new little life and
prayed she would be healthy.
Overall, my pregnancy was a good one except for the dreaded
gestational diabetes which I had with all four of the other
pregnancies. So, by that time, I was a pro at administering my own
insulin and checking my sugar four times a day. Being pregnant and
going through all that we went through that year was exhausting
but I can look back and see how God was there with us through
every circumstance that year. I believe He was teaching us to trust
Him in all of those trials because our biggest trial was yet to be
revealed.
It came time for our little surprise to be born. We arrived at the
hospital and I was hooked up to start the induction. All was going
well when my epidural was administered. Something wasn't right
though. After some time passed I could still feel the left side of my
stomach. I told the nurse so they upped the dosage and started
flipping me from side to side to get the epidural to work on that
side. After a little while my nurse came in to check me to see if I had
dilated anymore. Her face become so serious and she pushed a
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button and then immediately about ten nurses flew into the room.
We had no idea what was going on. She asked another nurse to
check me to see if what she was feeling was correct and that nurse
agreed. Within a minute my doctor rushed in and explained that our
baby had a prolapsed chord which was cutting off her oxygen supply
and they were taking me for an emergency c-section at that very
moment. I told them I could still feel my left side. Everything was
happening so fast. They started to cut me and I started screaming
that I could feel them cutting. The next thing I knew I was in a
different world and when I woke up, our baby had been born. I had
missed it. We were told she had a sacral dimple but other than that
she appeared to be healthy and happy. Marlee Kate was born a few
days before Christmas and was our Christmas gift that year. Her birth
was extremely traumatic for me and as a friend joked....it only made
sense that the year would end so dramatically. We were never more
happy to see the year 2012 come to an end.
When Marlee turned three months old, I mentioned to her
pediatrician that she didn't seem to be doing the same things that
our other children had done at three months. He too noted her lack
of muscle tone, not gaining weight, feeding problems and other
issues. He referred us to a neurologist at Children's Hospital for
some additional testing.
The neurologist also noted the issues Marlee was having and first
tested her for Spinal Muscular Atrophy (SMA). Waiting for those
results was the worst week of our life. Children who are diagnosed
with SMA don't typically live to see their first birthday. We had
thoughts that no parent should ever have to think about. It was
rough. Thankfully, the results were negative so our next step would
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be for Marlee to have a MRI. Everything came back normal from the
MRI so he told us the next step would be chromosomal testing.
When Marlee was six months old, our neurologist called to tell us
that the testing had revealed abnormalities in two chromosomes.
The test could not tell us what the first abnormality was because
there wasn't enough data. The second abnormality showed a
deletion in her 22 chromosome which meant that Marlee had
DiGeorge Syndrome, also known as VCFS or most recently named,
22q11.2 Deletion Syndrome. There are over 180 symptoms
associated with 22q and after doing a lot of research, everything that
Marlee was dealing with suddenly made a lot of sense. The next
year and a half would be filled with many, many specialists and
doctors appointments, physical and occupational therapy
appointments, several surgeries, MRI's, EKG's, sleep studies, swallow
studies, special services through our local ARC agency and the many
other tests. She has been poked and prodded more times than we
can count but she has been brave through it all. We feel very
fortunate that our pediatrician listened to our concerns in those early
months and made sure Marlee was referred to the best doctors. We
pray that 22q testing would be made part of the newborn screening
process because if we had known from the beginning what all
Marlee would deal with, we could have gotten her earlier testing,
earlier special services and therapies and we wouldn't have felt so
hopeless when we didn't understand the underlying cause.
Our sweet baby girl is now four years old and doing relatively well.
She has some developmental delays along with speech and hearing
problems associated with a sub mucous cleft palate but considering
what other 22q children are going through, her issues are a blessing.
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She is currently in speech therapy and we see her team of specialists

twice a year for evaluations and testing. They labeled Marlee as
"failure to thrive" and as much as that hurt to hear, our God is bigger
than any label she could have been given. She has worked hard and
come so far. God has been with us every step of the way.
We don't know what Marlee's future will hold medically, but we do
know who holds her future. Each day with her is a blessing. She
definitely keeps us laughing and on our toes.
I firmly believe that the many trials we faced in 2012 was God
preparing us for all we would go through with Marlee. Her precious
life has a specific purpose and plan. We look at her diagnosis as a
blessing. It has made us more compassionate to those that deal with
special needs. It has made us realize that we are just a small part of
Gods plan in this great big world. She has been the biggest blessing
to our family and we would not be complete without her in it. Our
faith in God gives us hope. Hope for her life, hope for her future and
hope for all the dreams we have for her. If her story could bring
even a small glimmer of hope to those facing a giant of their own,
then her story is worth sharing.
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THE TUCKER FAMILY

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MARLEE TUCKER
The Tuckers Are From Alabama
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AN ANGELS EYES

This is about myself. My name is Linda Barrett and Im 29 years old.

I recently lost my son. So if you are ready, this is a little view into my
life. Imagine being 18 and finding out you were pregnant. Now imagine
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knowing from the beginning of your pregnancy that your child had heart
problems and a club foot. The doctors gave you a choice and explained
the situation. You had a choice, what would you make? If you did not
know how severe your childs complications would be until their birth,
would this make your choice for life any different? This was reality for
me and I choose to have my baby. Me pregnancy had a lot of
complications and Jayden Lee was born on June 10th 2005, two months
before his due date. Jayden spent the majority of a month and a half at
Penn State Childrens Hospital NICU. When he was two weeks old he was
diagnosed with Digeorge Syndrome and failure to thrive. I was told he
wouldnt live to his first birthday. No being a parent, young or old, how
would you handle those words straight from the doctors mouth? That
the child I just gave birth to who I already loved would go to heaven
before he even turned one again, I dealt with this not knowing how long
my baby would live. I picked myself up and dealt with everything at
once. Alone and scared I always struggled for my son on a daily basis.
Jayden made it to his first, second, and third birthday. On June 10 2009
we celebrated his fourth birthday. A miracle in itself we believe one of
Gods miracles. Jayden has many complications due to his disorder.
He had heart problems as well as being nonverbal. He was revived and
I was told if he needed to be again, he would remain in a vegetative
state. Jayden had a very small immune system which was part of his
syndrome and he had to get treatments once a week to help him. Until
one day, his body started to deny them. He uses a feeding tube to eat.
These are just a few things I deal with on a daily basis. Jayden Lee
had something wrong with every part of his body and we see a doctor
for each one of them. His seizures and breathing was the hardest for
him, He struggled a lot with the, Jayden, however, can smile, roll
over, and express emotions very well. He can control the left side of
his body and is able to hold and play with certain toys. He loves to
laugh and it could turn any ones day around. Jayden love the
Backyardigaians, and Curious George. He liked to flirt and play with
long hair. He could always tell who certain people were and loves
playing with others. Jayden loves many, but he loves me, His mommy.
I never heard I love you and I never would, but I know He loved me
by the way he would smile at me. Due to his disorder and many
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hospital stays and visits I couldnt word. Jayden needed around the
clock care, and I did it own my own. My son Jayden beat many odds
many times. He is my fighter. From December of 2014, he started
going downhill. He wasnt himself most of the time. We spent more
times in the hospital with him. He developed aspiration pneumonia,
upper airway infections, and his secretions had gotten so bad that he
needed more oxygen and suctioning daily. Even though he was going
through this and a lot more, he still fought until the end. We just had
his 10th birthday, which he had so much fun because he got to through
the first pitch for the Barnstormers game. After that, my baby started
going downhill again. On June 25th was the last time my son was ever
at home. On June 26th, was the last time I got to see my babys
beautiful brown eyes. As they ended up putting him on a vent, he still
fought, He kept fighting until July 10th 2015 my baby passed away in
my arms. As he took his last breath and my tears fell on his face I
knew he was finally tired of fighting for so long. So, please I ask to
hold your love ones and your children, because you never know how
long they will be here.

KNOWLEDGE IS HOPE
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IN MEMORY OF JAYDEN LEE GONZALEZ

Linda is From Pennsylvania

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KNOWLEDGE IS HOPE 22Q

A SINGLE MOM COPES

Heather and Brendan are from Alabama

KNOWLEDGE IS HOPE
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A SINGLE MOM COPES

THE JOURNEY OF A MOTHER WITH
A SON WHO HAS 22Q11.2 DELETION/
DIGEORGE/VCFS
My pregnancy came as a total shock. But what was even
more shocking being the fact that an issue was found in
an ultrasound during the pregnancy. It was discovered
that my son, Brendan had a condition known as hydro
nephrosis. The condition was monitored throughout the
rest of the pregnancy. But there was no improvement.
Brendan was born at 41 weeks. He weighed 6lbs and 14
ounces. He was beautiful. I chose to breastfeed him,
but he wouldnt latch and had no suck. It was a nurse
while we were still in the hospital that realized there
was something more wrong with my son. She told me
that my son also had what professionals in the medical
field called funny face. She asked if Brendan could be
tested for Digeorge Syndrome. I agreed, and so he was.
We were already home and Brendan was 2 weeks of age
when we got the results that Brendan has the syndrome.
I had never heard of this before his diagnosis.
But here we were, mother and son to face the unknown
and what challenges would come. We learned shortly
after his diagnosis that he also had a heart murmur
which lead him to see a Cardiologist. We learned that
he also had a heart condition known as VSD.
Ventricular septal defect (VSD): A hole in the septum (the wall) between the lower chambers of the heart (the
ventricles).
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Talk about scary times. I became a single mother to

Brendan when he was a couple of months old. He was a
very sick baby. He wound up with RSV in the winter of
2013 and again in 2014. It was discovered that Brendan
has low t cells which causes his immune system to be
weak. Brendan also has asthma, allergies, sleep
myoclonus, obstructive sleep apnea, developmental
delay, hypermobility, double jointed, differently shaped
ears, acid reflux, sub mucous cleft palate, feeding
difficulties, malabsorption syndrome, at risk for
aspiration, a feeding tube, and we are waiting for his
SMOS for his feet. Brendan was discharged from his
Cardiologist. His VSD miraculously healed on its own
without surgery. His hydro nephrosis healed itself .
But, he is unable to be discharged form nephrology. She
has to follow him from here on out to make sure the
hydro nephrosis hasnt damaged his kidney or causes
high blood pressure.
Because of my son. I have seen His healing in Brendan.
Being a single mother to a special needs child has its
Challenges. But thats where the beauty comes from,
because we overcome. Brendan Gandy is my 22Q
Warrior.
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BRENDAN
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KNOWLEDGE IS HOPE 22Q

ACCOMPLISHMENTS
LIVING LIFE WITH 22Q
My name is Stephanie Jones and I am 29 years old. I
have been married with my husband now for nearly 2
years now and been with him for 4 years. His name is
Michael. I also have a little boy who is 4 years old. His
name is Riley. The reason why I want to share you this
story because I have Digeorge Syndrome or 22q11.2. I
am the only one in my family that has 22q. I am very
lucky that my son doesnt have 22q, because of all the
risk that it involves. I was diagnosed with Digeorge
Syndrome when I was about 16. Digeorge Syndrome is a
rare genetic disorder. I have had ear, nose and throat
problems since birth, and had 16 operations all together
on my ear, nose and throat. I just recently had an
operation on my ear to stop the ear infections that
occur every 3 weeks. I have been in and out of the
hospital every month. They want me to have another
operation in my left ear, at the end of February to
Repair the hole in the ear drum. I am also deaf in my
right ear and been causing problems with my hearing in
my left ear because of my perforated eardrum.
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When I was 16, I was an emotional wreck, that it made

my life turned upside down. But, I am glad now because
it has made so much sense out of it. It is a bit like a
puzzle, once you put the puzzles together, it completely
makes sense. I had two operations on my nose and my
throat. That was the scariest operation that I ever had
to do. I have a blockage in the right side of my nose
caused by a septum which I only found out what caused
it this year. I struggle with my breathing and sometimes
have to be monitored, and with a breathing tube to help
me with my breathing. I also got a soft palate in the
roof of my mouth, inside my gum which cannot be fixed
by specialist as it is too dangerous to be done again. If I
did have another operation again, there will be so many
complications, and will have to have it like this for the
rest of my life. It is the same situation with my nose
that it cannot be fixed either, because of too many
complications. If I did have an operation it would be my
choice, but is a risk of losing a nose. Altogether, which I
really dont want to happen. It does really upset me
that they cant fix it altogether. The way I speak sounds
like I have a nasal cold all the time, but some days I am
ok. I used to get bullied because of the way I speak. It is
very sad. They used to call me squeaky mouse, or used
to call me shush because they cannot hear me, which
makes me sad. Sometimes, as I would love to speak
louder, and able to make a clearer sound like any
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normal people would do, but I hear it is part from the

Digeorge Syndrome.
Sometimes, I wish the hospital can help me to breathe
properly, because they are not going to operate on my
nose. I really struggle to sleep at night too and possibly
diagnosed with sleep apnea too.
I cannot hardly eat food because of my soft palate, and
it comes out in my nose. Sometimes it scares me,
because I choke on some foods. It is a struggle that
affects my life, because some days, I cannot get out of
bed. It is a very bad situation. I think it is anxiety and
depression causing it. I cannot even get out of the house
on my own. I am ok if I am with my husband, because he
has been there for me. It does affect my life, because I
cannot work at all. I know it seems lazy, but I really
cannot work at what I would like to do. I have been
playing the piano for 24 years, and loved it ever since.
With my condition, music is the only thing that keeps
me going, and to make me feel positive. If you love
something you like doing, you could make it happen. I
am now making my own music album about Digeorge
and making awareness out of it. It is not quite ready
yet, but it will be ready soon. I have been doing music
and photo shoots for the album. I would love to publish
a book about this syndrome, and would love to make a
movie about everyone with different types of 22Q. As I
am on my own with 22Q. I know there are thousands out
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there, who has 22Q. It will also give me an experience

to find out what other symptoms is in 22Q.
I also love to do ghost hunting with my friends. I do not
get out because I am normally in pain. My music and
ghost hunting is the only thing I can do. I have also
been having speech therapy. It has been really hard
lately as my memory has been really difficult. Some
days I remember quite quickly, and some days I cannot
remember anything at all. It confuses and worries me.
I have a hard time paying for my medication. It would
have been easier if the hospital can feed me in the
tubes, but I doubt that will happen.
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Michael
and
Stephanie
Jones
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Michael, Stephanie and Riley

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Stephanie Jones
Stephanie is from England

KNOWLEDGE IS HOPE 22Q

Accomplishments
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Hi, my name is Michelle Leigh Padilla. My Maiden name

is Hannah. I was born April 15, 1976 in Tuscan Arizona. I
was supposed to be born March 18. I was a blue baby,
which means, lack of oxygen that went to the brain. We
had to move to California, because at the time the Air
Force hospital didnt have the technology for my
medical condition. I was born with a Congenital Heart
Defect called Sever Tretology of Fallot. The first open
heart surgery was when I was 2 years old. The second
open heart surgery was when I was 5 years old. The last
open heart surgery was when I was 13. I had mouth
surgery because my pallet was so small, that when I
talked, they couldnt understand me. I was held back in
Elementary. I graduated from Narbonne High School
1995. At the age of 18 I had a Grandma Seizure, which
caused me to be in Acoma for about a week. I suffered
brain damage. When I was in Harbor College, I was
diagnosed at the age of 35 with 22q11.2. I was divorced.
I decided to go to Cal State Dominguez to get my Ba in
human services. Where I am now a DJ for KDHR about to
graduate this semester. Thinking about getting my
masters in social work.
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MICHELLE PADILLA Michelle Is From California

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KNOWLEDGE IS HOPE 22Q

There has been a lot of stories mentioning Digeorge
Syndrome, VCFS, and 22q11.2
I would like to share the Same Name Campaign With The
22Q International Foundation.

The Issue
Because of the way our understanding of the 22q11.2 deletion evolved, several different names
continue to be used for what we now know to be the same condition. These older terms include
DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), conotruncal anomaly face
syndrome (CTAF), Opitz G/BBB syndrome, Cayler cardiofacial syndrome, Shprintzen syndrome
and more. Genetically speaking, there is no detectable difference in the microdeletions found in
people with VCFS versus those with DGS, CTAF, or the other related syndromes. Individuals
with these diagnoses all have the same underlying condition: the 22q11.2 deletion syndrome.
Unfortunately, having a syndrome that is called by several different names can lead to negative
consequences, not to mention the general confusion it creates among parents and
professionals. For example, parents of a baby diagnosed with diGeorge syndrome may be
frustrated by the lack of information about DGS, not realizing that VCFS and 22q resources
(including this Foundation!) also pertain to their child. Health care providers may not access all
current and available information if they are searching for literature under an older name.
Perhaps most importantly, having several names splinters precious resources, hampering a
united approach to research and support.
The Foundations position is clear: Rather than further dividing our small 22q community, we aim
to unite and empower those affected by promoting use of the name currently recognized by the
standard chromosome naming system: 22q11.2 deletion syndrome.
To address this important issue, the Foundation is pleased to launch the Same Name
Campaign, an educational effort aimed at professionals and families, with the goal of
establishing consistent terminology for the 22q11.2 deletion syndrome. As a parent-driven
organization, the Foundation acknowledges that families who have lived for years with a
diagnosis of VCFS, DGS, CTAF or a related condition may find it difficult to switch to a different
name. We encourage you to support the aims of the Same Name Campaign by mentioning the
22q11.2 deletion, along with or without its older diagnosis name, when describing yourself or
your child. Over time, as professionals more consistently use the 22q11.2 designation, fewer
and fewer people will be newly diagnosed with VCFS, DGS, CTAF or other outdated names; our
goal is that eventually, all will be on the same page, moving in the same direction, supporting
our worldwide 22q community.
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The Foundation will of course continue to link our website to all related groups indefinitely,
regardless of what name they choose to use for this condition, to make sure that anyone
searching for information has the best chance of locating it.

EVENTS
The honor of your absence is requested by

The International 22q11.2 Foundation

at our 2017

No Show Valentines Ball

on Tuesday the fourteenth of February at
your home at any time
Its a fabulous affair you will never attend
We will proudly present not a single speech, no entertainment no
cocktail hour, no valet parking,
no need to be there Instead.
We cordially invite you
To join us in spirit by
making a contribution to

The International 22q11.2 Foundation

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Mark your Calendars for the Seventh Annual 22q at the Zoo
for
Sunday May 21st, 2017
Organized and developed by The International 22q11.2 Foundation, 22q at the Zoo is an event
that gives families, friends and professionals a chance to socialize, network and raise the public
profile of chromosome 22q11.2 syndromes.
Volunteers spread awareness by handing out our 22q fact sheets and educating anyone
interested enough to stop and ask about 22q. The event kicks off in New Zealand and continues
westward ending in the South Pacific having literally circled the globe. Participants are
recognizable, wearing the official 22q at the Zoo red T-shirt and Ask me about 22q buttons.
Check out pictures from past events and stay up-to-date on the latest news by checking out our
Facebook page!
For ticket information click on your local city or region. If there is no further information regarding
ticket sales please contact the designated coordinator for your city or region.
22q AT THE ZOO COORDINATOR RESOURCE KIT

FOR MORE INFORMATION ABOUT 22Q11.2 CONTACT

THE 22Q INTERNATIONAL FOUNDATION
Call us on our toll-free number:
877-739-1849
We will do our best to return your call as soon as possible.
Write us at:
International 22q11.2 Foundation, Inc.
PO Box 532
Matawan, NJ 07747

www.22q.org