Professional Documents
Culture Documents
22q Family Newsletter Final 14
22q Family Newsletter Final 14
org
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
www.22q.org
1.2 Accomplishments
1. Stephanie Jones Accomplishments
2. Michelle Padilla Accomplishments
1.2.1.2 Events
1. The No Show Valentines Ball
www.22q.org
2. 22Q AT THE ZOO www.22q.org
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
www.22q.org
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
www.22q.org
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.
www.22q.org
MARLEE TUCKER
The Tuckers Are From Alabama
www.22q.org
AN ANGELS EYES
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
www.22q.org
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
www.22q.org
KNOWLEDGE IS HOPE
www.22q.org
BRENDAN
www.22q.org
Michael
and
Stephanie
Jones
www.22q.org
Stephanie Jones
Stephanie is from England
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.
www.22q.org
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
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
www.22q.org