I was 24 when I unexpectedly got pregnant. I thought Hey! First
baby, I didn't smoke, drink or do drugs - Nothing could go wrong! Or
Could it? I had my very first ultrasound at 21 1/2
weeks. I was going to find out the sex of my baby. I was so
excited and anxious to know that I couldn’t hardly wait till they
called my name. “It’s a girl!” Tears welled up in my eyes as I
looked at my baby girl on the screen. Her heart beating, her hands
and feet just moving everywhere. She was an active little baby. I
was in complete awe and enjoying every minute that I saw of my
little angel on the screen. Because I saw what I believed to be a
normal, healthy baby, my oblivious happiness continued throughout
the entire ultrasound. The technician gave me no indication that
there was something terribly wrong with my child. I was given my
ultrasound pictures and I was sent to the waiting area for my
regular ob check up. While I waited the nurse called me back to the
doctors office. During my regular visits I never had to talk with
the doctor in his office, I just knew something was wrong. As I waited impatiently, my nerves shot, palms sweaty - I
just
had a bad feeling about this. Calm down! Everything is going to be all right.
The Dr. came in, introduced himself, and said that he found some things in the
ultrasound that was disturbing to him. He found a growth on her neck and her
positioning of her hands and feet were abnormal. He wanted me to get a second
opinion from the Drs. down at Maternal Fetal Medicine. He scheduled me an
appointment with them later that day for another ultrasound. He then brought me
back to the waiting area so I can get my regular 4 week check up. That’s when I
broke down. I hated to do it in front of other expectant mothers but I couldn’t
hold back. After my check up I had a few hours to kill so I ate lunch and called a few people for support. “It’s a girl, but there’s something wrong”
Talking about it just made me feel worse. I was so happy that I finally knew
what she was but at the same time I was dying inside. I kept asking myself , why
was this happening? what did I do wrong? I just hoped that the next ultrasound
would prove the first one wrong and she’s was in bad position that gave the
doctor a bad reading. Realistically I knew that wasn’t the case but I just wanted her to be OK. The not knowing and unanswered questions was killing
me. Talk about growing up REAL fast.
I went that afternoon to MFM for another ultrasound where they confirmed the
DR’s findings. He said she had a thickened nucal fold, an enlarged heart, her
hands and feet were turned inward and low body weight for gestational age. My heart was going a
100 miles a minute as I tried to understand the words that he was saying.
He explained to me that it possibly was Down’s syndrome or another type of
genetic disorder due to the particular pattern of anomalies that were observed.
He suggested I have a amniocentesis done to see what exactly my daughter’s
condition was. For ease of mind, I decided to go ahead with the procedure. This
was a very hard decision because there was a high chance of a miscarriage but I
really needed to find out what exactly is going on. Thankfully, although
painful, the procedure was done quickly and with no complications. I then talked
with a genetic counselor to explain what I had in store and what to expect over
the next few weeks. It would take two weeks to get the results
back. The longest days of my life. It was a quiet ride home. I were
devastated and at a loss for words. I was overwhelmed with sadness and
anger not to mention the weight of all the information that was given to me. So
many thoughts went through my mind. How would care I for a physically
disabled child, what types of surgeries would she have to endure, how would I
afford the surgeries and how much will she struggle through life with such
disabilities. Of course I would love our baby no matter what, which I already
did, but I knew how cruel others could be and how society could sometimes have
hang-ups with embracing the disabled. Life is hard enough without having these
types of problems to begin with. I was both sad and scared for my baby.
Two weeks passed rather slowly, when the phone rang. It was the genetic
counselor with the results from the amnio. It came back normal. It wasn’t a
chromosome disorder. It was something else, but what? They would know nothing
further until she was born. I continued to see the specialists at MFM. The visit
after my results came back was probably just as overwhelming as the first. The
doctor stated by law, because they are unsure of the severity our baby’s
condition, that I could opt to terminate the pregnancy. He was stopped
immediately and was told that wasn’t an option. I needed to give this baby a
chance. No matter what she had, what her disability was I was going to give her
a chance to live and she was going to be loved and cared for the same way
I
would any other child.
My case was presented at a genetics board meeting where a possible diagnosis
was given. Amyoplasia. A muscle disorder that affects the hands and feet. They
could not confirm this until she was born so I continued to see two sets of
doctors, twice a week- since now my pregnancy was considered high risk. The next
few months, things just got worse. My first 5 1/2 months of pregnancy I was sick
- vomiting 3-4 times a day. My baby was not doing her “breathing exercises” and
her Bio-Physical Profile scores were low. She needed to score an 8 out of 8 and
she at times would score a 3 or 4. She was slowly gaining weight but she was
still at a low weight for how far along I was. The specialist told me if she
continued her low scores that they will need to take her because there was a
high chance she may die in my womb. If she did make it through pregnancy, there
was also a chance that she would not survive after birth. I just couldn’t
believe all that they were telling me. How can they say that my baby was going
to die? She looked so perfect on the screen. How can they let this happen? Life was
completely changed forever. Everything that I thought was important
before no longer mattered. I had bigger challenges to face. I needed to
get through this. I need to be strong for my baby.
Abigail Marie. The perfect name for my perfect sweet first born child. Regardless of the traumatizing facts of
my situation, the
feeling of giving my child a name made everything seem normal again. Knowing
that I gave life to Abigail Marie was probably the only thing that kept me
strong during my time of pain. The challenge of preparing for my daughter’s
birth and possible death at the same time was very hard. I felt so helpless
because there wasn’t a thing that I could do to protect her. Instead of
preparing her nursery, I was preparing for her funeral. Not knowing if she would
survive after birth made me fully appreciate every day I had with her in
my womb. And by this time, she had become more and more active. Just as other
parents, I was overjoyed when I would feel her movements, kicks and
hiccups.
I found it hard to be out in public and deal with all the comments and questions
from people who noticed that I was expecting. Sometimes, depending on how strong
I felt at the time, I would share my situation with them. Some
suggested that I should just end Abigail’s life, which was very upsetting, but
most people were extremely supportive and valued my daughter’s precious life as
much as I did. The term "you are so strong" was heard often, although it didn’t
feel like it most of the time. Focusing on my career obligations was also an
incredible challenge. But I had to persevere, at least for Abigail’s sake. Just
as every helpless child does, she relied on mommy to be strong for her and
care for her unconditionally.
Although I had an incredible network of people praying for Abigail’s health in
hopes of a miracle, that my little fighter would pull through this, I still
prepared for the worst. My family and friends were so supportive and
thoughtful throughout our entire pregnancy. I received so many special gifts for
Abigail and cards reminding us of how much Abby & I were loved. The phone rang
off the hook with people who were just checking to see how I was doing and if I
needed anything. Their continued love and support gave me the courage to get
through each day. While I continued to enjoy and find laughter in her frequent
antics in the womb, I became more aware of our due date that was quickly
approaching. I made it a point to read to her, tell her stories, rock her and
play her music through headphones. I talked to her and told her how much I loved
her. I did everything I could to make her feel loved and cherished.
July 29 2002 - I was 38 1/2 weeks pregnant. Abigail gave a hard time with the NST (non-stress test). Her heartbeat was off and on. The Dr. didn’t want to take
any chances and put in an order for me to be induced. I was to return at 6pm
that night and by the next morning - our little angel would be born. I spent the
few hours that I had before I returned to the hospital anxiously getting ready.
Packing, cleaning up and making sure the dogs were taken care of. I checked
into Labor and Delivery at 6pm sharp. After all the paperwork was done I hopped
in the bed and waited anxiously for my contractions to come. It was 3:30 am when
my water broke. At 10:03 AM, I gave birth to Abigail Marie. She weighed
4lbs & 14 ounces and was measured at 18 inches long. I only got a quick glimpse
of her before the doctors swept her away and brought her down to the NICU (neonatal
intensive care unit). She was so beautiful. She had black hair, the cutest
little button nose and a strong set lungs. I knew from that point on that she
was going to be ok.
I was in recovery for about an
hour before I was taken down to NICU. I couldn't wait any longer to see Abigail.
I knew that I had to rest and take care of myself but I wanted to be by her side
- I wanted to know that she was safe and healthy. I wanted her to feel my
presence and know that her mommy loved her so much. Abigail was
placed in a heated crib and had wires attached to her chest, hands and feet.
The neonatologist explained everything that was hooked up to her (heart monitor
, IV, BP etc... ) and gave the results of the tests he ran on her. Besides
her obvious positioning of her hands and feet - there was no signs of a growth
on her neck, the echocardiogram showed no signs of any defects and she was
breathing on her own. Abigail beat the odds. I couldn't be any happier.
While Abigail was in ICU -she fed every 3 hours. She had to do a 24 hour
feeding with no problems before she would be discharged. I tried to
breastfeed her but my milk flow was low and she had trouble latching on. :) It
was decided to put her on formula so she could come home.
The Clinical Genetist formally
diagnosed her condition on August 1st, 2002. Abigail has Amyoplasia, a form of
Arthrogryposis Multiplex Congenita. This is typically a sporadically occurring condition (one in
3000 births) in which children have decreased muscle mass and positional
deformities of extremities due to decreased intrauterine movement. Basically,
Abigail hands (internally rotated) and feet (clubbed bilaterally) are turned
inward. She also has a hemangioma (strawberry nose) present on her nasal tip.
Abigail will be seen in a few months for a genetics follow-up and will be seen
by the Shriners Hospital for Children for the next 18 years. She will wear
splints to try and correct the positioning of her hands and feet and receive
occupational and physical therapy at home to prepare her for surgery next year.
It has been an extremely long and
hard year. But by God's grace I have my beautiful baby in my presence.
I have no regrets regarding any decisions made for
Abigail, nor at any point consider her life a choice. My experience with Abigail
has inspired me to rethink my priorities and reflect on what is truly important
in life. I have learned to be a strong person and to be strong
for Abigail. God creates obstacles that we must all overcome.
I would like to thank my family and friends for their support and prayers during our time of need.
You all mean the world to us and appreciate all that you have done. I hope that
the years ahead will be a lot easier and pray for Abigail's quick recovery.
Abby poses for Rick Guidotti, award winning photographer & director of Positive Exposure - Celebrating
the Spirit of Difference.
Rick's work has been featured in People & Life Magazine and is showcased in
galleries around the world.
Abby & Rick :)
Recommended
AMC Doctors/Hospitals
Dr. Harold Van Bosse - Shriner's Hospital for
Children (Philly)
~ Dr. Van Bosse is an orthopedic surgeon with a special interest in AMC. You can
read about him on the NYU website but his description on the site does not fully
describe the dedication this doctor has for his work. He is truly an
amazing doctorwho really cares about his patients and their families.
I highly recommend that you make your appointment with his office today!
Genetic Report - read the details of the
doctor's findings regarding Abigail's condition. Pre-natally-3mons old
Her Growth
At Birth
Abby weighed 4lbs 14oz & was 18" in L
At 29 months Abby stands at 28" and only weighs 17 pounds.
At 3 years 9 months Abby stands 35" and
weighs 23lbs
At 4.5 years Abby stands 36" and weighs 26lbs
At 4 years 10 months Abby stands 37" and weighs 27lbs
At 5 years 3 months Abby stands 39" and weighs 30lbs (with her AFO's &
shoes on)
At 6 years 4 months Abby stands 41" and weighs 35lbs
Just The Three of Us
Abby's Hemangioma
Abby was born with a facial
mark that doctors call a Hemangioma - but mommy's call them stork bites or angel
kisses. It's a strong red mark that can be found throughout the facial
area - predominantly the forehead, nose and upper lip area. This has also
be noted to be a classic sign of Arthrogryposis. Many children with AMC
have this *kiss* on their face. Some are more prominent then others.
Abby's is mainly on her nose. The redness has faded over the years but if
she gets mad, sick, or crys this area flares up bright red. Allot of mom's
have asked about this strange marking and when it will fade. I hope this
will ease some of your worries. I believe this marking is just a pure
reminder from God about how special and unique our children with Arthrogryposis
are.
How she eats
Abby was a formula fed baby - mostly because it was the only way
to get her out of the NICU. She never really had trouble
holding onto a bottle - she found her own ways to prop it up.
I found this amazing bottle at Toys R Us. It's called the
Podee and it's a hands free system. The nipples, straws, and
tubing system are all disposable.
Podee - Hands Free Baby Bottle
When Abby
started eating finger foods on her own (ie, goldfish, gerber puffs),
she had a unique way of getting the food to her mouth. Instead
of picking up the *puff* from the table and bringing it straight to
her mouth - she would pick up the puff, raise it straight up in the
air and let her arm fall to her mouth. A few months of OT
helped with this motion (to eliminate the food to the sky step) but
it was sweet to see how she invented ways to eat. Abby always
preferred to use her fingers to eat her solid food. She is
almost 6 and would rather eat with her hands. I don't force
her to use her utensils only because she eats a whole lot more this
way. She can get frustrated if she cannot get the food item on
her spoon or fork. And Yes! I still cut my babies food up in
bits and pieces. Abby can carry her lunch tray at school from
the food area to the seating area only needing assistance to lift
the tray onto the table and to open her milk carton.
Ani & Jennifer
(Jen is an Adult with Arthrogryposis & My BESTest Friend!)
Photo by Rick
Guidotti
Abby's procedures Heal Cord Release
Talectomy (removal of the Talus
Bone)
At 11 months old, Abby had two procedures done to correct her severely clubbed
feet at the Shriners Hopsital in Greenville, SC.
She was casted for 14 weeks. 6 weeks in long leg casts with bar. 6
weeks in long leg casts without bar. 2 weeks in short casts below knee.
Abby was sent home wearing pretty purple Ankle Foot Orthotics or (AFO's).
Walking
Abby probably heard the doctors talking about her never being able to walk
in my womb - because this was one DETERMINED little girl to prove EVERYONE
wrong.
Abby started walking at 22 months. A little wobbly and lots of falls but
she did it.
Abby's Therapies & Extra
Curricular Activities
Physical Therapy
Occupational Therapy
Speech Therapy
Hippotherapy
Aqua Therapy
Early Intervention ( Family Training)
Massage Therapy - Abby likes to paint like (Reesa) Theresa - an
adult AMCer who paints beautiful watercolor paintings with her mouth.
Special Needs Karate - Abby is a Yellow Belt for the Gifted Warriors - She also
performs with their Demo Team.
Miracle League - Abby participates with the Carolina Miracle League at Miracle
Park.
Abby's Daily Exercises
Range of Motion
Photo by Rick
Guidotti
Hands
Stretching - holding each stretch for one minute 4-6 times a day supporting
joint, stretching wrist up and thumb up and out.
Hand Exercises with
Theraputty.
Wears hand splints 3-4 hours a day. They have also increased the time she
wears her Hand Splints at school. Her therapist noticed her hands turned
toward her little finger. So we are giving extra support to keep her hands
in a neutral position. We also use Kinesio Taping on top of her wrists and
thumb joints.
Abby uses spring
action adaptive scissors at school to help her cut with ease.
Abby wears Benik
hand splints on her hands and AFO's or Ankle Foot Orthotics on her feet.
Photo by Rick
Guidotti
Feet
Stretching & Kinesio Taping Abby's PT Session - see how her PT does her stretching exercises
Abby, Aiden & "Grandma Mary"
Other Related
Problems
Upper Respiratory Infections
Allergies
Asthma
Pain
I was given a
prenatal diagnosis of Amyoplasia at 21 1/2 weeks. Abby's clubbed feet and
"police man tip" hands were identified in the ultrasounds. My
only complaint during this pregnancy was the constant nausea ( 5 1/2 months of vomiting). I lost 40lbs instead of gaining! My pregnancy was
considered high risk and was given weekly NST (non-stress test) and Bio-Physical
Profiles ( BPP). (Read complete story above for more details)
I was assured early on that the chances of AMC affecting another one of my kids was very low.
There are over 150 types of Arthrogryposis Multiplex Congenita.
Abby & Aiden
Abby's younger
brother has global hypotonia. We are scheduled to see a genetic specialist
too see if Aiden's low muscle tone is linked in any way to AMC. (2004)
Aiden is doing just fine today. He went through a year of PT, OT and
Speech and did exceptionally well.
He was discharged from all therapies scoring above his age appropriate range.
(2005)
Someday I'll jump through puddles,
Take a stroll or run a race
Someday I'll walk across the street
or maybe walk in space.
Someday I'll scale a mountain
or I'll join a ballet corps.
Someday I'll walk a tightrope
or explore the ocean floor.
Someday these feet will do something
that only heaven knows,
but for today they're happy,
just to wiggle all their toes!!!
On her feet at therapy
HALTER ~ Handicapped Athletes
Learning To Enjoy Riding
Abby has been riding with
HALTER since she was 18months old. 6 years later - She is able to ride her
horse unassisted. She amazes me everyday.
Special Needs Competition - Eden's Farm (Marietta, SC)
2nd place - Walk (Assisted)
1st place - Walk & Trot (Assisted)
3rd place - Trail (Assisted)
ARTHROGRYPOSIS - Online Support Group
AMCSUPPORT.ORG - Your one stop
website to get all the latest information on AMC. Join hundreds of
families for support, friendship and fun.
I created this online support group in 2005 when my email box became overwhelmed
with questions from new and expectant parents of children with Arthrogryposis.
Some of the questions the families had I could answer - some I could not.
So I proceeded to connect families via email who had similar stories. Soon
after I created a website (amcsupport) with a user friendly message board and
invited all the families who sent me questions over the years. It
took off from there! Our dedicated members have made this online
support community a real family. We currently have 800 members from
all around the world. We have held 3 AMC conventions (Chicago, Texas
& Ohio). The group
has obtained their incorporation status in 2006 and has received their 501c(3) status
in September 2007. Arthrogryposis Multiplex Congenita Support
Inc. consists of 9 dedicated board members who have AMC very close to
their hearts. We are dedicated to serving our families with advice,
support, and comfort.
AMCSI will be hosting the 4th Annual
Arthrogryposis Convention this summer in Philadelphia, PA. We are
excited to announce the attendance of Dr. Judith Hall & Luca 'Lazy Legz'
Patuelli. Please contact our convention chairs (Marybeth, Kathleen,
or Reenee) at pa@amcsupport.org or
visit http://www.amcsupport.org
for more information.
AMC Documentary ~ The
Sweetest Gift: Living with Arthrogryposis.
A documentary produced by Margaret Chaidez (Owen's Mom) focusing on those
living with Arthrogryposis Multiplex Congenita & their families.
In production. Release date set for late 2009. http://www.amcdocumentary.org
We had the privilege of welcoming Peg into our home to film our family for
this wonderful project. I am so honored to be a part of Peg's dream
and extremely thankful for all she has done for our families and AMCSI.
What an amazing experience!
Peg & Abby
Touching So Many Lives
University's/Schools that have featured Abby's
Story & Pictures in Presentations & Reports I know a lot of visitors come
here to research AMC...so I will try and provide as much information as
possible. If you use any of this for a research project or presentations
please give credit where credit is due. Also if you are using specifics
about my daughter please ask before using her info or pictures in your reports
or presentations.
Rockhurst University- Kansas City, MO - Student
Johns Hopkins University - Baltimore, MD - Student
Northern Arizona University - Flagstaff, AZ - Doctor of Physical Therapy
Worcester State College - Worcester, MA - OT student
Salem State College - Salem, MA - Professor teaching a class
University of Connecticut School of Social Work - West Hartford, CT - Student
University of South Dakota - Vermillion, SD - Physical Therapy Assistant
Students
Tidewater Community College - Virginia Beach, VA - Physical Therapist Assistant
Students
Oakbrook Prepatory - Spartanburg, SC - Student
Midwestern University -Glendale, AZ - Occupational Therapy Student
University of North Carolina - School of Medicine - 3rd year Medical Student
Florida Community College - Jacksonville, FL - Physical Therapy Assistant -
Student
Columbia University - New York - Physical Therapy Student
PT in UK did a presentation for colleagues using Abby's pictures
Special thank you to the students and professors who do ask for
my permission (fill out form below) and giving credit to Abby's site!
Abby paints a horse with her mouth
Abby & Friends on the Beacon Drive-In Billboard! Call-IT!!!
ABBY'S PUBLISHED!!
Abby's picture is in the Second Edition of the academic textbook -
Anesthesia for Genetic, Metabolic and Dysmorphic Syndromes of Childhood written
by Dr. Baum and Dr. O'Flaherty published by Lippincott, Williams & Wilkins -
Available for purchase NOW at amazon.com. Book list price $150.
Spartanburg Herald
Journal
Abby & Theresa - Front page of Sunday's Spartanburg Herald Journal
Story by Lee Gray Photos by Mike Bonner A
Little Less Talk
Photo by Rick
Guidotti
Make a Donation If you have found this information helpful and would like to contribute to this
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donation is greatly appreciated. Donations are used to maintain and
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Abby rides Shadow @ HALTER - (Click picture to
watch video of Abby riding Shadow)
Meet Abby's Mom
Ani created AMCsupport.org, an online Arthrogryposis Multiplex
Congenita (AMC) support group in July of 2005. Ani, the mother of Abigail
Marie, a child born with Amyoplasia, a form of Arthrogryposis,
created the group because at the time, there was very little information
available to families due to the rare occurrence of AMC. The online group
was a direct result of the high volume of emails she received from families
regarding a website she had created to document her daughter’s progress.
During the ensuing years, the interest and activity of the online support
group grew and blossomed. From the original 30 members, membership has grown
to over 500 families. Once a strictly online community, AMC support brought
families together for The First Annual AMC Convention, a real world
gathering, in Chicago, Illinois, during the summer of 2006. A second
convention held in Arlington Texas, July 2007 brought even more families
together. The largest portion of Ani’s dream was to form an IRS recognized
501(C)(3) corporation that would continue her support of families and
medical professionals well into the future. With the help of an army of
volunteers, and the generous contributions of Roland Pieper, an attorney
whose granddaughter has Arthrogryposis, a Board of Directors was created,
and work began on the daunting process of becoming a non-profit corporation.
Submission of the application for the approval of the IRS occurred on
October 6, 2006. On September 7, 2007, Arthrogryposis Multiplex Congenita
Support, Inc. was granted Non-profit status as a 501(C)(3)corporation, and
that dream became a reality. (ms)
AMCSI Girlz - Ani (founder), Theresa Lucas (Vice President),
Jennifer Keeton (Our 'Tresure'r) Photo by "Crazy Rick" Guidotti
“What time I am afraid, I will trust in
thee. In God I will praise his word, in God I have put my trust;
I will not fear what flesh can do unto me.”Ps. 56:3,4
Proud Parents Ani & Darrell
Big Sister Abby & Big Brother Aiden
My Handsome Hubby & Our Beautiful Daughter Bella Boo
Thank You for your continuous support, love and prayers. Love You All.
Family is formed in the ♥
