2012 Williams Syndrome Family of Hope 5k and Fun Run

Williams Syndrome Family of Hope Mother’s share there stories. Each of the stories is as unique as their children are, but they share experiences that only another Williams Syndrome Mother could understand.

Connect to  WSFOH-website: http://www.wsfamilyofhope.org/

 

 

My
name is Karen and my son is Tyler Quinton.  He is 18 years old.  I will
try to cut down on his story and make it brief, but I tend to ramble on
when given the chance.  🙂  Tyler was a week late, born via c-section
and weighed 6 pounds.  Everything seemed okay.  After 4 days in the
hospital, we had to return daily for lab work because he was a little
jaundice.  He never slept more than 1 hour at a time.  I was exhausted.
After 5 days of this, he finally just slept!  I couldn’t get him to
wake long enough to eat.  I felt for fever and he felt so cool.  I
thought maybe he was just making up for all the lost sleep.  This went
on all day and by evening I was really worrying.  I checked on him and
his breathing was very shallow.  We went to the local ER and the doctor
immediately thought he had spinal meningitis.  He probably picked it up
going back to the hospital for daily lab work. They went ahead and
started IV antibiotics (the only vein they could get it in was in his
head).  His temperature was 95 degrees.  The doctor said sometimes with
newborns, their temp goes down instead of up!  I had never heard of
this.  The doctor sent him by ambulance to a hospital about 25 miles
away to be seen by his pediatrician.  His ped did a spinal tap and Tyler
started having seizures during this.  He also heard a heart murmur that
had not been there at birth.  He wanted Tyler sent to the Children’s
Hospital in Birmingham, Alabama to have his heart checked.  Tyler was
flown 2 hours away.  It was so hard to see him being taken out to fly
and it would take me 2 hours to get to him.  When I got to Birmingham,
Tyler was in his own isolated room with his own nurse.  We could only
see him every few hours and had to wear gowns, caps, masked, etc.  After
2 days we found out he had viral meningitis and that his body should
fight it and he should be fine.  This same day, the pediatric
cardiologist from University of Alabama came in to find out what was
causing the heart murmur.
He did an ultrasound while I watched and
said Tyler had supravalvular aeortic stenosis and that he probably had
Williams Syndrome.  I was floored!  Remember, this was 18 years ago…I
couldn’t grab my phone or computer and look this up!  My sister went to
the University library and found 1 short article about WS that was quite
depressing!  The cardiologist had genetics come by the next day to
confirm and they felt like he did have WS.  This was also before we knew
about the FISH test.  The geneticist gave the number for the WSA and
our journey began.  My world completely changed when Tyler was 2 weeks
old!  After 7 days in the hospital, Tyler was able to come home.  Tyler
would not sleep more than 1 hour at a time.  The only way he slept was
in a bouncy seat beside my bed with me bouncing him every hour.  When he
grew out of the bouncy seat he slept in a swing with me getting up
every hour to  wind the swing.  The swing broke one night and I spent
the night pushing the swing with my arm hanging off the bed.  I worked
full-time during all this and drove 35 minutes each way to work.  I have
always said I had a guardian angel driving my car because I was so
exhausted, I never remembered driving.  From the swing, Tyler finally
would lay in bed –only with me.  He was very restless, but I got much
more sleep anyway.  I was in heaven with 4-6 hours of sleep even if it
was put together in 1/2 – 1 hour bits.  Tyler also had colic terribly.  I
had to tell the ped what to check for and had him check Tyler’s calcium
levels.  His levels tested at the max level of normal.  I went to the
grocery store and checked every can of formula on the shelf and found
the one with the least amount of calcium.  It was Carnation Good Start.
It had much less calcium than the others.  Tyler was sooo much better
within 3 days on his new formula.  He had torticollis surgery at 5
months and again at 10 months.  Things started settling down with sleep
patterns, etc. after 3 years.  He walked at 3-1/2, potty-trained at
4-1/2.  He started an early intervention program at 3 months and went to
the school system early intervention at 3 years.  He was mainstreamed
until 5th grade and has been in special ed classes since then.  We have
been blessed with good health.  His heart stenosis is mild and has never
needed surgery.  He has scoliosis and wore a brace for years.  His
curvature is 30 degrees and didn’t need surgery.  Tyler was involved in a
research project with Dr. Mervis when she was at Emory University in
Atlanta.  He saw them once per month for years.  Dr. Mervis gave me so
much information.  She was my lifeline.  Then, as time passed I was able
to connect with others over the internet.  It has definitely been a
different life than I ever expected.  I can say that Tyler has taught me
more than I ever thought possible.  He has definitely changed my life
for the better.
Hi everyone. This is Logan’s journey so far….It pretty much began when I was pregnant, Logan wasn’t growing and I
had a lot of problems with flows through the umbilical cord.
I was induced at 38 weeks, he weighed 4lb, so tiny.
When he was just 4 weeks old he was in hospital with bronchiolitis, we were in for 8 days, it was here that it all snow balled.We met the wonderful Dr Adamson, she discovered his heart murmor, and
once out of hospital we visited her every 2 months. In the beginning she
thought Logan may have Noonans Syndrome. His cardiologist was the one
to discover his high BP, but his pulmonary stenosis over time became
milder.
Then last year in September
at a routine visit to Dr Adamson, a BP check showed Logan’s BP at
147/99. She admitted him straight to hospital and there the tests began.
He was diagnosed with hypothyroidism, hypercalciema and then on the 6th
day WS.
I have never been upset about the WS, I know I’m so blessed
just to have him, he is so beautiful. But the medical conditions at the
time were so serious, I was a nervous wreck! But I kept it together,
despite a cannula that leaked into his arm tissue causing his tiny arm
to swell to the size of my bicep and then in the rush to provide pain
relief they overdosed him on codeine, he ended up being just fine and we
left the next day, but I am forever traumatized!!
Logan is gorgeous
funny and so so sweet. He has his medications every day, is on a low
calcium diet, he has a 3 hour daytime sleep, then goes to bed and sleeps
from 7 to 7am. The first 6 months though  were pure hell, he screamed
constantly, I never had a “screamer” before, my other 2 were never like
that. But once his umbilical hernia corrected itself he settled into
sleeping much better. Logan also has ptosis in his right eye ( i think
that is the word).
Thank you for reading our story.
Hi I’m Cheryl and this is ethan’s story:I had a normal pregnancy and Ethan came on his due date weighing in at
6lb 7oz. Everything was find for about the first three months. Except
for him not being able to poop without a q tip. A few days before he
turned three months old Ethan stopped breathing. He stayed in the
hospital for a week and all they found was the murmer, so they sent us
to the hospital in new Orleans. We stayed there for another two weeks
before we got a diagnosis of hypothyroidism. A few days after that the
geneticist walked into the room looked at Ethan and said “Thst baby has
Williams Syndrome” he ran the test and there it was. We were sent home a
few days later and the whole ride home Ethan cried. When we got into
town I took him straight to the hospital because e had a
fever of 104. It was pneumonia. They put him on oxygen and while we
were there the cardiologist told us he had pulmonary artery stenosis and
that eventually he’d need balloons to widen his arteries. He also told
us that we were extremely lucky because other kids with Williams
syndrome have much more severe heart problems. We stayed I the hospital
another week and left with an order for continuous oxygen and a home
health nurse visit once a week, and rx for captopril (blood pressure)
and Levothyroxine (thyroid). He had appts every three months with the
cardiologist but he kept puttin the ballooning off because Ethan was so
small. Ethan kept improving! His appts went to every six months.  We
recently moved and the new cardiologist thought his condition had
worsened so he ordered an MRI this past feb but everything was fine! Now
his appts are once a year. Ethan is in a special needs prek program and
he gets speech therapy at school. (he’d been getting speech therapy
since 12months).  He’s a little delayed but physically he can keep up
with kids his age. We’re still a wrk in progress i still feel clueless
sometimes but Ethan is so strong and he’s made me stronger than I’d ever
thought I could be! We’re very blessed not to have gone through any
surgeries. Ethan is so loving and I couldn’t have asked for a better
son! ^_^
Hello,
friends! If now, at midnight I do not sat down to write our history I
do not know when I will find  better time ……… I had a normal
pregnancy, my son Miti / Demetrius / was born by planned caesarean
section  on 22.06.2010g. Doctors said he has lucky because he had a true
knot of the umbilical cord, which makes it more difficult feeding him.
On the fifth day his pediatrician heard a noise in the heart. Peripheral
pulmonary stenosis. Doctors said they will track  him heart every few
months. Miti was 7-8 months and I began to feel that something was wrong
because I have another son, age 12. My mother, my father and the father
of Miti “jumped” on me – telling me I’m paranoid that I suggest. Once
Miti was 11 months old – I was 100% sure that something is wrong. On the
Internet I read about the noises of the
heart and there I found a site with pictures of children with WS and  I
was dumb-  I came across a site of the most beautiful angels in the
world, and my Miti bears a striking resemblance to them! Geneticists
only confirmed the diagnosis, which was 100% safe – Williams syndrome.
This diagnosis ruined me. I am a man, a perfectionist, I like to
elaborate everything to perfection. I thought God punished me.I did not
want to live  – I thought that he blew up in life, thinking about
suicide. Doctors in Bulgaria do not know almost nothing about the
syndrome, and I read everything I found on the Internet. Having
recovered from my  initial shock,we began to visit  physiotherapy,
thanks to which a month later he was crawling as fast as a cockroach,
and 18 months he was walking alone, but of fear he feels safer crawl.
Now Miti visit a  Speech Center and all love it there – he is the
smallest and most sweet their patient! Now, nine months after diagnosis,
I believe that Miti is a gift from God, in the evening – tired and
shitty from job I rushing to embrace him and kiss him countless times!!
He is always smiling, happy, sunny child – like all your children with
WS! Now children with WS are my weakness – I love to see pictures of
your kids!
my
name is shelly and my daughter is erica whos 8 years  old.  ericas
story started when i took her to the hospital for breathing problems and
they treated her for browncoitios it never got no better i took her to
her family doctor and said  that erica never had that and plus the
doctor had gave her to much of a treatment and she was lucky to be
alive. She send her to see her peds doctor and there she said something
was wrong with erica so she got her admitted in the hospital they done
some tests found that she had thyroid problems and something wrong with
her heart. erica got admitted to the hospital a second time too for more
tests and finallyy we got an appointment for her heart doctor and he
found she got a mild case of senosis in her left aterie. a couple months
later they diagnoised her with ws. so we have been taking her to speech
therpy ,physio and lots of other appointments to try and help her.
erica has come along way with everything, i am still learning every day.
i love my daughter so much i wouldn’t change her for the world. she
works hard to learn things but when she gets it there is no forgetting
it then.
Good
morning everybody! Well here’s my story. I had difficulty carrying all
of my children. I lost 2 and I have 2. I have a 12 year old girl and
when I found out I was pregnant with Mikayla I ended up in complete bed
rest from day 1. In my last trimester I had a ton of pressure and they
did an emergency c section. Mikayla was 11 days early weighing in at 5
lbs. The pressure I had was from Mikayla gripping onto my umbilical
cord. Her heart rate was irratic but not serious. When she was 2 days
old they found the murmur. But at the same time her hymen never opened
up so she had a water filled tumor that was 5 inches long crushing her
kidneys. She was 18 inches from head to toe. So they rushed her to the
nicu. Once they took care of the tumor they released her. When she was 2
months old we had an appt with the
cardiologist cause of the murmur. They did an echo and an EKG. At that
time he mentioned WS because of the stenosis in her pulmonary and aortic
arteries. But the narrowing in the in one is back to normal and the
other one is only 2% closed. So there is absolutely no concern. Her
kidneys are great and working great and her calcium levels are where
they should be. The reason we got her tested now is because of her
delay. The mention of WS has been in the back of my head for a very long
time, but her peditrician never really saw it. She has the features but
they were not as prominent until now. Even though she has it and we
have the delays and the screaming and the high sensitivity to noises, I
do have to say that I’m very lucky that medically she’s good. Even her
teeth are great. Sometimes I feel bad being on here, but I’m still
learning. It’s only been a month since we found out it’s been a very
long road.
Hi,
I’m  Paige mother of 3. 2 boys 11 & 7, And one little miracle Mary
Grace WS 16mo. We live in Fayetteville, AR. In every way possible she
was a complete surprise to our family!! My pregnancy was complicated. I
have a pelvic AVM which the drs found at the same time I found out I was
pregnant. After a large blood clot developed in my leg, 13 weeks on bed
rest, an emergency c section which the drs didn’t think I or she would
make it through, she was here. She was tiny 5.4. I remember seeing her
and thinking her ears looked weird, but he was so small & my boys
were big babies. She spent 5 days in the   NICU where the drs assured me
she was fine. We went home & at 2 months she developed terrible
reflux w/ projectile vomiting, but more than that she started having
trouble breathing. She was diagnosed at 3
mo with laryngomalacia & bronchomalacia (floppy airways) they
assured me she would out grow it with time, but it did cause reflux. She
was  a terrible eater had trouble w suck/swallow reflex & would
only eat completely asleep. At 4 mo she got RSV & spent 14 days on
the vent in PICU & 14 more days on the floor. She was so sick! After
that she wouldn’t take a bottle again. She got the g tube & Nissen
at 7 mo. She was developmentally behind, but the drs told me not tot
worry and blamed it on everything she went through. I took it upon
myself to see a developmental ped when she was 10mo. The dr did all the
genetic testing & at 12 mo she had the diagnosis. I remember the dr
telling me and feeling both a sigh of relief b/c I knew something was
wrong & I thought I was going crazy & the terrible realization
that now I knew something was wrong. Of course, this isn’t the journey
in my mind I had planned for our family. However, God has always
surprised us and we trust in His strength to get us through. We take it
day by day & we love our little miracle. It is exciting and
frustrating at the same time to see what she does. It’s a learning
process for us, but I know God has some mighty plans for her and all the
lives she will touch! It’s a  journey everyday and we are along for the
ride trying to provide the best support we can for her.
I am Erika, and here is my daughter Abby’s story 🙂

When Abby was born she had low blood sugar problems because of my
gestational diabetes, and she had a lot of trouble learning how to
feed/suck from the bottle.  She spent her entire first week in the NICU
but they let her go home with us the day I was released and said she was
fine.  It was later that night that she started to cry constantly and
scream when we were trying to feed her.  I think we had at least 10-12
emergency room visits during her first 6 months.  Abby had severe colic
for the first 6 months of her life – we tried every formula on the
market and even the specialized ones you have to order and nothing
helped.  At 6 months 1 day it was like the curtain opened and she
started sleeping through the night and the colic disappeared overnight.
I still to this day don’t know how I made it through those 6 months!!

At 2 months of age we took her to a gastro doctor to try and
find out if she had colic or some other problem – the doctor heard a
heart murmur and said although it was probably normal to get it checked
out.  We went to Indianapolis to see a peds cardio doctor and when we
got there he wanted to take her into surgery immediately.  He was under
the impression that she was not thriving, which in reality she was
thriving.  She had been gaining weight and was healthy other than the
developmental delays and colic.  So he told us to come back in 3 days
and we did, Abby had coarctation where the aorta had an excessive
buildup of muscle tissue and it was narrowing the artery.  So on 2/27/07
she went in for surgery and although she had a few breathing issues
afterwards she did great and recovered.  The pediatrician said because
she had this heart problem to have her genetically tested for Turner or
Williams Syndrome.  I checked into a couple of them online, but didn’t
think at the time that she had anything like that.  But I am glad we
went – we walked into the clinic and as we were being led to an exam
room several doctors walked past and of course were looking at Abby.  A
few minutes later the resident came in and said that just by looking at
Abby in the hallway the doctor was 99.9% sure she had Williams Syndrome!
So we had her tested and I guess you know how that turned out LOL 🙂
We are so proud of her, she has come so far in just a few years and
although her developmental delays are hard, everything new she does is
such a joy for me because I know she fights SO much harder than most
kids to learn.  She is such a loving child, she’s our little caretaker
and loves to play doctor and she loves the Wiggles and Veggie Tales.
She does everything on her own time and we just have to wait on her to
be ready.  Forcing her to do things just doesn’t work, so we are slowly
working on potty training right now – but she is just not there yet and I
know when she is she will just do it 🙂  Abby is very healthy except
for bad ear infections and sinus problems (just like mommy 🙁   The only
other problem we have had is terrible constipation when she was born,
but at 6 months the pediatrician put her on Benefiber and she’s been on
it ever since and we haven’t had any problems as long as we give her the
dose every day 🙂  I swear by that stuff because it’s worked so well
for her!!

I am a work-at-home mom right now and Abby is in
Early Intervention Pre-School and is getting ready to go into Special
Education Kindergarten this fall!!!  I am so excited for her and I can’t
wait 🙂  She does so well in school and loves it, she started 2 years
ago and I thought she would have a fit when she had to get on the little
bus and leave me every day.  Again she surprised me – she got on and
never had one problem – never cried at all.  Everyone just adores her,
but I find that it’s grandparents/elderly that REALLY find her so
adorable.  She attempts to play with other kids sometimes, but they are
standoffish with her – it doesn’t really bother her much now she just
goes and finds something else to do!  But she is such a wonderful child
and just like other WS children she has a magnetic charm that draws
people to her 🙂  So that’s our story!!  Just enjoying watching her grow
and learn everyday.

I
guess, I’ll go second. 🙂 Per Kelly’s request….my name is Tricia
Heyde, and I have a 3 year old little girl with WS, she has an older
brother Aidan who is 5, he’ll be six in May!! 🙂 Kendal was diagnosed at
20 months old, and I can’t tell you what a sense of relief and sadness
it was. I was over joyed that they finally figured out what was wrong
with my precious baby girl, but so scared of the unknown. It took me
awhile to adjust to the idea of her having WS, but now I wouldn’t have
it any other way. I love her more then anything in this entire world,
she IS my life. Kendal is delayed like most WS children her age, but she
is doing very well. I have to say, that I feel very blessed that she is
healthy, and most days very happy.

It was such a rough road in the beginning, with the constant
crying, constipation, reflux, slow weight gain etc. At one point I
stopped worrying, because the pediatrician said, we were doing
everything we could be doing for her up to that point. Then all the
sudden at her 15 month check up, she said I think its time to see the
Developmental team at Riley. I was so scared, but they are an amazing
team of doctors, and within minutes they gave us hope. I remember
sitting there thinking, wow, all this time, my gut was right. I knew
from the minute I had Kendal that something wasn’t right. She was so
much smaller then her brother, and she was full term. I looked at her
with such joy, but at the same time, she just didn’t look right. She
looked premature, and that’s what we thought for a long time. Everyone
thought that, and I got so tired of saying, no she was only 6 days
early!!

We have come so far, and she is really doing amazing!!
I love that she attends a developmental preschool, and that she is
simply loved by everyone. I love that I have the support I have with the
WS support group, and now our new family with you all. I look forward
to hearing about everyone’s journey and our kiddo’s getting to know each
other. 🙂

Per
Kelley’s request…my name is Becki Poortinga and my little guy is
Jacob and he is 7 years old. He will be 8 in May. I met my husband when
Jacob was 18 months old. He had just found out that Jacob had WS, so we
have pretty much gone through this whole journey with Jacob as a couple.
Jacob lived with his biological mom until he was 4. At that time, we
became the custodial parents and I gave up my career to be the best mom
that I could be for him and his older brother, Josh. Up to this point,
the journey has had its ups and downs. Jacob is nonverbal and everything
is a mystery. I have learned a lot over the years about his moods. His
moods dictate how he is feeling…if he is smiling and laughing, than he
is happy. If he is flat out mean and aggressive, than we need to see
the doctor. Everything in between is
gray matter. We are blessed to have such a great team of the most
intelligent, intuitive doctors that I have ever met who have provided
the best treatment for Jacob’s needs. Jacob absolutely adores his
medical team and I have the utmost respect for them. When he lived with
his mom, he went to Childrens in Chicago and they treated the illness,
not Jacob. The team at University of Chicago treat the patient and I
think that is why Jacob no longer has anxiety about seeing doctors. Our
journey has been quite unconventional,  but I wouldn’t change a thing,
no matter what! I have enjoyed caring for Jacob and sharing his trials
and triumphs with him. I thank God everyday for bringing my three men,
especially Jacob, into my life. He has taught me so much over the years,
and for that, I cannot ever repay him.
Here
is our story: I had a completely normal pregnancy up to 28 weeks. I am
an ultrasound tech, and while allowing some students at a local college
to practice their scanning skills, we discovered that my daughter was
measuring two weeks behind. I went to my OB doctor and asked them to do a
Cord Doppler (to check the blood flow in the umbilical cord) and found
that my daughter was getting half the blood flow that she needed and
that at any point her blood supply could be cut off. I was rushed to a
hospital with a level 3 NICU, as my doctor believed I would be
delivering within a matter of hours. Long story short, I was on hospital
bed rest for six weeks and all the doctors thought my pregnancy was a
medical mystery. At 34 weeks, Marie-Claire was born via C-Section and
weighed 2lbs 12oz. I didn’t get to hold her until she was three days
old. All the doctors in the NICU thought that she looked “normal” and
that there was no need for any genetic testing. She did have a heart
mummer since birth, but that is very common in premature babies, so this
didn’t really concern any of the doctors. After about 4 weeks in the
NICU, Marie-Claire was having a lot of trouble learning how to feed and
the doctors were still hearing the murmur. They finally decided that it
would be a good idea to do an echo. The pediatrician came in and told us
that our daughter had SVAS and pulmonary stenosis and that those heart
conditions tend to be linked with Williams syndrome. We had never heard
of WS before and I remembering thinking, are you crazy? Our daughter
doesn’t have a genetic disorder! All the tests came back and everyone
knows how that turned out! I was in shock. I cried straight for 3 days. I
was just so overwhelmed with Marie-Claire still being in the NICU and
then all this new information was just more then I could handle. I
remember holding her after we got the test results back feeling so
disconnected from her. After six weeks in the NICU, we got sent home.
Things got better after we were back in our own element and I began to
feel like a mommy. She was colicky from the day she came home, but it
started getting better around 8 months old. Marie-Claire’s heart has
been carefully watched since we discovered her moderate stenosis in the
NICU. At 9 months old, her cardiologist decided that it would be a good
idea if we did a heart cath.  We did the heart cath and the results
surprised everyone. As It turned out, my worst fear came true,
Marie-Claire’s heart was worse then anyone expected. We were scheduled
for open-heart surgery just a few days later. After her surgery the
surgeon came in to talk with us and told us that it was a good thing
that we did the surgery when we did because the condition of  our
daughter’s heart was at a place that “sudden death” is a concern. We are
so thankful that God has allowed us to have our little girl with us
here today. Our 13lb baby girl, just had her first birthday last week
and now that her heart can keep up with body, we are excited to see her
gain more weight and start reaching important milestones like eating
solid food and crawling.
Keith
was born on August 25, 2003 at 39 weeks. He weighted 5 lbs. and was my
third child. As soon as he was born, he was taken to the NICU because he
was not breathing on his own. On day 3, he was breathing better but
they told me something was wrong with his heart. We found out he had a
murmer and Pulmonary Stenosis. They referred us to a Cardiologist and we
were released after a week. Keith could not feed, he gagged on the
bottle and the formula just ran down his mouth. He never slept and he
screamed if I laid him down. I constantly had to rock him and he was
only calm if his body was straight up and down. So I slept in the
rocking chair every night holding him. Sleep is probably an
overstatement…there wasn’t much sleep the first two years. Keith
screamed constantly.There were many ER visits and visits to the
Pediatrician. They all told me it was just colic. When Keith was 12
months, the Pediatrician said he was officially “delayed” and
recommended PT, OT and Speech. I was absolutely shocked. I think I had
been living in denial. I came up with every excuse why he was missing
milestones. I then accepted it, but was on a mission to find out why he
wasn’t talking, or rolling over or eating or crawling. I took him to a
Developmental Pediatrician who could not figure it out, but felt it was
genetic so she referred us to a Geneticist when he was 16 months. The
Geneticist spent 5 minutes with Keith and said WS. She brought us
information on WS and showed us pictures of other kids with WS and I
knew immediately. Of course the FISH test came back positive. I was glad
to finally get a diagnosis so at least I knew what the future would
hold. I joined groups and talked to other parents but still felt like we
didn’t fit in. Keith was so much more delayed than the other kids. I
knew there were variations with WS, but Keith just did not fit the mold.
I still knew something else was going on. At age 3, I took him to see
Dr. Klein-Tasman and she confirmed that Keith was also on the Autism
Spectrum. That was my fear. We also discovered Keith had high blood
pressure and his anxiety was unbelievable at that time. He was hitting
himself in the face and screamed non-stop…..again. We got his blood
pressure regulated with medication and also put him on anxiety
medication. Last year when Keith turned 8, I took him to Wisconsin to
see Dr. Klein-Tasman again as I suspected that he was now full blown
Autism and not just on the Autism Spectrum. He was. Only 8% of the kids
with WS are on the Autism Spectrum and even fewer have full Autism. This
explained why Keith still was not talking in sentences, has poor eye
contact and fixates even more than most. His anxiety and blood pressure
are our biggest battles right now. We raised his meds again last week as
he was hitting himself in the face again. He is on 3 different blood
pressure medications and medication for his Reflux. His reflux still
wakes him 3-5 nights per week and I have to sit and hold him through the
night.
It’s been a long road, but I do thank God every day that he
does not have the heart issues that many of the kids do.
Developmentally, Keith is about 2 1/2 and still does not speak in
complete sentences and does not have reciprocal conversational skills.
We are not sure if he ever will. I love my little man and am so blessed
to be chosen as his mother.
Dawson,
was born on April 12, 2007 at 3lb.4oz, my pregnancy, was difficult. I
was first told that he had Downs Syndrome from my AFP test and then was
sent to a high risk specialist. I was 40 at the time so this wasn’t too
much of a suprise, what was a suprise was that the umbilical blood flow
in the cord wasnt good, I was immediately admitted into the hospital.
They gave  me steroids and  were  set to deliver at 1 pound 2 oz, the
doctor said it would be a miracle if he made it , and then said lets all
pray.  The prayers worked because after 2 weeks I was released and sent
home on bed rest.  I was induced early at 34 weeks and that is where
our journey truly began.  Dawson had the typical fussy, colic
associated with WS,being baby number five I knew something wasn’t right,
I was told he is just a premmie give
him time, still I knew.  At nine weeks he developed inginual hernias and
needed surgery, during the procedure he went into cardiac arrest,
everything that could go wrong did, I was heart broken, his kidneys were
failing, he need a transufusion, he developed a blood clot and needed
insulin to control his pancreas, Family and friends gathered from all
over to support us.  One month later we were released to go home. His
name means warrior so fitting ,he is my fighter. We were told he
arrested from a conditon called Long Qt, which does exist in my family
but is also commom in Williams Syndrome.  The genetic test never was
done until two years later after Dawson began showing signs of scolisos
another sign of Williams,  after two years of being told we had one
syndrome we were finally diagnosed. Truly it was a relief to put a name
to what was going on with him.  He is my heartbeat and I wouldn’t change
a thing. Dawson has made me who I am today, stronger, I fight harder.
Live sweeter..Scoliosis is our battle at this time we have major
decisions to make.  Dawson had an MRI almost two years ago to see the
progression and the pulse ox that should not be used in a MRI was left
on and his toe, his great left toe was burnt off and had to be
amputated, it has caused him an extra challenge to walk, but I am proud
to say he can run now,he overcame I have never been prouder…We fight
for our kids everyday. I came together with other families to start the
Williams Syndrome Family of Hope . We are about Familes helping
Families, friendship ,unity and a true place for each our kids to be the
spotlight..Our goal is to make everyone our our kids feel special work
on giving them extraordinary opportunities,,having fun along the
way…So proud to be the mom to Dawson..I am one lucky momma..Ps yes we
had horrible, awful reflux, prevacid helps, he still wakes at night at
times screaming , I have been told it is night terrors…sleep is
overrated I guess..Hope is an Open Heart!!!
My Madison’s story in a nutshell.At 20 weeks I had an ultrasound to determine the sex of this miracle
growing inside of me and found out more than I had expected. SHE had
cysts in one of her kidneys. I was referred to high risk who informed me
everything else looked good and this is actually quite common, nothing
to worry about. On January 5,2007 Emily Madison was born weighing in at
6lbs 8oz. She was perfect. She had a hard time breastfeeding and was
rather cranky, but otherwise perfect. Her pediatrician called me 5 days
later and informed me that her newborn screenings came back and her TSH
level was 425, normal is 33 or below. So she had to be started on
Synthroid ASAP to prevent mental retardation. At 2 weeks old we met with
the nephrologist who informed us her Multicystic kidney would
within a few months be only scar tissue but her other kidney would grow
to be twice the normal size to compensate. He also noticed she had a
heart murmur and referred us to a cardiologist to “rule out” heart
disease since she already had kidney and thyroid disease. He assured me
it was probably nothing but he just wanted to be on the safe side. So on
March 22 I took her to the cardiologist but rather than ruling out
heart disease it was instead confirmed. She had moderate Pulmonary
Stenosis as well as Aortic Stenosis. With much effort we saw a
geneticist the next week and the following week had a confirmed FISH
test. Today she is very healthy and happy!! Her kidney is double the
size as it should be, she takes synthroid everyday, her AS and PS has
completely corrected itself by the Grace of GOD. She is tiny at 35 lbs
and 5 yrs old but very feisty:) Developmentally she is about 3 1/2 yrs
old. She didn’t eat well until 3 yrs old, walked at 3 1/2 yrs, talking
clearly and a LOT at 5 yrs. Now our biggest challenge is potty training
and dealing with our joke of a school system. So blessed to be her
mother, she has taught me so much about life in just 5 years. So much I
never noticed until she came along. And though it is hard to watch her
struggle with things and it takes her many attempts before achieving
something, it just tastes that much sweeter when  she gets it. Every
little thing is so appreciated and nothing taken for granted. That’s a
blessing in my eyes and I feel for those who take for granted and never
even realize the little miracles and milestones they witness daily. Anywho, that is my Madybugs story thusfar, in a nutshell:)

Anthony
is my fourth son.  I said I was done at three sons but the Lord said
not.  I was kind of upset when I found out I was pregnant again.  Now I
can’t imagine my life without my sweet baby boy.  He is an amazing
blessing!  Anthony was born February 1, 2001 by an emergency C-section
because his heart rate dropped.  He was three weeks early and weighted 3
lbs. and 9 ozs.  He spend 29 day in the NICC unit due to his low birth
weight and feeding problems.  My pregnancy was pretty normal except that
the doctor kept changing my due date because my belly measured small.
Anthony has congenital scoliosis also.  I could tell the first time that
I saw him that his body was curved.  The doctor would not listen to me
and said he was fine.  When Anthony was nine months old he was
hospitalized with RSV.  The doctor that
read his chest x-ray asked me if I knew that he had scoliosis.  After
that we found a new pediatrician.. Anthony was also found to have a
underdeveloped kidney and duplicated urethras.  Our new pediatrician
told me that she believed something was the cause of Anthony’s various
health problems.  She sent us to a genetic testing.  The geneticist told
us that he  suspected Anthony had Williams Syndrome.  The fish test
confirmed it.  I remember the day that we got the results and the
sadness I experienced.  Anthony had disc fusion surgery and surgery to
remove the part of his kidney that did not develop.  He was on
antibiotics for five years because of bladder reflux.  He has been in
the body cast and wore a back brace for a while.  His heart has never
been a issue.  Thank God!  He had problems with his teeth and frequent
ear infections.  But as of today the only real health issue is his
scoliosis.  He may be needing back surgery in the near future.  I have
learned to take one day at a time and be thankful that things are not
worst.  Anthony is the sweetest, most loving child and I am thankful to
be his Mama!
My
name is Stephanie and our daughter is Danielle (4 1/2). Our story
starts with my husband and me wanting to do foster care.  We had our 3
sons and thought we had the resources to try fostering.  We asked for
something easy for our first experience to make sure we could add
another child into our lives. We got a call about a new baby we would
have for two or three months. When we got to the hospital, Danielle
looked so small, yet she weighed just over six pounds. We were told she
had a murmur and would need an echo to follow up in eight weeks. At our
first check up, she was not gaining weight so we started waking her to
feed her every two hours. After a week, she was gaining weight but began
projectile vomiting some feedings. Danielle ended up having surgery for
pyloric stenosis.  This may have helped
some but we still had to watch the amount we fed her. Danielle was an
extremely fussy baby and I felt she was not tracking, not smiling, and
behind overall.  The doctors were not too concerned.  At her echo, it
was determined she needed to go to Mayo for a heart cath. After the
procedure, the pediatric cardiologist told us it was likely she had
Williams Syndrome.  So, like so many others, we went without sleep for
many months and she cried almost nonstop. I remember some mornings, my
husband would find both Danielle and me crying!  Somewhere between 6 and
10 months, she became a happier and a bit better sleeper. We have done
the usual doctors appointments and have many hurdles.  Danielle’s
cardiologist said her case was one of the worse she had seen and be
prepared for her to need a heart and/or lung transplant. This year she
officially went from “severe” to “mild”!  Overall,she is one healthy
girl!  She is your typical Williams child. We all adore our daughter (
officially adopted August 2011)!  She reaches her milestones later than
her peers, but when she does, look out!
On
May 7th, 2010, I delievered a healthy, full term baby Eloise. At her
one month check up a heart murmur was detected. Eloise was rushed by
ambulance to USA Womens and Childrens Hospital for an EKG which revealed
a mild ventricular septum defect with a mild supravalvular pulmonary
stenosis. Our cardiologist was confident in her mild heart defects’
ability to heal on their own and her ablilty to live a normal life while
keeping an eye on her heart. 6 months later Eloise’s heart had almost
completely healed on its own:) However her reflux was getting
unbearable, her crankiness and light sleeping weren’t subsiding, and she
was not hitting milestones. All of these things on their own wouldn’t
cause me to be alarmed, and each was being treated individually (to no
avail). But I had a gut feeling that all
of these had to add up to something, and I was on mission to discover
what it was. Testing, doctors, all couldn’t give me an answer and we
began to work with Alabama Early Intervention to treat her developmental
delays. Just after Eloise’s first birthday, finally, after her MRI
showed nothing abnormal, our neurologist suggested that Eloise had the
facial features of a patient with Williams Syndrome. And that was it. We
of course googled, Web MD’d, and didn’t need any geneticist to tell us
what we knew to be true. After the FISH test and blood work, it was
official. I have to say that my reaction was peaceful. I was incredibly
thankful to finally have an answer, and that our answer was that Eloise
would be a) atypically sweet, b)possibly living with us forever:) !
c)probably very musical and d) sweet, sweet, sweet!. We are blessed that
Eloise has not had more problems, and are working diligently to help
her overcome the odds against her with OT, PT, and Speech Therapy. One
of the biggest surprises was the vast amount support I have found for
Williams Syndrome. I truly feel a part of a large family; one that is
loving, and that I feel blessed to be part of despite how we got here.
As a newly staying-at-home-mom, one of my part-time jobs has become
raising awareness. I am thankful for all of you and look forward to
meeting you and pressing on to help our sweet boys and girls…..You all
rock!!!

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