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.

 

 

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! ^_^
My
name is Stephanie and my daughter is Danielle.  Our story begins with
my husband and me deciding to try fostering.  We had three biological
boys and wanted to give it a try.  So, we wanted to start with something
easy and short term to see if this was for us.  We got a call about a
new baby with a heart murmur and drugs in her system. She would be with
us for two or three months.   We picked her up at the hospital and even
though she was just over 6 pounds, she looked so small!  At her first
check up, the dr said she was not gaining weight so we had to wake her
every two hours to feed her. After several days, the dr was content with
her weight gain.  At about 3weeks, she began to projective vomit so we
were working with her dr to get this under control( trying soy, limit
amount,etc). Danielle did this during a
visit with her biological mom and before we knew it, she had her in
surgery for pyloric stenosis!  All went well but did not really solve
the problem. Danielle began to cry constantly (until around 6 months)
and rarely slept. I also would say she wasn’t smiling,tracking, or doing
anything she should. The drs said it was probably due to drugs. At 3
months we went for an echo and they scheduled us to go to Mayo for a
heart cath. It was there, they diagnosed her Wiliams’s Syndrome.
Overall, Danielle has been very healthy and quite easy once we hit about
10 months. She sleeps fairly well( depending on the day). She takes
longer to hit her milestones, but when she does, LOOK OUT!  She is
delightful and beautiful and so much joy!   We are so proud of our
daughter ( we officially adopted her this past August after 4 1/2
years).
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.