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This is
Katie Busch
andnowtheres2@yahoo.com
Pottstown, PA
USA
My Struggle
In May 2002, my husband and I learned that we were pregnant
with our first child. The pregnancy was going great! I found myself reading
numerous books, as any 1st time mother would do and I followed all the
precautions to make sure my 1st pregnancy would be a success. We were excited
when we found out we were having a boy.
I had 2 false alarms already. Although the doctors thought I was fine and sent
me home, the next night I was back in the hospital due to me leaking water.
Examinations confirmed that indeed my membranes were ruptured. Third times the
charm they say. I was hospitalized due to premature rupture of the membranes
(meaning water breaking too soon). I received antibiotics, to prevent various
infections and heparin shots 2 x a day to prevent blood clots in my legs and I
was also put on the monitor 2 x a day. I was told they wanted to keep him in as
long as possible but this did not happen. Our little boy, Jacob, was born 6
weeks premature on the day after Christmas in 2002, that's 34 weeks gestation.
The NICU team was standing by just in case they needed to take him because he
tested positive for immature lungs. Our son amazed doctors with his loud cry. He
was well enough to go to what is called the Well-Baby Nursery. He had a little
bit of a rough start being jaundiced and underweight. Jacob weighed 4lbs 13oz
and 17.5 inches long. When I was released from the hospital, I was so upset and
devastated. I felt like I was abandoning my baby. Imagine seeing other mothers
and fathers taking their baby home and you can't because he is having some
problems. My little boy had to stay 2 extra days because of jaundice and weight
gain issues. He came home 2 days later. When he came home he needed to have a
"wallaby blanket"(photo therapy blanket) on him for his jaundice for about 1 1/2
weeks. He had no sucking reflexes so breastfeeding was difficult, we had to
syringe feed him for a couple days, he couldn't pass his bowels real well, we
had to help him. He is now 4 3/4 years old and developmentally delayed. Jacob
currently receives Speech Therapy, Occupational Therapy, Vision and Education.
Jacob has something called nystagmus, which is jerky movement of his left eye.
He visits an eye specialist. Jacob also was diagnosed with PDD and has Noonan
Syndrome.
PDD or pervasive developmental disorder is a behavioral disorder of speech,
communication, social interaction, and repetitive type compulsive behavior.
Autism is a form of PDD.
To Learn more about PDD please visit:
http://kidshealth.org/parent/positive/learning/p
ervasive_develop_disorders.html
Our daughter, Kylie, was born in March 2004. She was considered full term. Three
months after our daughter was born we started to notice strange symptoms swollen
legs, bluish face and extremities, fussiness, trouble breathing which I
suspected might be related to a heart murmur doctors had told me was innocent.
Her heart murmur was not innocent. Since our daughter was diagnosed with "just
an innocent murmur" at birth and it was totally overlooked until it became
critical, at 4 months of age she was diagnosed with 2 congenital heart defects
called pulmonary stenosis (her case was severe at the time), and atrial septal
defect. They are life-threatening without surgery. She had intervention done on
her Pulmonary Valve back in Sept 2004. Imagine your world turned upside down
when you find out that your child is born with a broken heart. All of a sudden
your hopes and dreams that you have for that child are questionable as you do
not know what is going to happen. Kylie currently has minimal blockage and the
hole in her heart. The hole is a smaller-sized hole, so they just want to watch
it for awhile since there are no health risk and there is a chance for it to
close on its own. She will need to take antibiotics for any surgical and dental
procedure. She will also continue to see her team of cardiologists and be
followed by the genetic department.
She currently receives Occupational Therapy, Physical Therapy, Speech,
Behavioural and Education. Both kids have what is called Sensory Integration
Dysfunction. Sensory Integration Dysfunction is the inability of the brain to
correctly process information brought in by the senses. Our little girl is
hypersensitive. The hypersensitive child will avoid being touched or touching
things when at all possible.
She also has been diagnosed with Noonan Syndrome. It is the second most common
genetic disorder after Down syndrome.
Noonan syndrome is a condition that can affect the heart, growth, and mental and
physical development. It is generally recognized by a heart valve defect present
at birth, short stature, droopy and wide set eyes, and low set ears. Features
that are often present include low hairline in the neck region, striking blue or
grey eyes, curly hair, and chest deformities. Affected children may have
behavioral and learning problems. The incidence is between 1 in 1000 to 2500
children.
Both of my children, have been through a lot. They have been through numerous
blood tests, x-rays, hospital stays, doctors visits and ER visits.
When
I Realized Things Needed to Change
I have learned to tell myself all the time, that babies are
not all born healthy, and whether they have 10 fingers and 10 toes is really not
so important. It's all just part of parenting. If you aren't willing to accept
having a child with a problem, you just shouldn't have kids because the odds are
there. Most people out there aren't taught this and until you have something hit
you up close in the face, you just aren't aware that it doesn't always go the
way you expect. We have learned and grown from our experience so far. When you
are hit with something like this, it doesn't mean we aren't good parents. It
just means that we are learning about something that no parent ever expects to
have to learn about. I have learned to appreciate life for what it is and that
nothing is guaranteed. As a parent of a preemie, now toddler, and a birth
defects toddler, especially one that almost didn?t receive intervention, I come
to realize that nothing can be taken for granted.
Finding out
about Noonan Syndrome
Myself, my son and my daughter we all have
Noonan Syndrome.
Our cardiologist diagnosed Kylie with Noonan
Syndrome and sent us to the genetic dept. to confirm it. After that, they tested
myself, my husband and Jacob.
Kylie is the only one with a heart defect.
She has PS & ASD. She rolled at approx. 8-9 months. Didnt sit until 17-18 mos
and didnt stand until 20 mos and didnt walk until 22 mos old. She receives
everything in therapy.
They both are short stature, developmental
delays, hyperterlorism(spaced eyes), frontal bossing(of forehead), possible
hypoplastic clavicles and smaller than average upper to lower segment ratio -
there's more but this is just to give you a few.
Kylie wasnt going to be tested for Noonans at
first. She was going to be tested for (CCD) Cleidocranial dysplasia which is an
autosomal dominant condition that in which affected individuals have short
stature, hypoplastic clavicles, delayed closure of fontanelles, delayed dental
eruption, frontal bossing and hypertelorism. However it would not explain her
heart defects or her delayed milestones so instead of her being a guinea pig I
wanted the PTPN11 gene testing done on Kylie. We found out on March 23 that
Kylie does indeed have Noonans. Myself and my son found out on July Monday the
10th.
Kylie was found to have a single base pair
subsitution G-->A within exon 7 of the PTPN11 gene on sequence analysis. The
PTPN11 gene is located on chromosome 12q24. This missence mutations(denoted
R265Q) is though to result in the replacement of the normal amnio acid, Arginine
with a different amino acid, Glutamine, which presumably alters the function of
the protein. Although this mutation is thought to be disease causing, the
specific genetic alteration is a novel mutation that have never been previously
reported in another patient with Noonan Syndrome.
When the kids had blood work done after
receiving the results it was spooky because of how close in comparsion their
blood work is. They could pass off as twins, LOL. They are 15 mos apart in age.
The Progress I've made
We had a difficult 3 +
years with the children?s conditions. My husband lost his job because of missing
work because of all the appointments we had to attend for both children. Since
then, he has found another job. The kindness and affection that my husband has
given me has been a foundation of love that will be cherished for all the years
to come. I know that there are ups and downs in any relationship. There are
times that are difficult. But I know, also, that any situation will endure the
test of time with a love as rare as ours! He offers me the promise of renewal,
the joy of living, the peace of mind that comes from sharing and caring, and
that shoulder to lean on in times of stress. Each breath, feeding and diaper
change is so important and meaningful -- at least to me. My kids are learning
new things everyday and they amaze me everyday.
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