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This is the story of MaKayla. I had a fairly normal
pregnancy, until I was about 33 weeks along. I started to have
contractions and started to dilate to 2 cm. I was in early labor I knew I
was but since I was at the hospital and I didn't dilate past 2 cm they
shrugged it off to be false labor! Needless to say I was in and out of the
hospital for the next 6 weeks. I was finally taken in to be induced at 39
weeks because of the baby's size. After about 2 hours of labor MaKayla
started to show signs of stress. Her heart rate was racing and her oxygen
level was low. The doctor just shrugged that off too! He thought the
machine was broken, so they switched machines, and the same thing
happened. So after about 5 hours of this he said we have to do an
emergency c-section! So on December 18, 2001, I was the proud mother of a
10 lb. 2 ounce beautiful baby girl. My dreams we finally over I had the
Perfect baby girl that I always wanted! Well, I thought I did. When I
first laid eyes on her I knew something was wrong. Her eyes were wide set,
her ears were angled weird, her nose just wasn't right and MaKayla's heart
had a problem.
MaKayla had a Heart murmur to be exact. It fixed its self and then turned
into a heart irregularity. The Pediatrician referred us over to a
cardiologist at one months of age. The cardiologist then took chest x-rays
and lots of other tests but couldn't find anything wrong with her heart.
So he just told me to come back in six months. Six months later her heart
had fixed itself and I thought everything was over. That was until MaKayla
was eight months old and she was not progressing like her two other
brothers did. So I once again asked her pediatrician if he would send her
for genetics testing. And for the second time it was she is just a big
baby and will develop slower then Normal. I was fed up I wanted to see
another DR in the office so her 12 month check up I scheduled another DR.
Well, at 12 months DR Suriani asked why this child hadn't been tested.
There is something wrong and he could see that she looked like and acted
like a syndrome child. He wasn't going to go as far as Downs syndrome,
like I thought she was but there was something odd about her.
So in February 2003 we were off to Albany med to meet a Dr. David Clark. I
was so very nervous. He had explained what exactly they were going to do
and then did it. They ripped apart my child from head to toe. Everything
that was wrong was noted. Her weight was in the 50th percentile length was
50-60th percentile her head circumference was in the 75th percentile blood
pressure was normal. MaKayla's Eyes were subjectively wide set her inner
canthal distance was 3 cm, and her interpupillary distance was 5 cm and
her outer distance was 8 cm. She has a tendency of rubbing her eyes
frequently and also has excessive tearing. There was no evidence of
Glaucoma or cataracts. No epicanthal folds. But she would turn her head to
the left or right without tilting her head and appeared to be viewing
objects with what would be normally be peripheral vision.
Kayla's Ears were posteriorly rotated and borderline low set. In her mouth
she had 2 mandibular teeth, the palate was intact and there was no
sub-mucus cleft, Normal Uvula and the palate was arched but not considered
to be high. Her nose was normal and so were her neck, chest, abdomen,
genitalia and spine. What was noted was that her extremities limb length
was appropriate, the Palmer and planter creases were normal there was
lymphedema of the hands and feet but the fingers and toes were normally
formed? All joint mobility was appropriate no hip click. But
neurologically she had much decreased muscle tone and near absent reflexes
of the arms and legs. There was no clonus in ventral suspension, she had
weak muscle tone and had difficulty holding her head upright. The DR's
Impression was that she had multiple mild to moderate dysmorphic features
including hypertelorism, Lymphedema, and hypotonia among others. He
recommended that we have a chromosome analysis for deletions and
translocations. Neurologically or developmental assessment to better
quantitative the extent of her hypotonia as it relates to her
developmental delays.
So off we went to the lab were they drew blood and scheduled time for a
buccle smear and skin biopsy. In about 20 days MaKayla's test came back
positive for Mosaic Tetrasomy 12 p or otherwise known as Pallister Killian
syndrome. Her exact Cytogenetic Results were as followed 47,xx,+?i(12)
(p10) [1]/46,xx[49]. She was then analyzed and she is mildly affected with
this syndrome. She has 32% of her cells affected with the extra 12th
chromosome. We were told by her Genetics counselor that MaKayla's life
expectancy would be grave. She would never be able to walk, talk, be potty
trained, she didn't know how long she would live or what her life would be
like. She did read somewhere that there was a 40 year old with PKS. But
otherwise she couldn't tell me much. MaKayla was the first and only case
that they have ever diagnosed at Albany medical center in New York. Still
to today she remains to be the only case in our region.
I am writing this case story a year to the day that we got this diagnosis
and I have lots of wonderful things to throw your way! MaKayla was put
into the Early Intervention Program shortly after her diagnosis. She
receives Speech, PT, and Special education threw this program. My oh my I
have found the most wonderful people through this program! These people
have taken my daughter from what you have read so far to an almost normal
two year old. MaKayla is as of today 2/ 23/ 2004 and 26 months old, she is
walking with Very little support, Talking, starting to feed herself
crackers and finger foods, her cognitive development is at the 24-32 month
level, her language is lagging at 18 months but is developing very nicely,
her physical development is at the 18 month level too but that is just
because she is not walking unassisted but her PT says within the next
month we can expect that! So that will bump her up to a 24 month level! I
am thrilled with her development and couldn't explain why she is doing all
of this wonderful stuff that she technically should not be doing.
I am very grateful to all of those very special people who have come into
our lives with in this past year. I am very thankful to be a part of this
group and to be able to share MaKayla's milestones with you all. I am very
dedicated to this syndrome and I am working with Pam and Marion very
closely on developing lots of new data and new families to share in our
close knit community that we have. We are also working on getting this
syndrome out there and known by the medical professionals that don't know
about this, but are having to diagnose another family with it. We are
dedicated to make it known that not every child is affected with this
syndrome in the same ways and that it does make a difference in what they
tell you when you are being confronted with this for the first time. We
are trying to achieve an up-to-date database that all have access to.
While helping you with your fears and joys we are all learning so very
much and are so very thankful for you too! Please feel free to e-mail me
at
Hollsjazzy@aol.com
or
hollsjazzy@yahoo.com
Any time day or night I am here to help you with anything that I can!
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