My Ashly's rare skeletal dysplasia Page

ASHLY'S GELEOPHYSIC
DYSPLASIA PAGE

Welcome!

This is my beautiful Ashly,
she is 10 yrs old, 4th grade

Hi, let me first start by introducing myself. My name is
Shilo, I'm the proud mother of a beautiful sweet 10 year
old little girl, whose name is Ashly. She was born with
Geleophysic Dysplasia, a rare disorder thought to be a
metabolic storage disease. gene hasn't been traced yet.

Ashly was born 12:30 pm on February 19, 1993
by c-section at the Guam Naval Hospital, Guam,
She weighed 6 lbs 14 ounces & 17 3/4 inches tall
I was told she went into seizures and so they did
a lumbar puncture, to check for spinal menenginitis
She was placed on oxygen and two antibiotic iv's
she developed three heart defects on her first day
I was told she would probably die that night, but
somehow she fought and survived her first weeks
She also survived Guam's great 8. 2 earthquake

Ashly grew normal in both weight and height until she was 9 months
of age. She spoke her first words, crawled, and walked at a normal age
then out of nowhere she stopped growing and so did her development
it was like she was at a complete stand still in every aspect of growth
We started noticing her fingers were not able to bend or close, When
she was almost 28 months or so, and still by this time she didn't grow
She and I moved to Arizona after my divorce, and we finally got to see
a few specialists and had full skeletal x-rays done, the results of those
x-rays suggested she had mucopolysaccharidoses, Lysosomal Storage
Disorder, and so we tested for all those disorders, they were all negative
It was very frusterating, having negative tests inspite of her symptoms.
Several months ago our long search for the a diagnosis came to an end,
she was diagnosed with Geleophysic Dysplasia, a rare disorder thought
to be a lysosomal storage disease with glycoprotein metabolism errors
however the genes or chromosomes involved has not been discovered

halloween ash months old

Ashly has many abnormalities in her bones, connective tissue, and in
her joints. She's very short statured, with a size currently of 43 inches
in height and weighing about 53 lbs at 10 years old. She has kyphosis
of the upper thoraic and biconvexities of thoraic vertebral column, with
wide, broad - shaped spatulate ribs. Her femoral hip plate isn't covered
fully by the acetabulem by 25% on the left side, with 35 - 45% on right.
She has mild contractures on both her ankles and contractures on each
joint of all her fingers, bilaterally, with nodules in the tendon sheaths.

Ashly developed several heart murmur defects the day she was born
She has pulmonary stenosis and aortic stenosis with a trace amount
of aortic valve insufficiency, and some mild mitral valve insufficiency.
She needs antibiotics before dental work to prevent heart infections.
She has Asthma and narrow airways, so she has frequent respiratory
illnesses that unfortunately turn into pneumonia several times a year.
She's also developed an enlarged spleen and liver over this past year.

She has severe speech and language delays, she's diagnosed of having
dyspraxia with abnormal phonetation & major sentence structure errors,
She's functioning about 3 years behind her peers in her development of
reading, spelling, Language arts, & communication skills. So she ranges
from having scores of severely delayed to borderline mental retardation.
She requires special education in reading, spelling, Language arts, math,
as apart of her IEP, she also receives speech, occupational & pt therapy.

Things I do for hand therapy:
make bead necklaces, play the
piano, roll playdough using a
rolling pin, open and closing
clothes pins with my thumb &
first finger. It helps only a little,
because my fingers are very stiff.
I've learned to adapt my grip so
so I can use a spoon to eat with
and in grasping a pencil to write
It was hard to learn to use them.

Here is a few photo's for you to view, we did an experimental
surgery on the left hand because she has claw hand deformity
her hands are unable to make a fist, and fingers unable to bend

Description of Ashly's hand abnormalities
camptodactyl bilaterally of digits 2,3 and 4. a distal tapering of
digits. especially thumbs digit #2,3, mild fifth digit clinodactyl
present. thickened metacarpals and phalanges of all joints. extension
contractures on all finger joints, has excessive fibrocollageneous
tissue accumulation-with abnormal organization of collagen cells
forming around tendons. has a significant amount of hypertrophy
around volar plates. unable to flex at pip joints bilaterally

Ashly went canoeing and rock
climbing at Girl scout camp in May

rock climbing ashly canoeing at camp

Geleophysic Dysplasia

Geleophysic Dysplasia appears to be inherited as an autosomal recessive
condition. Appearing to be no more common than 1 in 200,000 live births.
There seems to be 2 different types based on facial appearance. The more
classic type has prominent cheeks while the other type has a flatter face.
Both types have short stature, very small hands and feet with stiff joints
in the fingers and some X-ray findings that look like a lysosomal storage
disease.It seems to accummulate a mucopolysaccharide-like storage with
in the valves in the heart, narrowing the airways (trachea) , joints & liver.
Their heart valves can be slowly thickened over time, so they need to be
followed by a cardiologist. It may not be a problem until they're an adult.
The overall Growth is guessed to be around 4 to 4.5 feet tall. Taking the
growth hormone has not helped any. Physical therapy can help with the
joint stiffness. Some may have hearing problems, due to the chronic ear
infections that could contribute both developmental and speech delays

Geleophysic Dysplasia Links

Geleophysic Dysplasia

Geleophysic dysplasia 7-year follow up

Geleophysic dysplasia a storage

Familial recurrence of geleophysic dysplasia

*231050 Geleophysic dysplasia

Geleophysic Support
This is my online support group for all
families and or medical professionals
who have a child diagnosed with or is
suspected of Geleophysic Dysplasia.

Please feel free to visit our other Medical Pages
we have a large variety of other Medical resources

Loads of Medical Links and Resources
Here you will find a variety of medical resources related
to rare genetic disorders, metabolic diseases, tetragens,
enzyme replacement therapy, and other related issues

Tons of Medical Links
Here you will find links to wish foundations, medical
air transportation charities, medical information for
asthma, ear infections, heart defects, and a lot more

Parent Support Links
Here you will find a large variety of parent support
resources for special needs & health message boards,
parent support organizations, & other support groups

Ashly's Medical Searches
Here you will find our medical search engine boxes to
Hon, Medline, Med Explorer, RX list for easy research
we also have links to online medical journals & sites

Ashly, skeletal dysplasia, etc
Bandaids and Blackboards has published a wonderful
page telling Ashly's story, an 8 year olds point of view
of what its like to have a disability, and her problems