Our Angel Ashly's Story

WELCOME TO ANGEL
ASHLY'S PAGE

This is my beautiful Ashly,
she is 9 yrs old, 4th grade

Ashly was born 12:30 pm on February 19, 1993
by c-section at Guam Naval Hospital, in Guam
She weighed 6 lbs and 14 oz and 17 3/4 inches
I was told she went into seizures and so they
did a lumbar puncture, to check for meningitis
She was placed on oxygen and antibiotic IV's
she developed 3 heart defects on her first day
I was told she would probably die that night
Somehow she fought and survived her first few
She also survived Guam's great 8.2 earthquake

Ashly grew normal in weight and height til she was 9 months
of age and though she crawled and walked at the normal ages
We realized then, as she had stopped growing, her development
stopped too. We started noticing her hands were not able to
bend or close, When she was almost 3, and moved to Arizona
we were just learning that something was really wrong, that
she probably had a rare storage disease and would die young

Ashly has many abnormalities in her bones, connective tissue, and her
joints. She is very short statured, with a size currently of 42 inches in
height and weighing about 45 lbs at 9 years old. She has a kyphosis in
the upper thorac, biconvexities of the thoracic vertebral column with
wide broad shaped spatulate ribs. She has both a pulmonary and aortic
stenosis, with a trace amount aortic valve and mitral valve insufficiency
She has mild contractures on both ankles, and has contractures on each
joint of all her fingers, bilaterally with nodules in the tendon sheaths.
She has Asthma and narrow airways so she suffers frequent respitory
illnesses that unfortunately turn into a pneumonia several times a year
She has severe delays in speech and language, a diagnosis of dyspraxia
and functions borderline mental retardation to severe delays in her over
all development in reading, Language, and communication skills. she is
3 years behind her peers. She has an IEP and receives OT, speech, & PT

Things I do for my hand therapy

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, thick
metacarpals and phalanges of all joints. extension contractures on all
finger joints, has excessive fibrocollageneous tissue accumulation with
an abnormal organization of collagen cells forming around tendons. has
significant amount of hypertrophy around volar plates and carpal tunnel

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

Several months ago our long search for the a diagnosis came to an end,
she was diagnosed with Geleophysic Dysplasia, a rare genetic disorder
thought to be another lysosomal storage disease type, with glycoprotein
metabolism errors, however. the genes involved has not been discovered.
She had been tested and evaluated repeatedly for mps and mucolipidoses
which are also known as a Lysosomal storage diseases. She does display
the similar clinical, physical, and radiologically symptoms similar to these
However all her tests for these enzymes were are normal biochemically

Geleophysic Dysplasia appears to be inherited as an autosomal recessive
condition thought to be around 1 in 200,000 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. They both have
short stature, very small hands and feet with joint stiffness in the fingers,
and some X-ray findings that look like a lysosomal storage disease. There
is Cardiac and respiratory involvement, developmental and speech delays
with chronic ear infections and hearing problems. It seems to accumulate a
mucopolysaccharide-like storage within the valves in the heart, the airway
(trachea) joints and liver. The overall Growth is guessed to about 4 - 4.5
feet. Growth hormone has not helped. Physical therapy can help with the
joint stiffness. Their heart valves can be slowly thickened over time. and
need to be followed by a cardiologist but may not be a problem until adult

Geleophysic Dysplasia Links

Geleophysic Dysplasia

Geleophysic dysplasia 7-year follow up

Geleophysic dysplasia a storage

Familial recurrence of geleophysic dysplasia

*231050 Geleophysic dysplasia

This is Freckles, Ashly's guardian friend
They are cohorts in crime together, along
with Emily. These little mischievous ones
are quite a handful, you know what I mean?