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ASHLY'S GELEOPHYSIC
DYSPLASIA PAGE

Welcome!





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


Hi, let me first start by introducing myself. My name
is Shilo and I'm the proud mother of a beautiful sweet
9 year little old little girl, and her name is Ashly Renee.
Ashly was born with Geleophysic Dysplasia, which is
believed to be another rare lysosomal storage disorder





ashly 9 days oldAshly was born 12:30 pm on February 19, 1993
by c-section at Guam Naval Hospital, in 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, checking for meningintis
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 weight and height til she was 9 months
of age and though she crawled and walked at the normal ages
We learned then, as she 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





halloweentransparentash months old





Ashly has many abnormalities in her bones, connective tissue, and
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 pulmonary and aortic
stenosis, with a trace amount aortic valve and mitral valve stenosis

She has mild contractures on both ankles, and contractures on each
joint of all her fingers, bilaterally with nodules in the tendon sheaths
She has Asthma and narrow airways so she has frequent respiratory
illnesses that unfortunately turn into pneumonia several times a year

She has severe speech and language delays, a diagnosis of dyspraxia.
functioning from severely delayed to borderline mental retardation
in her development of reading, Language, and communication skills.
She has an IEP for special education and OT, speech, and PT therapy

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





beads Things I do for hand therapy
make bead necklaces, play on
piano, roll playdough with a
rolling pin, open & closing
clothes pins with my thumb and
first finger. It does help but,
my fingers are still very stiff




Ashly hand abnormalities are similar to a claw hand deformity
with the camptodactyl of digits (fingers) # 2, 3 & 4. on both hands
a distal tapering of digits #2, 3, especially in the thumbs on both
hands and a mild fifth digit clinodactyl present. She has thickened
metacarpals and phalanges of all her finger joints, in both hands
Yet she displays some very unusual characteristics that differ from
the typical claw hand abnormalities that you see in children with
a Mucopolysaccharidoses disorder or the other storage diseases.
She has extension contractures in every joint of all her fingers, as
well as nodules in and around the tendon sheaths in every finger
joint. Her biopsies showed an excessive fibrocollageneous tissue
accumulation with abnormal organization of collagen cells forming
around her tendons, significant amount of hypertrophy around the
volar plates, and a muscle wasting of her synovium tissues as well


handsface handsa




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

rock climbingashly canoeing at camp





Geleophysic Dysplasia

Geleophysic Dysplasia appears to be an autosomal recessive
disease thought to be around 1:200,000 births. There seems to be 2
different types based on facial appearance. The more classic type
prominent cheeks while the other type has a flatter face. both have
short stature, very small hands & feet with stiff joints in fingers
and some X-ray findings that look like a lysosomal storage disease.
It seems to accumulate a mucopolysaccharide-like storage within
the valves in the heart, narrow airways (trachea), joints and liver.
Their heart valves can be slowly thickened over time so they need to
be followed by a cardiologist but it may not be a problem until adult
The overall Growth is guessed to about 4 to 4.5 feet tall. Taking the
Growth hormone has not helped. Physical therapy can help with the
joint stiffness. May have hearing problems Due to the chronic ear
infections that could cause 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





ashlys world of wonders

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 having 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 medical resources for a variety of
rare genetic disorders, metabolic diseases, dwarfism,
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





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