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ASHLY'S GELEOPHYSIC
DYSPLASIA PAGE

Welcome!





butterflyashlybutterfly
This is my beautiful Ashly,
she is 18 yrs old, class of 2011




Hi, let me first start by introducing myself. My name is Shilo,
I'm the proud mother of a beautiful 18 year old young lady
her name is Ashly. She was born with Geleophysic Dysplasia
a rare genetic storage disease. resulting from mutations in,
the ADAMTSL2 gene and located on chromosome 9q34.2





tahiti rama's, dededo guamAshly 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 meningitis
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 10 years ago our long search for the a diagnosis came to an end,
she was diagnosed with Geleophysic Dysplasia, a rare storage disorder





halloweentransparentash 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 52 inches
in height and weighing about 98 lbs at 18 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.
Three months ago she had a femoral hip osteotomy where they surgically
put her femoral head back into the joint with a metal plate and screws.
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 graduation





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, & some Mild Mitral Valve Insufficiency.
She does has Asthma and narrow airways, she also has tracheomalacia
with laryngomalacia, so she has frequent respiratory illnesses that has
turned into pneumonia several times a year. However, due to the fact
of the extra tissue in the trachea, abuteral makes her breathing worse
She personally has to use Atrovent for an emergency rescue inhaler.





ashly22



She has severe speech and language delays, she's diagnosed of having
dyspraxia with abnormal phonetation & major sentence structure errors,
She's functioning about 5 years behind her peers in her development of
reading, spelling, Language arts, & communication skills. However,
when it comes to math she is in calculus, and she is a whiz in science
So she ranges from scores of severely delayed to above intelligence.





beadsThings I did for hand therapy:
make bead necklaces, play the
piano, roll play dough 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 a few experimental
surgeries on both her hands because she has claw hand deformity
her hands are unable to make a fist, & her fingers unable to bend.
She also has had to have carpal tunnel surgery twice in each wrist.
she also has had surgery for removal of ganglion cysts in her wrist

handsfacehandsa

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





Ashly went canoeing and rock
climbing at Girl scout camp in 3rd grade

rock climbingtransparentashly 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 accumulate 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 results from mutations in the ADAMTSL2 gene.
This gene provides instructions for making a protein whose function is
unclear. The protein is found in the extracellular matrix, which is the
intricate lattice of proteins and other molecules that forms in the spaces
between cells. Studies suggest that the ADAMTSL2 protein may play
a role in the microfibrillar network, which is an organized clustering
of thread-like filaments (called microfibrils) in the extracellular matrix.
This network provides strength & flexibility to tissues through the body.

Mutations found in the ADAMTSL2 protein likely change the protein's
3-dimensional structure. Through a process that is poorly understood,
ADAMTSL2 gene mutations alter the microfibrillar network in many
different tissues. Impairment of this essential network disrupts the
normal functions of cells, which likely contributes to the varied signs
and symptoms of geleophysic dysplasia. Researchers are working to
determine how the mutations in the ADAMTSL2 gene lead to short
stature, heart disease, and the other features of geleophysic dysplasia

Informtion from Geleophysic dysplasia Genetics Page





Geleophysic Dysplasia Links

CTGT Geleophysic Dysplasia

Geleophysic dysplasia report on 2 sibs

ADAMTSL2 mutations

#231050 geleophysic dysplasia

Geleophysic Dysplasia adamsl2 mutations





ashlys world of wondersGeleophysic 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.

Facebook online Geleophysic Support group





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









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