diagnosis timeline information and photos
Date of Birth
Date: May 23,1991
Time: 9:43 PM
Weight: 6 lbs 4 oz
At age of 2 months seen by a pediatrician for Scleroderma like skin changes and
Perioral Cyanosis. A diagnosis of ASD (atrial septal defect) is made and Ashley
is referred to a Cardiologist. Also a referral to a Dermatologist for the skin
'abnormality'. Genetics consultation however they had no explanation for
Diagnosis of Scleroderma Morphia is made.
At 8 months of age Ashley is referred back to the Genetics clinic by
Pediatrician who had inquired to them of Progeria being a possibility. (I find
out later that is was through an article in the Enquirer about Progeria that the
Pediatrician had seen, the baby picture of the child featured
looked remarkably like Ashley). At this time I am unaware of physicians concerns
or possible diagnosis. Pediatrician comments how she is 'struck' by the general
abnormality of Ashley's subcutaneous tissues. Very thin ear cartilage,
protuberant eyes and poor subcutaneous tissues in general. Pediatrician sends
Geneticist an excerpt from a genetics book which she says makes her even more
suspicious of Progeria being a possibility. I (Lori) have been advised by
Ashley's pediatrician that she would like to have Ashley reassessed.
Ashley is 11 months old.
Genetics specialists get back to pediatrician with the following information
regarding their exam of Ashley.
Growth: Height corresponds to a 7 month old. Weight corresponds to a 4
Head and Neck: -very tiny facial features with a very small nose and
turned up nares.
- Eyes prominent but bright and alert looking. No strabismus.
- prominent puffy-looking cheeks.
- Small jaw.
- Ears stick out and are prominent. They are very thin and lacking in
cartilage and elasticity.
- Hair, bald over occipital area but otherwise hair growth is normal.
- Antenor Fontanelle open and small.
- No teeth erupted as of yet.
Ashley is almost 1 year old.
Ashley is seen by a Cardiologist. He plans for surgery to close her ASD (hole in
the heart) if it does not close by itself by the age of 4.
Dermatologist is pleased with 'spontaneous' improvement regarding her 'Scleroderma'.
Genetics consultation: The question arises once again; Does or does not Ashley
fit the 'clinical' diagnosis of Progeria??
Diagnosis of Progeria is made. Finally, I am informed.
Growth: Height 73.3cm Weight 7.31kg.
Head and Neck: -Sparse hair which is also fine and there are very
prominent scalp veins.
- Forehead slighty prominent.
- Anterior fontanelle closed.
- Triangular face with full cheeks.
- Nose is small.
- Eyes, relatively prominent in relation to the smallness of midface but
- Ears, simple helix but normal position and angle.
- No teeth as of yet.
A Progeria Specialist from England had seen Ashley on November 17/92. The
specialist agrees completely with the diagnosis of Progeria, he has NO
suggestions, re: management or investigation. There are NO molecular markers for
progeria. Geneticist comments that Ashley will probably require dentures and a
wig to help improve her appearance!!??
Medical Terms Defined:
* Scleroderma Morphia:
* Perioral Cyanosis:
* Atrial Septal Defect:
* Simple helix:
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3 days old
3 months old
6 months old
1 year old
2 years old
4 years old
7 years old