Ashley and Lori's Place - Diagnosis Timeline and Photos

 

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Ashley's Progeria diagnosis timeline information and photos

Date of Birth
Date: May 23,1991
Time: 9:43 PM
Weight: 6 lbs 4 oz
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July/91:
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 Ashley's condition.
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August 13/91:
Diagnosis of Scleroderma Morphia is made.
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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.
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April 28/92:
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 month old.
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.
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May 12/92:
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??
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October 12/92:
Diagnosis of Progeria is made. Finally, I am informed.
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November 12/92:
Genetics clinic.
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 not proptotic.
- Ears, simple helix but normal position and angle.
- No teeth as of yet.
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November 27/92:
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!!??
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Coming soon!
Medical Terms Defined:
* Scleroderma Morphia:
* Perioral Cyanosis:
* Atrial Septal Defect:
* Subcutaneous:
* Stabismus:
* Occipital:
* Proptotic:
* Simple helix:
* Fontanelle:

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1 year old	2 years old	4 years old	7 years old