First off, we are foster parents about to begin the adoption process with our
daughter in February. Her background in the biological home was sexual & mental
abuse and gross neglect. She also witnessed ritualistic, physical abuse against
both her older siblings. This went on for 13 years with both parents as
participants. She was 10 years old when she came to live with us (from a state
mental institution.) She was completely misdiagnosed. We just received the
official confirmation of diagnosis from the geneticists last week. In the
beginning they thought she was several mentally retarded with autism. Mom has
mental illness and believed anything medical (even over-the-counter medicines)
were evil. She needed glasses and bi-lateral hearing aids, along with intensive
speech and psychotherapy. All that to come to the present. She's doing
extremely well. Four years ago she couldn't even identify all the letters of
the alphabet, now she's reading at a fourth grade level. She's
also doing grade level (7th) math. She's mainstreamed in school with a
one-to-one aid to help her with communication. It's still sometimes difficult
to understand what she's saying. If you're not used to talking with her it's
very difficult. We're about to do a 3rd physiological where we expect her to
test with an average IQ. We're guessing it will be in the 70-80 range. There's
always been a guesting of her cognitive skills be like her IQ we're realizing
more and more that her deficits in those areas are probably due to developmental
delays because of her background.



Now to ask your question again, "What is the potential impact of this
exceptionally on the child's experiences in the family?" Now that she's finally
learning to talk we are facing the reality of her loosing her hearing and sight!
At the end of this email I'll copy to you what I call her "medical description."
With a formal diagnosis in hand I am beginning to do research on how we can
prepare her to be functional in the future. As a family we're all going to
learn braille and sign in the hand. I'm just beginning to find out about
equipment and resources available to deaf/blind people.



Our daughter is very artistic. One goal I have is to set her up with a
potters wheel and kiln. I want her to be able to sculpt. She's does great
paintings with acrylic and oil paints and has surprised us what she could do
with Play-do!



As a parent, it is heartbreaking to see how far she's come only to realize it's
going to get worse. We're thankful to God for giving her to us. She's blessed
our lives in incredible ways.



Because she is still a ward of the state, I cannot give you her name.
Especially for publication. I don't mind staying in touch if you have specific
questions. If you do use her in your study, I would very much like to have a
copy of it in the end.



Here's her medical description:



-Advanced Bone Age

-Craniofacial Dysmorphia (Severe mid-face hypoplasia; malar hypoplasia)

-high forehead, low post-hairline, coarse hair, prominent forehead

-Ear length 6 cm

-Throat & mouth: prognathism, philtrum development present, palate intact, some
facial asymmetry when opening mouth

-Nose short, flattened nasal bridge

-palm 10.4, hand 18l0; +/- distal clinodactyly. Thumbs shortened distally with
short nails. Birth father has same type thumbs.

-Neuro: mental retardation

-Negative Fetal Alcohol Syndrome

- social background of physical, mental, psychological and suspected sexual
abuse. Presently in foster home.

-small ear canals

-full thyroid

-thyroid nodular goiter by exam

-OCD & stress related symptoms

-submucous cleft pallet

-palatal mucousa is intact w/questionable microform bifid uvula

-speech hypernasal, no nasal emission

-moderate to severe hearing loss, bi-lateral hearing aids

-speech & language disorder

-developmental delay

-weight 70 kg(>95%) Length 166.5 (>75%) head circumference 56.5 cm (98%) weight
continues to increase. Length & head circumference remain constant.

-cranial nerve VII intact

-Tympanogram results within normal limits bilaterally

-normal chromosomes & Fragile X DNA

-Blood & urine screening for metabolic disorders negative

-Testing for Williams Syndrome & FISH analysis negative

-Genetic testing positive for Sticklers Syndrome

-Birth mother reportedly has mental illness (?) Schizophrenia. Paternal aunt
w/disabilities of unknown type.

-IQ: 71

Eyes:

-visual impairment 20/2000 w/o correction. Best w/correction 20/80.

-OD=-14.00+5.00x78 and OS=-15.00+4.50x60

-Refractive Amblyopia

-Fine nystagmus bilaterally

-Scattered white flecks appearing globular in nature in the lens cortex of both
eyes (cataracts)

bilateral canthal folds



I haven't yet seen the most current genetic test results. Along with the
specific testing for Sticklers they also did a lot of generic testing of other
specifics. They said all those came back negative or normal. Which means they
don't believe she has any diagnosable mental retardation or reason for cognitive
disabilities. So we're certainly praying with exposure and experience these
areas will continue to grow.



She's an awesome young lady. Two years ago she received an award at a formal
banquet for her achievement in eduction. She's come a long way and she still
has a long way to go.



Okay, my book is done. God luck with your project and I'm here if you have any
questions.



Lori Taylor

630-226-9055 home

630-747-5359 cell


jacquie mayes <jamay392002@...> wrote:
Hi Lori

Thank you for answering me. Yes I would be interesrted in your story, If you
could answer the question I put forward in my first letter that would be great.
I look forward to hearing from you and reading how this syndrome has effected
yourself and family.

Yours truly
Jacquie Mayes

Lori Taylor <daveloritaylor@...> wrote:
I think our case would be an example of the extreme. How the negative effects
of Sticklers can be exasperated when other socio/economic conditions are not
good. If you're interested, let me know.

jamay392002 <jamay392002@...> wrote: Hello everyone my name is Jacquie and
I am a student here in Calgary
Alberta and I am writing a paper on Stickler syndrome and I need some
information on how this syndrome has effect a person experince in
school(considering academic,social,emotional)What is the potential
impact of this exceptionality on the child's experinces in the family?
If any one would like to share their experinces with me I would
greatly appreiate it and will be giving credit in my references.

Once again thank you to all who answer
God Bless
Jacquie Mayes





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