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The Conformer


ICAN's Family Newsletter Spring 1998

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Message from the President

News from ICAN


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Hello! ICAN continues to grow and evolve with the support of families and professionals all working together to care for children with Anophthalmia/Microphthalmia (A/M). An example of this collaboration is the 1997 MARHGN grant that was awarded to ICAN and Albert Einstein Medical Center (AEMC) for the purpose of developing educational materials about A/M. On behalf of ICAN, I had the opportunity to present the projects made possible by this funding at the fall 1997 MARHGN Conference held in Washington D.C. Some of the projects sponsored by the grant monies included a Spring 1997 one day Family Workshop about A/M and the ICAN brochure designed for families and professionals.

There have been many exciting developments to pass on to you since the last issue of The Conformer. The first order of business is for you to mark your calendar for April 9-11, 1999. The Genetics Division of AEMC, in conjunction with ICAN, is happy to sponsor the first International Conference on Anophthalmia/Microphthalmia! This conference will reach out to families, educators and professionals to discuss educational, medical, surgical and day to day issues in the care of an individual with A/M. There will be lectures, workshops for parents, siblings and teens, as well as many opportuities to interact with other families. Our keynote speaker will be a lawyer from South Africa with bilateral Anophthalmia.

AEMC and ICAN have applied for a grant from the Mid-Atlantic Regional Human Genetics Network (MARHGN) to provide funding for the conference. The status of the grant as well as more details regarding the conference will be forthcoming. In the meanwhile, we would love to hear any suggestions you have for issues that you would like to see discussed at the conference. Please take a few minutes to complete the enclosed survey so that we will be able to plan the conference activities in accordance with the needs of our ICAN families.

The registry project, headed by Dr. Adele Schneider, is moving full speed ahead. Collaboration with DNA researchers has begun in an effort to determine the location of the gene, or genes, responsible for A/M. More research news inside!

Don't forget ICAN is now on the internet! The web page address is www.ioi.com/ican. Be sure to check it out! Updates about the conference will be placed on the web site.

                                 Sandy Gomberg, President ICAN

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Mark your calendar!

AEMC and ICAN announce the First International
Anophthalmia/Microphthalmia Conference
April 9-11, 1999
Philadelphia
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What we know so far


by Dr. Adele Schneider
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The poster presentation by AEMC at the 1997 American Society of Human Genetics Meeting in Baltimore represented a big step in the search for a cause for A/M. Data from the Registry was compiled and analyzed and the results are discussed by Dr. Schneider.

We reviewed our data on the first 41 completed A/M Registries and compaired several aspects of our study to the data published by Kallen et al. We had reviewed the article by Kallen et al. in the summer issur of The Conformer.

The table below summarizes the sexes of our group and gives an overview of the findings.

MALE

FEMALE

bilateral

21

11

-A/M only

9

2

-DD* only

3

2

-structural anomalies

1

1

-DD*+anomalies

8

6

unilateral

2

7

-A/M only

1

5

-DD* only

1

0

-structural anomilies

0

1

-DD*+ anomilies

0

1

*DD=developmental delay

Our data is different from that of others in several respects. We have a larger number of individuals in our registry who have only bilateral anophthalmia than were seen in Kallen's data, and our male group with isolated A/M is larger than in other descriptions. Although not statistically significant because of the small numbers, we think this may be an important observation. It could have implications for genetic counseling and recurrence risks, if it is borne out in future studies, as it may indicate X-linked as opposed to autosomal recessive inheritance. Studying genes involved in eye development will help greatly in sorting this out.

We also noted that females with bilateral anophthalmia seemed more likely to have associated anomalies and developmental delay. Most of the females with unilateral A/M had normal development and the sample of males with unilateral A/M was very small.

Analysis of six month intervals for location of birth of these 41 children demonstrated no geographic link, thus ruling out "clusters" in time and place among these particular children.

These preliminary findings underscore the importance of collecting data in a registry dedicated solely to individuals with A/M. Please join us in our ongoing pursuit of knowledge and send your completed registries to AEMC Genetics.

-page 2-

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Parents' Perspective


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This edition of Parents' Perspectives is actually asking the reader to share their perspectives with a family seeking some guidance from ICAN families. This request for advice comes from Pat Renfranz and David Blair and they write:

"Our 2 year old daughter Caroline is severly microphthalmic. She has had conformers in her orbits since she was about 6 weeks old, and they have greatly improved her eyelids etc. However, according to her oculoplastic surgeon and ocularist, her orbit are becoming quite deep, while the lid opening is not getting much larger. Both of them are strongly urging us to have the procedure called dermis fat implants performed. This would involve taking fat from her buttocks and transplanting some into each of her orbits. The idea is that the transplanted fat will continue to grow just as it would have on her bottom, helping to fill the orbit and applying pressure to stimulate growth. We do not know of any other children who have had this procedure performed. If you have decided for or against having this procedure done on your child and willing to offer us some advice, please contact us by 1) calling us collect. 2) E-mail at renfranz@bioscience.utah.edu, or 3) writing. We greatly appreciate any help you can offer."

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If you have a story which you would like to share
for Parents' Perspectives, or if you have a request for advice,
please contact AEMC.
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Where Do We Go From Here


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The poster presentation in October sparked interest from the medical community. AEMC has been contacted by the editor of a medical journal who would like to publish the data presented in Baltimore. We have also received calls from scientists and researchers who are looking for the genes involved in development of the eye. In an effort to encourage continued interest in this endeavor, AEMC has applied for a grant from the Albert Einstein Society. The grant would allow AEMC to act as a DNA clearinghouse in the search for the genes involved with A/M. The idea is that AEMC would coordinate consent forms and mail kits to families with brushes used to scrape the inside of the cheek for cells. The families would then mail the dry brushes in special envelopes to the appropriate lab where DNA would be extracted from the cells. AEMC Genetics would monitor the progress and results of gene testing.

This is a very exciting step in our effort to identify the gene or genes responsible for A/M. As more data on the genes involved in eye development becomes available to us, we hope the causes of A/M will be clarified. The data collected from the Registry is the cornerstone of our work. It is vitally important that the data we work with is complete and accurate. If you have not completed a Registry questionnaire and are interested in doing so, please contact AEMC at (215)456-8722 or aemcgenetics@icdc.com.

We will keep you up to date regarding the status of the grant to establish AEMC as the DNA clearing house for A/M research.

-page 3-

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What's New in the Literature


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AEMC has copies of the Fall 1997 issue of the Journal of Ophthalmic Prosthetics available for your purchase. This is the publication of the American Society of Ocularists. The journal dedicated this entire volume to Congenital Anophthalmia and it is an excellent source of information for parents and professionals. Some of the aricles in this issue include the following:

"Prosthetic and Surgical Management of Congenital Anophthalmia"

"Use of Dermis-Fat Graft as an Orbital Implant in Congenital Microphthalmia"

"Anophthalmia: Psychologic Implications of an Infant's First Visit to the Ocularist"

"Genetics of Anophthalmia/Microphthalmia"

If you are interested in purchasing the Journal of Ophthalmic Prosthetics, you may send a check for $25.00 payable to AEHN, Grant#4-4495 to the following address:

Albert Einstein Medical Center
c/o Genetics
5501 Old York Road, Levy 2 West Philadelphia, PA 19141

The $25.00 offer can only be extended to families and will benefit Ican. Professionals who would like to obtain a copy of the journal may contact ABI Professional Publications, P.O. Box 5243, Arlington, VA 22205.

Happy Birthday to the
following ICAN members!!

Megan Houston

January 3, 1991

Jodi Jones

March 4,1996

Benjamin Jacob

March 28,1995

Laurisa Lewinsky

April 12,1997

Samuel Edgar

May 1,1994

Michal Cote

May 28,1996

If you would like your child's birthday to appear in The Conformer, please contact AEMC at (215)456-8722.

-page 4-

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Living with Anophthalmia has
had its ups and downs


by Jamie Messinger
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Hello, my name is Jamie Messinger and I am 18 years old. I am currently attending Doane College in Nebraska. I was asked to write this article about how my life has been with anophthalmia. To tell the truth, I didn't fully understand what anophthalmia was until a few years ago. My parents or my doctors never really told me anything about it and I never seemed to bring up the topic. I used to always say, "Why me?" I could not figure out why this had to happen to me and to this day, I still can not answer that question.

Living with anophthalmia has not been the easiest task. When I was younger, in elementary school and junior high, I was teased and called many names by the other children, like"three eye dog" or even your everyday ugly. Those names hurt me. Those names were felt all through my body, starting with my toes, leading to my heart and ending at my mind. As the years went on, I started to ignore the name-calling, jokes and rude comments. My parents would always say, "Sticks and stones may break my bones but words will never hurt me." This saying will live in my heart throughout my life.

I always thought I was ugly because I was missing my eye. I used to think that I would never be as pretty as the little, cute, blonde girl with curly hair and blue eyes. Boys seemed to stay away from me bacause they, along with everyone else thought I was different. And some people just don't like other people who are different.

When I came to college, the names and jokes stopped but the stares didn't. Here in college I am starting to lead a whole new life. A life where I don't have to be scared about walking down the street or sidewalk and getting made fun of. I don't have to be frightened of going to class only to be the center of the jokes. In college, I an living a normal life, just like everyone else; everyone who has two eyes.

Don't get me wrong, life with anophthalmia has also been rewarding. I am the person I am today because of anophthalmia. In junoir high and high school, teachers asked me to give a little presentation on my eye. I immediately said yes. I was so excited. I was now the teacher and my fellow classmates were the students. I told them all I knew and I tried to answer all the questions they asked. At the end, they would applaud and I would smile. And sometimes, my teacher would take me out in the hall and give me a hug.

Whenever I have the chance to teach other people about my eye, I grab it. I love the opportunitity to tell people what has happened to me. I love that people ask me questions, even if they are dumb questions. I would rather they ask me questions than go behind my back and make up some false explanation. If I can help someone to understand what has happened to me, it makes me feel better about my situation. Some people have come up to me and asked me,"If you could, would you choose another life that doesn't have anophthalmia?" I would turn to them and say, "No." Like I stated previously, anophthalmia has shaped my life. Anophthalmia is part of my life and I don't think I would want to change that. I have learned to cope with anophthalmia with the help of my family and the excellent medical treatment of my doctors. So, if I could live another life or change this one right now, the only thing I might change is my hair color, maybe to a nice blond color.

My whole life I have had people coming up to me saying, "You can't do that, you don't have two eyes. Why don't you just go sit down and watch someone who can do it." When I hear those words, they make me fight harder. These words spark something in my mind to fight harder and to show those people that I can do it. People told me that I couldn't drive but here I am; I have been driving for three years with no problems.

continued on page 6

-page 5-

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Living with Anophthalmia...


continued
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People told me that I would not be able to play softball but I proved them wrong again. I have been playing softball since grade school. People told me that I would never amount to much because I have a disability but I have proven them wrong and I continue to prove them wrong each day.

Anophthalmia has laid one large bumpy and nasty road in my life. But I am halfway through the journey. I am struggling and fighting each day to get across that road and continue with my life.

Kids, here's a little message from me to you. When someone makes fun of you, turn your head and continue with what you are doing. Don't let them get to you. If they know that you are hurting, they will continue to hurt, but if you show that sticks and stones may break your bones but words will never hurt you, they will leave you alone. Show those kids that you are no different than they are. You may have different eyes than them but you are still like them because you have a heart, a mind, and feelings.

Parents and families, I can only tell you one thing to do for your chid or sibling. Love them and show them that you care. Stand by them and help them fight. Don't let anophthalmia or microphthalmia take over their life; let them instead defeat it.

If you have any further comments of questions, feel free to e-mail me at JLMessinger@doane.edu.

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Winner's Creed

If you think that you are beaten, you are;
If you think you dare not, you don't;
If you'd like to win but think you can't, it's almost a cinch you won't;
If you think you'll lose, you are lost;
For out in the world, we find success begins with a person's faith.
It's all in the state of the mind.
Life battles don't always go to the stronger or faster hand;
They go to the one who trusts in God and always thinks I can.

author unknown
Submitted by Jamie Messinger

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Funding provided by the Mid-Atlantic Region Human Genetics Network. This project was supported in part by Grant No. MCJ-421010, from the Maternal and Child Health Program (Title V, Social Security Act) Human Resources and Services Administration, Department of Health and Human Services.
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Albert Einstein Medical Center
Center for Developmental Medicine & Genetics
Levy 2 West
5501 Old York Road
Philadelphia, PA 19141

 

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