Hi my name is Jane Young and I am the founder of FEVR.NET, pharm a web site based in now Pompano Beach, site Florida, USA, and dedicated to the eye disease Familial Exudative Vitreoretinopathy (FEVR).  On this page you can share your story with others by e-mailing your story to youngja@fevr.net.  I will post it here or if you wish you can use the FEVR Yahoo bulletin board link to share your story.  You can identify your self any way you want (first name, last name, both first and last name, e-mail address, or no identifiable info.)  I wanted to have a story page so that patients of this rare disease know that they are not alone.  Your story may help others.

This is my story:

     I have had FEVR since I was born (seen by Dr Parks) but I didn’t have dramatic symptoms until I was nine.   I had a retinal fold in my left eye at birth, a common occurrence in FEVR patients.  My mom says that when she would walk me up and down the hallway I would react to one of the lights when it was on the right but not when it was on the left.  She had me examined at 3 months.  She was very sensitive to potential eye problems since after she had my older brother.  My older brother (10 years older) was born with retinal folds in both eyes causing him to be legally blind at birth.  By the time he was a teenager he had lost his site entirely.  I had surgery at age 11 months to have a mussel clipped to straighten my eyes.  I had 20/400 sight in my left eye with the retina fold and 20/40 in my right  Nine years later during one hot summer day I woke up seeing shadowy wiggly worm like lines floating in my vision.  I told my mom and we visited my eye doctor.  He sent me to what is now called The Retina Group of Washington.  Dr. Gilbert (now retired) there told me that the lines were caused by minute vitreous hemorrhages.  I was seeing the blood from this bleeding.  Like many with FEVR showing symptoms during the 1970’s or earlier, a name for my problems was not known.  It wasn’t until the 1980’s that I heard the name, "FEVR."  I never realized how important it was to name a disease.  I was scared because of my brother’s blindness and felt alone.  I was the only kid ever in the office and Dr. Gilbert had no other FEVR patients.  I was restricted from doing gym or playing soccer.  I felt like Rudolf the Reindeer.  They were afraid of having any type of ball hit my eye or having impact increase the risk of retina detachment.  There was no hope for my brother.  The 2 surgeries he had were incredibly invasive and a complete shot in the dark.  They were, what I would call, barbaric.  But now there were new, on the edge, treatments with the laser and fiber optics just out of the experimental stage.  Thinking back I am mad that they didn’t substitute activities instead of just telling me what I can’t do.  Sports are an important way of keeping physically in shape especially when you will spend a lot of time in the OR.  As well as health it plays an important role in social development which was and is still I believe completely missing in the treatment of FEVR.  Non-impact or non-small ball sports and sports where low vision persons can participate are very important for social development.  Some example are Track, Karate, Swimming, bowling, Wrestling, etc.   Pre-Op and Post-Op mental health care was not included in my treatment.  This lead to an increasing level of depression and unseen harm which I am still struggling with.  Additionally, unknown to me at the time because of repression, I experienced Anesthesia Awareness, a horrible situation where you are given a paralytic drug along with your anesthesia drugs which are suppose to put you asleep and stop any pain but the truth is that if you are paralyzed the doctors don’t have any way to tell if you are asleep.  Anethesa Awareness is when the medication to put you asleep doesn’t work for some reason and you find yourself awake for the entire or part of the operation.  This happened to me twice and as a result I now have Post Tramatic Stress Disorder (PTSD).  You can find out more about this problem at the website http://www.anesthesiaawareness.com/index.html .

     I spent the next 12 years having over 20 surgeries fighting FEVR.  I had on both eyes laser photocoagulation, spot freezing, scleral buckling, scleral resection and vitrectomy sometime multiple times.  I had retinal detachments, glaucoma, macular hole, cataracts, retinal fold present at birth, traction of retinal vessel, abnormal blood vessel growth and  minute vitreous hemorrhages. I now have 20/400 in left eye after a recent (Dec 2007) glacoma surgery and 20/200 my right eye.  At the age of 21 the disease stopped progressing and was stable up to 2002.  It has slowly started progressing again and I am now back fighting it.  There has been questions about whether FEVR stops completely progressing and I have asked many doctors about this.  The best answer is that FEVR is a life long disease.

     Although legally blind I attended a junior college for a few years studying biomedical engineering.  I took biology and genetics courses to help me better understand the genetics of FEVR.  I had been told by some that this disease was a dominant disease but I knew that was wrong in my case and finally in 2006 proved that in my case I carry the recessive gene with the help of NIH finding the mutation that caused FEVR in both my brother and I and recent publication showing the exact mutation being recessive.  I was accepted into the mechanical engineering department at the University of Maryland College Park.  At the time it was ranked 13 in the nation for engineering.  Now I believe it is something like 4th.  I couldn’t take as many classes during each semester as the rest of the students were taking and struggled with teachers to get them to help me.   One teacher didn’t want to give me any extra time to take the test since I read slower than the other students and one teacher only wanted to put the answers to homework on the hall wall behind glass, high, where students would have to read it at a distance and copy the answers by hand.  Well, our class started out with 400 students but in the end I was 1 of only about 100 to graduate.  I got a full time job as a research engineer with the Navy at the Naval Surface Warfare Center in Bethesda Maryland, USA.  I mostly work on keeping our submarines and surface ships quiet.  I continued with my schooling and got a masters in acoustic engineering from Catholic University and took some of my course work at Penn State University where I did some post grad additional work.  I also put some of my biology background to work studying the effects of underwater noise on marine mammals and fish which I foud the most fun. 

     In 2004 I was sent to Alaska with a team to prove a new type of underwater sensor.  I was under a lot of pressure and got little sleep during seven days and also caught a flu.  I woke up one morning thinking that I was better from the flu but found that I couldn’t move with out all of my joints in my body screaming in pain.  I knew something was really wrong.  After almost a year of testing with nothing showing up I was diagnosed with Fibromyalgia.  Basically my nervous system just gave out and collapsed.  I tried to work but it made things worse and finally had to retire under disability.  One month before I left the Navy I starting seeing lights stream across my right eye and today know that my eye disease is progressing again slowly.  I sold my house and moved to where I have always wanted to live, renting a condo on the beach in Florida.  I now am focused on getting my body back in shape.  I now spend my time trying to get better physically after a long 3 year slide downwards.  My life is up and down but at least I have more time to spend on this website and I like studying Buddhism which reminds me that nothing stays the same from one moment to another and that we must focus on the present moment.  Easer said than done.  It also teaches to smile and keep courage alive as one steps into the future.  I paint, swim am helping HOSPICE of South Florida and count every day I have some eyesight a blessing.  I have talking books which keep me sane and take one day at a time. 

 

Hi,

I am not sure who this message will reach, but I hope that it is an encouragement to all of you. I had a normal pregnancy and great delivery.  

Hannah was born a healthy 9lbs. 2oz. The day after she was born, they told us that she might have congenital cataracts; bilaterally. We went down to Riley Children’s Hospital in Indianapolis when she was three days old.  We were then told that she either had FEVR or Coat’s Disease. Her Retinas were totally detached bilaterally.  At 3 weeks old we flew to Duke University to see Dr. Cynthia Toth.  We were hoping to have her retinas reattached. Dr.

Toth said that even if she did the most perfect surgery, she was not sure that it would give her any sight, because her retinas were not fully developed. We were told to go home and start raising her like any other child. Since Hannah was our first, we did not know any different anyway.

God gave me a promise in that hospital: "Even though Hannah is blind, her body is totally healthy! Nothing is wrong with her, she is not going to die." Those words have always brought me a peace of mind. We also went out to Philadelphia when Hannah was six months old to see Dr. Tazman at the Will’s Eye Institute. He too, said that there was nothing that they could do for her vision, but that her eyes looked stable. I told you all of that, to tell you where we are today.

Hannah is diagnosed with FEVR, but they are not 100% sure that is what she has. Regardless of her diagnosis, she is 100% blind. She is now 4 yrs. old and doing awesome. This is her second year of pre-school, and she can recognize 1/2 of the alphabet in Braille. She is very independent, and loves life. I will not lie; raising a child with a vision loss requires a lot of time and patience. But, the reward of your hard work is watching your child blossom. Hannah loves to swim and play at the park, and she loves amusement parks. The more thrilling the ride the better.

If you are parent of a child losing their sight, I know that it must be frightening. But, be so thankful for the time that your child got to see.

Being a parent of a totally blind child since birth; teaching her things would have been so much easier if she had had some sight. You would not believe how a little sight can help in mobility and orientation. Be thankful that your child got to "see" who you are. So many times we focus on the negatives going on around us, and we forget to treasure what they still have. Sight, for any amount of time, is a gift from God! I wish that Hannah could she, but she does not know any different. I have to remind myself that we can not feel sorry for her, because that will only handicap her.

Someone once asked a blind girl if she wished she could see. Her response has always stuck with me. She said, "The only reason I wish that I could see, is so that my mom would not be sad anymore." What a lesson that is for us as parents of blind children!!!! We need to empower our children, and not handicap them with pity.  If you have ever stayed at a Ronald McDonald House, or been in the Hospital with your child: you know that our children are the lucky ones!!! They will be living a totally happy and fulfilled life.

A great book to read is : "If you could see what I hear" by: Tim Sullivan

What an uplifting story he has.  I saw him on Oprah when Hannah was just a baby.

Do everything with your visually impaired child, that you do with every other sighted child. We took Hannah snow skiing for her 4th birthday and she loved it!!!!!!!!!!! There is a great place in Michigan called Challenge Mountain, and they teach any person with any dissability to ski–for free.

I hope that I have encouraged someone today, or even gave you a new perspective on things. It is not always easy, but God will never give you more than you can handle. Phillipians 4:13 reads: "I can do all things through Christ who strengthens me."

Have a great day, and I would love to keep in contact-

Rebekah Hubley–Hannah’s mom

 

Share your story.  e-mail me at youngja@fevr.net and I will post it here.

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