Hereditary Blindness: Together We Can Bring Light Into People's Lives

7 years ago

 

I am a mother like many of you; a mother to three amazing children.  I have one adult son and two 5 year old children that were adopted from China.  One of them we adopted knowing that he had a special need and the other, our daughter Katie Starr,  was adopted through China’s non special needs program.  Katie was our first adoption and at the time we adopted her, we did not know yet the capacity that we had as a family to deal with special needs.  We now realize that we all have special needs; some are just more apparent than others.  Our beloved daughter, who we adopted as “Healthy”, has had a myriad of health issues with the most recent diagnosis delivering a sucker punch that we never saw coming.  Our Katie Starr was diagnosed last week with Cone-Rod Dystrophy;  a hereditary retinal disorder that will rob her of her sight and leave her in darkness.  First the cones in her eyes will be destroyed and thus her light and color perception and then the rods will follow which are for night and peripheral vision.  We do not have a time line but we understand that the earlier you are diagnosed then the chances are the earlier  the sight will ebb away.  It is a disease that would have had to have been passed on to her by both of her biological parents as carriers of the gene.  I am sure that since they did not have the disease and just carried the gene, it was without any knowledge on their part.  It is a rare disease; one of many such retinal disorders that remain without a cure.

Katie's sight issues began at birth but were deteceted almost three years ago,  Katie was diagnosed at the age of 2 1/2 with Amblyopia, which is where one eye is significantly weaker than the other. For the past 2 1/2 years we have been patching Katie's good eye on and off, in the hope of strengthening her weak eye. Each time we have patched for a period of time her eyesight improved, only to deteriorate during the months that it remained unpatched.

Two months ago, her eyes had weakened again and our wonderful Doctor, who is also a family friend, told us that we may have to patch again but that they would strengthen her lenses in the meantime in hopes that it would be enough of a fix that she could avoid the patch.  We returned a month ago and as we sat and observed the exam, my heart sank.  I knew that her eyesight had weakened further. The doctor was quite concerned and he dilated her eyes just to make sure that he was seeing the whole picture. When you dilate a young child's eyes, it is very difficult to really get the kind of visualization of the eye structure that you get with an adult, since they cannot hold the eye positions needed for very long during the examination.

My husband Marc and I had gone to the exam together (in separate cars) since I had to get to work earlier than he did and he was planning to take her to camp straight from the exam. Once the exam went longer than anticipated,  I left to get to work asking him to call me the minute that the exam was complete. The minutes ticked by and all of the sudden it was well over an hour since we were together. I knew something was wrong...I just felt it...

When I finally heard Marc's voice my fears were confirmed. The doctor was able to view the periphery of the retina and found evidence as to why Katie is not getting better. Unfortunately, it was not an answer that we wanted to hear. There were flecks of material on the far sides of the retina; yellow in color that led him to believe that she had an incurable eye disease but they needed to have a test run that would confirm his worst fears.
Our doctor referred us to the best eye institute in the country, which is in our own backyard here in South Florida. The doctor who we were referred to is considered to be one of the best retina specialists in the world. Katie was given a test under general anesthesia called an ERG (Electroretinography), which is like an EKG for the eye.  As soon as the test was complete, the doctor pulled us into a small room in the hospital to deliver the bad news.

The shock of Katie's diagnosis hit us immediately and though we are still quite stunned, our feelings have turned to sadness and even anger. If you know me at all, then you know I am not at all into feeling that way. Last evening I remembered that a friend that I made through the wonderful world of adoption had referred me a website to bookmark in case of such a diagnosis. She was kind enough to share with me the story of her father and uncles who suffered from the same hereditary affliction that robbed them all of their sight.  I looked at it a few times while I was waiting and saw that it held a wealth of info but put it aside until we were given the diagnosis a little over a week ago. The Foundation Fighting Blindness has a mission statement on their site...it is the following:

The urgent mission of the Foundation Fighting Blindness, Inc. is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa (RP), macular degeneration, Usher syndrome, and the entire spectrum of retinal degenerative diseases.

Katie's disease is Cone-Rod Dystrophy which falls under this umbrella of Retinitis Pigmentosa, a group of horrible hereditary diseases with no cure.

As I looked again at the website, I discovered something that I had not seen the first few times that I looked and that was a way for me and for my friends far and wide to not only help Katie Starr but any person who may be left totally in the dark due to a hereditary eye disease. The foundation holds 5K walks all over the country on different dates and the South Florida walk is October 23rd at 10:00 am in Fort Lauderdale. I have put together a team and in five days we have a team of people joining us to walk in solidarity but also over $4,000.00 in donations.

I have two goals in the forefront of my mind now.

The first one is to raise awareness and money to help fund the cutting edge scientific research that will surely one day bring about treatments and even a cure.  The research is based in stem cells which is unfortunately an area of research that’s federal funding is being threatened due to political posturing.  Long before this my position was pro stem cell research and now more than ever I realize how important it is to cure these hereditary diseases that lay within our DNA.

The second one is to assist our daughter with developing her mind's eye. We are going to expose her to as much as possible during this time that she has most of her sight still intact. In case a cure is not found in time, I want her to be able to tap into her memory resources. It will help her to form the mental pictures that will enhance her life. I have not developed that plan as of yet and I am sure it will be a work in progress. I really want to bring her back to China as soon as it is financially possible for us. We will make that happen....no doubt!

I ask you to join with us on our first goal and please share this information with others. Please link to my blog  so that your friends can read our story. Please facebook the info if you will and feel free to friend me if you choose to do so. Please comment that you would like to be my friend and I will give you my full name if you do not already know it. Please tweet it if you are on Twitter.  You can also share it on any online forums that you are a member of. Together, we can meet this goal. The goal will surely be met in our lifetime but we need it to happen quickly for Katie Starr.

This could have been any one's child. It has happened to our child though so I am asking for you to help us.

You can make a donation of ANY amount at the following link or join us for the walk: TEAM KATIE STARR

I also invite you to check out GuideStar that will allow you to verify this Non Profit Foundation.

Thank you so much for reading this and sharing it with others.  You never know who may read it and how it can alter the course of one little girl’s life and many others in her shoes.  As cliche as it sounds, together we can make a change and bring light into people's lives.

Lori Weinstock

Mom to three (one born from my body and two in my heart)

www.stressisthenewblack.blogspot.com

 

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