How it all started

For those of you who know us well, our son, Nomaan, now almost six, has struggled with a genetic condition known as Lebers Congenital Amaurosis since he was born. For years, we have been trying to get him into a clinical trial, that can change the course of his life. Many of you have been keeping up on this quest. And recently, in the Month of Ramadan, we received some good news. 

I am no writer, and I am not that computer savvy, but as Nomi begins this journey, many of you will want to follow his progress. So at the advice of a friend of mine,  Ryan, I have decided to start a blog, that will allow people to check in, and see how he is doing. They can leave him well wishes, and keep him in their prayers. And, perhaps one day, he will look back upon this blog and see if and how his life changed.

If  you haven't been following, in order to get you up to speed, I have to start at the beginning... before he was even born.

Nomaan was born on the first of October, 2007. He was a healthy 7.5 lbs. When he arrived in this world, Beenish and I were extremely happy and relieved. You see, because of the many health problems Beenish had, this was a high risk pregnancy. In addition to regular OBGYN visits, Beenish had to also visit a neonatologist. Beenish's health problems all stem from a gun shot wound she received while we were travelling abroad. That is another, long, long story. Needless to say, we are very blessed that she is alive.  But the nerve damage she sustained, the lead shrapnel left inside of her body, the bevy of medications, strokes, constant pain, etc, made this pregnancy very hard.  Honestly, we never thought she could get pregnant again... a few of her doctors told us to be prepared for that very possibility.

But God blessed us. She got pregnant, and Nomi was born. He was adorable. Our miracle baby. The baby we didn't think we could have. The doctors all checked him  out. He looked healthy and happy.  

Just to be on the safe side, at just a few weeks old, the neonatologist ask us to go to Sharp Children's Hospital to have an MRI, just to make sure he would be OK.  We did, and everything looked good. Relieved, we went on with life. Raising our two children. Things were good.

More time went by, and it was Beenish who first noticed something was wrong. Nomaan never made eye contact. He would track her voice, but never make eye contact. If there was a bright light on somewhere in the room, he would automatically direct his attention that way.

We went back to Sharp, where a pediatric neurologist started seeing Nomi. As it turns out, this was the same neurologist who ordered and read his MRI a few weeks prior. After weeks of visits, the Neurologist could find nothing out of the ordinary... and referred us to a pediatric opthomologist at Sharp as well.

This doctor we saw barely spent any time with us. She just said it must be something neurological, and that we should return to the neurologist. Frustrated, we decided to get a second opinion.  After some research online, and speaking to more doctors, we were told that perhaps Nomaan needed an eye test called electroretinography, or ERG.

By this time, Nomaan  also developed a case of strabismus, or lazy eye. Did we just notice it? Was it always present? Was it getting worse, was this part of what was wrong? We simply didn't know.

We went to a pediatric opthomologist  at Scripps in La Jolla, who was supposed to do the ERG. He examined Nomi...  spent some time with him, and came up with an excellent theory. There was in fact, something wrong with Nomi's vision. And he would figure it out and help us. He wanted to see Nomi live a normal, successful life. But until we were willing to commit to only using this doctor, he could give us no diagnosis, and would do no  tests. It was a waste of an appointment honestly. He rubbed us the wrong way. We went there for a test he just didn't want to do.

Back at Nomi's pediatrician, she recommended we see the pediatric opthomologist who worked right next door to her. I don't know why the thought never crossed our mind. We went to see Dr. Peter Spiegel a few days later. Instantly, we were impressed. Great demeanour. He took his time, getting to know us, getting to know Nomi. He was patient and attentive.

He told us to start with just glasses and see how Nomi does. And low and behold, it worked. He was able to see much much better. Here he was, at 3 months old, with these tiny little baby Harry Potter glasses. It was cute, we loved it.

By the time Nomi was almost 1,  Dr. Spiegel decided that it was time to surgically repair his strabismus. The surgery went well, no complications.

And Nomi went about everything as normal. We had visits with Dr. Spiegel very 3 to 6 months. he followed him closely.

Between the glasses and the surgery, we thought everything was going to be fine. We started to notice little things, like, he never wanted to look down. He would reach for a toy on the ground without looking at it, but feeling for it. Maybe it was because he was young, maybe because he didn't like his glasses, or his prescription was wrong? We didn't know. We also started to notice that his fascination with lights was getting stronger. When we would look at his beautiful light brown eyes, we would notice that they would shake oddly. He was 3 and a half now, and its almost as if the glasses only helped him a little bit. He was still too young to communicate the problem specifically... but it was becoming more and more apparent.

Dr. Spiegel referred us to his former attending, Dr. Marc Borchert at the Children's hospital of Los Angeles, another specialist in pediatric opthomology.

Dr. Borchert, after reading all of Dr. Spiegel's notes, ordered the ERG, or electroretinography. What this test does is measure the eyes response to light using electrodes that are attached to the cornea.

Based on all of his signs and symptoms,  and the results of the ERG, in April of 2011,  Dr. Borchert diagnosed Nomaan with LCA.