The news of Nomi's diagnosis was devastating to our family. He already struggled with his vision, and it was to get worse, and there was really no treatment available.
Dr. Borchert told us to not lose hope, that gene therapy was on the horizon. But gene therapy in a way still sounded like science fiction, so we were skeptical.
Dr. Borchert sent Nomaan's blood samples to Dr. Tim Stout at the Casey Eye Institute in Portland to confirm the diagnosis and specify the gene causing his LCA.
In the meantime, I went to google, trying to find information about possible therapies.
I found 6 active clinical trials world wide, 3 in the United States, and others in France, England, and Israel.
All of these trials were only working with the RPE65 gene. All but one, were only working with Children and Adults 8 and above.
The Children's Hospital of Philadelphia (CHOP), under lead researchers Dr. Jean Bennet and Albert McGuire, were working on kids 3 and up.
I called each and every trial, and tried to get as much information as I could. I was getting mostly advice and push back. Your son is too young, our trial has already closed enrollment, we need to wait on the results of the genetic testing.
Kathleen Marshall at CHOP, seemed the most helpful. As I mentioned before they were taking children young as 3, and they were getting ready to start recruiting for phase 3. But she too needed to wait for the genetic testing to see if he had the RPE65 gene.
In August of 2011, it was confirmed that Nomaan did have a mutation in RPE65 and that it was causing his LCA. Little did I know, the Casey Eye Institute sent his results to Dr. Borchert at CHLA and Dr. Bennet at CHOP. I don't necessarily know what happened behind the scenes, but there were conversations and emails running back and forth across the country. I will say I was taken back when my phone rang and it was Dr. Bennet on the other side.
Dr. Bennet explained what she and her team were trying to do and asked me questions about Nomi. She gave me a status update and asked if were interested. Needless to say, I told her, "we would do whatever it takes."
It has been 2 years since that first phone call. I kept in touch with both Kathleen and Dr. Bennet via phone and email the entire time. We gathered medical records, sent blood samples for Beenish, Nomaan and Myself, and saliva samples for just Nomi, and waited.
As time went on, I started to lose some hope. 24 months is a long time to wait in limbo. I knew they were going to take 27 patients, and if I recall correctly there were about 50 who were interested.
At the end of July, of 2013, during the month of Ramadan, I got a call from Dr. Bennet late at night.
They now had everything they needed, and would like to proceed with a screening visit.
The screening visit will determine whether or not Nomi is enrolled in the study!
Speechless, I shared the news with my wife, and we shared some tears. Even at this moment, I get emotional thinking about the call. Words can't describe the emotions we felt. Definitely relief and hope. But it also makes you nervous...what are they looking for? What determines his eligibility at the screening?
But this is where faith becomes apparent. In our faith, it says that God tests those he loves most and doesn't give anyone more than they can handle. With Nomi, I look at the everything that has happened thus far and see the trail of breadcrumbs leading back to God.
Of all the genes that cause LCA, Nomi happens to have the one that is being researched. Of all of the trials happening worldwide, the one accepting children as young as Nomi happens to be in a place where we have a strong, family support network - who have been there for us since the beginning, offering to take us in and help us in any way they can. My cousins Faaiza, Khurum, and their children, have been an extension of our family for some time now. We love seeing them, and know we can count on them. My aunt and other cousin Sameera too, will be there for us as well.
One of my best friends, Dr. Emile Sharifi, is an opthomologist, who has been helping me sort through all the research that is out there. Another good childhood friend, Dr. Salma Khayali, is a pediatric opthomologist, who examined Nomaan in her free time and helped advise us.
Some look at it like its just a small world or simple good luck. I look at it like this is God telling us, we were patient, and didn't lose faith, and he will be there for us now to help Nomaan.
To finally get the news, during the month of Ramadan, a month in which we devote ourselves to prayer, fasting, and family, can't just be a coincidence.
So on August 19th, at 7:30am, Beenish, Nomaan, and I will be at CHOP for our screening visit. By mid September, we should know the results and whether or not he will be included in the trial.
Now more than ever, we need to maintain our faith and ask that everyone keeps our family in their prayers. They have selected 16 patients so far. There are 11 spots left, and we hope one is ours. We love you all, and thank you for all the love, support, and prayers you have given us so far.
From this point forward, I will keep posting after all of his appointments and visits should he be selected.
I will describe his reactions, our reactions, the procedures themselves, and his improvement in vision, if any.
Thanks guys.
Dr. Borchert told us to not lose hope, that gene therapy was on the horizon. But gene therapy in a way still sounded like science fiction, so we were skeptical.
Dr. Borchert sent Nomaan's blood samples to Dr. Tim Stout at the Casey Eye Institute in Portland to confirm the diagnosis and specify the gene causing his LCA.
In the meantime, I went to google, trying to find information about possible therapies.
I found 6 active clinical trials world wide, 3 in the United States, and others in France, England, and Israel.
All of these trials were only working with the RPE65 gene. All but one, were only working with Children and Adults 8 and above.
The Children's Hospital of Philadelphia (CHOP), under lead researchers Dr. Jean Bennet and Albert McGuire, were working on kids 3 and up.
I called each and every trial, and tried to get as much information as I could. I was getting mostly advice and push back. Your son is too young, our trial has already closed enrollment, we need to wait on the results of the genetic testing.
Kathleen Marshall at CHOP, seemed the most helpful. As I mentioned before they were taking children young as 3, and they were getting ready to start recruiting for phase 3. But she too needed to wait for the genetic testing to see if he had the RPE65 gene.
In August of 2011, it was confirmed that Nomaan did have a mutation in RPE65 and that it was causing his LCA. Little did I know, the Casey Eye Institute sent his results to Dr. Borchert at CHLA and Dr. Bennet at CHOP. I don't necessarily know what happened behind the scenes, but there were conversations and emails running back and forth across the country. I will say I was taken back when my phone rang and it was Dr. Bennet on the other side.
Dr. Bennet explained what she and her team were trying to do and asked me questions about Nomi. She gave me a status update and asked if were interested. Needless to say, I told her, "we would do whatever it takes."
It has been 2 years since that first phone call. I kept in touch with both Kathleen and Dr. Bennet via phone and email the entire time. We gathered medical records, sent blood samples for Beenish, Nomaan and Myself, and saliva samples for just Nomi, and waited.
As time went on, I started to lose some hope. 24 months is a long time to wait in limbo. I knew they were going to take 27 patients, and if I recall correctly there were about 50 who were interested.
At the end of July, of 2013, during the month of Ramadan, I got a call from Dr. Bennet late at night.
They now had everything they needed, and would like to proceed with a screening visit.
The screening visit will determine whether or not Nomi is enrolled in the study!
Speechless, I shared the news with my wife, and we shared some tears. Even at this moment, I get emotional thinking about the call. Words can't describe the emotions we felt. Definitely relief and hope. But it also makes you nervous...what are they looking for? What determines his eligibility at the screening?
But this is where faith becomes apparent. In our faith, it says that God tests those he loves most and doesn't give anyone more than they can handle. With Nomi, I look at the everything that has happened thus far and see the trail of breadcrumbs leading back to God.
Of all the genes that cause LCA, Nomi happens to have the one that is being researched. Of all of the trials happening worldwide, the one accepting children as young as Nomi happens to be in a place where we have a strong, family support network - who have been there for us since the beginning, offering to take us in and help us in any way they can. My cousins Faaiza, Khurum, and their children, have been an extension of our family for some time now. We love seeing them, and know we can count on them. My aunt and other cousin Sameera too, will be there for us as well.
One of my best friends, Dr. Emile Sharifi, is an opthomologist, who has been helping me sort through all the research that is out there. Another good childhood friend, Dr. Salma Khayali, is a pediatric opthomologist, who examined Nomaan in her free time and helped advise us.
Some look at it like its just a small world or simple good luck. I look at it like this is God telling us, we were patient, and didn't lose faith, and he will be there for us now to help Nomaan.
To finally get the news, during the month of Ramadan, a month in which we devote ourselves to prayer, fasting, and family, can't just be a coincidence.
So on August 19th, at 7:30am, Beenish, Nomaan, and I will be at CHOP for our screening visit. By mid September, we should know the results and whether or not he will be included in the trial.
Now more than ever, we need to maintain our faith and ask that everyone keeps our family in their prayers. They have selected 16 patients so far. There are 11 spots left, and we hope one is ours. We love you all, and thank you for all the love, support, and prayers you have given us so far.
From this point forward, I will keep posting after all of his appointments and visits should he be selected.
I will describe his reactions, our reactions, the procedures themselves, and his improvement in vision, if any.
Thanks guys.
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