Thursday, August 18, 2016

Finally public!

I know I said I wouldn't be posting any longer, but this article was a long time coming. We had the opportunity to meet Christian and Elizabeth at CHOP just before Nomis procedure. 




Here is a pic of Nomi and Christian from 2013:


Friday, September 5, 2014

A Heartfelt Goodbye

It's been almost a year since Nomaan was treated. I haven't posted as often as I would have liked to in recent months. Life, as is always the case, has kept me quite busy. Between work, family, school, etc., we have all had our hands full.

This year, we have only had two visits to CHOP.  I received an email this week, finalizing our plans for our next visit. In November, we will have our final visit of 2014. After that time, we will have annual visits only.

This reminded me of all of you, our readers, and that I must not only give you an update, but also bring this story to a close.

This blog has reached so many people, and has been read almost 10,000 times as I write this. I never imagined how well this would be received. Its overwhelming. I recently met a total stranger at a gathering who said that she not only read our blog, but was also touched by it.

With that being said, this will be my final post. 

So much has changed for our family, for the better of course, as a result of this adventure.

Someone once told me, that in every challenge in life, God hides blessings for those who stay positive and faithful throughout the course of their struggles. When Nomi was first diagnosed, we were so devastated, that we couldn't see the hidden blessings that were soon to be  bestowed upon us.

The greatest benefits have come to Nomi. He has blossomed into a young boy who is so much more confident and self reliant. He is doing better in school, and can handle tasks that he used to need assistance with, all on his own. He has become more social, more outgoing, and has made new friends.

As a family, the frequent trips to Philadelphia have allowed us the opportunity to reconnect with old friends, spend time with family that we didn't get to see much, and make new friends.

We have found new sources of inspiration and role models for our son, individuals who have shown us that nothing is beyond his reach, and there is no limitation that he can't overcome.

We have been able to experience an entire new city, and see another part of the country, immersing ourselves into the local culture and landscape.

Of course, the frequent flier miles are nice too. :)

We are truly honored and blessed.

What we will miss most, is the team at CHOP, the amazing people who made all of this possible for him. Dr.  Maguire, Dr. Bennet, Dr. Dan, Kathy, Sarah, and Dominique.

As Nomaan's parents, this has motivated us to give back. WE try to show our support for others, through supporting other fund raising efforts, or by simply sharing our story. Research works. All it needs is support.

To all of our readers out there, I implore you to donate. We are personally biased towards the research being done in gene therapy and LCA (you can find links here on our blog) . Regardless of this, what ever charity you choose, its important that you donate time, money, or knowledge. It doesn't have to be much. A little can go a long way. You may not realize it today, but the donations you make will impact the lives of people around the world like Nomi. Its  through the efforts of those who can give and the people who work hard to make dreams a reality that children like our son have new opportunities presented to them.

Though Nomi's story has been told, his journey has not ended. He will continue to have challenges in his life due to his vision. These challenges are now things he knows he can overcome, and become the man he wants to be.

We may no longer be updating this blog, but we will always be available to anyone who wants information. Feel free to reach out via email or Facebook.

Thanks for sharing in our joy and following our sons progress. We will forever be grateful to all of your for your love, support, and prayers.

Good bye, good luck, and God bless you all.

With Love and Gratitude,
Basil, Beenish, Raafay, And Nomaan Maqbool.
 


Sunday, June 22, 2014

Fathers Day

An old friend of mine, Pete, has a blog here in the Temecula Valley. Little did I know, after reading my blog, he had planned an entry about Nomaan on his blog.

Here is the link to his Blog Post

http://temeculacalendar.blogspot.com/2014/06/odds-are-for-people-that-cant-do-it-c.html

Thank you for your kind words Pete. 

Thursday, May 22, 2014

The coincidental significance of Memorial Day for my family's journey into, and now turning out of, darkness.

Many, many thanks to the Maqbool Family for inviting me to guest write on this magnificent, inspiring, hope-filled blog... but most importantly for your friendship.  I always say that while my family never chose this path of blindness, I am ever so grateful for the people that I have been blessed to have met as we walk this journey... a journey that is taking a turn from darkness to light :) - Kristin Smedley

As a child of a Dad that served his country in a brutal war, I was raised to respect and admire the work of US soldiers.  I have always respected Memorial Day as a time to reflect on the sacrifice so many in this Home of the Brave have made that I may live in this Land of the Free.  A very, very good friend of mine always tells me there are no coincidences... and now I can see that the significance of Memorial Day for my family is quite non-coincidental... and it has even greater significance than I had ever imagined.

At the beginning of Memorial Day weekend fourteen years ago, while my family and friends back in my hometown of Philadelphia were packing cars to head to "the shore" for the summer kickoff, I was in my suburban Chicago home packing up my four month old firstborn, beautiful baby boy to head to the pediatrician.  Michael's eyes had been doing a weird rolling "thing" whenever I laid him down to change his diaper, and I was interested to see if the pediatrician thought the same as this first time mom: "That doesn't seem right."  Agreed with me she did... but it was more than my fear that he had low muscle tone or "lazy eyes"... she was thinking brain tumor or worse,  and she made all the calls to summon an emergency team that would be waiting for us after our 10 minute drive to the hospital.

My husband and I moved into Michael's little hospital room for that Memorial Day weekend where we sobbed at his bedside as he endured spinal taps, blood draws, EKG's, EEG's... the list of invasive and emotionally unbearable procedures goes on.  We sang his favorite songs, rubbed his back and squeezed his tiny little hands... everything possible to ease the pain.  But if you are a parent that has watched your child suffer, you know there is not much you can do to alleviate it... and that might be the worst kind of torture.

We all survived that Memorial Day weekend... and as we went home to cuddle and snuggle with our little guy that had been through so much, we had no idea that the medical staff was assembling a team to combat a major battle: cancer.  All tests were inconclusive for anything other than cancer.  Turns out there was one more result they were waiting on... one that would take five days for a definitive answer... and when that result arrived they were stumped: the test proved there was no cancer.  They were dumbfounded.

Fast forward a few months and we learned that while we were not going to battle a brain tumor and we were not going to battle cancer.... we had a whole different, unfathomable battle: blindness.  Our son was diagnosed with one of the most rare and the most severe blindness: Leber's Congenital Amaurosis (LCA).  Doctors told us he'd never drive.  They told us he'd never play baseball.  They told us the dreams we had for our son were gone.  We asked if there was something, anything, out there that might help our son.  They said there was no hope for a cure... perhaps in 50 years there might be something.  For now, they said, our only hope was to learn all the tools of blindness and teach them to him and to raise him well... as a blind child.

As all good troops do, we analyzed the road before us, we gathered tools to fill our arsenal of resources, and we set out to do the best job we could to protect our son and arm him with what he needed to succeed... and we prayed like hell that this would be easier than it seemed.

Now fast forward a few years, less than a decade and a second blind son later, and we got a call from our geneticist that they finally found the gene "issue" causing our boys' blindness: CRB1.  Again proving the no coincidence theory, this call came just days after the genetics team at Children's Hospital of Philadelphia announced that with their approach to gene therapy they were able to treat LCA blindness in children with a different gene than my boys.  Different gene, yes, but their huge success blew the gene therapy door wide open... and my husband and I started asking how CRB1, how OUR boys, could be next.

After a year or so of asking, researching, emailing, calling, visiting, and nagging the heck out of doctors, we formulated a strategy for the battle of a lifetime: Cure. This. Blindness.  We connected with other CRB1 affected families and consulted with research teams and major worldwide organizations to launch the CRB1 Fund to literally fund the cure.  We officially launched this mission on Memorial Day 2011.  Just three years later, we have evolved to the Curing Retinal Blindness Foundation and we are are funding multiple teams working on cure options, connecting with and supporting CRB1 families worldwide, and are fundraising  in preparation, in full expectation, of multiple clinical trials.

Our path of blindness has never gotten easier, but it has gotten better:  When you are prepared for battle, you fight a good fight, and many times you succeed.  But sometimes no matter how prepared you are, your talents, your tools, and your will to succeed are just not strong enough to win.  So you retreat, you regroup, and you strategize a new plan.  When the school can't meet the special needs of your child, you regroup and form a new plan that gets the needs met.  When science takes a bad turn and the theory that you thought would be the one to cure your child proves wrong, you regroup and analyze a new path.  When baseball as you know it doesn't work for your blind son, you find a way that he can play, successfully.  All the while you remain patient enough to stay focused on connecting the  problems, the challenges, with people that can gather the right troops to march to victory.

There is one tool that I believe  makes a difference in whether you have the strength to regroup and fight again stronger: Hope.  When you have Hope in your arsenal, you fight harder, stronger, smarter.  When you have Hope you can see the result and keep your eyes on it as you strategize different paths to victory.  When you have Hope, you can hear the music of a victory celebration.

This Memorial Day I am grateful for those that dedicated their lives to keep American Dreams alive.  And I am ever so grateful for those that dedicate their lives to making my American Dream, my Mom Dream possible:  A cure for my boys and all those living with blindness.  I very much look forward to the day that I can announce the battle for a cure has been won and I can play the victory music... I wonder if it'll be on or near Memorial Day :)

NOTE:  While I mention that my family was up against a "battle" of blindness, my boys, Michael (now 14) and Mitchell (10) are so comfortable in their lives that they would likely never even consider the word "battle" in regard to their blindness!  They are athletes, musicians, gifted students, and have a zillion traits of "typical" boys... they are indeed typical boys that happen to be blind.  Our family is, however, battling for a cure everyday: our boys have a few dreams that involve sight, and as any parent would, my husband and I, together with many other parents of CRB1  kids, are going to keep working until those options are on the table... and we will leave it to the kids to choose to take them or not :)  Follow our progress at www.crb1.org and meet our family, the Smedley Family, there and at www.bikethebasin.org (While you are at www.bikethebasin.org you can read how I find the silver lining in almost all of life's challenges in my Eye Believe in Miracles BLOG.)

Wednesday, May 7, 2014

Nature wasn't created just for those who can see it

I'm elated to have been invited to be a guest blogger on this inspiring blog.  My name is Jennifer, and our family and the Maqbool family have a common bond.  We both have young sons, both of whom are visually impaired due to the rare retina condition that has robbed their vision at birth.  With other LCA families that have come into our lives, there is a level of understanding where you don't find too often.  We look to our LCA families, as our second family, and for that I'm so grateful for the courage of Nomi and his family, and all they have gone through!

We have a 5 year old boy named Gavin (who was born with LCA), and a 10 year old son who was not, and is sighted.  Gavin's type of LCA (NMNAT1), has caused severe vision loss at birth.  He has never had any type of vision.  He can only detect bright sunlight, when outdoors.  He can't detect typical light indoors.  Like many LCA families, our child was the first instance in either of our families.  My son was the second person I ever met in my whole life, who was blind.

I was given the green light as far as topics, so I'm just going to share a moment that happened recently, that actually helped me gain a new perspective, and probably helped me to become a better mother to both of my children.

It may sound odd, but just this year, at the tender age of 5, has Gavin come to understand that he is 'blind'.  I use that word in single-quotes because Gavin's definition of it, is not the same as our understanding.  He does know that blind means he does things differently.  I wrote a few recent blog posts on our site about this. This year has definitely been a year of change and challenge and filled with inspiration for our family.  Most recently we have been asked and told the following by our son:

"Mom, am I blind?"
"I don't want to be blind.  I want to be alive."

Our family has learned many valuable lessons the past few years.  The one thing that stands out the most with what I have been taught as we journey through this world with both a blind son and a sighted son, is understanding and redefining my definition of the word beautiful.

I was taught a very valuable lesson one afternoon.  I was at my son's music school, where he attends with other blind children.  One of the students needed to get to the bus, so we left the indoor classroom, and walked outside, so I could help her find the gate.  As soon as I stepped out of the room, a cool breeze hit my face, I saw the bright blue sky peeking out amongst a sky full of billowy dark grey and white clouds.  It had just stopped raining, and a beautiful rainbow lingered in the distance.  In front of me were tall green trees, swaying in the wind, and a great big patch of dark green grass that looked like it went on forever.  The contrast of all these colors took my breath away.  In the same moment I took all this in, I thought to myself this is my kind of day, it's so beautiful, I wish she could see it.

I wish Gavin could see this.

Simultaneously, the young girl I was walking with said...

"Wow, isn't it gorgeous outside today!  I love this beautiful day."

She was also completely blind like my son.

I responded with a big lump in my throat, "It definitely is."

I have not shared this moment with anyone.  I felt like I didn't give her enough credit in that moment.  I began to wonder if I don't give my son enough credit with moments that I feel sad that he can't see certain things.  What is he feeling?  Is it still beautiful even though we don't see it the same?

Yes it is.

Pretty to my son, is a kind heart, a sweet soul.  Beauty to my son is listening to crickets, and cool, breezy days, and all kinds of music.  Cute to Gavin is the sound of a giggling toddler that makes him laugh.

I began to think what do people think of blindness, when they see Gavin?  Do they see a sad, lonely, isolated 5 year old when they see him walk down the street with his white cane?  Those words describe the complete opposite of who my son is.  That moment of the gorgeous, beautiful day, with my young blind friend next to me, helped me to turn the corner of a huge mountain I had been climbing the past 5 years.  The sadness at the depths of my soul, for my son, who cannot see the intangibles that our world has to offer us, still remain.  Beauty of nature gets me every time.  Those that follow our blog, know I talk often about this.  The stars that twinkle across a clear black sky.  A double rainbow that has no ending.  A sunset across a horizon sitting over a vast ocean.  Those are the things that get me as a mom.  Those along with a list of many other things, are what can sink my heart in a moment.  I wish and hope one day he can stand by me, and enjoy this beauty.  But, I have come to a place in my life, I know it will be ok if he never does. 

His life was written differently.  I have respect for that. 

I didn't before.  I just wanted to fix it.  I am his mom.

I also know I will always continue to fundraise and advocate for the opportunity for him to regain some vision one day.  I hope one day we can make a change and eye sight can be an option for my beautiful boy.  I want it to one day be an option for him, an option for everyone who has a blinding condition that wish they could see one day.  But, I feel differently about it now.  It doesn't have to happen for me to feel that my son will have a full life.  I know his life will be filled with magic, wonder, and a lasting love for all that nature and this wonderful world has to offer. He doesn't need eyesight for that to happen.  To be happy. To see beauty.

When we have people approach us and tell us about the job we are doing with trying to make a difference with research for LCA-NMNAT1, and how much of a difference we are doing to change our boys life.  I kindly respond with "No, he is changing ours."  And he has for the better.

The bigger picture this has done for my soul, is appreciating the way both my sons lives have been written.  The template for their life was made before I knew their existence.  As parents we have learned to nurture even more so their given talents, and their natural abilities and passion.  Whatever that may be.  We aren't in the drivers seat in their life.  We are simply the fuel to help them get to the destination they choose to reach!  What a momentous day that was, when I realized I was one with natures beauty, with a young girl who was blind by my side.  We are all in this together... nature was created not just for those who can see it. 

We can choose our adventure. 

And we can choose to be happy on it!

 
If you choose to follow Gavin's fun times, you can do so here.
 
Thank you to Basil for allowing me to be a part of your inspiring blog. I am grateful to be able to share this personal moment that changed me for the better, here on your website.  Your family occupies a big part of hope in my heart, because you were courageous enough to take a big step that is helping to change the lives of others who choose to go down your path. 
What a blessing you have been to us!

Friday, May 2, 2014

It's Been a While

As we are about to embark upon our 6 month appointment in a few weeks, I can't help but think about how fast the time has passed. We went from waiting on pins and needles, to a tornado of activity, and now we are all settled in. Its amazing how quickly 6 months has come and gone. Life has changed for the better. And with the passing months, its become "normal". The time of watching Nomi with baited breath has ended.

It's been quite some time since I have last posted. There have been a number of reasons why, and I won't bore you with all of them.

Primarily - we have been extremely busy with life... as all of you are as well.

Secondly - I have been asked to limit and filter the amount of information I share.
This is due to the fact, that this therapy is still awaiting approval by the FDA and if someone who is making the decision happened upon my blog haphazardly, it could affect his/her judgement. This trial is supposed to be blinded/randomized.

This treatment can help a lot of people out there, and I wouldn't want to cause any issues that can delay it from reaching the marketplace. People deserve the same gift that my son has received.

I also hope researchers can further push the boundaries of this treatment. Perhaps find ways to treat the entire eye (not just the center 1/5), find a less invasive means, increase the dose, and/or start the treatment sooner. So much can still change and improve, based on what happens next with the FDA.

Gene therapy is the next frontier - and like Kirk and his crew, Dr. Maguire and Dr. Bennett have paved the way.

Out of respect for the wonderful researchers and team at CHOP, I have to comply. i will try my best to limit some information that may hurt the trial. If any of you have specific questions, you can message me privately, and I will be happy to answer what I can.

With all that being said, on to Nomi.

Nomi has been doing extremely well. He has adapted and learned to use his new found vision very well. This is  probably also thanks to his ongoing maturity.He also has a much more clear understanding of what limitations he has. Blending the two together, he has continued to become more independent.

As an example, his visual acuity has changed. It was Nomi who pointed it out. He noticed that his glasses "didn't work" as well as they use to. His acuity has also improved. He still needs a very strong pair of glasses, but they aren't nearly as thick as his last pair.

At his last IEP meeting at the beginning of April (that's Individual Education Plan - for school)  his teacher, Mrs.Caskey, discussed just how far Nomi has come. His school work has gotten better, and he has become much more social. He is less hesitant and afraid to try new things. She is extremely proud of the progress he has made. To her, simply put, the procedure has made him a new child.  Mrs. Caskey has done a wonderful job helping Nomi. She is a great teacher. And I am absolutely sure, part of his success is due to her hard
work.

That's it for now folks. Thanks for reading. Again, we appreciate all the love, prayers, and support.

God Bless.










Wednesday, April 30, 2014

Hello Again!

Hello all - I just wanted to give you a heads up.

I have invited some very special people, all with knowledge or involvement in LCA to guest post to our blog. Some have graciously agreed.

I personalty have enjoyed reading things they share, or I have turned to them for information and/or support. I haven't ask them to write anything specific. I'd like them to have a chance to share whatever they feel is important, be it personal stories, or something very scientific. 

Look for their posts soon.

Happy reading everyone. 

Tuesday, March 11, 2014

Blog Shout out

I would like to give a shout out to our good friend, Kristin Smedley and her Blog.
Kristin is mother to Michael and Mitchell Smedley, who I mentioned earlier. We have had the pleasure of meeting her, her boys, her husband and daughter. What a wonderful, amazing family.
They have been working tirelessly to raise awareness and funds for CRB1.

You can read her blog here:
http://www.bikethebasin.org/kristin-smedleys-blog/

You can specifically read about the great piece she wrote about Nomi here:
 http://www.bikethebasin.org/2014/02/28/a-cure-is-possible-for-our-rare-disease-we-just-have-to-fund-our-way-there/

I'd like to close this entry with a quote from Michael - that has resonated with me since I heard it.
"It doesn't matter if I'm sighted or not, what matters is what I'm passionate about."


Thursday, December 19, 2013

Temecula Valley News

Bevi Edlund, a reporter for the Temecula Vally News, did a piece on Nomi!

You can see the article here:

http://www.myvalleynews.com/story/75270/

Therapy

This blog began as a small project. A digital scrap book. My only intention was to keep friends and family informed, and to give Nomi and Raafay something to look back upon as adults. It has evolved into so much more.

For Nomi, he is too young to remember and understand his condition, let alone the steps he has had to go through to improve. By the time he is old enough to really comprehend this blog, he will have forgotten what his life was like prior to 10/24/13.

For Raafay, as a big brother, he obviously cares for his younger brother. It is still difficult for him, to see his brother, Mom, and Dad away for so long. He has had to stay home because of school. Luckily, he has his cousins to keep him company whom he loves to death, and my sister cares for him as if he were her own, but you still can't replace us (I hope), and we did spend a total of 6 and 1/2 weeks away in the last 4 months. Raafay has had to make this sacrifice, and he has been gracious about it. He too will be able to refer back to this blog and see why he too had to sacrifice.

For me personally, this has been very therapeutic. Sharing our story, our feelings, putting it all on "paper", has helped me reflect in ways I wasn't expecting. 

This blog has given us the privilege of meeting  many great people.  People who are either involved in LCA research or study, families that are affected, people who are interested, have all been able to reach us via email and Facebook. In some cases, we have even been able to meet people via phone and in person. All thanks to our little project. It's amazing to connect with everyone, learn from them, and answer questions for them. We can turn to each other for support and information. It's a support group and therapy, rolled into one, for the digital age.

As of a few minutes ago, this blog has been read over 7200 times from people in countries all around the world. We are humbled and grateful to all for the outpouring of love, prayers, and support.

We thank you all out there for following us on this journey.








Monday, December 16, 2013

Ricki

I've had the extreme pleasure of meeting Ricki Lewis, Phd.

She has her doctorate in genetics, and is a writer. In addtion to writing many textbooks, Ricki has also written a book about Corey Haas, the first boy to recieve gene therapy for LCA.

"The Forever Fix, Gene Therapy and the Boy Who Saved it." - follows Corey's story. Corey was a pioneer, someone I personally look up to. He was the first, who has paved the way for so many children after him.

I've not had the pleasure of reading the book yet, but I will.  Ricki was kind enough to send us a copy with a nice inscription to Nomi on the inside. 

Ricki maintains an excellent blog about genetics. An example can be found here:

http://blogs.plos.org/dnascience/2013/11/21/another-blind-boy-sees-the-light-thanks-to-gene-therapy/#comments
 
You can learn more about Ricki and her book here:

http://www.rickilewis.com/





Wednesday, December 4, 2013

Leaps and Bounds

Nomi completed the mobility course yesterday for the first time since his procedure.  He also did an eye chart to test acuity again. These are the only two tests that Beenish and I can observe and actually "see" his changes.

In terms of acuity, there has been no change. His eye chart results have been exactly the same as they were before the surgery.

The mobility course told a different story. Before I tell you how it went, I want to put it into perspective.

The mobility course is a black and white grid, with arrows and black and white obstacles on it. Subjects walk the course, following the arrows, trying to avoid the various obstacles. They do this 3 times for each level of light, using the left eye alone, the right eye alone, and both eyes together.

For the sake of understanding, the light in the room is on a dimmer, and can vary on a scale of 0 to 20. This is an arbitrary scale, so I can explain Nomi's performance better.

If I were to do the course, with normal vision, I could probably do it at a 2 or 3. At a 1, I could probably see the obstacles, but maybe not the arrows. At 0, I would not be able to see anything. At 20, it would be so bright, I would need sunglasses.

By navigate well, I mean make it to the end of the course, completely unassisted, without bumping into a single obstacle.

In Nomi's case, pre surgery, he struggled. They started the  light at maybe 10. They slowly went up by 1 every 3 runs of the course. With his left eye alone, he could not navigate the course until about 17. With his right eye alone, and both eyes, he managed well at around 14. He still had issues with depth perception, even at 20, and never managed to handle the steps without using his feet to "feel" them.

Yesterday, they set the course up as normal, and began at a 10. Nomi breezed through course. He did so well that Dr. Dan had to ask Nomi to slow down. Rather then increase the light as they had done before, Dr. Dan and Sarah lowered the light. There was only one setting lower than 10 that the lighting scheme allowed, and that was about a 7. Again, Nomi had no issue with the course.
What he once couldn't do at a 17, he did at a 7!

As I watched him successfully complete the course, I can honestly say, I was extremely emotional. I am man enough to admit, I cried. My son, who has always struggled with a task that we all take for granted, walked around a dimly lit room, and he didn't trip, fall, bump, bang, or hurt himself.

Even as I sit here now and think about it, it illicits the same emotion. I am absolutely elated and thankful. It's a miracle of science and faith.

I am thankful  to God, for blessing us with our beautiful family and for this opportunity.  I am also thankful for the team at CHOP (Kathleen, Sarah, Dominique, Dr. Bennet, Dr. Maguire, Dr. Dan), whose hard work has developed this technique.

I pray that Nomaan continues to benefit and improve. I pray that this technique becomes available to other families as well. Ameen.





Saturday, November 30, 2013

30 Days

Tomorrow will mark exactly 30 days since Nomaan had his second surgery. On the eve of our next visit to our second home for follow up testing,  I wanted to take a few moments and reflect on the last two weeks.

When we first left Philadelphia, we had just started to notice Nomaan "discovering" his new found vision. Beenish and I didn't quite understand how and what was changing, and it was extremely difficult to get Nomi to describe things.

We did notice some immediate changes, as I mentioned in previous posts.

Since returning home, Beenish and I, along with our families, have seen more changes.

As an example, Nomi went to visit his grandmother, "Ammi". In her living room, she has always had an old gold table clock. My mom and dad both like to pray in that room, and usually, while they pray, Nomi plays by the end table where the clock sits. On his first day at their home since returning, Nomi noticed this old clock, but he saw it differently. He asked my mother when she bought the new clock. My mom told him she didn't buy a new clock. But Nomi insisted she did, and said "the old clock didn't have this white circle on it," as he pointed to the white face on the old gold clock.

This was one of the few times he said something that gave us insight to the improvements.

We have been able to watch him navigate much better. He has become more independent. Simple tasks that he once needed help with, he is able to complete on his own.

Nomi was never able to write in a straight line. He used to struggle with his hand writing. He was able to write letters and words, but it was inconsistent on the page. Within a few weeks, we noticed his hand writing improving, and he was able to write the words, following the lines of the paper.

The biggest change everyone has noticed is the sudden change in his personalty. Since returning home, he exudes a new found confidence. He is less hesitant, less fearful, and has become so much more outgoing. It's as if a switch went off in his brain, and he has completely come out of his shell. It's amazing.

This week, our CHOP family will run tests on Nomi again. They will be able to gather the data they need for the study, that will quantitatively show some of the changes. Beenish and I are especially  excited to see Nomi navigate the mobility course. It was one of the few tests that we were able to observe, and it allowed us to somewhat understand his visual limitations in a different way.  We watched him do the test twice before the surgery. It will be good to see him try the course again.

It has been an exciting time. With every passing day, things change for the better. 


Wednesday, November 13, 2013

Last Night

As Nomaan's vision slowly changes, we have been waiting for him to verbalize or acknowledge the change… we assume that because of his age, it probably won't happen.

Last night however, we caught another glimpse.

In our hotel room, Nomi turned off all the lights. There was a small amount of light coming in from the windows, and the TV was on as well. He was holding his hand up in the air, with his head to the side, staring at his fingers and counting them as if he could see them.

In the past, in a room of this size, with even more light, he would not have been able to see anything.

It was not only inspiring and promising, but extremely cute to watch. It made both Beenish and I very happy. 

Monday, November 11, 2013

Dinner with the Smedleys

Last night Kristin and Mike Smedley welcomed us into their home. It was great getting to spend time with such a great family. It was especially nice for Nomi to play with Mitchell, and for Beenish and I to get to speak with Michael, Mom, and Dad.

Mike, you grill a mean steak... but Michael stole the show - teaching me how to use Airplay with my iPhone and Apple TV.

Michael and Mitchell are an inspiration to all those living with LCA.

Can't wait for you all to come to California.


Saturday, November 9, 2013

The Aftermath

It has been 16 days since Nomaan had his surgery on his left eye, and 9 days since his surgery on his right eye.

It has been an interesting time. The first 24 hours after each surgery, he had to keep his eye patched. Then for 14 days after each surgery, he had to patch his eye while he slept. There was a 7 day overlap in which both eyes were patched at night.

These patches are not soft patches, but rather a piece of perforated metal, none as a shield, that needs to be held in place with tape. Needless to say, they can be a bit uncomfortable.

In terms of results, as I have mentioned previously, the effects can take anywhere from 7 to 14 days after the surgery of the second eye. The benefits also "max out" at 30 days, meaning that no additional benefit is seen. Also, at his age, it can be difficult to verbalize what changes, if any, he is experiencing.

As his parents, we have been hyper sensitive in the hopes of noticing something. And so far, we have noticed things. Some more significant than others.

After his left eye surgery, 4 days later... we were in a sunny parking lot. Nomi looked at Beenish and said: "your hair looks different." Obviously, this could mean a number of things, and it was too soon to tell. But I made mental note of the comment.

About 3 or 4 days after his second surgery, he asked for noodles. I stepped out to pick them up and he came along. It was already dark. for those of you who know Nomi, despite the level of light, Beenish and I usually have to tell him to beware of an upcoming step or change in road, otherwise he would tend to trip. On this day, I forgot to tell him, and noticed that he just stepped up and down the curb while crossing the street, and he didn't need me to tell him. To test if it was just a fluke, I started to walk off and on the sidewalk over and over again. Mind you, we were hand in hand... was he following my lead, or was he actually seeing the curb now? Again, too soon to tell... but definitely promising.

My aha moment came This past Wednesday. We were at dinner, in a fairly dimly lit restaurant. Usually, we would point out to Nomi what food was where. We would watch him touch his food as he ate. He knew what food was where by using his sense of touch. He would never look down at his plate. He simply could not see it in restaurants such as these. Most nights, he would get frustrated, and Beenish and I would end up helping him eat or feeding him.

This night was different. They brought out his go to meal, whenever we eat out: chicken strips, fries, mac & cheese, and ranch. I was tucking a napkin into his shirt, and before I could tell him or help him start eating, he started on his own. I watched for a bit, as he picked up his fork and dove right into his noodles. I wanted to be sure, it wasn't just luck, and that he was actually seeing his food. I told Beenish what was going on, and as she watched, I signaled to her to distract him. Once he looked away, I rotated his plate 180 degrees and moved his fork. Now all the food was in different places. He took a drink, reached down, picked up his fork and started eating. Once more, I wanted to be sure. So Beenish distracted him, and I moved his plate 90 degrees and moved his fork again, Like before, once he went back to eating, he picked up his fork and "saw" his food.

This is a huge improvement. Beenish and I were awe struck. We couldn't believe it.

Finally, today... at dinner, Nomi said " Daddy - you were sleeping. I had to use the potty... and my patch was on and the lights weren't on, but I could see the potty with my left eye."

 I got so excited, I turned a few lights off, and started asking him to tell me how many fingers I was holding up. I left enough light on so that I could see... and started asking. He was getting them right... being his father, I know that prior to the procedure, in that amount of light, there is no way he would have been able to do it.

It's working Alhumdullilah. I  know it in my heart. I see it. By the grace of God, through the gift of science, and the hard work of many brilliant people, the therapy is working. Its starting off slowly, but we see a difference. Its amazing to experience this with him. It has been 9 days so far, and there are still 21 more days left for him to improve Inshallah.

Watching these baby steps, which may seem insignificant to some, brings tears to my eyes. Tasks that are so simple to the sighted, are often times very difficult to those with visual impairment, especially while also young. These were always things that Nomaan struggled with. It makes me so happy to see him overcome these challenges, even if they are slight.

It's miraculous. There is no better way to describe it.




Thursday, October 31, 2013

The Final Surgery - and the Changes to Come

The right eye was operated on this morning.

Much like the first surgery, all was well. Dr. McGuire doesn't like to jinx himself... but he described last weeks surgery as almost perfect... and he described this week as very similar to last week.

All good news.

We have had 3 post ops since his first surgery. At each one, Dr. McGuire does an exam, tears, blood and urine are collected, and visual acuity is tested. 

We have more post ops planned, which will tell us the status of the surgery itself.

Prior to the first surgery, Nomi had no real idea of what was to happen. Afterwards, Nomi understood that he went to sleep, and after going to sleep he had "shurgery".  During the surgery, Dr. McGuire  trims Nomis eyelashes to prevent infection, and this is what "shurgery" has come to mean to Nomi. He keeps asking if they are growing back yet. 

Yesterday, at Nomaans pre op, he insisted on wearing his Halloween costume. Everyone at the hospital enjoyed it. As we were leaving, there was a camera crew shooting a promo video for the hospital, and asked if they could video tape Nomaan. He was shy, but he let them do it. He wore the costume until bed time. He wanted to wear it again today, but luckily, he was so sleepy when we woke him up he forgot about it. 

He came out of surgery fine. On the way back to the hotel, he was much more anxious than he was last week. This is probably due in part because he always relied more on his right eye than his left. And now the right has to be patched for 24 hours. At night, both eyes will have to be patched. This will really limit his mobility.

Now that the surgery is over, we can take a major breath. The hard part is over. Now  we will have to wait and see what exactly happens with his vision.

It's complex, and there is much going on that affects the outcome.

First, there is the obvious, the condition itself, and if and how well it will respond to the treatment.

Second, there is the trauma of the surgery. This is a rather invasive procedure. The eye needs to heal.

Third, the post op medications. The eye drops can cause blurry vision at times, especially since he is required to put them in three times a day.

Fourth, there is a psycho somatic portion to this treatment. His eyes have not properly functioned since his birth.

The brain has adapted to interpret the visual impulses it was receiving from "damaged tissue." Once the eye starts to function better, the brain needs to relearn how to interpret this new data.

There is also an issue someone described to us, in which the brain starts to misinterpret signals when only one eye has been treated and the other remains untreated. This is no longer an issue as of today, but may have affected the last week when only his left eye was treated. 

Lastly, he is only 6 years old. If and when he starts to see things differently, will he just go about his day and do things with better sight, or will he stop and notice, and better yet, verbalize the difference? There is no way to know.

Ideally, it takes 7 to 14 days to see results. That means by next Thursday, the 7th, we may, emphasis on may, start seeing some results. To be sure, the extensive testing that was done during baseline will be repeated the first week of December. This will give us actual data to see how he has responded.

We will keep you all posted. Thanks for all the love, support, and prayers.















Thursday, October 24, 2013

After the First Surgery


The surgery went well this morning.

The day started off early... Nomi took his medication, prednisone, at the hotel and it was off to the hospital.

We arrived at 6:30 am, and started with blood draws... not a good way to start the morning.

We were moved tot he pre-op room. Nomi was weighed and measured, and vitals were taken.

After all the paperwork, out came the "giggle juice" (midazolam). And we really really liked the giggle juice. :) It had us relaxed and happy.

After 3 sets of eye drops every 15 minutes, it was off to the OR.

About 2 to 2.5 hours later, Dr. McGuire came out and told us the procedure was as close to perfect as possible.

A small incision is placed in the eye and through that incision the injection is administered. The injection sometimes needs to "fall" into place over time, or coerced into the right spots of the eye... sometimes requiring multiple injections. Luckily, in Nomaan's case, it made it right where it had to go with one single injection.

Dr. McGuire found some adhesions, which could have caused retinal tears or detachment later in life... and since he was already inside Nomi's eye, he went ahead and repaired them with a laser.

Overall, his retinal tissue looked really good which means he should respond well. 

We spent about 90 minutes in the surgical recovery room, after which time we were transferred to another recovery room for an additional 3 hours.

Now, we are back in the hotel. Nomaan is sleeping soundly. He has to wear his eye patch for 24 hours, and has positioning restrictions. He has to lie flat on his back or at a 30 degree angle while awake, and while sleeping, he needs to sleep on his right side with his face down. This is hard to ensure, but Dr. McGuire said though it is important, its not something we have to enforce rigorously.

Luckily, he is not cranky. Hes groggy and sleepy... he ate a lot, and went right back to sleep. 

Now we wait and see how he recovers... and wait for his right eye. We may or may not start seeing results within a week or so. 




The Big Day

Today is the first of Nomaans two surgeries. They begin with his left eye, and will follow with his right eye one week later.

Its sort of surreal... everything has happened so quickly in the past few months.  Prior to September, It has been 28 months of waiting, hoping, and praying. We read everything we could on gene therapy that we could find.

Now that the day has come to fruition, we are excited, anxious, and nervous.

This is truly an amazing day.




Saturday, October 19, 2013

A Letter From My Teacher

Dear Nomi,

I wanted to write to you and tell you how proud I am of you! You are doing so well in school and always trying your best. You never complain, and always ask for help when you need it. I am going to miss you while you are away. I hope you know that I will be thinking of you every day! I know the whole class is going to miss you. You have a special place in my heart and I just think you are the bravest boy ever! I can't wait to see how you are doing each and every week. When you feel a little down just think about all of us back home thinking of you. We will send lots of good thoughts you way and hopefully you will come back with some great stories to share.

I have put together a binder of things you can do, but don't think you have to do them all. I will work hard with you when you return to help you catch up. :)

See you soon buddy.

Lots of love,

Mrs. Caskey

Thursday, October 3, 2013

Jennifer

Jennifer is Gavins Mom. Today, on the Gavin's Groupies Facebook page, she shared something that I had to share with all of you. It epitomizes exactly how Beenish and I feel. Thank you for sharing Jennifer.
"One of the questions I received in an email from Jeremy was:
How has your family accepted the diagnosis of blindness, and how do you address it with Gavin?

Our answer:
The onset of the diagnosis was very devastating. We went through a variety of emotions, which has brought us to where we are today. At one point, when we were visiting Children's Hospital frequently for testing/appointments, I began to feel that I didn't deserve to feel sadness for him. I saw so many sick children at the hospital with life threatening conditions, as well as personal family loss. I began to not address the emotions, and felt guilty about them. As a family we were referred to a child psychologist, to help deal with those emotions as a family, and it made a world of difference. I began to feel ok with the fact that I was terribly sad for my son, and I think I finally grieved that last portion towards his second birthday. We still get waves of emotion, but it doesn't hold us down for long. Initially I had no idea what the quality of life there was for Gavin, and part of that was me being uneducated in the blind community, just because I wasn't connected to it anyway. Today, I know Gavin will live a full life, independently, and we give him the tools every day to do just that.

As far as addressing blindness for Gavin... I look at blindness as a characteristic of our son. You won't see me calling him my "blind son"- his blindness does not define him. He is my son, a wonderful, talented, loving, happy, 5 year old, who is also blind. We use the word "blind" in our home, from the very beginning, we have owned his blindness - as a family. He's beginning to understand a little more about his role, and how he does things differently, but he also hasn't asked what "blind" is. I'm sure we will get there, and have that discussion, when he is ready. We use the words 'see', 'look', and so on. They just have different meanings to him. We've never changed our language around him, nor have we ever given him special treatment (outside of his special needs). Those who know us, know he can give us a run for our money!"
 
 
 

October is Blindness Awareness Month

October is blindness awareness month, and it seems fitting that this is the month in which Nomaan will be receiving his treatment. He is scheduled for his surgeries on 10/24 and 10/31.

During this month, it's important to spread awareness and raise funds for research.  Its donations from people all over the world that have led us to this point, and we feel its our responsibility to help others like Nomi. As our friends, we call on you to help. Please reach deep into your hearts and pocket books and help those who need us. Any donation, big or small, can help a child.
In my last blog post, I have listed a charity auction where the proceeds will benefit LCA research. I also have provided links on this blog to eye and LCA related charities. If you still aren't sure or don't know where and how to donate, feel free to call me or reach out via Facebook or email.

And as always - please keep Nomi in your prayers.





Saturday, September 28, 2013

Charity Auction for LCA

Our very good friend, Sonia Naz is an amazing artist.

She has graciously decided to sell her latest work, "the deep dark altered world," and donate all the proceeds to LCA research.


Her husband, Ednan, has put the painting on Ebay.

Cut and place the link in your browser to place your bids!

http://www.ebay.com/itm/-/131006219574?roken=GP0LcB

Not only will you be helping people with LCA, but you will also have a beautiful painting to hang in your home.




Thursday, September 26, 2013

Some Pics from Baseline








After the Baseline

The baseline went well. Nomi was a real trooper. He has undergone many tests for the past 4 days. He has had his moments, as we expected based on the last time we were here. He hated the eye patching, blood draws, and eye drops, but other than that, he held it together. He completed all the necessary tests.

Today, during the testing, we had an opportunity to meet Christian Gaurdino. He is a 13 year old boy from Long Island who was diagnosed with LCA due to RPE65 when he was 6 months old. 
Christian had the procedure done earlier in the summer. He was in town for his 90 day post op follow up. 

Speaking to Christian and his mom Beth was great. It was nice to see a family going through the exact same process as us. Hearing him speak of his vision before and after left us feeling optimistic and hopeful. The most poinigant moment came when Christian described seeing the moon for the first time, describing it as "amazing". It brought tears to my eyes.  

As people with sight, we have all seen the moon hundreds of times, and we all take it for granted. Hearing him simply call it "amazing" really does describe it in a way I never could. I don't think I will ever  look at the moon the same way. 

Beth will share Christians story with us, and I will be sure to post it to the blog for all to read. 

Here is a picture of Nomi and Christian. 




All of Nomis tests went as expected. There were a few inconsistencies in his blood work. This does not interfere with his eligibility for the study, but it does require some repeat labs tomorrow. The fear is that if something is uncovered after the procedure, the FDA May feel the procedure caused it. So it's important to make sure nothing is wrong, or if it is, to know of it beforehand. 

The big question that was to be answered this trip was the randomization. Was Nomaan going to be in group 1, or would we have to wait 12 months?  At around 3:00pm today, they told us. 

I am pleased to say, that Nomi was placed in the immediate intervention group, group 1. 

Inshallah, Nomi will have his left eye treated on October 24th, and his right eye treated on October 31st. 

This his been a very long, emotionally taxing journey. We are finally at the finish line. We could not be happier. Allhumdullilah.