Two years ago, Rebekah saw an eye surgeon, Dr. Basti, for her lens dislocation. At that time he had recommended trying the contact lenses as a method for improving her vision before considering surgery. As we learned from our last visit with Rebekah's Ophthalmologist, the contact lenses were not improving her vision as much as we had hoped.
Today, we met with the surgeon for a re-evaluation and today...his recommendation to correct her vision is surgery. Glasses and contacts are the only two non-surgical options and they are not improving her vision enough. The concern is that the communication with the brain and the eye will be lost and the older she gets the less likely it will be to regain that communication.
The surgery will be done by a team of two surgeons, Dr. Basti who is a specialist with the lenses and the front of the eye and also by a retinal specialist to take care of the rest. If you have ever heard of lens replacement due to cataracts, it is similar, but more complex. Because of the Marfan Syndrome, the tissue that normally holds the lens in place isn't strong enough, so they have to insert an artificial lens and attach it to her retina and the outer (white) part of her eye.
The doctor is confident with the success of the surgery, but of course there are risks. It may not improve her vision, the brain communication may not get any better, she might have to have it redone later in life, and worst case, vision in her left eye could be lost all together.
So, that being said, we have to meet with the retinal specialist before we can schedule the surgery. This appointment will be at Northwestern in Chicago and chances are we will not be able to get in for a month.
We are confident in the recommendations of our doctors but are scared to death at the thought of surgery for our little sweetie!! We are not sure when and how to tell her. She is so smart, we will not be able to get away with a quick "they are going to fix your eye" without a series of questions including but not limited to: how will they do it? when will they do it? will it hurt?
What will be amazing if it all works the way it is supposed to, will be seeing her experience the world with clarity and we cannot wait to see where her artistic talents will go. She is so observant and her whole world could be opened up to new possibilities!!!!
Thank you again for all of your prayers and support!
Love,
Casey, Deanna
Rebekah and Aaron
Wednesday, June 22, 2011
Sunday, June 19, 2011
The Unexpected
On Thursday, June 9, 2011, Rebekah had her appointment with the Geneticist and her repeat echo cardiogram. We really were not worried about this appointment and had been thinking more about the appointment with the eye surgeon.
Because it was going to be no big deal, Casey went to work to get some stuff done so he could take Friday off and could relax and enjoy a 3 day weekend. My mom was going to stay home to watch Aaron but decided she would just come with because it would most-likely be just a couple hour appointment.
We left the house at 7:45 am for our 10am appointment. With the rain, traffic and parking, we walked in for our appointment at 9:55 am. You never can tell how long it will take to get into the City.
We were taken to a room very quickly and Rebekah's height, weight and blood pressure were taken. Then we went for the Echo, where the tech let Rebekah test it out herself! She likes to call it "Jelly on the Belly"! The Geneticist came in to examine her several minutes later. She noted that she showed a little looseness in her joints but nothing to worry about at this time. She then told us that as long as her Echo came back fine then she would see Rebekah again in 2 years.
Now, we were just waiting for the Cardiologist to come in with the results of the Echo. After an hour of waiting I finally asked when we would see her seeing as no one had had lunch yet. The nurse came in saying we could just eat our lunch in the room because there was still a couple more people in line before Rebekah and that the Dr. also wanted her to have an EKG. For a fleeting moment I thought it was weird that she wanted an EKG, but didn't think much more than that.
Half way through lunch the genetic counselor came in to inform us that Rebekah's Echo showed mild dilation of the aortic and pulmonary arteries. It is so mild at this point that they are not starting the medication that can slow the process and we will not have to follow up again for a year. If the dilation has increased then they will start her on a medication she will be on for the rest of her life, to slow her heart rate and blood pressure to help slow the dilation.
She also informed us that because she now has the eye and the heart issue, she does have Marfan Syndrome, which is the genetic disorder we couldn't rule out at the beginning of all this. It is a connective tissue disorder that can affect different parts of her body, but at this time only affecting her heart and eyes.
We were not expecting this at all, as we had kind of ruled it out in our own heads and thought that if this was a reality that we wouldn't know it until she go a little older. The good thing is that she is so young and catching it early is a great thing and now she can be monitored with regular check ups and be proactive with issues that arise instead of reactive. It is a pretty common disorder affecting 1 in 5,000 people. People tend to live a long, healthy life as compared to those without it, with some limitations. That being said, they know a lot and hopefully in her life time they will come up with some great advances.
Right now none of this will affect her, but later there will be no varsity sports, weight lifting, sit ups, push ups, roller coasters, scuba diving or anything where she could take a blow to the chest or put too much strain on her heart. Our blessing in this is her love for drawing and dancing. Her natural born loves and talents are calm and not active, so hopefully there will be less we have to say "NO" to.
The hard part about this, is that the symptoms affect everyone differently, so there is no way for us to know if things will get worse or stay the same, or if she will develop some of the other issues that go along with it or not. The unknown is sometimes the scariest part. She is our baby. and of course we want her to be perfect and be able to do everything she wants to do.
Because this is genetic, Casey and I also have to make sure we do not have Marfan Syndrome. We both had an Echo this weekend and will get the results later this week. Aaron has an eye exam scheduled for the beginning of July and will have an Echo only if something comes back on Casey's or mine or with his eye test. It is every possible and highly likely that it was a random gene mutation and will affect only Rebekah.
We have had our moments with all this where we say "why is this happening" but we have also had our moments where we are able to count our blessings in all this!
Our neighbor gave us the best insight that someone shared with her when her child also went though some very tough things. Look at and focus on the things that Rebekah can and will do, and not what she will not be able to do. Rebekah is an AMAZING 4 year old girl. She is reading and loves to read!! She is also an amazing artist and drawing things I will never be able to create!
We have also told Rebekah about all this, in 4 year old terms, and the response was minimal, but we wanted her to hear about it from us because I am sure she will hear us and others talking about it.
Thank you for reading our story this far and we will keep you posted. If you are curious about Marfan Syndrome, a good resource is http://www.marfan.org/.
On a side note, Aaron is doing well and starting to say more and more words every day!
Because it was going to be no big deal, Casey went to work to get some stuff done so he could take Friday off and could relax and enjoy a 3 day weekend. My mom was going to stay home to watch Aaron but decided she would just come with because it would most-likely be just a couple hour appointment.
We left the house at 7:45 am for our 10am appointment. With the rain, traffic and parking, we walked in for our appointment at 9:55 am. You never can tell how long it will take to get into the City.
We were taken to a room very quickly and Rebekah's height, weight and blood pressure were taken. Then we went for the Echo, where the tech let Rebekah test it out herself! She likes to call it "Jelly on the Belly"! The Geneticist came in to examine her several minutes later. She noted that she showed a little looseness in her joints but nothing to worry about at this time. She then told us that as long as her Echo came back fine then she would see Rebekah again in 2 years.
Now, we were just waiting for the Cardiologist to come in with the results of the Echo. After an hour of waiting I finally asked when we would see her seeing as no one had had lunch yet. The nurse came in saying we could just eat our lunch in the room because there was still a couple more people in line before Rebekah and that the Dr. also wanted her to have an EKG. For a fleeting moment I thought it was weird that she wanted an EKG, but didn't think much more than that.
Half way through lunch the genetic counselor came in to inform us that Rebekah's Echo showed mild dilation of the aortic and pulmonary arteries. It is so mild at this point that they are not starting the medication that can slow the process and we will not have to follow up again for a year. If the dilation has increased then they will start her on a medication she will be on for the rest of her life, to slow her heart rate and blood pressure to help slow the dilation.
She also informed us that because she now has the eye and the heart issue, she does have Marfan Syndrome, which is the genetic disorder we couldn't rule out at the beginning of all this. It is a connective tissue disorder that can affect different parts of her body, but at this time only affecting her heart and eyes.
We were not expecting this at all, as we had kind of ruled it out in our own heads and thought that if this was a reality that we wouldn't know it until she go a little older. The good thing is that she is so young and catching it early is a great thing and now she can be monitored with regular check ups and be proactive with issues that arise instead of reactive. It is a pretty common disorder affecting 1 in 5,000 people. People tend to live a long, healthy life as compared to those without it, with some limitations. That being said, they know a lot and hopefully in her life time they will come up with some great advances.
Right now none of this will affect her, but later there will be no varsity sports, weight lifting, sit ups, push ups, roller coasters, scuba diving or anything where she could take a blow to the chest or put too much strain on her heart. Our blessing in this is her love for drawing and dancing. Her natural born loves and talents are calm and not active, so hopefully there will be less we have to say "NO" to.
The hard part about this, is that the symptoms affect everyone differently, so there is no way for us to know if things will get worse or stay the same, or if she will develop some of the other issues that go along with it or not. The unknown is sometimes the scariest part. She is our baby. and of course we want her to be perfect and be able to do everything she wants to do.
Because this is genetic, Casey and I also have to make sure we do not have Marfan Syndrome. We both had an Echo this weekend and will get the results later this week. Aaron has an eye exam scheduled for the beginning of July and will have an Echo only if something comes back on Casey's or mine or with his eye test. It is every possible and highly likely that it was a random gene mutation and will affect only Rebekah.
We have had our moments with all this where we say "why is this happening" but we have also had our moments where we are able to count our blessings in all this!
Our neighbor gave us the best insight that someone shared with her when her child also went though some very tough things. Look at and focus on the things that Rebekah can and will do, and not what she will not be able to do. Rebekah is an AMAZING 4 year old girl. She is reading and loves to read!! She is also an amazing artist and drawing things I will never be able to create!
We have also told Rebekah about all this, in 4 year old terms, and the response was minimal, but we wanted her to hear about it from us because I am sure she will hear us and others talking about it.
Thank you for reading our story this far and we will keep you posted. If you are curious about Marfan Syndrome, a good resource is http://www.marfan.org/.
On a side note, Aaron is doing well and starting to say more and more words every day!
How did we get here?
Two years ago, in March 2009, we took Rebekah to a pediatric ophthamologist because we noticed that her left eye was "wandering" outward. After that 1st appointment we found out that Rebekah needed glasses and that there was also another issue with her eye, to which we were referred to a Dr. at Children's Memorial.
The Dr. at Children's confirmed that both of Rebekah's eyes have dislocated lenses. Her left eye has a severe lens subluxation, which means that the lens of the eye is off-center and is not attached properly. We were then referred to a surgeon, who recommended we try contact lenses to try and improve her vision. He said the surgery was too risky for a child of her age (2 yrs. old). He said if we could improve her vision by 50% with the contacts, it would be better than taking the risk of surgery. We were also advised to patch (cover) her good eye, so it would force the bad eye to work and for the brain to communicate better with it. The goal is to not lose the communication between the brain and eye, which was beginning to happen with the wandering eye.
During this time we also found out that lens subluxation is also associated with with a couple different genetic, connective tissue disorders, Homocystinuria and Marfan Syndrome. We were fortunate enough to rule out Homocystinuria with a blood test right away. Marfan Syndrome is a little different and is diagnosed by the symptoms a person has. She had an echo cardiogram and was examined by a Geneticist and there were no major concerns at that time. It was recommended that she have a repeat Echo and check up in 2 years and we would do this until she grew more (probably until puberty) and would display more symptoms. We were also told that this could very well just be an isolated issue with her eyes. We were content with this information and were now looking to improve her eye sight.
By September 2009 Rebekah was fitted for her 1st pair of gas permeable contact lenses. We picked them up just one week before Aaron made his way into our lives. She did amazing with them. Over the past 2 years Rebekah has gone through a couple pair of contacts due to her growing and eyes changing.
This spring we went for a check up and we got a new pair of lenses for her, but because her vision is so poor the lens is thick, it was not fitting her eye properly, so we ran into our 1st wall. Since we started this process, they have come up with a new technology to allow a stronger prescription in soft lenses, while allowing adequate oxygen to flow to the eyes.
During this visit her ophthalmologist informed us that over the 18 months that Rebekah has been in contacts it really hasn't improved her vision much more than her glasses. Rebekah's left eye, with her glasses on is only 20/80. This means that what you or I can see at 80 feet away, she can only see at 20 feet. Her Dr. is concerned that her vision is at the very bottom of where he would want it to be and is concerned that the older she gets the harder it will be to get the brain function back, so he recommended for us to meet with the surgeon again to have her reevaluated.
It is a good thing to be proactive and have a plan in place, so we have an appointment on Wed. June 22 to find out what the future of her eyes holds. In the meantime we are letting her choose each day whether she wants to wear her glasses or contacts and will decide after the meeting with the surgeon whether we will continue with the contacts or not.
The Dr. at Children's confirmed that both of Rebekah's eyes have dislocated lenses. Her left eye has a severe lens subluxation, which means that the lens of the eye is off-center and is not attached properly. We were then referred to a surgeon, who recommended we try contact lenses to try and improve her vision. He said the surgery was too risky for a child of her age (2 yrs. old). He said if we could improve her vision by 50% with the contacts, it would be better than taking the risk of surgery. We were also advised to patch (cover) her good eye, so it would force the bad eye to work and for the brain to communicate better with it. The goal is to not lose the communication between the brain and eye, which was beginning to happen with the wandering eye.
During this time we also found out that lens subluxation is also associated with with a couple different genetic, connective tissue disorders, Homocystinuria and Marfan Syndrome. We were fortunate enough to rule out Homocystinuria with a blood test right away. Marfan Syndrome is a little different and is diagnosed by the symptoms a person has. She had an echo cardiogram and was examined by a Geneticist and there were no major concerns at that time. It was recommended that she have a repeat Echo and check up in 2 years and we would do this until she grew more (probably until puberty) and would display more symptoms. We were also told that this could very well just be an isolated issue with her eyes. We were content with this information and were now looking to improve her eye sight.
By September 2009 Rebekah was fitted for her 1st pair of gas permeable contact lenses. We picked them up just one week before Aaron made his way into our lives. She did amazing with them. Over the past 2 years Rebekah has gone through a couple pair of contacts due to her growing and eyes changing.
This spring we went for a check up and we got a new pair of lenses for her, but because her vision is so poor the lens is thick, it was not fitting her eye properly, so we ran into our 1st wall. Since we started this process, they have come up with a new technology to allow a stronger prescription in soft lenses, while allowing adequate oxygen to flow to the eyes.
During this visit her ophthalmologist informed us that over the 18 months that Rebekah has been in contacts it really hasn't improved her vision much more than her glasses. Rebekah's left eye, with her glasses on is only 20/80. This means that what you or I can see at 80 feet away, she can only see at 20 feet. Her Dr. is concerned that her vision is at the very bottom of where he would want it to be and is concerned that the older she gets the harder it will be to get the brain function back, so he recommended for us to meet with the surgeon again to have her reevaluated.
It is a good thing to be proactive and have a plan in place, so we have an appointment on Wed. June 22 to find out what the future of her eyes holds. In the meantime we are letting her choose each day whether she wants to wear her glasses or contacts and will decide after the meeting with the surgeon whether we will continue with the contacts or not.
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