Wow... what a year!!!!

It has been a long year in the Reeves' household for 2011.


To recap, it kind of looked like this: recommending eye surgery for Rebekah, Marfan Syndrome diagnosis, enlarged aorta diagnosis for Casey, taking back the Marfan diagnosis with a new diagnosis of Ectopia Lentis et Pupillae, deciding on NO surgery for Rebekah, loss of a great bookstore and a 10 year job at Borders for Deanna, Casey's back goes out and has weeks attempting epidural injections, failed injections lead to back surgery.....I think I have covered it all! - I hope!

They say that what doesn't kill you makes you stronger, right? Well, we survived so we must be stronger now.

After these many months of a very long rollercoaster ride, I am so excited to say we have ended the year on 2 very exciting and proud accomplishments!

Last week, Casey graduated with his Associates in Business Management from McHenry County College! There are several reasons for this being so wonderful.

1. It is not easy to go to school while working full time and having a family with small children, but to do it with high honors is amazing! It takes a lot of work and time away, but he did it.

2. It means that we are at the half way mark. He will continue to take classes and will be working towards his bachelor's degree.

3. He is the 1st person in his family to have a college degree! Congratulations on starting a new trend in the Reeves family!

Congratulations Casey! We are so proud of you!

Now on to our 2nd piece of big news! Most of you who have ever met Rebekah know how bright she is! Well, after having some testing done, it has been confirmed that she is FAR ahead of where most kids her age are at. She is reading at a 3rd grade level and is at a 1st or 2nd grade level in most of the other areas tested. That being said, she will be starting kindergarten in January!

We knew it was coming, but now that the offical word has come in and is confirmed, it makes it so much more real. When she was born in November, my first thought was that I would be able to keep her around for an extra year because she would miss the deadline... well, she sure did prove me wrong. As ready as she is to start kindergarten, I can't believe my baby girl is soooo big already. Rebekah is one of the most amazing little girls and we are so proud of her. We can't wait to see all the great things she is going to accomplish!

It has been quite a year for us and we are so happy to end it on such a positive note, but we want to say thank you to all of you who have been supporting us in so many ways. We couldn't have gotten through it all with out you! We are truly blessed for all the wonderful people in our lives!

And for those of you who are wondering how Aaron is doing... the answer is: Great! He is keeping us on our toes and growing as little boys should!

Love,

Casey, Deanna, Rebekah and Aaron

Back to the Back

Casey has had 2 epidural injections over the past several weeks and unfortunately they did not prove to work. He is still in a lot of pain. He is scheduled for back surgery on Monday, November 14. Please keep him in your prayers to get through the next 5 days until he can get some relief.

Thanks for your support!
Deanna

Good News and More Prayers

The Good News

Aaron had his 1st echo cardiogram yesterday and did GREAT! He was still and very cooperative! The best part of the day was to find out that everything with his heart is NORMAL!! Yahoo!!! He does not have to have a follow up for 3-5 years! We are very grateful for this news!

More Prayers Needed

As some of you know Casey had surgery to fix a herniated disc is his lower back 5 1/2 years ago. The past several weeks he has been having some pain in his back. This past week the pain has been excruciating for him. He had an MRI and found out the disc is herniated again. The doctor wants him to have an epidural injection to see if they can fix things that way. If this works, then GREAT; if not, we will be talking back surgery again. So, please, if I can ask for more prayers; keep Casey in mind and lets hope he can get through this without having to go the surgery route!

I hope all is going well with everyone and you are enjoying this beautiful fall!

Thank you again for all your prayers and support - we are definitely feeling all of them!!

Love,
Deanna

Everything Happens for a Reason

I am going to do my best to give you all the new information we have; hopefully without being too confusing. If you remember from my last post we had another genetic test done on Rebekah because the Marfan Ophthalmologist we saw thought Rebekah had a different disorder. Well, the results are in....

Rebekah does NOT have Marfan Syndrome. She has a disorder called Ectopia Lentis et Pupillae which is very rare. This disorder ONLY affects her eyes. This could potentially be a huge relief for us because it means that the dilation in her aorta could stabilize and never get worse, or it could normalize and she may never have any issues. However, because Casey has dilation in his aorta as well; it also means that Rebekah may just have 2 separate issues going on. Basically, we will still proceed as before and she will have another echo cardiogram next June and we will just keep watch on it year after year.

Again, because Casey has the dilation, Genetics is recommending Aaron have an echo cardiogram now instead of waiting, so they have a baseline to go off of for him.

There was a part of us that was a little angry with having been told our daughter has Marfan Syndrome, only to find out a few months later that she does not. We went through a lot wondering what a future of Marfan would look like for our little girl and our family. Then we really thought about it all and now can see how it has all happened for a reason and brought us right where we need to be.

Every person has a pair of each gene in his/her DNA. In order for for a mutation to occur in Rebekah for Ectopia Lentis et Pupillae, it means that both Casey and I have one defective gene in our pair. Then, even with that, she had a 25% chance of having the mutation to cause the condition. WOW... crazy odds huh? That Casey and I both have a defective gene for this rare disorder and then that she only had 1 in 4 chances of getting it!

IF...

Casey hadn't married me and my defective gene; Rebekah hadn't gone against the odds and contracted the mutation; Rebekah's eye hadn't started wandering; Rebekah hadn't show dilation in her heart and received the Marfan diagnosis...

THEN...

We may have not second guessed the surgery; we may not have gone looking for another opinion with the Marfan Ophthalmologist, who ultimately gave us the correct diagnosis; Casey would not have found out about his heart.

We are grateful and blessed that we will still be able to use the National Marfan Foundation for information and help because they also support related disorders. We will still be at Children's Memorial for Rebekah's Cardiac check ups. Our only concern now is finding an Ophthalmologist who is familiar with this new condition. The Doctor who diagnosed her is only in research and not currently seeing patients. She is however, helping us find a new Ophthalmologist, who may be more familiar with Rebekah's condition.

So, waiting year after year for each of Rebekah's echo cardiograms and Casey's too, will be daunting, but we will wait and know that our journey this far has brought us to the exact spot we are supposed to be in. We are learning patience, trust and that everything happens for a reason; we just don't always find out why right away.

Most of us are always trying to be so perfect; to do the right thing; to say the right thing; to act the right way; to look the right way. We don't want our differences to stand out or our faults to show, but it was Casey and my 'defects' that came together to lead to the series of events that may have saved his life!

Thank you all so much for your prayers, love and support. We are in a pretty good place with all this and are learning how to move forward with all our new information. I will put a brief update after Aaron's Echo cardiogram, which we will probably do in the next month. Other than that, I am hoping we will not have any new information to share until Casey has his MRI in February and Rebekah's Echo next June. Of course, if anything comes up in between, we will definitely keep everything updated, but we are hoping for several uneventful and quiet months after the last few crazy ones.

Love,
Deanna, Casey, Rebekah and Aaron

Expect the Unexpected

Soooo... where do I begin.

We were able to get an appointment with the Ophthalmologist who specializes in Marfan Sydrome very quickly. Rebekah, Casey and I took the train to Chicago a couple weeks ago for the appointment. It was much better than the stress of driving and parking and a great diversion for Rebekah. She loved that she didn't have to be in a car seat. We were also able to take her to Millennium Park to see the bean and play in the fountain. We left this appointment confident in one decision and totally confused with other information we received.

I will start by saying we are totally confident in the fact that we are going to hold off on eye surgery for a while. Hopefully this wont have to happen until she is a teenager. Rebekah will need to have her lenses removed at some point in her life. She is currently in the best prescription possible for her, but in the left eye that is not saying too much because she still can't see very well at all. However, her vision is very correctable in her right eye and when the 2 eyes work together she functions extremely well.

Ok, so on to our confusion...This Ophthalmologist, Dr. Maumenee, who has seen thousands of Marfan patients and is board certified in medical genetics, thinks that based on the shape of Rebekah's lenses, the way they are shifted in her eyes and a few other things, that it is possible that Rebekah could have a different genetic disorder called Ectopia Lentis et Pupillae. HUH??? This disorder would only affect her eyes, which doesn't account for the dilation in her heart but something else we now have to look at. We are in the process of getting paperwork filled out to have more genetic testing done for this disorder. So, before I give you my conclusion for all of this let me tell you about the rest of that week.

If you remember, in one of our past posts, I said that Casey and I had to have Echo cardiograms to make sure we were "OK". Long story short (as short as I can). My echo came back normal. Casey's echo showed that his aortic root was measuring on the high side of normal. Because Marfan Syndrome is still a question we needed to get this further checked out. Two days after Rebekah's appointment, Casey and I got back on the train and went to Northwestern Memorial Hospital to see an adult cardiologist. She was not concerned with anything she saw during his exam but wanted him to have a MR done to get a more accurate picture of his heart. Needless to say, they couldn't get him in that same day so 3 days later, Casey got on the train once again and headed down for his 1 1/2 hour test in the tight tube of an MRI machine. These scans showed that Casey has mild dilation in his ascending aorta and aortic root (where the aorta meets the heart). The cardiologist is starting him on beta blockers to slow his heart rate and blood pressure so the heart doesn't have to work so hard to pump the blood and in essence, slows the dilation process. He will have another MR done in 6 months. If there is no increase in dilation then he will just go for regular maintenance exams and scans every 6 months to 1 year. If there is an increase, then other options will be looked at. So, in the mean time, please don't call Casey to help you move all your heavy furniture or be your spotter as you bench press 200 pounds.

So, to conclude we have a couple options...

1. Casey also may have Marfan Syndrome
2. Rebekah has just this eye issue and there is some other genetic heart disorder that is affecting both of them.
3. ???? Leaving it open because it seems like the unexpected has been popping up a lot lately!

I know you all are already doing this, but please keep the loves of my life in your thoughts and prayers! Now it will be a waiting game again until we can get this other genetic test done for Rebekah and then wait to see what Casey's scans say in another 6 months.

To end on a positive note, we are looking at it like this... Rebekah may have just saved her Daddy's life and for that we are GRATEFUL!

Love,
Deanna

Blessings

So the last couple weeks have been very emotional as we are trying to take in all this information and trying to understand how move forward. Many of the emotions have been that of being scared, nervous, fearing the unknown and what's to come. However, some of the emotions have been due to good news and lots of support.

Since our last post, Aaron has had his eye appointment and he passed with flying colors!!! Everything looks great! However, he did face-plant off his stroller on the floor of the waiting room and got a bloody nose, bloody mouth and fat lip. He is fine and his nose is a little swollen and slightly purple, but I think it is all part of his journey into boyhood - lots of bumps and bruises! :-)

As for some of Rebekah's news...going into Rebekah's appointment with the eye surgeon, we were prepared for him to recommend surgery and pretty much figured that it would be the next step. However, after sitting on that recommendation for a couple days and realizing that now we had Marfan Syndrome to consider in this, we decided her eyes are TOO precious to jump into surgery. This Dr. is probably great at what he does and has been in practice for 20 years but has only done about 20 surgeries like what he is recommending for Rebekah, which is not a big enough number for me and we wanted someone who KNEW Marfan Syndrome, so I decided to start reaching out.

Marfan Syndrome has a Foundation and that is where I started!!! I spoke with a couple of parents with kids with Marfan and heard their stories and they listened to mine. They also have a community online similar to Facebook, for people with Marfan and people who LOVE people with Marfan. I created a profile and joined a group for dislocated lenses and started asking questions. Several people shared their experiences with having the surgery and why or why not they were glad they did it. One mom shared her daughter's story that is very similar to Rebekah's and how they decided not to do surgery and her vision is getting better several years later with exercises on the computer and better glasses. I was overwhelmed by all the responses I received and how quickly they came in.

I also spoke with the Nurse on staff at the National Marfan Foundation. She got me in touch with the Ophthalmologist on their Medical Advisory Board, who is an expert in Marfan Syndrome and who happens to be doing research at the University of Illinois in Chicago. I spoke with her a couple weeks ago and based on what I told her she said she would NOT recommend surgery. Because she is currently doing research, her license is not current, but she recommended another Dr. there who could see her who is also very familiar with Marfan Syndrome. She also said that she would come to the appointment and take a look and is hoping to get a better prescription for her glasses. Because of Rebekah's age and her dislocation it is realllllly difficult to get an accurate refraction for her glasses, but we are going to see what happens. So now we play the waiting game. We are waiting for the two Drs. to coordinate their schedules so they can both be there to see Rebekah!!

Casey and I both feel so much better knowing we have more information and have another avenue to go down (at least for now)! The support that we have received from the Marfan community has been so incredible and we are so blessed to have this available to us; especially in this time of uncertainty!

Thank you all again for your continued prayers and support!
Love,
Deanna, Casey,
Rebekah and Aaron

Emotional

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

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!

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.