I dont post here as often as I want to. I think about it. I even "write" posts in my head. But life is so full that by the time I sit on the couch at night, I am exhausted.
G is doing great. I feel like Marfan Syndrome has woven itself into her life now and its okay. We are fine. The world didnt crumble around us and we are moving forward.
Monday, October 6, 2008
Thursday, July 24, 2008
Thank You Doc
What a devastating loss for the Marfan community. Because of this one man, we know how to manage Marfan Syndrome, what to look for, and that those affected with the syndrome can still have full lives.
He diagnosed B when he was a child and he taught G's doctor everything he knows so we are actually feeling the loss pretty personally. The memorial service is Saturday August 2. Maybe we will go. Its only an hour away. Maybe we will go to honor what he has done for the Marfan community and to thank him for his work....his work that will never be forgotten by all those with Marfan.
Tuesday, July 22, 2008
Joining the Club
Another appointment which means another drive to Baltimore.
2 more weeks until my little girl joins the club.....you know, the Glasses Club. Her lenses are dislocated and so we are heading back to Hopk.ins to see the eye specialist who works with Dr. Die.tz for an evaluation.
The 2 eye docs we have seen in Norther.n VA both said that surgery to remove the lenses is our only option. I was devastated to hear that. It was hard enough to hear the news that G does in fact have Marfan Syndrome but that I could rationalize and handle. I couldn't and still can't handle surgery as our only option. There has to be something else to try before going to that extreme, especially on a 4 year old child.
And there is.
Apparently, there is success with glasses and no surgery on children with dislocations similiar to G's. Before committing to 2 surgeries on my little girl, we are going with glasses only.
But I am nervous. What if this eye specialist sees something that would prevent that treatment route? What if he tells us that we have to do surgery? B had the same surgery 30 years ago and he is okay. But I just cannot imagine watching doctors take my 4 year old baby into surgery....twice since they only do one eye at a time. I just cannot handle that.
So let's think happy positive glasses thoughts. G will be adorable in her pink glasses with Princess written down the sides!
2 more weeks until my little girl joins the club.....you know, the Glasses Club. Her lenses are dislocated and so we are heading back to Hopk.ins to see the eye specialist who works with Dr. Die.tz for an evaluation.
The 2 eye docs we have seen in Norther.n VA both said that surgery to remove the lenses is our only option. I was devastated to hear that. It was hard enough to hear the news that G does in fact have Marfan Syndrome but that I could rationalize and handle. I couldn't and still can't handle surgery as our only option. There has to be something else to try before going to that extreme, especially on a 4 year old child.
And there is.
Apparently, there is success with glasses and no surgery on children with dislocations similiar to G's. Before committing to 2 surgeries on my little girl, we are going with glasses only.
But I am nervous. What if this eye specialist sees something that would prevent that treatment route? What if he tells us that we have to do surgery? B had the same surgery 30 years ago and he is okay. But I just cannot imagine watching doctors take my 4 year old baby into surgery....twice since they only do one eye at a time. I just cannot handle that.
So let's think happy positive glasses thoughts. G will be adorable in her pink glasses with Princess written down the sides!
Tuesday, July 15, 2008
A New Calm
It has been awhile. Too long really.
The past month has been an emotional roller coaster for us. Except that roller coasters end; this one will not.
After phone calls and emails, we got G an appointment at Joh.n Hopk.ins U with Dr Ha.l Di.etz. He and I have exchanged emails for the past 5 years (since we found out I was pregnant) about getting a definite diagnosis.
On June 27, we got just that. G has Marfan Syndrome. Her lens are dislocated 30% and her aorta z-score is 2.2. And she has flat feet. Other than those symptoms, she is completely healthy. She adored Dr. Diet.z, even used his measuring tape to measure Mommy and Daddy after he was done taking all her arm span and leg length measurements.
During the drive to Balti.more, we talked about anything BUT Marfan. On the way home, a new sense of calm appeared. I spent a few days trying to figure out why that was. And now I know...and it seems like the simplest thing that we have been searching for these past 4 years; for the first time ever, we met with a doctor who knew what he was talking about and could actually answer my questions about Marfan without Go.ogl.e's help.
And that alone made me feel better.
The past month has been an emotional roller coaster for us. Except that roller coasters end; this one will not.
After phone calls and emails, we got G an appointment at Joh.n Hopk.ins U with Dr Ha.l Di.etz. He and I have exchanged emails for the past 5 years (since we found out I was pregnant) about getting a definite diagnosis.
On June 27, we got just that. G has Marfan Syndrome. Her lens are dislocated 30% and her aorta z-score is 2.2. And she has flat feet. Other than those symptoms, she is completely healthy. She adored Dr. Diet.z, even used his measuring tape to measure Mommy and Daddy after he was done taking all her arm span and leg length measurements.
During the drive to Balti.more, we talked about anything BUT Marfan. On the way home, a new sense of calm appeared. I spent a few days trying to figure out why that was. And now I know...and it seems like the simplest thing that we have been searching for these past 4 years; for the first time ever, we met with a doctor who knew what he was talking about and could actually answer my questions about Marfan without Go.ogl.e's help.
And that alone made me feel better.
Saturday, June 28, 2008
Diagnosis Confirmed - Letter to my Family and Friends
It has been a pretty hectic month here.
This weekend, we confirmed that G, like her Daddy, has Marfan Syndrome, a genetic connective tissue disorder. We visited Joh.n Hopkin.s H.ospital and met with the world's best Marfan Syndrome doctor. She has a mild case (if that's possible) of the disorder but we are monitoring closely to make sure it stays that way.
Its hard to type this out and talk about it every time the phone rings. So, I apologize for the repeativeness if you have already read the following (I am copying it from an email sent to our family this weekend).
I realize that the news of G's Marfan Syndrome diagnosis is very emotional for everyone. It is for us as well (though I think that's obvious). I also realize that it may be a little easier for us to deal with because B and I have done so much research so that we can understand the syndrome. For me, I need that so that I can feel better about both B's and G's health, now and in the future.
Marfan Syndrome is a fairly rare syndrome, though we read recently that it is one of the most common inherited connective tissue disorders. There is so much more information available now than there was when B was diagnosed in the mid/late 1970s.
Here are some links to help you understand the syndrome. If you have any questions about it, please ask. As you read some of the reports and findings about Marfan Syndrome, please remember that G (and B) are mild cases of Marfan - if that is really even possible. Marfan's tends to mimick itself within a family; G's case will most likely be similiar to B's. See----silver lining can be found if you just look for it! :)
Again, thank you for your support---just knowing that you all love G is enough for us. We love you too!
National Marfan Foundation
Characteristics of Marfan Syndrome
Treatment Options
Pediatric Marfan Information
Ocular Concerns G's lenses are subluxated. 2 eye doctors in our area want to remove them and put her in glasses. Dr. Diet.z has strongly discouraged this procedure at this point. We will be visiting the eye clinic at Jo.hn Hopki.ns to get G glasses that will correct her vision without removing the lenses. Surgery will always be the last resort. Later in her life (late teens), lens replacement could be possible but that is far down the road.
Cardiac Concerns G has a slightly enlarged aorta and will be taking At.enolo.l to stop/stall the growth of the aorta. In 3 months, we will visit the doctor again to make sure she has the right dosage.
G's doctor at Joh.n Hopkin.s is Dr. H.al D.ietz. He is the Chair of the Professional Advisory Board for the National Marfan Foundation and is the world reowned expert on Marfan Syndrome. We want the best doctor in the world for G and we got him! Dr Die.tz is also getting a genetic profile from B so that he can isolate the actual gene mutation.
So thats is that. We have confirmed what we knew deep in our guts for years. We are okay. Its not the outcome we dreamed of but it is what it is. Grace will have a fabulous life and Marfan Syndrome will just be a part of it.
This weekend, we confirmed that G, like her Daddy, has Marfan Syndrome, a genetic connective tissue disorder. We visited Joh.n Hopkin.s H.ospital and met with the world's best Marfan Syndrome doctor. She has a mild case (if that's possible) of the disorder but we are monitoring closely to make sure it stays that way.
Its hard to type this out and talk about it every time the phone rings. So, I apologize for the repeativeness if you have already read the following (I am copying it from an email sent to our family this weekend).
I realize that the news of G's Marfan Syndrome diagnosis is very emotional for everyone. It is for us as well (though I think that's obvious). I also realize that it may be a little easier for us to deal with because B and I have done so much research so that we can understand the syndrome. For me, I need that so that I can feel better about both B's and G's health, now and in the future.
Marfan Syndrome is a fairly rare syndrome, though we read recently that it is one of the most common inherited connective tissue disorders. There is so much more information available now than there was when B was diagnosed in the mid/late 1970s.
Here are some links to help you understand the syndrome. If you have any questions about it, please ask. As you read some of the reports and findings about Marfan Syndrome, please remember that G (and B) are mild cases of Marfan - if that is really even possible. Marfan's tends to mimick itself within a family; G's case will most likely be similiar to B's. See----silver lining can be found if you just look for it! :)
Again, thank you for your support---just knowing that you all love G is enough for us. We love you too!
National Marfan Foundation
Characteristics of Marfan Syndrome
Treatment Options
Pediatric Marfan Information
Ocular Concerns G's lenses are subluxated. 2 eye doctors in our area want to remove them and put her in glasses. Dr. Diet.z has strongly discouraged this procedure at this point. We will be visiting the eye clinic at Jo.hn Hopki.ns to get G glasses that will correct her vision without removing the lenses. Surgery will always be the last resort. Later in her life (late teens), lens replacement could be possible but that is far down the road.
Cardiac Concerns G has a slightly enlarged aorta and will be taking At.enolo.l to stop/stall the growth of the aorta. In 3 months, we will visit the doctor again to make sure she has the right dosage.
G's doctor at Joh.n Hopkin.s is Dr. H.al D.ietz. He is the Chair of the Professional Advisory Board for the National Marfan Foundation and is the world reowned expert on Marfan Syndrome. We want the best doctor in the world for G and we got him! Dr Die.tz is also getting a genetic profile from B so that he can isolate the actual gene mutation.
So thats is that. We have confirmed what we knew deep in our guts for years. We are okay. Its not the outcome we dreamed of but it is what it is. Grace will have a fabulous life and Marfan Syndrome will just be a part of it.
Friday, May 23, 2008
Coasting
The past 2 weeks have been a whirlwind.
$120 in doct.or co-pays and we are at the same place we were last Tuesday. Although a bit calmer, we dont have any more answers than we did then.
The eye surgeon agreed with the eye doctor who initially diagnosed G with Marfan Syndrome. Her lenses are dislocated and need to be removed soon to preserve her otherwise good vision. Thanks Doc; I have been in your 3 waiting rooms for 2 hours and that is all you have to say!?
After a few emails and phone calls, I finally got in touch with Joh.n Hopk.ins Comprehensive Marfan Center. Now Iam waiting (yep, more waiting) to hear back from the genetic counselor for a family history conversation and setting up an appointment for G.
Actually, I am really looking forward to that. I know it will be a long, emotional day but I feel like at least we will get some answers and formulate a plan. Without a plan, I am hopeless.
For now, we are just coasting.
$120 in doct.or co-pays and we are at the same place we were last Tuesday. Although a bit calmer, we dont have any more answers than we did then.
The eye surgeon agreed with the eye doctor who initially diagnosed G with Marfan Syndrome. Her lenses are dislocated and need to be removed soon to preserve her otherwise good vision. Thanks Doc; I have been in your 3 waiting rooms for 2 hours and that is all you have to say!?
After a few emails and phone calls, I finally got in touch with Joh.n Hopk.ins Comprehensive Marfan Center. Now Iam waiting (yep, more waiting) to hear back from the genetic counselor for a family history conversation and setting up an appointment for G.
Actually, I am really looking forward to that. I know it will be a long, emotional day but I feel like at least we will get some answers and formulate a plan. Without a plan, I am hopeless.
For now, we are just coasting.
Monday, May 19, 2008
Consult
After a week of feeling sad and angry, this weekend I found myself turning on the automatic pilot. I am the mom and G is looking to me to find the best doctors and make the right decisions. There is no time for self pity.
Today we took G to see an eye surgeon for a second opinion on whether surgery is necessary. It went as planned.....a lot of waiting and 15 minutes with the actual doctor. The entire appt (including waiting) took 3 hours! Ah, doctors and time.
We did not schedule surgery.
Over the weekend, I got an email from a doctor at John Hopkins Marfan Center. We are now waiting to hear from the genetic counselor and then we will go up to MD for another consult and full Marfan evaluation.
So again, a day of a lot of questions and not many answers.
Today we took G to see an eye surgeon for a second opinion on whether surgery is necessary. It went as planned.....a lot of waiting and 15 minutes with the actual doctor. The entire appt (including waiting) took 3 hours! Ah, doctors and time.
We did not schedule surgery.
Over the weekend, I got an email from a doctor at John Hopkins Marfan Center. We are now waiting to hear from the genetic counselor and then we will go up to MD for another consult and full Marfan evaluation.
So again, a day of a lot of questions and not many answers.
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