I started this blog for me. The intention was to give myself a place to "talk" about Marfan Syndrome and maybe one day have this blog reach others living with Marfan as well. But I have not taken very good care of it, have I? The last post was from 4 days into B's most recent surgery recovery. That seems so long ago already.
How about a quick "catch up"?
Me: Today is March 5 and I feel like the next few months, though the calendar is busy, are going to be good ones. Not without challenges (more on those later!) but good times are ahead of us!
B: Amazing recovery from his aortic valve replacement surgery in November. The scar is looking better each day and we are getting used to the sound of the mechanical valve. He is back at work full time; he actually started working again after 10 weeks at home.
G: She is about the have a birthday - I cannot believe she is 6 years old. No changes medically for her since the last appointment in Baltimore.
And so, I give this blog a fresh start. Starting tomorrow morning. We shall simply pick up there.
Showing posts with label Diagnosis. Show all posts
Showing posts with label Diagnosis. Show all posts
Friday, March 5, 2010
Friday, October 2, 2009
Hubby's Marfan Report Card
So last month's visit to Hopk.ins was great for G - an A+ for her.
Hubby got an F. A big fat red, bold, italicized F.
Besides a sleep study, monitoring his left kidney function, and a weight loss program, Hubby will be going under the knife again......very soon. In 2007, he had his descending aorta repaired after a dissection that occurred in 2002. Now, 2 1/2 years later, we are preparing for surgery on his ascending aorta and his aortic valve. We knew this surgery was coming - just thought we had more time.
I have Googl.ed. I have researched the surgeon over and over (so cool that he has his own page on Wiki.pedia!!). We have looked at the different kinds of procedures. And all I have are more questions.
On Tuesday, we meet the surgeon and get some answers. And then the planning begins for the recovery. Because for me, the caretaker, the time in the hospital is the easiest part - its the three month recovery at home that is the most challenging.
Hubby got an F. A big fat red, bold, italicized F.
Besides a sleep study, monitoring his left kidney function, and a weight loss program, Hubby will be going under the knife again......very soon. In 2007, he had his descending aorta repaired after a dissection that occurred in 2002. Now, 2 1/2 years later, we are preparing for surgery on his ascending aorta and his aortic valve. We knew this surgery was coming - just thought we had more time.
I have Googl.ed. I have researched the surgeon over and over (so cool that he has his own page on Wiki.pedia!!). We have looked at the different kinds of procedures. And all I have are more questions.
On Tuesday, we meet the surgeon and get some answers. And then the planning begins for the recovery. Because for me, the caretaker, the time in the hospital is the easiest part - its the three month recovery at home that is the most challenging.
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.
Wednesday, May 14, 2008
History of Us
I feel like I have to qualify myself to write this blog. I know its my blog and I dont really have to but it feels good to look back sometimes. To acknowledge what we have experienced and what we have survived. Its cliche but it does make us stronger.
In 2001, I met the most hysterical, supportive, nicest guy ever. His name was B. We hit it off immediately.
In 2002, B called me from work to tell me he was going to the hospital and he wasnt sure what was wrong. He just knew something was seriosuly not right with him. Thank God he made that call and that the ER doctor listened to the crazy girlfirend (that's me!) about Marfan Syndrome. After a CT scan, it was determined that B was in the midst of a descending aortic dissection. A short helicopter ride later, he was in the ICU at a fabulous hospital for 8 days. That was the first introduction I had to Marfan-related issues.
After getting married, we welcome G into our hearts and lives in 2004. She is the light of our lives and yes, the world that we live in does actually revolve around her. :)
Just this week, Monday to be exact, we took G to the eye doctor. For the past few months, I noticed her eye turning in sometimes. I had "lazy eye" as a kid so that is what I thought it was. Even with all the years of researching and preparing, we werent ready to hear the words "Dislocated lenses. Yes, G has Marfan Syndrome as well".
And here we are today.
In 2001, I met the most hysterical, supportive, nicest guy ever. His name was B. We hit it off immediately.
In 2002, B called me from work to tell me he was going to the hospital and he wasnt sure what was wrong. He just knew something was seriosuly not right with him. Thank God he made that call and that the ER doctor listened to the crazy girlfirend (that's me!) about Marfan Syndrome. After a CT scan, it was determined that B was in the midst of a descending aortic dissection. A short helicopter ride later, he was in the ICU at a fabulous hospital for 8 days. That was the first introduction I had to Marfan-related issues.
After getting married, we welcome G into our hearts and lives in 2004. She is the light of our lives and yes, the world that we live in does actually revolve around her. :)
Just this week, Monday to be exact, we took G to the eye doctor. For the past few months, I noticed her eye turning in sometimes. I had "lazy eye" as a kid so that is what I thought it was. Even with all the years of researching and preparing, we werent ready to hear the words "Dislocated lenses. Yes, G has Marfan Syndrome as well".
And here we are today.
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