tag:blogger.com,1999:blog-8682277197150222682024-02-20T14:00:58.630-05:00Tall Like The SunflowersJust a mom and a wife managing to keep it all together with a daughter and husband with Marfan Syndrome.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.comBlogger26125tag:blogger.com,1999:blog-868227719715022268.post-39254048896907615442011-11-03T13:19:00.000-04:002011-11-16T11:37:00.059-05:00A cancellation? Yes, I will take it! UPDATEDG has been complaining the past few weeks about her legs. And her ankles. And then the other night, we were hanging out and I heard it -- her hip cracks!<br />
<br />
She has always had flat feet and her ankle joints are loose. But year after year during our visits to John Hopkins, we are told to simply watch it, that there will come a time when it needs to be treated but that we should wait to see what her body will do first.<br />
<br />
Well, today is time. Well, tomorrow to be specific.<br />
<br />
Today I called. Her pediatrician gave me the name of a great pediatric orthopedic doctor. I did some research and his resume is very impressive. So why was I SO surprised that his receptionist informed me of the 6-month waiting list at his office for new patients.
But today I was lucky. Because tomorrow there is a clinic about 30-45 minutes from our house and there was one cancellation. Did I want it? OF COURSE!<br />
<br />
Tonight, I will spend time printing out G's medical information and the hubby's too as a point of family reference when it comes to Marfan issues. I will also print out any related Marfan information that I may need at the appointment.
I have no idea what to expect at the clinic. Or what to tell G to expect. What kind of treatments should I prepare for --- could it be as simple as custom insoles for her shoes? Braces on her ankles? Who knows.
Guess we will find out tomorrow.<br />
<br />
<i>Update: Yep, typical flat feet. All joints have great flexibility and range of motion but are all tighly intact the way they should be. Her hip cracking doesnt seem to actually be cracking but a tendon next to the hip joint that "cracks" against the joint when she moves her hip in a certain direction. For now, we are trying out insoles in her shoes to see if that helps to alleviate some of the pain/discomfort in her feet. A follow up in 6 months as well as adding an ortho appt to the annual Hopkins trip.</i><br />Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com3tag:blogger.com,1999:blog-868227719715022268.post-75635680101603836212011-10-19T09:59:00.001-04:002011-10-19T10:00:33.677-04:00An Update More Than A Year LaterSo many things have happened since the last post. Seriously, it has been the most eventful year of my life. Some amazing moments...like expanding our family with the most awesome baby boy ever!!! But also the scariest moments of my life.....like when B almost died from internal bleeding.<br />
<br />
I have another blog -- one where I talk about my life as a working mom. Marfan Syndrome comes up as well over there. So in an effort to catch you up, here are links to the most important events of the past year.<br />
<br />
<a href="http://supermom04.blogspot.com/2011/04/worst-nightand-then-weekof-my-life.html">The Hubby's scary medical emergency</a><br />
<br />
<a href="http://supermom04.blogspot.com/2011_04_01_archive.html">The newest member to our family -- Baby W</a><br />
<br />
I will be back --- several posts in the works now --- G has some issues that are starting to impact her daily life and The Hubby is still recovering from his summer ordeal. And I am just trying to keep us all moving forward.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-71112515996835935222010-08-18T16:44:00.000-04:002010-08-18T16:44:19.801-04:00Annual Visit<div style="font-family: "Trebuchet MS",sans-serif;"><span style="font-size: small;">Yesterday was full of nerves - the annual visit to Hopkins for B and G's checkups at the genetics clinic. The result of the 6 hours worth of doctor appointments - status quo. And I am just fine with that. </span></div><div style="font-family: "Trebuchet MS",sans-serif;"><br />
</div><div style="font-family: "Trebuchet MS",sans-serif;"><span style="font-size: small;">G has always gotten a good report. B, on the other hand, not so much. It seems like every time we talk to someone in the medical field, Hubby needs this or that or something else. We both feel this way. This time, though, was different. While he is getting a referral to see one of the other <a href="http://www.hopkinsmedicine.org/surgery/faculty/Black">rock-star cardiologists at Hopkins</a> for a consult/review, he got a good report. No surgeries in the near future. Meds stay the same and we even got to add the miracle drug that is currently in trials for Marfan patients. (And yes, I AM that excited about adding a medication - this med is doing <a href="http://www.marfan.org/marfan/2526/Losartan-Questions-and-Answers">remarkable things for Marfan patients</a> with the kind of aorta damage that Hubby has.) </span></div><div style="font-family: "Trebuchet MS",sans-serif;"><br />
</div><div style="font-family: "Trebuchet MS",sans-serif;"><span style="font-size: small;">I woke up this morning feeling so much better. We got through it - <a href="http://supermom04.blogspot.com/2009/11/tick-tick-tick.html">surgery #2</a> is over. Yep, Hubby will tick forever but with a good report from the Hopkins docs, I feel like I can relax and move on from that whole surgery management (thats what I call my role in the procedures!). </span></div><div style="font-family: "Trebuchet MS",sans-serif;"><span style="font-size: small;"><br />
</span><br />
<span style="font-size: small;">The next hurdle starts tomorrow night. Last week B went in for a sleep study. The results were not surprising,,,,to me at least - <a href="http://www.sleepapnea.org/">sleep apnea</a> - positive. Looks like a <a href="http://www.sleepapnea.org/resources/pubs/cpap.htm">CPAP machine</a> is joining the family. Tomorrow B goes back to the sleep center for a machine test and then we bring one home. I am sure the machine will be irritating to us both but getting a real night's sleep is so important that it will be worth it. I wonder how he will feel after getting a restful nights sleep - bet he feels like a whole new person!! <br />
</span></div>Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com1tag:blogger.com,1999:blog-868227719715022268.post-13065451894505285202010-03-16T13:55:00.000-04:002010-03-16T13:55:09.389-04:00Busy DayThis morning, I checked the <a href="http://www.marfan,org/">NMF</a> site - I dont check it regularly but probably once a week or so. <br />
<br />
Well, what a busy day it is there today!<br />
<br />
TAD Coalition just launched a campaign to maximize the impact of the new diagnosis and treatment guidelines and reduce the number of deaths from aortic dissection and rupture. B had a dissection <a href="http://marfangirl.blogspot.com/2008/05/history-of-us.html">years ago</a> - it is so scary when it is happening and the more we can teach doctors and the public, the more people will survive the event. My heart breaks every time I think of John Ritter and how his passing was so preventable - but he leaves behind a legacy that now includes the <a href="http://marfan.org/cms/uploaded_files/8XJIUG81F3/89/docs/ritter%20rules%20final%203%2011%2010.pdf">Ritter Rules</a>.<br />
<br />
I also noticed this morning that NMF has posted the <a href="http://marfan.org/marfan/4602/Conference-2010">2010 convention</a> information online. I want to go. Dont necessarily have the money to take the family but I really want to go. Why? Because we have managed up to now managing B's Marfan Syndrome. Somehow we have gotten through all the surgeries in the past five years and G's diagnosis. But now, as G is growing up, I find myself wanting to be part of the Marfan community. I want another mom to call and meet for coffee who understands the struggles that Marfan Syndrome brings to a kindergarten kid. I want to be able to talk about Marfan Syndrome and what it means to me, the only unaffected person in the house. And I want to have someone who can help guide me through this - parenting and advocating for a child with Marfan Syndrome. <br />
<br />
I applied for the registration scholarship today. Because I believe that bringing my family to Houston this summer could be the start of a new journey - one where we arent alone in the Marfan path; that we are surrounded by other people who know what it feels like. <br />
<br />
Cross your fingers for us - we find out in May if we got the scholarship. Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com2tag:blogger.com,1999:blog-868227719715022268.post-17528513994005324712010-03-09T09:36:00.001-05:002010-03-09T09:37:26.894-05:00To Tell or Not To Tell?We havent really talked with G about Marfan Syndrome. She knows that she and Daddy take medicine and that they go to a special doctor in Baltimore. For two years, G has taken <a href="http://en.wikipedia.org/wiki/Atenolol">Atenolol</a> as a preventive medication. B takes a cocktail of meds, including a blood thinner now. Its just part of the morning routine. G has never really asked us what the medicine is for - she will simply tell you that it will help her be big and strong like Daddy.<br />
<br />
Other than that, we havent told her anything else. Why? Well, at first she was simply too young to even understand what we would tell her. Now that she is about to turn 6, is it time to talk with her about what Marfan is and why she takes her medicine?<br />
<br />
<br />
It's not that I want or need to hide it all from her. At some point, she needs to understand what Marfan Syndrome is and what her limitation are or could be. Right now, she really isnt on any restrictions - she is healthy - even her aortic size is in normal range. Docs tell us to keep her active and that she can do anything a normal 6 year old is doing - granted, no games that involve throwing balls at each other (like dodgeball) but those games arent allowed at school anymore.<br />
<br />
<br />
With all these <a href="http://marfangirl.blogspot.com/2010/03/school.html">assessments happening at school</a> and the therapies we are going to be starting, is it time to explain to G that she and Daddy have Marfan Syndrome and that sometimes things are going to be harder for her than other kids, like handwriting. Would that help her as she starts this school journey? Or will it simply teach her that she is different and then make her feel worse about the fact she cant do things like her classmates can (she already mentions that other kids do art class better than she does)?<br />
<br />
<br />
I dont want her going through life saying "Well, I am not good at that because of my Marfans". I want her to be a strong girl who is confident and smart and successful. So what do I tell her now to explain that sometimes things wont be easy but she can still do it all!?Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com2tag:blogger.com,1999:blog-868227719715022268.post-28927225507813938522010-03-07T13:26:00.001-05:002010-03-09T09:17:24.880-05:00School.G started kindergarten this year. I got her all dressed up the first day and sent her off to meet new friends and start her school "career". Little did I know that 100 days into the school year, she will need more help than just her classroom teacher can provide. That the principal and social worker and occupational therapist will all know us by sight.<br />
<br />
It seems that G's fine motor skills are delayed. Her handwriting is sloppy and not evenly spaced or written. Quite frankly, she would be thrilled if she never had to write a lower case letter again - for whatever reason, they are harder for her.<br />
<br />
Focusing is an issue. Staying on task. Following multi-step directions. We were even told her coloring and artwork isnt up to 5 year old standards.<br />
<br />
When I was researching Marfan Syndrome, during the pregnancy and even just last year, I always focused on the cardiac, vision, and skeletal issues - things that affect G directly. It never occurred to be to be concerned about how she held her pencil or if she was a state champion paper-cutter. Guess I should have paid more attention to those things.<br />
<br />
Her school is reacting the way I would expect - they see a child struggling and they start all sorts of assessments and therapies from OT to psychologists and speech therapists. Today we met the school social worker - sociocultural interview. If these things will help Grace thrive in school, I am all for it. <br />
<br />
I am her mom. I will fight like hell to get her the resources she needs to thrive in school, whether its as simple as larger font books and occupational therapy to develop her fine motor skills or if it means finding a school that has smaller class sizes and can give her more one on one attention. I will fight for what is the right thing for G, regardless of what it is.<br />
<br />
But inside me is a small (but loud) voice that just wants to stomp her feet and throw a Mommy-Tantrum. WHY!? Why my baby? She already has to deal with Marfan cardiac, vision, and (minor) skeletal issues - why does she need to deal with this too? Doesn't she deserve a little break so that something is easy for her!?Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com2tag:blogger.com,1999:blog-868227719715022268.post-54500149679007160452010-03-05T15:41:00.000-05:002010-03-05T15:41:51.901-05:00A Fresh StartI 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.<br />
<br />
How about a quick "catch up"? <br />
<br />
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!<br />
<br />
B: Amazing recovery from his aortic valve replacement <a href="http://marfangirl.blogspot.com/2009/11/new-ticker.html">surgery in November</a>. 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.<br />
<br />
G: She is about the have a birthday - I cannot believe she is 6 years old. No changes medically for her since the <a href="http://marfangirl.blogspot.com/2009/09/nothing-sounds-better-than-normal.html">last appointment</a> in Baltimore. <br />
<br />
And so, I give this blog a fresh start. Starting tomorrow morning. We shall simply pick up there. Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com1tag:blogger.com,1999:blog-868227719715022268.post-66325991288019774402009-11-09T20:03:00.002-05:002009-11-09T20:03:38.406-05:00Day 4Surgery recovery is hard. The incision hurts. Nurses poke with needles at all hours of night. Sleep is non-existent. Machines beep. And you have to drag an IV pole everywhere with you for days at a time.<br />
<br />
What no one tells you is how boring it can be too. You can only watch bad daytime tv for so long. Magazines get so unexciting. Yes, even the crappy gossip mags arent entertaining anymore.<br />
<br />
Today we spent time napping and reading and did some Christmas shopping research online for Grace.<br />
<br />
And tomorrow, we will probably do the same thing.<br />
<br />
We are both really looking forward to going home to our own bed, our own tv selections, and most of all, our little girl.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com1tag:blogger.com,1999:blog-868227719715022268.post-46817891044978538232009-11-08T21:24:00.000-05:002009-11-08T21:24:04.767-05:00New Ticker5 1/2 hours of waiting. Three update calls from the OR nurse. Two magazines read cover to cover and back again. Two trips to the coffee cart for more caffeine. <br />
<br />
And one really happy wife when the surgeon came out and said that the surgery went well and the patient was great!!!<br />
<br />
On Thursday, B had aortic root replacement. We had hoped going into the OR that the aortic valve could be saved - the valve-sparing procedure was just what we really wanted to do and it seemed that B was a good candidate for it with this surgeon. Once in the OR, the aortic valve was damaged - a few tears and holes in the flaps indicated that it would have to be replaced within 10 years so the surgeon decided to replace it now. A good decision as we would prefer to avoid this in the future but honestly, we were a bit disappointed. With the mechanical valve, B will need to take blood thinner for the rest of his life. You can hear the valve clicking - it sounds like a faint tick of a clock. He says that he can feel it too. Over time, we wont hear it anymore cause we will be used to the sound. However, sitting in a meeting or in an elevator, people around B will hear it. <br />
<br />
B is doing so great......22 hours after being wheeled into the OR, he was released from ICU and is now resting in the cardiac surgery unit. And it looks like we will be out of the hospital on Tuesday. <br />
<br />
<div class="separator" style="clear: both; text-align: center;"><a href="http://2.bp.blogspot.com/_F4sbaJqDIeA/Svd8xGfsYLI/AAAAAAAABUI/IFCgW7NFHdI/s1600-h/DSCN2075.JPG" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="http://2.bp.blogspot.com/_F4sbaJqDIeA/Svd8xGfsYLI/AAAAAAAABUI/IFCgW7NFHdI/s320/DSCN2075.JPG" /></a><a href="http://2.bp.blogspot.com/_F4sbaJqDIeA/Svd89prK35I/AAAAAAAABUQ/mbj0KHOv238/s1600-h/DSCN2080.JPG" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="http://2.bp.blogspot.com/_F4sbaJqDIeA/Svd89prK35I/AAAAAAAABUQ/mbj0KHOv238/s320/DSCN2080.JPG" /></a><br />
</div>Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com1tag:blogger.com,1999:blog-868227719715022268.post-42627317776815686372009-10-27T08:54:00.000-04:002009-10-27T08:54:56.913-04:00Mark the dateThe call finally came yesterday. After 3 weeks of waiting, the call lasted about 45 seconds but changed the entire month of November in our lives.<br />
<br />
Surgery date has been moved up......to November 5. NEXT WEEK!<br />
<br />
When I tell people that we finally have a date, they say "Oh thats great news!" or "Congratulations!" And I guess it is great news. Originally, surgery was in December and the docs felt strongly enough that they arranged the OR scheduled to move it up. And honestly, it was the date I originally wanted - 4 to 5 weeks after the consultation appointment.<br />
<br />
Why then do I feel paniced?! Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-42849430229990350382009-10-20T11:31:00.000-04:002009-10-20T11:31:13.780-04:00A TeacherWe have started telling our friends and co-workers about the upcoming surgery. We didnt tell too many people when we were first told that we needed to start talking to the surgeon and making decisions. Its hard to tell people that you are having surgery when you dont have any information like when, where, and specifics about why and what the surgery is. And so, we told our immediate family and that's it.<br />
<br />
Now, we still dont have a firm date but we know that it is sometime between next week and December 2. Seriously, that's all we know. At this point, we are on the surgery calendar for December 2 but the genetics doc and surgeon are working to move that date closer. And so, we wait for that phone call or email. <br />
<br />
In the meantime, we are preparing. Dentist visits to check for gum infections. Flu shots to prevent the family from getting sick during recovery. Not RSVPing to any invitations because we have no idea if we can go to events. <br />
<br />
But most of all, I find myself teaching. My friends, family, co-workers. Everyone I tell about the surgery it seems. Heart surgery - everyone gets that part of it. But throw in a term like "Marfan Syndrome" and the glossy look spreads across their eyes because they have no idea what that is. I think I have developed a pretty good "elevator speech" for describing the condition. <br />
<br />
Sometimes I get tired of explaining it. Sometimes I just want them to already know about it and not ask me to tell them that my daughter has it too. But most of the time, I am thrilled that I have a chance to teach one more person what Marfan Syndrome is and what to look for if they think someone in their family could have the condition. Because the more people we teach about Marfan Syndrome, the more lives can be saved by management of the condition. <br />
<br />
And that is my job as the wife and mother of Marfan patients. So teach I will.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com1tag:blogger.com,1999:blog-868227719715022268.post-58543385493845806022009-10-15T10:24:00.000-04:002009-10-15T10:24:26.718-04:00My New Nickname Well, we have a surgery date but neither of us is really happy with it. We have made all the decisions and just want to get on with the show. Get in there, fix the problem, and move on with our life. How many people do you know who wish for a surgery date sooner!!!???<br />
<br />
It has only been a week or so since the consultation with the surgeon. Since then, B has been to the dentist per the surgeon's request, flu shot appointments have been made for the entire family this weekend, and we have figured out vacation pay from both our jobs to cover our time out of the office. I have my family on hold so that they can take care of G while I take care of B in the hospital for a week. And I have updated the medical history and doctor contact information in B's Marfan Binder. <br />
<br />
<br />
All that in a week and we are still 6 1/2 weeks away from the surgery date. My list of to dos as we get closer to the date gets longer and longer. <br />
<br />
But that is what the Marfan Manager Mom does.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com2tag:blogger.com,1999:blog-868227719715022268.post-66108067917494265322009-10-07T09:49:00.000-04:002009-10-07T09:49:40.157-04:00Being PreparedPreparation is key to living our lives with Marfan Syndrome. Sure, there are so many things you cant plan for but having the right doctors, asking the right questions, gathering the information to manage the syndrome makes life a little easier for us. <br />
<br />
We have known for years that Hubby would have to have Aortic Root surgery - its one of the unfortunate realities of having Marfan Syndrome. We just weren't ready to hear that it was time. Yesterday, we met the surgeon. We heard about the procedure and about valves. We talked about all the "what ifs". And we made decisions. <br />
<br />
Now we wait for the call from the scheduler with the surgery date. <br />
<br />
A month ago, when we found out that the surgery needed to be done now (not in 2 years like we thought), I was not prepared. The last few weeks, I have been sad, angry, frustarated, stressed, and depressed. And Hubby has too. Its not a fun way to exist. Through all the research we did on our own, all the statistics we learned and all the forum messages we read from past patients, we walked into that appointment yesterday knowing what was happening.<br />
<br />
And that made it better. And it will make the next few weeks of surgery prep better. Because being prepared makes the process just a little easier on us. Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-66579876221936886722009-10-02T10:45:00.000-04:002009-10-02T10:45:38.115-04:00Our Doc's AwardDr Duke Cameron was honored with the 2009 Antoine Marfan Award. I am so thrilled that he will be the doctor performing Hubby's surgery - we really are lucky to live so close to great Marfan doctors. <br />
<br />
<object height="344" width="425"><param name="movie" value="http://www.youtube.com/v/4xVw1RU89T4&hl=en&fs=1&"></param><param name="allowFullScreen" value="true"></param><param name="allowscriptaccess" value="never"></param><embed src="http://www.youtube.com/v/4xVw1RU89T4&hl=en&fs=1&" type="application/x-shockwave-flash" allowscriptaccess="never" width="425" height="344"></embed></object>Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-33999979457450530512009-10-02T09:35:00.000-04:002009-10-02T09:35:24.266-04:00Hubby's Marfan Report CardSo last month's visit to Hopk.ins was great for G - an A+ for her.<br />
<br />
Hubby got an F. A big fat red, bold, italicized <span style="font-size: large;"><i><b><span style="color: red;">F</span></b></i></span>.<br />
<br />
<span style="font-size: small;">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 <a href="http://www.slrctsurgery.com/Thoracic%20aortic%20aneurysms.htm">descending aorta repaired</a> after a dissection that occurred in 2002. Now, 2 1/2 years later, we are preparing for <a href="http://www.marfan.org/marfan/2760/Aortic-Surgery">surgery on his ascending aorta and his aortic valve.</a> We knew this surgery was coming - just thought we had more time. </span><br />
<span style="font-size: small;"> </span><br />
<span style="font-size: small;"> </span>I have Googl.ed. I have researched <a href="http://en.wikipedia.org/wiki/Duke_Cameron">the surgeon </a>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. <br />
<br />
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. Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-49782520522223446632009-09-10T14:48:00.000-04:002009-09-10T14:48:33.687-04:00Nothing Sounds Better than NormalA little over a year ago, we heard "slightly enlarged" and words like "rapid growth". Scary words when they are describing your 4 year old.<br />
<br />
This year - normal. The doctor said normal! <br />
<br />
G's aorta is normal size. The high side of normal but when you are a Marfan patient, anything that is normal is good!!! The medication is doing what it is supposed to be doing. During her growth spurt this past year, G's aorta grew but in proportion to her body. Doctor was happy and I was ready to do cartwheels down the hallways but there were several patients in the waiting room that probably wouldn't have appreciated my show. <br />
<br />
Its not easy to manage a Marfan child but I am rested a little better at night knowing that the medicine we chose for her is working. For now. But that is all I can ask for.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-87297961767338679102009-09-02T12:33:00.002-04:002009-09-02T12:37:09.208-04:00356 Days....since my last post. <br /><br />Sorry. <br /><br />I got sidetracked with life.<br /><br />Nothing too dramatic to report since then - just typical life things. <br /><br />Until yesterday.....post in progress. More later.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-21552912769318508912008-10-06T15:17:00.002-04:002008-10-06T15:19:21.491-04:00I 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. <br /><br />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.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com2tag:blogger.com,1999:blog-868227719715022268.post-61168369928677308072008-07-24T18:17:00.003-04:002008-07-24T18:26:48.700-04:00Thank You Doc<a href="http://bp1.blogger.com/_F4sbaJqDIeA/SIkBmGv2skI/AAAAAAAAAzc/41sM1zlrPwA/s1600-h/340x.jpg"><img id="BLOGGER_PHOTO_ID_5226710596698157634" style="FLOAT: left; MARGIN: 0px 10px 10px 0px; CURSOR: hand" alt="" src="http://bp1.blogger.com/_F4sbaJqDIeA/SIkBmGv2skI/AAAAAAAAAzc/41sM1zlrPwA/s320/340x.jpg" border="0" /></a><br /><div><a href="http://en.wikipedia.org/wiki/Victor_A._McKusick">Victor McKusick passed away 2 days ago</a>. </div><br /><div></div><br /><div>What a devastating loss for the Marfan community. Because of <a href="http://www.nytimes.com/2008/07/24/health/24mckusick.html">this one man</a>, we know how to manage Marfan Syndrome, what to look for, and that those affected with the syndrome can still have full lives. </div><br /><div></div><br /><div>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. </div><br /><div></div><br /><div><a href="http://www.baltimoresun.com/news/nation/bal-te.ob.mckusick24jul24,0,4202584.story">Thank you Doc. May you forever rest in peace. </a></div>Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-47638715164856046842008-07-22T08:24:00.002-04:002008-07-22T08:30:35.305-04:00Joining the ClubAnother appointment which means another drive to Baltimore. <br /><br />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. <br /><br />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. <br /><br />And there is. <br /><br />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. <br /><br />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. <br /><br />So let's think happy positive glasses thoughts. G will be adorable in her pink glasses with Princess written down the sides!Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-25601447217712568442008-07-15T08:59:00.005-04:002008-07-15T10:20:39.622-04:00A New CalmIt has been awhile. Too long really. <br /><br />The past month has been an emotional roller coaster for us. Except that roller coasters end; this one will not. <br /><br />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.<br /><br />On June 27, we got just that. G has Marfan Syndrome. Her lens are dislocated 30% and her <a href="http://www.pediatricheartnetwork.com/glossarypopups/aorticzscorepopup.htm">aorta z-score </a>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. <br /><br />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. <br /><br />And that alone made me feel better.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-29935959810327617192008-06-28T10:20:00.000-04:002008-07-15T10:24:40.161-04:00Diagnosis Confirmed - Letter to my Family and FriendsIt has been a pretty hectic month here.<br /><br />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.<br /><br />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).<a href="http://bp1.blogger.com/_F4sbaJqDIeA/SGuH2u1i5XI/AAAAAAAAAyU/Ltsbi9fWZig/s1600-h/Grace_4YrOldPortraits+007.jpg"></a><br /><br />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.<br /><br />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.<br /><br />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! :)<br /><br />Again, thank you for your support---just knowing that you all love G is enough for us. We love you too!<br /><br /><a href="http://www.marfan.org/">National Marfan Foundation</a><br /><br /><a href="http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=4">Characteristics of Marfan Syndrome</a><br /><a href="http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=7">Treatment Options</a><br /><a href="http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=5&menu_item_id=42">Pediatric Marfan Information</a><br /><a href="http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=10&menu_item_id=42">Ocular Concerns</a> 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.<br /><a href="http://www.marfan.org//nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=158&menu_item_id=22">Cardiac Concerns</a> 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.<br /><br />G's doctor at Joh.n Hopkin.s is <a href="http://www.hopkinsmedicine.org/geneticmedicine/people/faculty/dietz.html">Dr. H.al D.ietz</a>. He is the Chair of the Professional Advisory Board for the <a href="http://www.marfan.org/">National Marfan Foundation</a> 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.<br /><br />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.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-12155994450780607422008-05-23T08:34:00.002-04:002008-05-23T08:40:32.085-04:00CoastingThe past 2 weeks have been a whirlwind. <br /><br />$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. <br /><br />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!? <br /><br />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.<br /><br />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.<br /><br />For now, we are just coasting.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com1tag:blogger.com,1999:blog-868227719715022268.post-34675756765372251042008-05-19T16:04:00.002-04:002008-05-19T16:08:48.140-04:00ConsultAfter 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. <br /><br />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. <br /><br />We did not schedule surgery. <br /><br />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. <br /><br />So again, a day of a lot of questions and not many answers.Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0tag:blogger.com,1999:blog-868227719715022268.post-352178283448664482008-05-15T08:19:00.003-04:002008-05-15T08:25:36.143-04:00FloodsSince getting the disgnosis from the eye doctor on Monday, every emotion I know of has crossed me. <br /><br />When I heard the words, I cried. When I drove back to work, I was angry. When I put Grace to bed that night, I was sad. And now I am sick. <br /><br />Last night my head hurt so after 2 Alev.es, I laid on the couch with G. And went to bed right after she did....at 9PM. Have you ever heard of such a thing?! It was great. But I spent all night tossing and turning and throwing up. Weird, huh? Today I feel weak and shaky and sick.<br /><br />I am so exhausted emotionally. Could that really make sick?!Anonymoushttp://www.blogger.com/profile/16604277275799066219noreply@blogger.com0