Annual Visit

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.

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 rock-star cardiologists at Hopkins 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 remarkable things for Marfan patients with the kind of aorta damage that Hubby has.)  

I woke up this morning feeling so much better.  We got through it - surgery #2 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!).  

The next hurdle starts tomorrow night. Last week B went in for a sleep study. The results were not surprising,,,,to me at least - sleep apnea - positive.  Looks like a CPAP machine 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!!

Busy Day

This morning, I checked the NMF site - I dont check it regularly but probably once a week or so. 

Well, what a busy day it is there today!

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 years ago - 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 Ritter Rules.

I also noticed this morning that NMF has posted the 2010 convention 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. 

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. 

Cross your fingers for us - we find out in May if we got the scholarship. 

To 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 Atenolol 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.

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?


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.


With all these assessments happening at school 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)?


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!?

School.

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.

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.

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.

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.

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. 

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.

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!?

A Fresh Start

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. 

A Teacher

We 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.

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. 

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. 

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. 

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. 

And that is my job as the wife and mother of Marfan patients.  So teach I will.

My 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!!!???

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. 


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. 

But that is what the Marfan Manager Mom does.

Our Doc's Award

Dr 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.

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. 

Nothing Sounds Better than Normal

A little over a year ago, we heard "slightly enlarged" and words like "rapid growth".  Scary words when they are describing your 4 year old.

This year - normal.  The doctor said normal! 

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. 

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.

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.

Thank You Doc

Victor McKusick passed away 2 days ago.

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.

Thank you Doc. May you forever rest in peace.