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!!

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. 

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.

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.

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!

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.

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.

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.

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.

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.