Saturday, July 14, 2012

Update on Daniel since the last post. He finally shook the bug, but it did take going to the antibiotics to do it. We really didn't want to go there since he at risk for MRSA, and every antibiotic used now could make it that much harder to fight a bug down the road, but for this bug, it was necessary.

This post comes with a mix of joy & sadness. On June 20th a beautiful little boy named Danny in the UK, who suffers from one of the most severe forms of Marfan syndrome, Neonatal Marfan Syndrome” (NMS) had heart valve surgery. For those not familiar with it, it is a severe and rapidly progressive form of Marfan Syndrome. Cardiovascular issues can be difficult to treat, causing early mortality in some cases. Danny was in need of heart surgery but not expected to survive according to almost every expert, yet not only did he breeze through surgery but was ready to step down out of the PICU less than 3 days after surgery & is now home & doing great!! So much for the doubters!

The sad side of this came on June 22 when an online Marfan friend named Justine, also in the UK, passed away at age 42 in her sleep. There was no warning, she was just gone. I had only recently "met" her, but she seemed like a bright & witty woman who was trying to live life to the fullest, despite her condition. Our deepest sympathies go to her family... It is also a sobering reminder of Marfan's.

Sunday Daniel turned 49. Not a big milestone for most (other than he is soon to enter his 50's) but 17 years ago when he was diagnosed with Marfan Syndrome we were being told that although life expectancy were beginning to climb, that many were still not making it past their 40's & 50's. Thankfully proper treatment, great support & the blessings of God have come together to get him to today. We know so many examples of friends making 60, 70 & a few beyond, but we also know NO ONE is guaranteed tomorrow, Marf or not. Another non-Marf's friend's daughter & grandchild were in a car accident today, they are OK, yet another CDH family just lost their little baby this morning... Why someone survives to see another day when it could have gone the other way, sometimes it's luck & circumstances, but sometimes we just don't know. That's why it's important to make the best of the time we have as much as possible, and as best we can with what Marfan's gives, live it to the fullest!

Saturday, June 9, 2012

Never a Dull Moment...

I pretty much figured no updates here for a few weeks, maybe a month or more, but, no, never a dull moment. Tuesday morning Daniel woke up saying he felt like he was fighting off a bug. It's been quite a while since any of us had a cold or flu & to get one so late in the season is a bit unusual. Also he is usually one of the last to catch a bug as I or one of my kids usually catch it first, but this time he was the first victim.

By Tuesday night the cough had set in & made his already poor sleep due to "Restless Movement Syndrome" tons worse, keeping him from a sound sleep all night. To add insult to injury his knee locked up for the first time. Although I have been fighting lockups for over a year now, Daniel has managed to escape them... until now. A joint locking up may seem minor to other Marf's (many of them fight them for years even before diagnosis) but this could be major issue for Daniel. If it was an isolated lockup then no problem. If his knee joint is weakening to the point where it will lockup regularly, his daily walks may have to be reduced or stopped. This could have detrimental effects as he also has coronary artery disease & hypertension on top of the Marfan's, and the cardiologists believe part of why he is 11 years post surgery with no new CAD blockages is due in part by him continuing to take almost walks. If he has to give them up...<shutter>...

Anyway, by Thursday the bug had really gone a hold of him & the cough was heading straight for his chest. Because he has already had issues with prior acute bronchitis we headed into the doc, and sure enough, no pneumonia (it didn't really sound that bad anyway) but bronchitis appeared to be settling in. Inhaler & cough syrup with codeine (because of another issue we are trying really hard to avoid antibiotics). Praying it does the trick!

The other fun for the week is that Daniel's eyes are VERY overdue for an exam are finally getting looked at this month. We have been noticing for months he has been having a harder time seeing, so we will be going to the ophthalmologist to get a look. I have a hunch he will be joining the 4 eyes crowd.

I was a bad girl tonight. The garden bug bit me tonight &
that yard looked like a wreck, so out I went to play in the garden, much to the dismay of my blown CMC (carpometacarpal) joint... OUCH!!! It does looks better though! :-/

Tuesday, May 22, 2012

Another Bullet Dodged!

May 22, 2012

Well we dodged another bullet for a while. Sometimes it feels like we are playing a game of Russian Roulette, never knowing when we will find the bullet, but for now, we have dodged the bullet once again. 

Both ECHO's were stable, but due to issues unrelated to Marfan's we are making minor medication changes on both of them. 

For my daughter, it will likely have no effect (unless we run into an allergic reaction), but for my husband it COULD have an adverse effect so we will do some extra monitoring to make sure we don't have any issues. He also has heart disease & high blood pressure on top of the Marfan's (a wicked combination) so we have limited options what we can do for medication changes, so this will be a bit of a tight rope act. 

So for the most part, another routine check up, and for the hubby, back in 6 months, for my daughter, back in a year... YEA!!!!

Monday, May 21, 2012

May 21, 2012

This week will be ECHO's & check-ins with the cardiologist for my husband & youngest daughter. It will be either a routine week or it will be one of those weeks that turns our lives upside down, the question is which?

For those new to Marfan syndrome, a little background. Marfan syndrome is a genetic disorder of connective tissue, the tissue that strengthens the body's structures. Connective tissue holds all parts of the body together and helps control how the body moves & grows. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening.

Marfan syndrome traits vary from person to person, even in the same family. Some people who have the condition have many traits, while others have few. The most serious complications of Marfan syndrome involve the heart and blood vessels. Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation or aortic aneurysm. If the aorta stretches and grows weak, it may tear or burst and leak blood. This condition is called aortic dissection. It's very serious and can lead to severe heart problems or even death.

Luckily we caught ours before it got that bad, and with good monitoring & in my husband's case, aortic valve replacement surgery in 2000, we have avoided the worst case scenario. It's always in the back of our mind, but we are always aware the danger can arise at any time.

As part of taking care to avoid the worst, my husband has exams done ever 6 months due to him having a family history of heart problems in addition to the Marfan's, and the rest of us are on every year. Now comes 2 of those visits over the next 2 days. Wish us luck that the news is "No change, see ya next time!"

Monday, May 14, 2012

Our Marfan Story Begins...Again!

In 1994 my 31 year old husband Daniel was diagnosed with Marfan Syndrome, one year after we were married. He had his aortic valve replaced in 2000 with a St. Jude valve. Because of other medical issues unrelated to Marfan's he could not work any more and has been on disability ever since. His repair has remained stable and he is doing well at age 48.

After many twists and turns of odd symptoms and a misdiagnosis of a related condition, I and several children from an earlier marriage (unrelated to Daniel) were also diagnosed with Marfan's in the fall of 2011.

The odds of having Marfan's is 1 in 5,000. The odds of TWO undiagnosed Marf's meeting and marrying is 1 in who knows how many... Yet, we found each other!!

As we adjust to the diagnosis, our lives are now changed and will be taking a new direction. Follow us along as we see where this uncharted path takes us...