​The need for hope is invaluable in society. I heard a news story yesterday that in the United States the life expectancy in continuing to drop. That type of news is concerning enough, but the main contributing factors to why it’s decreasing were heartbreaking. The newsperson said that the average lifespan in America is decreasing because of the increase in despair deaths – deaths by drugs, alcohol, and suicide. His final word of on this topic struck a chord with me, he said that it is because people are without hope.

Having hope in something is very valuable to a person. Something to look forward too, something to live for. A reason to get out of bed each day. I’ve got to honest, I’ve had my hopeless days, but often I had others who still had hope and did their best to help me find mine again. My wife can attest that I’ve battled hopelessness more than once in my life.

The main purpose of my book, Custom Scars, isn’t to inform people about Marfan syndrome. It’s not about sharing some of my life’s story and the medical struggles. The main purpose of Custom Scars is for the reader to find hope. We do live in a world that seems so void of hope, but I want to clearly state that we can have hope. Hope in life is available and free. My book concludes with addressing the hope that we can have in life through faith. It’s where my hope is found and my faith has held me and my family together through many perceivably hopeless times.

The first inkling of writing Custom Scars was in the winter of 2010. One of the three leaflets of my aortic valve tore while shoveling snow. After an artificial valve was put in, I was able to come home less than two weeks after the incident. During my home recovery, I vividly remember sitting on the couch by the window in the living room and the words Custom Scars being impressed on my heart. Those two words were to become the title of a book that hadn’t even been started.

I looked at my body, I looked at the scars. I knew the emotional, psychological, and even spiritual scars that I had, let alone the scars of my wife and children. Then it was as if God spoke to my heart and told me that everyone has Custom Scars but that He still loves each of us with our unique scars. That no one is a mistake and that all are loved.

That was the start. That cold winter day during recovery is when I knew that I had some work ahead of me. Not long after I was back to more functions at the church, I informed the church board of what I would be doing. They were all very supportive and gave me great reassurance to complete this calling.

I had never written a book before, but God placed the chapter titles on my heart and the words came fairly easy, yet the chapter flow seemed weak. I was then encouraged by a writing professional named Jim who gave me invaluable advice. I attended a writers conference and gained so much from that as well.

After a year or two of struggle, I finally broke through with the theme of hope. That Custom Scars isn’t about me, but it’s all about hope. I knew what the last chapter was going to be regarding hope through my faith in Christ, but I now knew that hope needed to be threaded throughout the entire book. Although you may be reading my story, every reader will be challenged regarding their story and battles. Their battles of hopelessness.

I thought that my book was ready for publication three years ago, yet I couldn’t secure a publisher. I felt defeated and pretty much gave up. Then in May 2016 I had my aortic dissection and was in the hospital and rehab for nearly ten weeks. Talk about hopeless, I just wanted to die, but the hope and prayer of others sustained me while I was in a deep valley.

In the Spring of 2017 I figured I should read my manuscript again, maybe I should keep plugging away. After I read it, I knew why I didn’t publish before, I had one more chapter to write. The chapter would be about my dissection, but since I didn’t remember much at all about those two plus months, that chapter is my wife’s, Amanda, Facebook updates. It shows the struggle of our loved one’s when someone so dear to them is hurting or possibly dying.

I knew that going down the roads of traditional publishing was going to be hard since I’m kind of a no name, so I jumped head first into self-publishing. At two different points I had my manuscript professionally proofread, and then there were four other individuals who proofread it before I self-published. I created the front and back covers, as well as the entire format for the interior. Those were definitely not my strengths but my proofreaders gave terrific advice for many format issue’s. (I found so much online to help me too)

The reason for the 1948 Ford Sedan on the front cover is because that is my father’s custom car. At the end of many chapters I run a parallel story of how my father wanted this 1948 Ford to be custom, just the way he desired it to be: convertible, different engine, suspension, interior, etc.  All of those customizations didn’t make the car devalue, it was special to my dad because he made it that way.

I see that as the same as God that He loves us now matter how many Custom Scars we have in our life. We have value and for me that provides great hope.

​I honestly didn’t mean to self-publish on November 1, but I hit the wrong button. All I was waiting on was one more clearance to use a picture for the back cover. Thankfully it came in all good and no harm done. As of right now twenty copies have been sold and my prayer for each of those books is that the reader will find hope. Not hope through me, but a hope that is far greater then any hope that I could ever pass onto anyone.     
I’m also working to be able to sell them personally, but I am still working on the sales tax end of that, so Amazon.com is the best place to get your copy of Custom Scars. Thank you for buying and reading Custom Scars. I trust that you will use your scars to help bring hope to others.

​It was around this time of the day, early afternoon, 25 years ago that one of the deepest scars of my life happened. On July 16, 1993 my mother died of cancer, she was only forty-seven. As a fifteen year old boy I was devastated at the loss of my mother. I felt hopeless that my biggest supporter, comforter . . . my mom . . . was gone.
     
Now as a 40 year old man, I don’t have many memories of my mother. All of the drugs and trauma that my body has gone through over these years due to medical procedures has taken away most of my childhood memories. I see pictures of her and I together, but the actual memories are very scant.
     
What would life have been like if she hadn’t died? She would have been able to see me graduate high school, graduate college, get married, and meet all her grandchildren. She would have rejoiced in my successes and comforted me in my failures.

Truth be told, we can’t live in a world of “what if’s”. We must move forward regardless of the hurts and losses in our lives.

I know that God has given me a terrific step-mom who has taken care of my father for the last 23 years. A wonderful woman who loves me and my wife and is grandma to our children. Although I will always carry the scars of losing a parent, they have healed, and I can move forward in life.

That doesn’t mean I don’t miss my mom. That doesn’t mean I didn’t love my mom. It just means that those once open wounds have healed and the scars remain. With these scars I can still move forward because I’ve allowed the wounds to heal.

My mother has been in eternity with Jesus now for these 25 years. To me it’s been 9,125 days (give or take a few), but for her with Jesus it’s only been the beginning. I’ll get to see my mother some day. One's time on earth is just a speck compared to eternity. It’s been 25 years since mom died and if I have to wait 25 more until that day of our reunion that’s okay because my scars have healed and I have pressed forward with the strength of the Lord.

​I do miss you and will forever love you mom.  

​Story #1:
     “Your dad has two aortic aneurysms and possibly an old dissection” were words that I heard this past Sunday along with some other aortic related concerns. Where did this come from? My dad went to the ER to because of kidney stones that are apparently stuck in his bladder now, but when did he develop a 5.2cm aortic aneurysm?
     This is all very confusing because my father was tested for Marfan syndrome nearly 9 years ago and was told that he didn’t have it. But does he? The easy answer is no, he doesn’t. These aneurysms aren’t because of Marfan syndrome like mine have been, but to truly answer why they are there, I guess they just happened. Thankfully the heart doctors (some of which have worked on me in past years) gave him the all clear to come home from Pittsburgh today and the stones will be dealt with by his local urologist. I'm very thankful for that and they are just going to monitor his aneurysms regularly. End of story #1.
       
Story #2
     A couple of weeks ago a passage of Scripture was being discussed. I can’t remember where it was used, maybe a pastor’s conference Amanda and I were attending, but it was Romans 5:3-5 and it reads like this: “Not only so, but we also rejoice in our sufferings, because we know that suffering produces perseverance; perseverance, character; and character, hope. And hope does not disappoint us, because God has poured out his love into our hearts by the Holy Spirit, whom he has given us.” I have read and studied and preached on this portion of Scripture before, but when I heard it this time it struck me in a way that I hadn’t been affected like previously. End of story #2.
 
Finale
     While visiting my father in the hospital yesterday I read this portion of Scripture to him. He was suffering, but I told him what the finished product will be through this suffering according to Scripture. I know that his finished product isn’t there yet, but can you see what his suffering will produce? (I know that this portion of Scripture is referring more to suffering for one’s faith in Jesus, but honestly it can reflect all suffering.)
     I told dad that although he is suffering now, guess what it will produce? Perseverance! And then after that, here comes character. Character is something that is truly missing within much of society, not only here in the USA but around the world. After character is developed the final product is just around the corner. . . HOPE. And that hope doesn’t disappoint!
     I told him to look at it this way, those stones and his aorta concerns will ultimately produce hope. Who wouldn't want more of that?
           
     This is a fantastic way to look at suffering. I can honestly say that my Marfan suffering has progressed in this exact sequence. Suffering built perseverance which has developed character that has produced my hope. 

​The Paralympics are being held in PyeongChang as I write this. Due to my cable package, I only had access to two hours of coverage from the first day’s events. The internet will have to suffice my desire to be updated on other event results.
 
If you enjoy the Olympics, the Paralympics is 1,000 times better. Do the paralympians ski faster, do bigger jumps, or compete in all the same events? As you would assume that answer is “No”. During the Olympics we had athletes such as Jessie Diggins, Lindsey Vonn, Shaun White, plus twenty more groups or individuals who medaled for the USA. I watched many of the USA team and they all made me proud.
 
But before I proceed with this year’s Paralympics, I need to go back to the summer Paralympics held in Rio de Janeiro September 7-18, 2016. During most of these summer games I was in the hospital due to CHF. (Congestive Heart Failure) My hospital room had the station (must have been NBC Sports) that was broadcasting the summer Paralympics. Lying in that hospital bed was really the first time I had a chance to watch any paralympic games.
 
I had spent 69 days in the hospital from May-August 2016 (plenty of regular Olympics on) due to my aortic dissection and then the next month I was admitted for another couple weeks with CHF. When I saw the paralympic athletes competing I was inspired like I had never been inspired before. These athletes were my hero’s. Hearing their stories and watching them compete and win brought continual tears of pride (good pride in them) and a hope that I was going to make out of my situation too. That was my first true exposure to the Paralympics which made me so happy to see that the winter Paralympics were about to start.
 
This weekend I watched the USA win Gold (Kendall Gretsch) and Silver (Oksana Masters) in the women’s sitting 6km biathlon, the first medals ever for the USA in this event. Congrats to them, but who I loved seeing interviewed was Laurie Stephens. She won the Bronze medal in the women’s sitting downhill skiing event. Laurie has spina bifida and cannot walk. When I saw her being interviewed I looked at Amanda (my wife) and told her that Laurie resonates beauty. I said that she surpasses all the Olympic athletes to me for beauty. (Beauty as in the entirety of a person. I could really care less about what society considers beauty) She is a hero. I couldn’t stop smiling when she was being interviewed. She moved my heart.
 
I then watched the 7.5km men’s sitting biathlon and American Daniel Cnossen won a Gold medal. He’s a Navy SEAL who lost both his legs to an IED in Afghanistan. He received a Purple Heart and a Bronze Star with Valor for his service. Here’s a man who served his country on the front lines, suffered a catastrophic injury, rehabilitated back to a high level and just won a Gold medal for the country to loves. Again, he is my hero.
 
Other Paralympians have won medals too and I am in awe of them as much as those who I have mentioned.
 
Sadly with Marfan’s even Paralympics are mostly out of the picture. For those affected with Marfan’s and those who have loved one’s affected by it you know that life isn’t always easy to manage. But I do want to say that we can be hero’s to others just like the Paralympians are to me. We all have our stories that can be an encouragement to many. Just like many in the Marfan community, I’ve had multiple procedures and life saving surgeries. And just like so many we just keep plugging forward. Despite the daily fatigue and pain we keep pressing on.
 
I’m connected to a handful of Marfan syndrome social media groups and I’ll tell you that many of the life stories and events that people write about are difficult. Practically every day I read of kids who deal with so much more than I have or my two boys with Marfan’s have had to experience. Those kids are my hero’s too. Their parents might as well get thrown into that hero category too. Just as I see these paralympians as incredible hero’s I see our Marfan community as being filled with hero’s.
 
Hero’s who have battled scoliosis, aortic dissections, lens dislocations, broken bones, bones going out-of-socket, daily fatigue, back pain, DE, nearsightedness, AAA’s, valve replacements, and I’m sure the list could be expanded. For those who battle Marfan syndrome, you can be a hero to others by sharing your story with them. In the up’s and down’s that make up our lives, we have the power through to lift others up.

​To my extended Marfan family: You Are My Hero’s.   

     It has been seven months since my last blog. Time has just gotten away from me. Recovery from last year’s Aortic Dissection and my ministry responsibilities at the church have taken priority. I am sorry for that, but today marks a very significant day for me in my Marfan Journey. Today marks the one year anniversary of coming home after my dissection.
     I was in the hospital and then rehab from May 27 – August 4 last year. It started with the aortic dissection, which led to my lungs filling with fluid, which for some reason triggered a H Pylori bacterial ulcer to burst in my stomach causing massive blood loss over a span 6 weeks.
     My meals came via a feeding tube for over a month. For weeks I relied on a breathing machine for survival. Because the ulcer was on an artery I had to receive over two dozen units of blood and it wasn’t until the fourth attempt to clamp/cauterize it that it stopped bleeding and healed. I love to fly, but I’d prefer to not have two helicopter life flights in a span of 7 weeks again.
     Last summer was beyond difficult. My children only saw me 2 times during that 70 day span primarily because they were too young to go into ICU. Our whole family hurt and even a year later we are still healing.
     Being on the cusp of death for such an extended period of time, my muscles deteriorated. I lost nearly 40 lbs. I remember even after 6 weeks that I was hardly strong enough to hold my cell phone up and I was shaking so badly that it was a struggle to even push the buttons.
     Some of my therapy consisted of folding washcloths . . . that would exhaust me in a matter of minutes. I also had to stack my “food” cans. It was what they gave me via my feeding tube. Those cans, at the time, seemed like 100 lbs and I moaned and groaned having to stack an 8 oz can.
     Then that day in rehab where the therapist said that I was going to stand on my own. I told him that I couldn’t. He didn’t accept that answer. He slid my legs over the left side of the bed and proceeded to lift my torso so I was sitting at the edge of the bed. I again told him that I couldn’t do it. I wasn’t ready, my legs were too weak!
     He said, “Trust Me”. Put your hands on my shoulders and lean forward and I’ll help boost you up. I felt like Indiana Jones in The Last Crusade when Indy had to take that step of faith onto the rock bridge that he couldn’t see. After a handful of attempts between using my arms and the PT lifting me I stood for a handful of seconds. After a couple more standing successes I was exhausted. Did I only hit 20 seconds of standing or so? Yes, but that was more standing then I had done in 7 weeks.
     So many more details and so much pain to follow. Amanda never left me and I never doubted her love. God never left me, but I honestly struggled with some “why’s”. I’m so thankful that the faith and prayers of others kept me going until my strength was restored.
     Even though I am in CHF (congestive heart failure) and had a second defibrillator implanted three weeks ago, I am so much better than a year ago today when I was discharged from rehab. I can swing my legs over the side of the bed and stand without an issue. I don’t need someone to literally walk beside me. I am not longer bound to a wheelchair. I no longer have to rely on “Texas Ranger” (That is what I named the Walker I had to use. If you don’t get it, I’m not even going to try to explain)
I’m not where I was at physically before May 27, 2016. I doubt I will ever get to that point again, but I am so thankful for the answers to prayer on my behalf. I am so thankful for a wonderful church family that didn’t waiver in keeping this Marfan syndrome pastor around.
     When I walk into my home, I reflect on the people who came for weeks to work on it before we moved in. Dozens and dozens of people gave hundreds of hours in repairing and renovating our new home. Words cannot express the gratitude for that.
           
     One year at home since the dissection. Having this summer with my family has been wonderful. I missed so much last year, but am so glad that I’m still around. I have a CT scan and see my surgeon next week to make sure the endograph that was used to repair my dissection is holding strong.
     It has been tough these last 39 years of life. Five surgeries on my aorta and one brain surgery + two different defibrillators implanted since May 1st. (with the one shocking me 3 times when it didn’t need too, thus the need to put a different one in three weeks ago.)
     Marfan life is not easy. Anyone that has it can attest to that. Never ending aches and pains. It seems like never-ending doctor appointments. The trauma of multiple surgeries has lifelong affects, but you just have to keep plugging along. I’ve been so blessed to be married the last 16 years to the greatest helpmate who has never flinched in her love for me regardless of Marfan syndrome. I am even more thankful for the strength that I can receive through my faith. Philippians 4:13 states, “I can do all things through Christ which strengthens me.” That’s a promise and a truth that this Marfan patient will hold to till the day I die. (which hopefully isn’t for a very long time.)   

It has been nearly seven months since I last wrote a blog on CustomScars.org. It isn’t because I lost track of time, but because of an aortic dissection that happened on May 27th.  While getting ready for my children’s end of the school year program I had a type B dissection (tear) right above my St. Jude’s artificial aortic valve. Thankfully it only tore one layer of the aorta preventing a catastrophic result if all layers would have torn.
 
It abruptly started with back pain. Pain that was more intense than any pain I had ever experienced before. Realizing immediately what had happened, I quickly told Amanda, my wife, that I had a dissection and needed to get to the ER immediately. The hospital is less than five miles away and I insisted that Amanda take me. So with all five kids in the van we made it to the ER. Once at the hospital, I looked back at my children and told them that I loved them believing that was the last time they would see me alive. I then managed to stagger into the ER and told them I had a dissection.
 
I was life flighted to Allegheny General Hospital in Pittsburgh where I’ve had my four other Marfan related aortic surgeries. Honestly, from this point I only have vague memories of the next 6 weeks. I ended up with pneumonia and was on a breathing tube for nearly two weeks. I also had a bleeding ulcer in my stomach that took four attempts to fix. Over this span I had to receive nearly 2 dozen units of blood. (with a second life flight thrown in as well)
 
They performed an endograph where they entered my groin and then “opened” up the graph on the torn aorta. It was the best that could be done because they didn’t believe I would survive an open chested procedure due to all the complications I was having.
 
A number of times my survival was questionable but hundreds of prayers were heard and God saw fit for me to pull through. After being in AGH for a month and a half I went to rehab for nearly four weeks to learn to walk again. I had lost so much strength that I needed occupational and physical therapy to be able to become functional again. That’s another entirely difficult time.
 
I was so glad to be able to come home at the beginning of August after nearly ten weeks in the hospital and rehab. I had home therapy and was improving weekly, but then in the middle of September I thought I had pneumonia again. After two weeks of continually feeling worse I ended up back in the hospital for ten days. I wish it had been pneumonia but instead I was diagnosed with Congestive Heart Failure (CHF). My heart was only functioning at a max of 27%. One’s heart function is supposed to be 55% or greater, so my number’s were definitely low.
 
So that is what I have been dealing with the last three months. In November I had some testing done to see if my heart function was improving and the results weren’t encouraging. In January we will have more testing done to see again if my heart function has improved to the minimum threshold of 35%. If not, the plan is to have a pacemaker/defibrillator surgically placed inside. Hopefully my heart function doesn’t decrease because that would lead us down the roads of significantly more invasive procedures.
 
I’m on my third week of cardiac rehab and that has definitely helped increase the strength in my arms and legs. My blood pressure is all over the place, but my heart rate holds pretty steady around 95-120 beats/minute when I’m active. Rehab plus medication is the formula we are hoping will help strengthen my heart muscles.
 
But this week I am having a really hard time processing and dealing with all the busyness of Christmas. I’ve had to cancel one family gathering and I am not sure if the other two are going to happen either with us. Being a pastor, we have a Christmas Eve service and Christmas Day service and I am having a hard time grasping the two so closely together. Many folks in the church are participating in Christmas Eve so that is a huge relief and I know all I have to do is ask and dozens of people here at the church will do whatever is needed to help me. But personally, it’s a struggle right now.
 
Again I’m sorry that I haven’t updated my blog in so long. Its been a very hard summer and fall. Just yesterday I was scrapping ice off my car window and my LifeVest (my defibrillator I am currently wearing) went off saying that treatment (a shock) was imminent. I quickly hit the buttons to make it stop, but I can’t even scrape ice off a car window anymore.
 
This is our new normal and we have adjusted fairly well over these months. I’m very thankful for the improvements and so grateful to be able to spend another Christmas celebrating the birth of Jesus with my wife and children. I trust that I will have many more Christmas’s in the years to come regardless of where my Marfan and CHF journey’s take me.

Last week I thoroughly enjoyed a week’s vacation. I was burnt out and in need of some time off. After church on Easter, we traveled to my mother-in-laws for two days and then went to the Pittsburgh Zoo on Tuesday.
    
Our entire family loves the zoo. Each of the kids have different areas and animals that they like to see every time we’re there. Since it was a little cooler that day their were no lines to wait to see any of the animals. We were even able to peer through a glass enclosure and see the baby leopard that had recently been born. As always, everyone enjoyed themselves, but when we were at the kids play area I saw the astonishing love of a brother.

If you’re getting your hopes up that it was one of my own sons, let me burst your bubble now, it wasn’t. I had seen a young girl in a wheelchair periodically throughout the day at the zoo. She was probably somewhere between 8-10 years old. I noticed that her older brother, at least 16 because he drove them there, would push her where she was unable to maneuver her chair herself.

As Amanda and I sat down to watch our kids climb the cargo ropes and come down the slides, this same teenage boy and his wheelchair bound sister caught my attention. He lifted his sister out of her chair, carried her up 15-20 stairs to the top of the slide, hurried back down the stairs, and caught her at the bottom of the slide. He would lift her back up in his arms, march up the stairs again, only to run back down to do the same thing.

For nearly 20 minutes Amanda and I watched the love that this brother had for his sister being lived out in front of us. It was enjoyable watching our children have fun, but each time the brother lifted his sister in his arms my heart was filled with joy and I couldn’t help but smile.
 
What incredible love.
 
What selflessness.
 
What excitement on the face of his sister.
 
This young man worked up a sweat loving his sister unconditionally. When they needed to continue on through the rest of the zoo, this brother took his sister back over to her chair. When I saw that his workout had concluded, I walked over to him and thanked him. I thanked him for the love that was shown to his little sister. I thanked him for the example of selflessness that Amanda and I were able to witness.

This teenage boy didn’t really know how to react to my complements. For him it was nothing! He just wanted his sister be able to do the same things the other children could do. For him it was easy because it was the love of a brother.

I then found out that he not only had his wheelchair bound sister but also another younger sibling and the neighbor kid! He took three young kids to the zoo. He then proceeded to tell me that when they arrived at the zoo that day someone at the zoo’s entry paid for their zoo passes! They were blessed at the gate and they blessed me at the kids’ zone.

After our brief conversation the four of them headed toward the reptile area and I couldn’t shake the thought that so many people complain about the stupidest things yet they can do so much. When you see the love of a brother displayed like this it makes you take a step back and think about your life.
 
Are we going to experience difficulties?        Yes
 
Are struggles going to happen in our life?     Yes
 
How are we going to react to them? What is going to be our perspective.
 
In the end, I didn’t see a little girl in a wheelchair . . . I saw a little girl smiling and laughing and enjoying the zoo as much as all the other children because she was held in the strong arms of a brother that loved her. 

     Recently my family took a trip to the Canadian side of Niagara Falls. Both my wife and I have passports, so with them and all five kids’ birth certificates, we traveled to our closest “foreign” country. Our entire family enjoys the trip to the mighty falls and many of these excursions are very sporadic since it’s only a few hours away.
     We stayed on the 26th floor and could look down and see both the Canadian and American Falls. Even from this height, you could hear the power of the falls. An astounding 600,000 gallons of water falls 167 feet to the rocks below each SECOND.
     When walking around down by the falls you see people from countless walks of life and ethnicities. A variety of languages are spoken by the travelers, and yet when someone needs a group picture taken the language barrier is broken because we all want a picture with the power of the falls behind us.
     Each of the people at the falls has a different life story and a variety of scars. I’m sure cultural elements that would be hard for me to comprehend are a part of many of their lives. All those people, all those lives, all those scars.
     When I was looking down at the falls from the hotel I couldn’t escape the thought of the power of the falls. Seeing people the size of ants walking around below I couldn’t help but think about how we can label ourselves as powerful or powerless.
     Not a single person who was viewing the power of the falls could do one thing to stop it. The power of 2,400 tons/second of water could never be stopped by anyone there. That power is just too great to counter.
     I think that sometimes we can see what others can do that we can’t and feel powerless. Just as I am powerless compared to Niagara Falls, if we compare ourselves to others to find our worth, we can often feel powerless. I believe that we can find true power in ourselves when we aren’t looking at ourselves as the source of that power. There’s a sentence in the Bible that I just love. It says in Philippians 4:13, “I can do all things through Christ which strengtheneth me.”
     So, if I can do all things, that must mean that I can stop the strength and power of Niagara Falls? No, it’s not talking about that strength, it’s dealing with the fact that God wants to be the one who provides the hope and strength in our weaknesses.
     I can’t do a lot of things physically that I would really like to, but that doesn’t make me weaker as a person. My worth isn’t found on the outside things that I can do or not do, but on the strength of the person that I am on the inside.

Yesterday finished up Marfan Awareness month. Due to being out-of-town for a meeting, I had to compile the remainder of February’s Marfacts this morning. Again, thank you Maya Brown-Zimmerman for all the wonderful information that you have provided this month.
 
Instead of just posting the second half of the Marfact’s I decided to give them all to you so you can copy and print out if you desire. My blog two weeks ago just had the first fifteen, but today’s includes those plus the remaining fourteen.
 
I loved what Maya Brown-Zimmerman posted later in the day yesterday. She blessed us with a bonus Marfact that Amanda and I both chuckled at: Bonus MarFact: Last year, at the beginning of Marfan Awareness Month, a friend asked why the tallest people get the shortest month for awareness. I believe the answer lies in our hypermobility. We're flexible enough that we can fit 31 days' worth of awareness into 29!
 
When you have a genetic condition like Marfan Syndrome it is best to keep a sense of humor. It can be hard many days as the stiffness and pain gets very tiresome, but Maya put a smile on my face with this one.
 
Please enjoy all the Marfacts and again, and feel free to share these in order for people to have a greater understanding of the lives that we and our family’s live.
 
 
Marfact #1: Marfan syndrome is a potentially life-threatening disorder of the connective tissue. Connective tissue is like the glue that holds your body together, which means that Marfan can affect many different parts of the body.
 
MarFact #2: Marfan syndrome is found equally among all ethnicities and genders. It affects about 1 in every 5,000 people, but it's estimated that only HALF know they have it!
 
MarFact #3: With proper diagnosis and treatment, the average life expectancy for people with Marfan syndrome is the early 70s (aka the same as the general population). Without proper diagnosis and treatment, the life expectancy drops considerably. This is why awareness is so important!
 
MarFact #4: Marfan is a syndrome (a collection of symptoms that tie together), which means that people can be affected in a variety of ways. There is only one "type" of Marfan, but the disorder ranges from severe (all possible manifestations showing in a newborn) to very mild (people who are not diagnosed until late in adulthood and have few symptoms).
 
Marfact #5: Let’s talk how Marfan affects the body. First up, the skeletal system. People with Marfan may be tall (in relation to their unaffected family members) and thin, with long arms, legs, fingers, toes, and faces. They may have flat feet, chests that curve inward (pectus excavatum) or outward (pectus carinatum), scoliosis, or kyphosis. It’s also important to point out that you don’t *have* to be tall or thin to have Marfan.
 
MarFact #6: Pulmonary system time! Many people don't realize that in addition to the cardiac issues (we'll get there tomorrow), lung problems can ALSO be life-threatening for Marfan patients. Possible pulmonary issues include restrictive lung disease, asthma, emphysema (without ever smoking), COPD, pneumothorax, and sleep apnea. You can even see these in very young babies. Obstructive sleep apnea is particularly common in Marfan patients.
 
Marfact #7: Marfan syndrome causes aortic enlargement, and this is the most dangerous aspect of Marfan because it does not have symptoms. The aorta is the main blood vessel coming from your heart. When it enlarges (called an aneurysm), it puts you at risk for aortic dissection (the aorta tearing). That can be deadly (and dissection DOES have symptoms, but by then you’re in an emergency situation). Again, there aren’t symptoms of aortic enlargement, so it’s vital that a person who suspects Marfan syndrome have one of the following tests to assess their heart and aorta: an echocardiogram, a CT scan, an MRI, or a TEE. X-rays and EKGs will NOT diagnose an aortic aneurysm! Leaky/floppy valves, particularly the mitral valve, are another cardiovascular complication of Marfan syndrome.
 
MarFact #8: Marfan syndrome can also affect the ocular system. Most commonly a person could have severe nearsightedness, lens dislocation or retinal detachment. 60% of people with Marfan have lens dislocation and although it most commonly occurs in young children, it can happen at any age. However, early glaucoma, early cataracts, strabismus, amblyopia ("lazy eye"), and astigmatism are also associated with the syndrome. ‪#‎MarfanSyndromeAwareness
 
MarFact #9: And now, a hodgepodge of the other body systems! Marfan syndrome affects the skin. Stretch marks without significant weight gain is a symptom and they tend to appear in unusual places, like the shoulder blades. Marfan affects the nervous system, in that about 60% of people with Marfan can develop dural ectasia, a widening of the sac that protects the spinal cord. Many with it may be asymptomatic but dural ectasia can cause debilitating headaches when there is a tear in the sac (leading to a cerebral spinal fluid leak). Other issues associated with dural ectasia can include pain, numbness, and incontinence. Finally, research is ongoing to determine the effects of Marfan on the GI system. ‪#‎MarfanAwareness
 
Marfact #10: What do we hope to accomplish sharing these facts each February? Well, my hope is that by sharing, if you recognize the symptoms of Marfan syndrome in yourself or a loved one, you’ll take the steps towards getting evaluated. I was lucky enough that due to my Mom sensing that *something* was wrong, she insisted that the pediatrician figure out and he then recognized the signs.
 
Marfact #11: Marfan syndrome was first described by a French pediatrician, Antoine Bernard-Jean Marfan, in 1896. He had a 5 year old patient, Gabrielle, who had long limbs, poor muscle tone, and a curved spine. Bonus fact: it’s now believed that Gabrielle might actually not have had Marfan as we define it today, but instead a related disorder called congenital contractural arachnodactyly (also known as Beals syndrome). ‪#‎MarfanAwareness
 
Marfact #12: Did you know many people with Marfan syndrome have dental issues? These can include a high arch palate, narrow upper jaw, and TMJ. It's recommended that kids with Marfan see an orthodontist around 7 years of age. Patients with mitral valve prolapse or an artificial heart valve should take antibiotics prior to dental work to guard against endocarditis. ‪#‎MarfanAwareness
 
MarFact #13: Marfan syndrome is an autosomal dominant disorder. This means that it's a chromosomal change on a non-sex chromosome, and that if you have a known change to the gene, you have Marfan syndrome (for the sake of keeping it simple we're not going into benign changes and related disorders). However, because it's a syndrome, expression can vary widely, even within a family. When one parent is affected, each child they have has a 50% chance of inheriting Marfan syndrome. When both parents are affected, there is a 75% chance that a child will have Marfan (50% chance that the child inherits 1 change to the gene, 25% chance that they inherit both parents' changes). Chance doesn't remember, so it's not that half (or 75%) of your children will have Marfan, but that each individual has that % chance. ‪#‎MarfanAwareness
 
Marfact #14: Family medical history is an important consideration when seeking a Marfan syndrome diagnosis. Even if Marfan has not previously been diagnosed in your family, look for parents or grandparents who died from a heart attack or an unexplained cardiac death before age 50. Come prepared to your geneticist appointment with other medical information too. Issues like cleft palate or clubbed feet in the family could point to a related disorder. It doesn't hurt to bring photographs of family members who won't be at the appointment, either. ‪#‎MarfanAwareness
 
Marfact #15: Exercise, done properly, is important for people with Marfan syndrome. Exercise should be done in moderation (not to the point of exhaustion) and it's recommended that affected people stay away from contact sports and isometric activities. You can find more information at www.marfan.org/resource/fact-sheet/physical-activities-guidelines
 
Marfact #16: The Marfan Foundation (formerly National Marfan Foundation) was founded in 1981. They work to create a brighter future for those living with Marfan syndrome and related disorders. The Foundation does this through their 3 mission areas: support for those affected and their families, research for new treatments, and awareness.

Marfact #17: The Marfan Foundation both funds research into Marfan syndrome and related disorders, and helps connect researchers and patients for studies. If you're interested in participating in a research study, you can find those here: http://www.marfan.org/current-studies. Right now there are 4 studies looking for participants!

Marfact #18: Genetic testing exists for Marfan syndrome, and can be another tool in the diagnostic toolbox. However, there are limitations. Three disorders overlap on the FBN1 gene (Marfan, MASS Phenotype, and Ectopia Lentis syndrome), and genetic testing can not always distinguish between them. Clinical criteria can help differentiate. Also, many families have a change to the gene that is unique to them, so the first person in a family to be tested must have some symptoms before being tested, so that doctors know whether it's a disorder-causing mutation, vs a benign mutation. This is why the FBN1 test is not part of newborn screening panels. About 2-8% of people who *meet clinical criteria for a diagnosis* will test negative. Clinical criteria trumps the test result there. For those being tested for a family member's mutation, the "false negative" rate is less than 1%. When there is a known mutation in the family, embryos can be tested: there is no "too early" for testing.
While the role of genetic testing in diagnosing Marfan syndrome has expanded with the revised diagnostic criteria and genetic testing advances, clinical evaluation remains the mainstay in evaluating for Marfan syndrome. It is important to have genetic results interpreted by a knowledgeable geneticist.
For more information about genetic testing: http://www.marfan.org/…/genetic-testing-and-marfan-syndrome…

Marfact #19: The Marfan Foundation offers online resources especially for children and teens: The Teen Space and Kids Corner. The Teen Space is updated in conjunction with the Teen Council. The Kids Corner has fun games and videos for kids 12 years old and under. http://www.marfan.org/resources/patients/teens and http://www.marfan.org/resources/patients/kids
 
Marfact #20: The Marfan Foundation's first chapters opened in 1983, in California and New York. Now we have chapters and/or network groups in almost every state!

Marfact #21: Pregnant women who have Marfan syndrome are considered high risk. When possible, women should discuss pregnancy with their doctor prior to becoming pregnant, as there may need to be medication adjustments (for example, ARBs, a common class of drug used to treat the aorta, are not safe for pregnancy), or it may be wise to have aortic surgery done preventatively, depending on the wise of the woman's aorta. Women should have echoes at least once a trimester during pregnancy, shortly after delivery, and again about a month postpartum. Risk of aortic dissection is minimal when the aortic root is under 4 cm, and increases proportionally to the size of the aorta. Women with Marfan are not at a greater risk for miscarriage. As far as method of delivery, the risk is the same for women with an aorta under 4 cm, whether they have a controlled vaginal delivery or a c-section. Further research is needed to determine the best method for women over 4 cm, though it's thought that c-sections are less risky.
More information about pregnancy can be found here: http://www.marfan.org/…/fact…/family-planning-and-pregnancy…

MarFact #22: The Marfan Foundation has tools for medical professionals. The newest is the Marfan Dx app, which can help medical professionals diagnose Marfan and related disorders. It's available from the app store for iPhones, or they can go to www.marfandx.org. Share this with the med pros in your life!
 
Marfact #23: If you suspect that you or a loved one may have Marfan syndrome or a related disorder, the first thing to do is find a doctor who is knowledgeable about the condition. Ideally, look for a connective tissue disorders clinic, or a medical geneticist. Another option is to start with a cardiologist (heart doctor). The Marfan Foundation has a list of clinics who self-report a specialty in diagnosing and treating Marfan syndrome and other connective tissue disorders: http://www.marfan.org/resources/patients/find-doctor. If you don't find a clinic near you, contact the Foundation's support center, and they may have other suggestions for you. (Conversely, if you've found a local doctor(s) who have knowledge of CTDs, please let the support center know so they can pass these names on to other families.)
 
Marfact #24: Let's talk some disorders that are related to Marfan syndrome. First up, Loeys-Dietz syndrome. This was discovered in 2005, and many people with it were originally diagnosed as having Marfan. Because it's so new, and because so many people with it may think they have Marfan syndrome, it's hard to have accurate numbers on how prevalent it is. There are 5 types, the last of which was discovered last year. Features of LDS that differ from Marfan include: widely spaced eyes, other heart defects at birth, wide or split uvula, cleft palate, c-spine instability, translucent/velvety skin, significant food allergies and GI issues, clubbed foot, and craniosynostosis. But, like with Marfan, some have fewer outward features than others. They do not typically have lens dislocation, retinal detachment, or some of the lung issues that are seen in Marfan. Patients with LDS tend to have aortic dissections at earlier aortic diameters than Marfan patients, which is a reason that a timely and accurate diagnosis is vital. You can find more information on LDS at http://www.marfan.org/loeys-dietz and there is a special Loeys-Dietz track at The Marfan Foundation annual conference.
 
Marfact #25: Continuing with related disorders, today we'll talk Ehlers-Danlos syndrome. It is due to defects in collagen. There are multiple forms of EDS, with hypermobile type being the most common. Vascular-EDS and kyphoscoliosis-EDS can have life-threatening complications. You can find out some more about hypermobile and vascular EDS here: http://www.marfan.org/ehlers-danlos
 
Marfact #26: Other related disorders include MASS Phenotype (also on FBN1 gene, looks like Marfan but without aortic aneurysms or lens/retina problems), Ectopia Lentis syndrome (also on FBN1 gene, looks like Marfan but without aortic aneurysms), Beals syndrome (joint contractures are a hallmark), Familial Aortic Aneurysm, Stickler syndrome, bicuspid aortic valve, and Shprintzen-Goldberg syndrome. For more information on all of these, go to: http://www.marfan.org/about/related-disorders
 
Marfact #27: Do you know the 5 Ps of aortic dissection? They are pain, pallor (paleness), pulselessness (difficulty finding a pulse), paralysis, and parathesia (a tingling sensation, like when your foot falls asleep). Not all of these have to be present! A sense of impending doom is another common symptom of dissection. If you have Marfan syndrome or a related aortic disorder, make sure the ER rules out dissection with an echo, TEE, MRI, or CT scan: whichever can be done the most quickly and be expertly read. More information on how to advocate for yourself or a loved one during a possible cardiac emergency can be found here: http://www.marfan.org/expectations/treatment/emergencies
 
Marfact #28: Let's talk famous Marfs! Peter Mayhew and Vincent Schiavelli are both actors with Marfan. ‪#‎MarfanAwareness
 
MarFact #29: I hope that you've all learned something this month! If anything you've read makes you pause, please contact The Marfan Foundation! Their website is marfan.org and their phone number is 1-800-8-MARFAN. ‪#‎MarfanAwareness

     The month of February is Marfan Awareness Month. Within my circle of influence most know that I was diagnosed with Marfan Syndrome over 25 years ago. (My two youngest sons were diagnosed with Marfan Syndrome about five years ago) Often this condition is not known to the populace and sadly many in the health field are unaware of the seriousness of Marfan Syndrome.
 
     I often downplay the pain and strenuousness of daily life with Marfan Syndrome, but many who have been diagnosed don’t have that luxury. Their pain and procedures surpass mine 100 fold and daily living can be hard. I’ve connected with Marfan family’s whose young children have had rods placed in their backs, new lenses in their eyes, and of course open heart surgery.
 
     I thought having four heart surgeries and one brain surgery was a lot, but I’ve also read the stories of men and women who have had six and even 10+ heart procedures. Joint pain and dislocations (such as knees and shoulders) also make it difficult for many Marfan patients to be as active as they desire. I know that with my sons with Marfan Syndrome, their activity is often limited. The reality of the severity of this condition is often not known and it’s manifested differently in each case.
 
     The more informed we are, the more we will understand how one’s life is affected by Marfan Syndrome. Regular care and monitoring is vital to the longevity of Marfan patients.
 
     I am connected to a couple Marfan FB groups and have learned so much from the life stories of those within the group. I trust that I have been able to encourage folks as well by relaying parts of my story and how our family works to deal with Marfan Syndrome. I occasionally link my website, www.customscars.org, to their comments in order for others to read a little of how our family functions and survives if they like.
 
     One of the moderators on the Marfan Syndrome FB page is Maya Brown-Zimmerman. She is the most proactive Marfan patient and advocate I know. This month she has daily posted Marfacts (facts about Marfan Syndrome if you were confused) that give us all a deeper understanding of Marfan Syndrome. She has given me permission to use her Marfacts in today’s blog. You can also learn more about her family at www.marfmom.com.
 
     I have included the first 15 Marfacts and will blog about the final 14 come the first of March. Please take time to read these facts to be better informed about Marfan Syndrome.
 
Marfact #1: Marfan syndrome is a potentially life-threatening disorder of the connective tissue. Connective tissue is like the glue that holds your body together, which means that Marfan can affect many different parts of the body.
 
MarFact #2: Marfan syndrome is found equally among all ethnicities and genders. It affects about 1 in every 5,000 people, but it's estimated that only HALF know they have it!
 
MarFact #3: With proper diagnosis and treatment, the average life expectancy for people with Marfan syndrome is the early 70s (aka the same as the general population). Without proper diagnosis and treatment, the life expectancy drops considerably. This is why awareness is so important!
 
MarFact #4: Marfan is a syndrome (a collection of symptoms that tie together), which means that people can be affected in a variety of ways. There is only one "type" of Marfan, but the disorder ranges from severe (all possible manifestations showing in a newborn) to very mild (people who are not diagnosed until late in adulthood and have few symptoms).
 
Marfact #5: Let’s talk how Marfan affects the body. First up, the skeletal system. People with Marfan may be tall (in relation to their unaffected family members) and thin, with long arms, legs, fingers, toes, and faces. They may have flat feet, chests that curve inward (pectus excavatum) or outward (pectus carinatum), scoliosis, or kyphosis. It’s also important to point out that you don’t *have* to be tall or thin to have Marfan.
 
MarFact #6: Pulmonary system time! Many people don't realize that in addition to the cardiac issues (we'll get there tomorrow), lung problems can ALSO be life-threatening for Marfan patients. Possible pulmonary issues include restrictive lung disease, asthma, emphysema (without ever smoking), COPD, pneumothorax, and sleep apnea. You can even see these in very young babies. Obstructive sleep apnea is particularly common in Marfan patients.
 
Marfact #7: Marfan syndrome causes aortic enlargement, and this is the most dangerous aspect of Marfan because it does not have symptoms. The aorta is the main blood vessel coming from your heart. When it enlarges (called an aneurysm), it puts you at risk for aortic dissection (the aorta tearing). That can be deadly (and dissection DOES have symptoms, but by then you’re in an emergency situation). Again, there aren’t symptoms of aortic enlargement, so it’s vital that a person who suspects Marfan syndrome have one of the following tests to assess their heart and aorta: an echocardiogram, a CT scan, an MRI, or a TEE. X-rays and EKGs will NOT diagnose an aortic aneurysm! Leaky/floppy valves, particularly the mitral valve, are another cardiovascular complication of Marfan syndrome.
 
MarFact #8: Marfan syndrome can also affect the ocular system. Most commonly a person could have severe nearsightedness, lens dislocation or retinal detachment. 60% of people with Marfan have lens dislocation and although it most commonly occurs in young children, it can happen at any age. However, early glaucoma, early cataracts, strabismus, amblyopia ("lazy eye"), and astigmatism are also associated with the syndrome. ‪#‎MarfanSyndromeAwareness
 
MarFact #9: And now, a hodgepodge of the other body systems! Marfan syndrome affects the skin. Stretch marks without significant weight gain is a symptom and they tend to appear in unusual places, like the shoulder blades. Marfan affects the nervous system, in that about 60% of people with Marfan can develop dural ectasia, a widening of the sac that protects the spinal cord. Many with it may be asymptomatic but dural ectasia can cause debilitating headaches when there is a tear in the sac (leading to a cerebral spinal fluid leak). Other issues associated with dural ectasia can include pain, numbness, and incontinence. Finally, research is ongoing to determine the effects of Marfan on the GI system. ‪#‎MarfanAwareness
 
Marfact #10: What do we hope to accomplish sharing these facts each February? Well, my hope is that by sharing, if you recognize the symptoms of Marfan syndrome in yourself or a loved one, you’ll take the steps towards getting evaluated. I was lucky enough that due to my Mom sensing that *something* was wrong, she insisted that the pediatrician figure out and he then recognized the signs.
 
Marfact #11: Marfan syndrome was first described by a French pediatrician, Antoine Bernard-Jean Marfan, in 1896. He had a 5 year old patient, Gabrielle, who had long limbs, poor muscle tone, and a curved spine. Bonus fact: it’s now believed that Gabrielle might actually not have had Marfan as we define it today, but instead a related disorder called congenital contractural arachnodactyly (also known as Beals syndrome). ‪#‎MarfanAwareness
 
Marfact #12: Did you know many people with Marfan syndrome have dental issues? These can include a high arch palate, narrow upper jaw, and TMJ. It's recommended that kids with Marfan see an orthodontist around 7 years of age. Patients with mitral valve prolapse or an artificial heart valve should take antibiotics prior to dental work to guard against endocarditis. ‪#‎MarfanAwareness
 
MarFact #13: Marfan syndrome is an autosomal dominant disorder. This means that it's a chromosomal change on a non-sex chromosome, and that if you have a known change to the gene, you have Marfan syndrome (for the sake of keeping it simple we're not going into benign changes and related disorders). However, because it's a syndrome, expression can vary widely, even within a family. When one parent is affected, each child they have has a 50% chance of inheriting Marfan syndrome. When both parents are affected, there is a 75% chance that a child will have Marfan (50% chance that the child inherits 1 change to the gene, 25% chance that they inherit both parents' changes). Chance doesn't remember, so it's not that half (or 75%) of your children will have Marfan, but that each individual has that % chance. ‪#‎MarfanAwareness
 
Marfact #14: Family medical history is an important consideration when seeking a Marfan syndrome diagnosis. Even if Marfan has not previously been diagnosed in your family, look for parents or grandparents who died from a heart attack or an unexplained cardiac death before age 50. Come prepared to your geneticist appointment with other medical information too. Issues like cleft palate or clubbed feet in the family could point to a related disorder. It doesn't hurt to bring photographs of family members who won't be at the appointment, either. ‪#‎MarfanAwareness
 
Marfact #15: Exercise, done properly, is important for people with Marfan syndrome. Exercise should be done in moderation (not to the point of exhaustion) and it's recommended that affected people stay away from contact sports and isometric activities. You can find more information at www.marfan.org/resource/fact-sheet/physical-activities-guidelines