Growing up "healthy", learning your not..

Growing up I was "healthy" I mean sure even as a kid and as early as kindergarten and 1st grade I noted the little things other friends and classmates could do that I couldnt do (jumping jacks w straightened arms/elbows, sitting indian style for instance) but I still played the same games, ran and biked and skated, (albight more clumsily but hey, I was a klutz!) :) played war, climbed trees, climbed the hill to sled behind our house, etc. I did the same school work as my classmates, and struggled in some classes, excelled in others (math, english). In other words I didnt know I was sick and for that I am actually grateful!

Sure I had a few surgeries (tonsils, adenoids, ear tubes, hernia and as a teenager carpal tunnel releases on each hand) and saw a Cardiologist on a yearly basis first at UW and later at Dean Medical Center but still I wasnt that different, I didnt know I was different. I was self-conscious of my "outie" belly button; my friends thought it was "soo cool". I was self-conscious of my stomach which was never flat so I wore shirts over bathing suits. I got severe headaches to which I came home from school it seemed often sick to my stomach and vision issues, and stomach aches to which I swore id never eat again and which I never understood bc I never knew anyone else who had the same "awefulness".

Later as a teenager I did sports (mostly grade school and mostly goofing around w/my friends) and I had a job first at the grocery store and later as a waitress and every morning id wake up exhausted and wishing I could just sleep in, id sludge through the day, wish the work night was over (usually 4:30 or 5 till 9 and sometimes 10 at night) tired and wishing for the weekend so I could sleep in a little more. My body ached something fierce those long days and nights at work on my feet the whole time but I didnt really know that everyone didnt feel that way because I had always had pain and discomfort when id be on my feet for more than a short while even as a kid. Anything was a possible chair, counters, floors, buckets, etc for just a minute or two!

It wasnt really until I was 15 or 16 that I started to really notice big changes and maybe it was I had my license and car by that time so I wasnt biking and walkiing to work and school everyday and so probably even less in shape although I was always small in size. I think it started w the carpal tunnel symptoms getting much, much worse (i'd had the tingling and numbness even in grade school when id write for long periods) and when I saw my PCP she sent me to a local Neurologist who did testing, confirmed it was CTS, noted other "oddities" and sent me on to a Orthopedic dr. who noted more things and from there to a Hand specialist, another 2 Neurologist, repeated more in-depth testing, they all scratched their heads and didnt know what was causing all the unusual symptoms and features. From there it was a Genetics team, Peds Rheumatologist, Opthalmologist and other specialists over about 1 1/2 yrs.

During all this time I did know there was the odd things as mentioned above and I had further cardiac changes which werent expected (from what id understood) and eventually after so many drs., so much testing and no real answers my parents just said it was enough and we circled back to the original Orthopedic dr and I had carpal tunnel surgery as a teenager (the first of many of these surgeries) and in a year or so after graduating and working as a CNA while going to a local Tech College I wound up with a difference PCP and began the lovely task of looking for a new Cardiologist.

Some further issues and drs and I wound up at CHW where I am now for Cardiology care and within a few months I had a underlying diagnosis (MPS I H/S and enzyme deficiency disorder - www.rarelydefined.blogspot.com) and a few months after that a treatment that literally changed my life. ... I used to think id have wanted to be diagnosed as a kid but I honestly dont know now; sure I knew I had differences but how much different would my life have been and how many less experiences would I have had (would I have done the goofy sports I did (I say it like that bc like I said I did it more to hang out w friends and less about the running although that was ok to!) :) or would I have worked and thus been able to buy a car like I did and most especially would I be as independent about my very complex care as I am today if I had grown up knowing I really was very uniquely different? Im not sure id be having the experiences I do now if I didnt first have a 'pretty normal" life, experiences which have included working directly with the Pharmaceutical company on patient advocacy, traveling more in 7 yrs than I did in 21 yrs before... Would I have worked w/in Pain Advocacy bc of the direct experiences I had with pain mngmt and having to fight for my care with this? And would I be as involved in something like WI-ACHD if someone else knew I had something as a kid and did all my care arrangements then so I probably wouldnt have just jumped in and done most of it now? I love the job I have (who can argue with working in rare disease advocacy, directly affecting research and the researchers in their tudies for ones disorder before the research ever goes beyond the bench and animal testing? Getting paid extremely well for doing this said job and loving it and knowing you'd do it for free just to be a part of changing the face and future treatmetns of your own disease?

I dont know I think sure if I was dx'd as a kid maybe id have less symptoms now (who knows there arent a lot of us adults and even less w my specific symptoms) and maybe id still be doing all the same things but im not sure id go back and do it over if given the chance to be dx's earlier w the possible chance of less symptoms as an adult. :)

Please share your story of ACHD or in some others case living with an underlying diagnosis that caused/is causing changes you'd never expected as a kid when thinking of "what I want to be or who I want to be whwn I grow up...

Erica
MPS I w/as a result secondary ACHD issues.

July 12, 2012 Michael Earing, MD

Thanks to major advances in treating congenital heart disease, more than 90 percent of all children born with heart defects will survive to adulthood. This is a major success story in the medical world and has resulted in a new group of adults with congenital heart disease.

There are more than 1 million adults with congenital heart disease living in the U.S., of which about 15,000 live in Wisconsin. While many are doing well, these adults — regardless of their current condition — are at risk for unique health problems. For this reason, the Adult Congenital Heart Disease Program was developed to provide lifelong follow-up care by physicians who specialize in caring for adults with congenital heart disease.

The ACHD Program was created by Herma Heart Center at Children’s Hospital of Wisconsin in partnership with Froedtert & The Medical College of Wisconsin. It offers comprehensive care, including diagnostic testing, surgery and heart catheterizations.

I invite you to watch my video below to learn more about why specialized care for these adults is so important.

If you or a loved one is living with adult congenital heart disease, I urge you to seek regular follow-up care. Learn more about the ACHD Program or make an appointment by calling (414) 266-1608.

~ Michael Earing, MD, program director of ACHD Program at Children’s Hospital of Wisconsin and associate professor of Adult Cardiovascular Medicine and Pediatric Cardiology at the Medical College of Wisconsin

The ACHD program at Children’s Hospital of Wisconsin is the largest program of its kind in the state. Three of the less than 40 physicians nationwide trained to care for this population are physicians in the ACHD Program. Our surgeons are the only board-certified congenital heart disease surgeons in the state.

http://www.youtube.com/watch?v=mwBAoWoj1Nw - Dr.Earing video

Doctors are amazing because their job is very hard to do. Sometimes doctors are on call for days at a time. Just think, if we did not have doctors, some people would not be alive today or they would be very sick. The reason why doctors help people is because they care and they want to do good things for people.
The word hero means many different things to many different people. To some, a paramedic is a hero, to some it may be a member of their family, but to me the word hero means one thing and that is my doctor.
Dr. Earing I think you are the greatest man I have ever met in my life and you always will be. I would not have met you if it was not for my mom. Every year I have a physical and last year at the end of my physical, my mom mentioned to my pediatrician, Dr. Smith, that I have a lump on my toe, so he ordered an x-ray. He had recommended that I see Dr. Konkel, an orthopedic doctor, at the clinic. Dr. Konkel had examined me and noticed that my toes were “clawing” which he said could be a symptom of a connective tissue disorder. He suggested that we make an appointment with a rheumatologist at Children’s Hospital. I saw Dr. Williams at Children’s Hospital who diagnosed me with Benign Hypermobility Ehlers-Danlos Syndrome. As part of Dr. Williams evaluation, he ordered an echocardiogram to rule out mitral valve prolapse (MVP). So I had the echocardiogram done and the echo tech told us that Dr. Williams would get the results later in the week and will call us. Dr. Williams called my mom with the results and said that the good news was that there was no sign of MVP but that they found an incidental finding and that was that I have an anomalous right coronary artery which is a congenital defect. Dr. Williams said that Dr. Earing, the cardiologist, would be calling later in the day to explain in more detail what this all meant. Dr. Earing called my mom and said that he wanted to see us in the office so he could explain my condition more and what needed to be done.

So on May 3, 2010 my Mom and Dad and I had an appointment with you. You told my Mom and Dad first about my heart problem while I was out of the room and then when I came back in you then talked directly to me about my diagnosis. You explained to me that I had an anomalous right coronary artery and this condition affects 0.1% of the population. You also told me about the condition and what it meant. You said that this condition is associated with kids who have collapsed suddenly and died playing sports such as basketball and football. You also told me that in order to fix this problem and never have to worry about it again, that I would have to have open heart surgery. You explained to me how the heart works and why it was important for me to have the surgery done and why it was so important for me to limit my activities until after surgery. That day I was pulled out of gym class and sports and went from being a very active 13-year-old teenage girl to being very limited in the physical activity that I could do until after the surgery. I was too shocked to understand all the details you explained about my surgery but what stood out the most to me was how reassuring and encouraging you made me feel. I really appreciated when you gave me your business card and said that I could e-mail you with any my questions and that made me feel like you really did care about me. I left your office feeling reassured by all of the things you told me and I just wanted to get the surgery done and over with so I could go back to being active again.

The week before my surgery, my parents threw a bonfire party for me and invited our neighbors. I could not believe how many people came because it was really short notice. I mean people canceled plans to come to this. I was so amazed about how much people really do care about me. To really top the neighborhood party off, once it got dark one of my neighbors that lives across the street asked if we could all gather around the bonfire and hold hands (there were about 30 people) and he said a special prayer for me and then we all said the Our Father prayer. It was so cool!!!! The next day we had a family party and that is when I felt like I wanted to cry because my family from both sides came and all my cousins were there. It was a great experience and I thank my family and friends for all being there.

So on July 2, 2010 I had open heart surgery. But when surgery came I was really scared and did not want to have the surgery done because I thought that I was going to die. But I knew in the back of my head that you, Dr. Earing, knew what was best for me and that God was with me every step of the way not to mention my family and friends.

So after my surgery, I was in the hospital for about five days. A week or two later, I went to go see you for a follow-up visit, and you said I was doing great. You said that I would be on restrictions until August 30th or until I had my cardiac stress echo done. So on August 30th I had the cardiac stress echo and you came in to see me and said it looked great and you signed a card that said that I had no restrictions and could start playing sports with no limitations. So it came time to try out for basketball and I e-mailed you to make sure that I was fine to try out and you said yup everything is fine, and good luck. So I went to try out and I felt great just getting back into sports and all. But later during tryouts, I had three asthma attacks. The next day my sister, Amanda, had an Everyday Hero’s concert and you were there because your three girls are in my sister’s grade and because, of course, you were also a hero in the concert. Afterwards I went to go say Hi and you asked me how try outs went and I said, “Well to be honest with you they did not go to good.” I said my chest still hurts a lot and I had three asthma attacks. You later called my mom and said that you wanted to see me in the clinic and ordered a stress echo. So I had to run at 10:00 in the morning…not really my ideal time to go running but I did it anyways. You said that I had exercise-induced asthma and you put me on an Advair Diskus and it has helped so much. Since you have put me on the Advair Diskus, I have not had a lot of trouble with breathing and I have not had one asthma attack since. I was also having a lot of pain in my scar so you put me on naproxen and I still have pain in my chest but not as much as I had before.

Dr. Earing you are a hero to so many people, but especially a hero to me. You have touched my life in so many ways, more than you can even image. I feel I can’t express that enough. I trust you and believe that you know what is best for me. I know as I get older I will continue to be under your care. My past experiences with you have shown me how divine you are and I don’t use the term divine lightly. I could always look at you and see your mind working; you were so determined to help me understand that the pain I was feeling was real but that my heart problem was fixed. I do now understand that my heart is fully fixed and appreciate you reassuring me of this. I also understand that I have exercise-induced asthma and need to take medication everyday and before I exercise. Dr. Earing I still feel like you are helping me to understand that I don’t have any physical restrictions even though I still have some pain. You are also helping me understand more about my condition in a scientific way… which I personally think is totally awesome. I can’t thank you enough Dr. Earing for replying to ALL of my e-mails and answering ALL of my questions. I feel that you saved my life because I believe that everyone makes mistakes, so maybe if a different cardiologist would have examined my echocardiogram they might have missed what you found. Therefore, I think you are a hero because of ALL that you have done for me.

What are heroic qualities? Caring - Dr. Earing you are so caring to me and you listen to what I have to say. Trust - is a very strong word and it takes a lot to have full trust in someone but Dr. Earing you have earned my trust the first time I met you. I trust you 110% even if I don’t like what you have to say to me, I still listen because I know you know what’s best for me. I also appreciate your analogies. Another reason why I trust you 110% is because you flat out tell me if something is going to hurt or how something should be, and if the pain I am feeling is legit. You are very honest with me and upfront. Also, Dr. Earing you always tell me what you think is the best option for me. Dedication - doctors have to be really dedicated to their job, they also have to love doing it. From what I have seen and heard, you are very dedicated to your job and your patients and I know for a fact you have been dedicated to me.

I want to thank you for all that you have done for me. I was so worried about having surgery, but you reassured me in so many ways. You said that if I had any questions to make sure that I ask you and you would answer them (I bet you have had second thoughts about giving out your e-mail address again, ha, ha). I had tons of questions and I appreciate so much how quickly you answered them - all within 24 hours. I love knowing that I can ask my doctor anything and you will answer with 110% honesty. Dr. Earing, I also feel that you know what’s best for me. When my family and I went to see you for the first time to talk about the surgery in detail, I was getting really freaked out. What helped me not get as freaked out is when you told me that this is a totally safe surgery and that surgeons do this type of surgery all the time. In fact, you said a lot of things to make me feel better and I trusted you. Dr. Earing you made me feel reassured that I would have a successful surgery and that made me feel a thousand times better.
Dr. Earing, I can’t thank you enough for all that you have done for me. You truly are my number one hero, and you will always be my number one hero. Sam Guido ACHD Patient Age

WI High Risk Insurance Pool Insurance Plan for those not covered by traditional private insurance and not eligible for disability programs or state medicaid programs.

http://www.facebook.com/HIRSP

Actual website: http://hirsp.org

Phone: 1 800.828.4777

ACHD Upcming Webinars, Past webinar Anxiety and depression

Upcoming Webinars (registration required) through the Adult Congenital Heart Association:
http://www.achaheart.org/library-education-materials/webinars.aspx

Coping with Anxiety and Depression in the ACHD Patient: Past Webinar:

http://vimeo.com/38201535
http://www.achaheart.org/library-education-materials/webinars.aspx

Webinar: ACHD Valve replacements

http://vimeo.com/36346383
Link: http://www.achaheart.org/library-education-materials/webinars.aspx
- A video by the Adult Congenital Heart Association on Valve Replacements - worth watching!
About 1 in 5 adults with congenital heart disease (ACHD) are hospitalized for surgery. Most surgical procedures are for valve replacements.
If you are an ACHD patient facing a valve replacement, you will want to attend this webinar. You will learn why you might need a replacement and what the surgical and percutaneous (catheter) options are. The focus will be on valve replacement.
Look for further webinars from ACHD to come and will also be posted in the ACHD resource section on the R hand side of the blog.

Insurance options; Insurance with an CHD

In the coming weeks I hope to compile information on what the different insurance options are available here in WI. Several times over the WI_ACHD list-serve ive seen now members asking or talking about their insurance status and I have been thinking about this since. I also will soon post a list I have compiled over the years of organizations and charities that offer financial and insurance assistance for programs such as high risk insurance or medication costs. If you would like a copy of this comprehensive (albeit there is no way to list all programs available) word document of assistance programs here in WI and national email me at thielerica@gmail.com In the mean time some of the options I hope to cover to some degree include:

Badger Care Badgr Care Plus and Badgr Care Core+ One is for families with small children making under a certain income limit per year depending on family. The other program Core+ is for adults without children lacking insurance who also make under a certain income limit per year.

WI-High Risk Insurance pool - (HIRSP) A plan offered to people in-eligible for private or federal insurance due to pre-existing conditions (which will no longer be a cause for dismissal or denial under the new Federal Halth Plan commonly referred to as 'Obama Care') HIRSP is a high risk insurance pool to cover more people who otherwise would not have health insurance. Deductibles and co-pays can often be very expensive although some underlying diseases offer programs to help cover such costs. As an example for my disorder there is a program through uneedpsi.org (Patient Services Inc) to help individuals covered under such plans as these cover the insurance costs and have access to life-saving treatments.

Medicaid - also referred to as Badger Care but differing in set-up from Badger Care Plus and Core+ plans although eligibility is also based on income limits and in some cases to those who are deemed disabled but not eligible for medicare due to not enough 'working credits' or no underlying working history.

Private Insurance - Often offered through ones employer health plan but can also be guaranteed to kids of parents covered under such policies up till the age of 26 with the new federal health insurance plan again ocmmonly referred to as 'Obama Care'. Usually the private insurance plan will require proof of post-secondary enrollemnt on a yearly or twice yearly basis.

Private Insurance under a parent or guardian as a disabled individual: This option is usually for those individuals who have been classified as disabled and met their parents/guardians health plan 'disabled family member' requirements. Typically when one is deemed disabled the individual or family can contact the insurance company/employer insurance group health plan provider before the age of 18 and ask for paperwork to establish longer term coverage and the insurance plan/company will go through a process and decide if the individual meets their standards for disabled coverage. This typically requires yearly renewals and paperwork verification.

Katie Beckett - The Katie Beckett Program is a special eligibility process that allows certain children with long-term disabilities, mental illness, or complex medical needs, living at home with their families, to obtain a Wisconsin ForwardHealth Medicaid card.
Children who are not eligible for other Medicaid programs because the income or assets of their parents are too high, may be eligible for Medicaid through the Katie Beckett Program. A child may be eligible for this source of Medicaid even if they are currently covered under a private health insurance policy. Although this program typically applies to children under 18 I was reminded that there are many ACHD'ers who also know others with small children with CHD and this program can help those children.

Look for further information on some of these options soon!
ET (WI.ACHD)

Latest Wi-ACHD information and on-going additions to blog

WI-ACHD List-serv email - if you are not on the group email and reading this but would like to receive any emails from WI_ACHD Founder Patty Brown or from myself (running this blog) please feel free to email wi_adult_congenital_heart@yahoo.com - for blog quesitons or ideas please email me (Erica) at wi.achd@gmail.com or leave a comment in the comments section. - Erica ------------------------------------------------------------------------------------------------------------------------ From Patty - Hi all, I hope everyone is enjoying this wonderful spring weather!! I want to get going on desiging a brochure. My thought is a trifold, full color brochure that identifies us, and helps people find us. It will include our email address, blog address, facebook page, etc. I want to get them to healthcare providers all over Wisconsin to get the word out to ACHD patients that do not know we exist. I think the best way is to get the information to healthcare facilities. I like that our blog shows "faces of WI-ACHD" because it makes us real. Adults from 18 to 60 and many different backgrounds are a part of this group. At first I thought about a "poster child" on this brochure, but then I thought it would be better show that there are a lot of us from all over affected and we can carry out the "faces of WI-ACHD" idea as well. I am asking if you would consider sending me your picture so that I can put it into this brochure to fill in the background. It doesn't have to be a formal pic -- even one from every day life or doing something you enjoy. I will get my graphic artist at Northstar Printing to then put them all together. Dr. Earing is suggesting a less formal meet and greet this spring, and then having his office host a "community meeting" in fall. I think it is important for us to get together -- and May sounds good to me. Dr. Earing suggested a bowling night or something similar, instead of a formal "meeting" -- and to make it fun. What is best?? A week night?? A Sunday afternoon?? Let me know your thoughts, and if anyone wants to help organize our first meeting - speak up. Patty ------------------------------------------------------------------------------------------------------------------------ -This is Erica again. I am continuing to collect pictures for the 'faces of wi-achd' slideshow and so with permission will use any pictures we receive here on the blog as well. If there are any articles anyone has found interesting and would like to share here please fwd those and I will add to our resource section which I hope to make in to an area that anyone can go to and find some of the latest journal articles that have been published on our disorders, syndromes and latest research. (pubmed is an excellent resource for this). I also once I get time would like to do different posts on different underlying CHD diagnoses including some of what our members are living with and including some of the genetic syndromes that have also been shared. Some of these can be passed on to children and I believe knowledge is power. I enjoy learning about what others are living with and how these different disorders and syndromes are treated, prognosis, etc and would like to share what I find with others. This will take some time and be an on-going process in-which I hope to get feedback on what you all think along the way. Thanks for stopping by and if you have suggestions please do feel free to chime in - we want this to be a community project - I will be the facilitator of sorts but this is everyones blog to share our lives, our triumps, family, surgeries and anything anyone wants to share! :)

Krystal, Age 27 newly acquainted to ACHD; previous CHD pt.

Hi Everyone, My name is Krystal Wutt, I am 27 years old, and I live in Stevens Point, Wi. I was born with a hole in my left aortic valve but it was not detected until I was about 3 or 4 years old. I was sent from doctor to doctor, they all kept saying I had asthma, because of my shortness of breath and low energy. I finally was referred to Dr. Friederg, who right away had me come in and they sent a balloon up through my thigh to my heart and thats how they were able to tell what the exact problem was. At that time it already had a very small leak and because it is in my family but skips every 3rd generation, I was the one to get it and they determined I was born with it. Dr. Friedberg and his team were so awesome, they all became like family to me, Dr. Friedberg just wasnt my doctor he was my best friend. I saw him for many years and at the age of 15 I had my first open heart surgery done by Dr. Twedell and they sewed my hole which was at the time the option we wanted to go to give me time to have children because that was always my number one dream:) I am now 27 was not blessed with having children and now with Dr. Friedberg being retired and my age I am now Dr. Earings' patient. I went to see him for the first time in Feb. of this year to perform the echo and the news was my valve is leaking pretty good and surgery is being put in order. This time I am going to go with a mechanical valve because I just dont want to have to go through with another surgery in x amount of years, I want something that will last a long time. I have my consultation with Dr. Twedell on April 6th to go over everything and hopefully set a date for surgery then. I also learned I have anxiety and have been put on meds for that as well, for 2mths I couldnt do anything, didnt want to do anything, couldnt relax, couldnt sleep, couldnt function properly, dizzy and nauseus all the time. So needless to say this year has not started out the way I was hoping but I know in the long run it will all be worth it. We all just have to keep fighting and doing what we can:) I am so thankful to those of you who have started this, help with things, and for everyone sharing their story. Its great to know and be able to share our stories with people who can relate. I hope to meet all of you one day:) You can also find me on facebook, Krystal Selthofner Wutt, if you would like to chat more with me def send me a friend request and we can keep in touch that way as well:)

Patty Brown, WI-ACHD Founder

My name is Patricia A. Brown. Most people call me Patty. I am 45 y/o and currently live in Brown Deer, Wisconsin. I am a lawyer and I am self employed with a full time law practice. I also am part of a family printing business part time known as Northstar Printing & Graphics. Both businesses have websites if you care to check them out. www.patriciabrownlaw.com and www.northstarprinting.net I came from a large family -- I have 11 siblings. One of my older brothers and I were born with a congenital heart defect. My brother had a VSD repair in approximately 1960. He is 55 years old and never had any further known problems. I was born with ASD which went unnoticed for 8 years. I was told that since my heart had pumped irregularly for 8 years, my pulmonary valve became stenosed. My parents were told that without surgery I would die before I was 10 y/o. I underwent surgery in 1974 at Children's Hospital in Milwaukee by Dr. Litwin. He patched the hole in my atrial wall, and repaired my pulmonary valve. After that surgery, the valve always leaked, but I had normal pulmonary pressures. I was mostly fine, but always became out of breath pretty easily and couldn't keep up with my peers in athletics. My child cardiologist was Dr. David Friedberg. I didn't really follow up with a cardiologist once I hit adulthood until 1997 when it became clear that I had atrial tachicardia. I was referred to an electrophysiologist who did an ablation, but it didn't work because of too much scar tissue from my heart surgery. The arrhythmia was controlled by medication for about 10 years while I was bumped around from one adult cardiologist to another at Aurora. In 2006 my annual echo showed that my right ventricle was more enlarged, and I underwent a catheterization which still showed normal pulmonary pressures. It was determined that the leak in my pulmonary valve was getting worse. Each year thereafter the echo showed the right ventricle more and more enlarged and in 2010 they found me in atrial flutter. Aurora moved me to the heart failure clinic at St. Lukes, and that is when I decided it was time for a second opinion. I went outside of Milwaukee to a group of cardiologists in Green Bay who told me that I needed an Adult Congenital expert. That is when I learned about Dr. Earing. I saw Dr. Earing in April, 2010, and I had open heart surgery in June 2010 at Children's Hospital by Dr. Tweddell. I was the biggest baby in the CICU that week. They replaced my pulmonary valve with a bovine valve, and now I feel more normal and healthier than I have ever felt in my entire life. Last year I participated in the US Bank climb and trained for 150 mile bike ride. Unfortunately I broke my arm 2 days before the ride and could not participate, but I was physically ready for it. These are things I was never able to do prior to my valve replacement. Dr. Tweddell also repaired my tricuspid valve and a MAZE procedure to correct the arrhythmia. I needed a pacemaker after the surgery, but feel great.. Six months post op my right ventricle was normal size. This was an amazing difference from the heart failure clinic at St. Lukes, and I can only wonder why none of the treating doctors had referred me to an Adult Congenital expert much sooner. I did go to Mayo clinic for a second opinion regarding the need for surgery. Mayo has the largest adult congenital clinic in the world, and they told me the same thing Dr. Earing had told me. I felt really good in my decision to stay at Children's for my heart care. Thanks. Patty

Jordan Anderson - MASS Phenotype

Good morning! My name is Jordan Anderson, I am 25 years old, and I have a connective tissue disorder (I’m told M.A.S.S. Phenotype most likely Ehlers Danlos syndrome. It is like Marfans without a couple serious symptoms like retinal dysplasia and aortic dissection). I live in Greenfield, WI with my husband and large Newfoundland named Salty. I work at MCW doing clinical cancer research for patients with multiple myeloma and leukemia. I have attached a picture of my husband and me on our wedding day this past July! J I am very grateful to be a part of this ACHD community and I am so thankful to Dr. Earing for finally putting a name to my disease! When I was 14, my parents brought me into the doctor to get my back checked. I was referred to an orthopedic doctor who diagnosed me with severe kyphosis (normal thoracic spine curvature is approximately 25-35 degrees. My curvature was 75 degrees). Since I was still growing, my doctor decided to put me in a back brace which I wore for a horrible 2 years. Luckily, the back brace worked and my curvature has been at 45 degrees for the past 11 years. -7- It was until college that my next symptom surfaced. I was 19 when my primary care physician heard a slight murmur. She referred me to a cardiologist in the Green Bay area (where I am originally from), and he diagnosed me with mitral valve prolapse and a minor ebstein’s anomaly. I was put on observation. After that, I started having all of these other issues which were treated independently. I have attention deficit disorder, TMJ disorder, I have hypermobility in most of my joints, I have horrible circulation, palpitations, hypotension, muscle spasms (I currently get injections which are amazing at relieving pain!) and other nerve issues, skin sensitivity and other skin issues, fatigue, and the list goes on. When I moved to Milwaukee 4 years ago, I believe I saw a cardiologist and was later referred to Dr. Earing because they believed I had a congenital disorder. It was then that Dr. Earing put all the pieces together for me and diagnosed me with a connective tissue disorder. Most people feel bad for me when they find out I have this disorder, but I am glad that I do. Although it is a big pain to deal with most of the time, it has made me the strong and confident person that I am today. Most recently I have begun working out and really pushing myself physically. I was always told (and told myself) that I could not do any cardio because of my heart condition. In reality, I was holding myself back by saying I couldn’t do this. I’ve started jogging and rock climbing and love it! I do have to wear a heart monitor and blood pressure monitor, but I feel so accomplished! I’ve signed up for the color run, the dirty girl mud run, and the tough mudder this year and am so excited to get over this hurdle in life and push myself to the limits. I love to travel, hunt, fish, do archery, backpack and camp, dance, I volunteer with my dog doing therapy, shopping has always been a passion, and generally love living life to the fullest. Each day is a gift and life is too short to hold yourself back J Thanks! Jordan Anderson Clinical Research Coordinator Medical College of Wisconsin Cancer Center Clinical Trials Office

Pregnancy and ACHD

Another American Heart Month has come to a close. For the past four weeks the we’ve been bombarded with everything from commercials and news stories to diet tips and red dresses. So what have we learned - specially women? There are the usual grim statistics: Heart disease is the number one killer of women; heart disease remains the number one cause of death in the US for both men and women; heart disease, in all its forms, is responsible for over 400,000 deaths a year among women – more than all forms of cancer combined. And although new research on the importance of heart-healthy diets, exercise and quitting smoking have decreased heart disease rates among men in the past 30 years, the rate for women hasn’t budged. We’ve all heard or read about the signs and symptoms of heart disease in women and the risk factors. Yet there is one huge area of female heart health not found at the forefront of public education: pregnancy and heart disease. “Over the last ten years we’ve seen more and more women with congenital heart disease survive to grow into their reproductive years,” said Nazanin Moghbeli, MD, MPH, FACC, the director of the Women’s Cardiovascular Center at Pennsylvania Hospital. “Some women with repaired congenital heart disease can have a safe pregnancy with little risk. However, the normal physiological changes that occur during pregnancy, particularly those during the second and third trimesters, can worsen symptoms of congestive heart failure and arrhythmias and cause problems to develop - even in women exhibiting no symptoms before pregnancy. And no two patient situations are alike. A woman with heart disease should see a cardiologist for a full evaluation and risk assessment prior to conception, and a tailored course of treatment personalized to address her particular needs throughout her pregnancy.” Dr. Nazaqnin Moghbeli, director of the Women’s Cardiovascular Center at Pennsylvania Hospital According to the American Heart Association, consulting with a cardiologist specializing in adult congenital heart disease and pregnant women allows time for a physician to treat any problems that could arise during your pregnancy. There are even some types of heart disease considered so high risk that pregnancy isn't recommended, Armed with complete medical histories, modern diagnostic tests, procedures and medications, physicians can now better assess and effectively manage the treatment of women with existing heart disease prior to pregnancy. As many women are waiting longer to become pregnant, the spectrum of cardiovascular disease among pregnant women is changing as well. “There are ways to optimize outcomes for pregnant women with structural heart disease, as well as ways to minimize the risks of complications that can arise during pregnancy,” said Dr. Moghbeli who regularly teams up with Penn Medicine obstetricians to treat pregnant women with heart disease “Together we have thie outstanding opportunity to educate women as to their cardiac risk and help them both before, during and after pregnancy. Where to start? Women with a pre-existing heart condition should take special precautions under the supervised guidance of a physician before and during pregnancy as these conditions may increase a woman’s risk for complications during pregnancy. For some women their heart or vascular conditions aren’t identified until they are pregnant. Women should also know and understand the changes that occur to the heart and blood vessels during pregnancy since they add stress to a woman’s body and cause the heart to work harder. They include increased blood volume, cardiac output and heart rate and usually, decreased blood pressure. During the first trimester, blood volume increases 40 to 50 percent and remains higher throughout the pregnancy. It is normal for a woman’s average heart rate to increase during pregnancy by ten to 15 beats per minute. During the nine months of pregnancy, women can also develop preeclampsia, the onset of high blood pressure and excess protein in the urine after 20 weeks of pregnancy. Preeclampsia must be caught and treated swiftly. A leading cause of preterm births, there is no known prevention against preeclampsia. It also increases a woman’s risk of heart disease after pregnancy. Gestational diabetes and gestational hypertension - or gestational high blood pressure - also place women at a significantly increased risk of heart disease, even after delivery. Want to learn more? Click here to listen to an interview with Dr. Moghbeli discussing ways to minimize risks and optimize outcomes for pregnant women with heart disease. - Google Alert (posted under ACHD resources and links)

Living with ACHD and rare disease

Hello All, I have a bit of a more meandering story but have been seeing Dr.Earing since he first started seeing patients at CHW-HHC. The only reason I found him so quickly was that previous spring I emailed the HHC clinic administrator to see if there was anyone he recommended for my issues and he told me about this new dr coming to HHC from his fellowship at Mayo in Rochester. I have been a patient ever since and see him now every 3-6 months, typically every 6 months with repeat Echo's. To back up a bit though I was diagnosed with what was thought to be congenital aortic valve disease at age 3-4 and originally saw a Peds Cardio at UW Hospital in Madison and then in high school switched to a Peds Cardiol (when my insurance changed) at Dean Medical Center also in Madison and saw Dr.Weinhaus for the next 4 years. As I aged out of that he wasnt kidding when he said it was a diffeent world in the adult Cardiology land and began to look for someone who was a good 'fit' for my care team. I also per Dr.Weinhaus was seeing many different specialists including Peds Neurologists, Rheumatologsts,several types of Otthopedic drs., a Ortho Hand dr., Opthalmology, a Genetics team at Waisman center at UW and other drs as no one could figure out 1. why I had carpal tunnel so severely at such a young age and 2. why I had other 'peculiar' symptoms and changes such as mitral valve changes, facial coarsening, joint stiffness (present from a very early age), a previously treated herna, and a host of other unexplained issues that each of these drs suspected all tied in to a larger underlying problem. In a period of 1 1/2 yars while in high school I saw 6-10 different specialists all while each specialist would frequently test for one issue or another and frequently add new 'little' peculiarities to my chart. Right after graduating I ended up having carpal tnnel releases on each hand anyways although alot of permanent damage was done to the nerves and thenar muscle(s) in each hand. Fast fwd after graduating I moved to the Port Washington area while going to school near Sheboygan and initially saw a Adult Cardiologist at Columbia St.Mary's and an Electrophysiologist out of a sister hospital. A year-ish later I was having quite a bit more problems with alot of symptoms that where either cardic or autonomic related in addition to other unexplained issues and this is when I contacted the clinic admin at CHW-HHC. The end of august/beginning of sept 04 I first saw Dr.Earing and I believe it was the 3rd appt with him in Nov that he and I sat down and he laid out what he thought I had that explained my symptoms from the cardiac issues to issues I had as a child up till now. Needless the dx was a shock and I remember his telling me about it and saying he didnt know which type I had and was sending me to Genetics at CHW. I of course like any sane patient went home and began researcing the diagnosis. A little over a month later I saw Genetics, the blood and urine tests where done and it was confirmed I had MPS type I (mucopolysaccharidoses type I Hurler Scheie Syndrome). 3 months later I started the enzyme replacement infusions at CHW and except for occassional missed doses I have been getting this infusion every week over 4-5 hours at CHW for close to 7 yrs now. Since that time I have had atleast 2 dozen surgeries and procedures for repeat carpal tunnel, a thenar tendon transfer (repair) shunt surgeries and revisions (12 this year alone for shunt), repeat hernia, cervical spinal decompression and laminoplasty, lumbar nerve root decompression and a host of other surgeries. Cardiac wise we are trying to put of valve replacements for as long as possible as it will be both mitral and aortic valves replaced and because of my underlying disorder and the storage that would re-accumulate from the MPS in any bovine valves we will have to do mechanical valves with subsequent coumadin. Due to severe narrowed airway and difficulty with anesthesia and underlying autonomic issues + neuro-endocrine (cortsol deficiency w/chronic daily steroid) and restrictive lung disease the surgery will be hard on my body and potenitally dangerous. At this point my valves are moderate stenosed and leaking and atrium is seveely dilated so I know we face surgery in the future but on-going shunt issues have required many surgeries and frankly I have no desire to have my chest cracked open. Even having my neurosurgeon fiddling around inside my brain and fiddling with + repairing my spinal nerves doesnt make me blanche like the thought of a cracked chest. At one point 4 or 5 years ago Dr.E and I had went to a ACHA Lobby day in DC and I also have done cont'd advoccy work as a Patient rep for the Pharma co that makes my weekly infuson drug speaking at their facility in Boston several times as well as managing projects together geared to identifying the un-met needs of Adult with MPS I. I also do Pain advocacy work with the American Pain Found and through this travel to meetings, work directly with hospital pain depts, and with patients experiencing chronic pain who are looking for help in getting proper care. For more info about myself I do blog at the website below: Erica www.rarelydefined.blogspot.com

World Rare Disease Day 2/29

http://www.facebook.com/#!/globalgenesproject Adult Congenital Heart Disorders as a combined whole are not all that rare but taken separately the ACHD's comprise a group of rare defects, syndromes and disorders. The Global Genes Project works to raise awareness of rare disorders and help families with un-diagnosed underlying issues get successful care. Less than 5% of all rare disorders have a treatment and while most ACHD's can be fixed or managed this does not take away from the fact that this community of people experience alot of turmoil, grief and upheaval while trying to get answers to what is causing their symptoms. Adults with Congenital heart defects or congenital syndromes which cause heart defects are a growing population that require specialize care and better treatments, better knowledge and further expertise by a population of doctors (cardiologists) that often have very little knowledge of congenital cardiac issues. Most 'general' adult cardiologists have little knowledge of the differences in these disorders versus cardiac disease in the general population who experience cardiac disease as they age. The Global Genes Project asks that all with any form of rare disease stand up, wear your 'genes' (jeans) with pride and spread the message that combined rare disease makes up a larger population than all forms of Cancers and AIDS combined - The rare disease community is 350 million strong. To receive ACHD-WI notifications please sign up as a 'follower' or for email notifications (or both) to the right of this post. If you have concerns about your care or about symptoms you may be experiencing please talk with your provider(s). Happy 'Genes' Day, Everyone! http://www.globalgenesproject.org/

Here we go!

On today's date, I am starting a blog for WI-ACHD!!!!  Let's just be honest, I don't know yet how to create a blog, but I will figure it out!!!