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)