Name: Richard Lamphier
Location: Atlanta, GA  
Occupation: Program Manager Project S.A.V.E of Children’s Healthcare of Atlanta, an affiliate of Project ADAM

Why were you drawn to nursing as a career? 
I had a good friend who passed away. While he was in the hospital, he had 2 male nurses who encouraged me to be a nurse in his honor.

How long have you’ve been in nursing?
35 years. I joined Project S.A.V.E 6 years ago. Before that I worked in hospital cardiac ICU and cath lab.

What first got you interested in cardiac issues and prevention of sudden cardiac death?   
I had a team mate in high school who had a SCA. My coach did CPR on him and I will never forget the desperate look in his face when he was doing CPR. I want to try to make sure no one else has to go through that feeling of helplessness.

What are some of your recent projects and accomplishments?   
We recently passed the Sudden Cardiac Arrest Prevention Act in Georgia – Jeremy Nelson and Nick Blakely Sudden Cardiac Arrest Prevention Act (SB 60).  I’m a member of the Georgia High School Association’s (GHSA) Sports Medicine Advisory Committee. GHSA mandated that all high school coaches in Georgia are required to have CPR/AED training at least every 2 years. We have between 15,000-18,000 coaches in Georgia. The law went into effect July 1, 2019. I’ve been busy training coaches.

Can you tell us about a time when you were personally involved in a life saved?
Outside a hospital- one time in 35 years. It occurred at a health & wellness expo where Project S.A.V.E. had a table. Someone came to table and said “We need your help!” There was a toddler with complex medical condition and had no pulse, and had stopped breathing. I started CPR, with another nurse for 1- 2 minutes (with what seemed like hours!) and then I felt the child’s heart beat return under my hands.

Is there anything you are looking forward to? 
I’m looking forward to helping host the 2019 International SADS Foundation Conference in Atlanta. I’m also looking forward to the impact mandating CPR/AED training for coaches will have.

Is there anything you would like to say to fellow nurses about attending the SADS Conference in Atlanta? 
Some of these conditions are so rare in our pediatric population that it’s a great opportunity to learn about them. It’s important to recognize a SADS condition. Also a great opportunity to interact with patients and families to better understand what can be done in your schools and community. In addition to the healthcare provider program, the Family Conference will have continuing education hours for nurses.

What activities do you enjoy in your free time? 
Atlanta has some great things to do. I’m kind of a foodie. Atlanta has some great restaurants. I enjoy going to local sporting events, Atlanta Botanical Garden , and exploring all of what Georgia has to offer. We have the North Georgia Mountains with over 1,000 mapped waterfalls and the beaches of Southeast Georgia.  

What advice would you give to someone who is interested in getting involved with cardiac advocacy efforts to make their community safer? 
I think the best way to start getting involved with cardiac advocacy is to demonstrate the behavior you want to see in others. My wife and I both have AEDs in our cars, we donate AEDs to the community we live in and teach a lot of CPR/AED. We have a son-Deacon, 6- who knows the basic CPR steps: to call 9-1-1 and get an AED.

From here, I would recommend connecting with likeminded people, who are interested in advancing the awareness of cardiac issues. You could join us at www.choa.org/projectsave  for more information.

I think another great place to connect with is your state nursing association. I am currently the President of the Georgia Nurses Association.  We are always looking for speakers and causes for our members to get behind. I have a goal that all 140,000 nurses in Georgia would teach 5-10 people CPR/AED every year. That would be another ½ to 1 million people ready to respond in a cardiac emergency.

Another suggestion is to get to know your local elected officials- Mayor, city council person, school board member, State Senator and State Representative. Meet with them; let them know you are the content expert when it comes to cardiac issues, including awareness and preparedness.

March is Brain Injury Awareness Month.
Brain injuries can result from many causes.  One of these causes is anoxia (lack of oxygen) as a result of a SCA.   
As many as 18% of those who survive an out of hospital SCA have a moderate to severe brain injury.  
For someone who is diagnosed with a SADS condition after surviving a SCA, they are not only adjusting to a new cardiac diagnosis and treatment, but often are dealing with the effects of the SCA itself.  

SADS staff had the opportunity to interview Rebecca Hernandez, whose husband Eddie is affected by Brugada Syndrome and is recovering from a SCA and a resulting anoxic brain injury.   

Can you tell us how you found out that Eddie has Brugada Syndrome?

I had never heard of Brugada Syndrome prior to Eddie’s SCA.  He had what I guess you could describe as a syncope episode a few years ago after taking a Zyrtec. I rushed him to an urgent care where we were told he probably just suffered an allergic reaction. We were also told his EKG showed RBBB (right bundle branch block). The doctor told us it was normal and to follow up with a PCP and that was it.

Fast forward to a year ago, I was being told on day 2 after his SCA that he most likely suffered cardiac arrest multiple times due to a rare genetic disorder called Brugada Syndrome. I threw myself into researching the diagnosis the day I was told this was the culprit. Week 5 after his SCA, the doctors were able to verify that in fact he did have Brugada Syndrome. There are a few ways to verify this theory, but the doctors were certain this was his diagnosis after ruling out other electrical heart disorders.

What have been some of the biggest challenges your family has faced?   

The biggest challenge in the beginning was not knowing what type of recovery he was going to make. From the get go, I was told because he had sustained anoxic brain injury due to the cardiac arrest, he most likely would not have a good outcome. I was told on the 2nd day that I would be lucky if he remembered my name. It was also challenging getting over the fear of this happening again, wondering if our daughter carried this Brugada gene mutation, and all the unknown that’s circled around his diagnosis.

Every day was a constant battle of trying to get doctors to take Eddie seriously and not just write him off. That’s the sad thing about anoxic brain injury patients. Doctors are quick to write them off and give little to no hope to their families because there is little legitimate research that says these patients can recover.

About 6 months after Eddie was in the hospital, we were able to move forward with genetic testing for our daughter. Her cardiologist had Eddie do a saliva test to narrow down which exact gene was effected. With his results, we were then able to test our daughter via a blood test. Approximately 6 weeks later, the results confirmed she too has Brugada. Her ECG looks normal- but then again so did Eddie’s except when he was very ill in the hospital.

It is scary wondering about all the “what ifs?” when it comes to your child. It was absolutely devastating to know this is something she has. But, we believe knowledge is power and now she is able to be monitored.

Now that Eddie is home and has made an amazing recovery, the biggest challenge we face is what does our future look like. We are still trying to figure this one out day by day. He was left with several deficits that will forever affect his ability to work and navigate this world without a little help. But we are hopeful things will continue to get better.  

What have been some of the positives in this journey your family is going through?   

This journey has helped me to adopt this attitude of always finding the silver linings in life. Especially when you are thrown into a crappy situation. You almost have to in order to progress in the right direction. This situation has taught us valuable life lessons at such a young age. Each day is a blessing and we always try to make the best of things.

Through this journey we have been fortunate to meet some amazing people. Our tribe. They’ve loved on us and supported us which has really helped us to stay strong. I have also found that by sharing our story and helping others advocate or navigate this journey, it really gives me and Eddie a sense of purpose. We hope to inspire families and married couples by sharing our experiences.

But most of all, it’s made our little family of 3 incredibly strong. And that in and of itself is the biggest blessing.

You have shared your family’s story on social media (and now on our blog).  Can you share what has motivated your family to share your story? 

I’m a part of some pretty amazing support groups through Facebook. These groups and these people have really helped push me to be the best advocate I can be. I found myself staying up late at night skimming the boards answering questions and reaching out to other moms thrown into this journey via PM. And then when Eddie came home, I would read to him other people’s stories which gave him so much hope.

We decided we would like to start our Facebook page, Anoxic Brain Injury: through love and faith not only to share his journey, but to reach other people looking for support. We love sharing our story individually and as a married couple. We hope to inspire others not only that recovery is possible but that marriages can work after these type of injuries if only you are able to put in the work.

As a survivor of SCA myself, I know it is not just the survivor who is affected but also the entire family.  Can you share what sources of support have been helpful to you as a caregiver?  

Yes, so as I mentioned before, my Facebook support groups really were my greatest resource. There are also pages like the BIAA,  Brugada Drugs, and SADS that also provided me with a lot of great information. The information and knowledge is out there, we just have to go looking for it.  I know this can be hard when you are thrown into this journey. But it’s so important to utilize resources and find the right information to ensure your loved one is getting the best care possible.  

Is there anything that Eddie would like to share with us?  

Eddie would like to say that recovery is possible. He likes to say that “even though life may throw you a turd sandwich, you have to slap some jelly on it and make the best of it”. He also appreciates the support and resources SADS provides to families.

Would you like to share your family’s experience with a SADS condition?  
Please see our Guidelines For Writers and contact us at SADSblog@sads.org. 

February 28th is Rare Disease Day.
The main objective is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

While all SADS conditions are considered rare diseases, we want to focus on Timothy Syndrome and the rare disease advocacy efforts of one of our SADS families.      

SADS staff had the opportunity to interview Courtney Waller, whose daughter lives with  Timothy Syndrome, about her experience with rare disease advocacy.

Can you tell us about Timothy Syndrome and how it has affected your family?   

Timothy Syndrome completely turned our family upside down in the beginning.  We knew before her arrival that Theodora had Long QT Syndrome, thanks to a research study at UW Madison.  We would not know it was one of the rarest forms until she was born with the hallmark syndactyly. It was very hard and super upsetting for all of us to know that the prognosis was much worse than for other types of Long QT Syndrome, so there was definitely a grieving process we went through as a family.  
But, as she has grown, we have all adjusted.  The biggest effect I have seen is how we have all, in an effort to keep Theodora as safe and healthy as possible, even the younger of her older siblings make better lifestyle choices, and help her to do the same.
And we have definitely become closer as a family.

You started as an advocate for your daughter then became an advocate for Timothy Syndrome and rare diseases.  Can you tell us how that happened?

I have always been an activist, since I was a young kid.  As I got older and started a family it sort of fell by the wayside.  When Theodora was born, there was not a lot of information on Timothy Syndrome, no cure and no real ongoing research.   I guess, I felt I had to do something to help her…so I returned to my roots. I remember doing a simple Google search for rare disease support groups and found RDLA, an organization that works on legislation specific to the rare disease community.  It just happened they were having a conference in DC the following month. I bought a plane ticket and began my journey as a rare disease advocate.

I know that a painting of Theodora was featured in an art exhibit. Can you tell us a little about that and how your family got involved?  

I actually met Patricia Weltin at the RDLA conference that first year.  She is the president of the nonprofit and mastermind behind Beyond the Diagnosis.  A few weeks after DC, she called and asked if I wanted Theodora involved. The beauty of this exhibit is not just the children themselves, all of whom have a rare disease.  It isn’t even the idea of painting portraits of them, or that Patricia has the goal of one day having portraits of all 7000 rare diseases.  It is that this project has brought patients, artists, researchers and doctors from all over the world together in a super unique and visually amazing way.  If you had told me when Theodora was first born that I would see her portrait and hear the words and a description of Timothy Syndrome on CBS Sunday Morning, I never would have believed it.  This exhibit made that happen. So far, Theodora’s portrait by artist Jennifer Cahoon has been to the NIH, FDA, Feinstein School of Medicine, University of Alabama and Mayo Clinic in conjunction with the Smithsonian Human Genome exhibit, just to name a few.

What other rare disease advocacy efforts have you been involved with?

The first few years I worked at the federal level.  However, for the past two years I have worked almost exclusively at the state level.  
This includes trying to build a rare disease caucus at the state level which can help guide legislation that is good for our community.
On a more social side, we are building a community and planning events in 2019 and beyond for all of us here in Wisconsin who are affected by rare diseases to get together.

Do you have any advice for patients or caregivers who want to get more involved in rare disease advocacy?    

The absolute best thing you can do, and where I have seen a lot of advocates get discouraged, is to know your legislature beforehand.  Most advocates are told that their story is THE most important thing they have and the way to get results. And it IS important. It is the reason we do what we do, and it can change hearts and minds.  But, you can tailor your story to the thing your legislator cares the most about, (what did they run on? Are they a finance guy? Business leader? Former social worker?) and get better results because you are speaking directly to what is important to them.  Never get rid of your story….just tailor your speech in a way that directly impacts the person you want to help you make the change you seek.

If you would like to donate to TSA or the SADS Foundation in Theodora’s honor, you can do so here.   

          

In the summer of 2009, I was a recent graduate from art school, a waitress in a pub, and an intern at a museum. Life was full of promise and possibility and the usual anxieties associated with being a young person trying to find their place in this world. Where would life take me?

Then one morning, instead of waking up, I had a sudden cardiac arrest (SCA) due to previously undiagnosed Long QT Syndrome. My entire life changed.

One of the first resources for information and support my family was directed to was the SADS Foundation. My family, see. Not me. I wasn’t capable of very much at all for a very long time.

As I recovered, I sought out information and a community of people with similar situations. I dived into the world of online patient communities and advocacy. As the years passed, I got more and more immersed in this world.  

With every opportunity to have a voice or make a contribution as a patient, I have felt humbled and honored and sometimes frustrated, because it is such a rare thing for patients to be invited into the conversations about healthcare.    

In the 9 years since my SCA, I have made lots of connections and worked with many organizations, but the one closest to my heart (pun definitely intended) is the SADS Foundation.

It is with great honor and humility that I have accepted a position as the communications and engagement coordinator.

I am excited about many things and look forward to helping SADS with ongoing efforts to increase support of families, create more resources, make the annual SADS Conference even better, etc. But above all, I am excited about providing a stage where the hardest, most important stories can be told.    

Sharing my story has been a transformative and empowering experience. Now it is time for me to take a seat, and help YOUR voices to be heard.  

The support and encouragement of the SADS community has been an essential part of preparing me for taking on this role. Words can’t express my gratitude to the all the individuals, communities, and organizations that have helped me get here.

I hope my new position will provide me the opportunity to give back to all of you that have been with me on this long and sometimes challenging journey.    

Now off to refill my coffee and get back to work!

Best,

Communications and Engagement Coordinator, SADS Foundation
jasmine@sads.org

When you don’t have any known health conditions or allergies, finding an over-the-counter (OTC) medication to treat a minor illness is fairly simple. You can go to a pharmacy, scan the aisles until you find the right section, and grab a box that lists all the symptoms it is intended to help with.  Allergies? Grab something from the allergy section. Cold? Grab something from the cold medication section. Indigestion? Diarrhea? Heartburn? Grab something from whatever-they-call-that section. You may look at ingredients and what they are intended for. You may look for words like “non-drowsy” or “quick relief.” You may select one that a friend or coworker swears by. You may gravitate towards what is on sale, if you are budget conscious.

When you have LQTS, that changes. You have to be far more cautious with medications than the average person.  
There are currently 237 medications to avoid/use caution with if you have congenital LQTS. Yes. 237. That is a lot.  Some are OTC meds, intended to treat minor illnesses like colds, heartburn, allergies, etc. When I tell people that, they often react with “whoa! So you can’t take anything?????” Well, no. I can safely take lots of things. I just have to be careful about checking to make sure meds are safe for LQTS.

How to do that is a skill you acquire.
You read the information on the SADS website: Drugs to Avoid
You become skilled at reading labels.  Here’s a good resource for that, if you need to brush up: OTC Drug Facts Label (FDA)
It becomes instinctual to grab your phone and look ingredients up on the CredibleMeds website or app.
“Is that safe for LQTS?” becomes a standard question you ask whenever a medical provider suggests any medication, whether prescribed or OTC.
You learn to double check yourself when they say it’s safe because mistakes do happen and not all providers are knowledgeable on LQTS.
You learn to be skeptical of herbal/homeopathic/natural treatments that aren’t regulated in the same way, and to not just automatically assume they are safe.
You learn to check interactions with your beta blocker or other medications you might take.
You sign up for email updates from CredibleMeds and the SADS Foundation, so you will be informed of updates and new meds added to the list.
Along the way, you increase your health literacy and become a better advocate for you and your family.     

When you or someone in your family is first diagnosed with LQTS, finding safe OTC medication options for minor illnesses sounds like a MAJOR challenge. Once you have lived with this diagnosis for a while, it becomes business as usual.  It’s still a challenge, but you learn to deal with it.   

I asked several experienced LQTS families to share their approach to determining if an OTC medication is okay to take.

Here are their answers:

“When I or my kids need any OTC meds, I look at what symptoms I’m actually trying to treat and pick out a few different medications that treat those symptoms. Then I compare the ingredients listed for each medication to the CredibleMeds list. I also look to see why an ingredient is on the CredibleMeds list since some are “conditional”(for instance, if electrolytes are not balanced or if more than recommended is used). Then if one medication doesn’t have any ingredients on CredibleMeds then I choose that one. If there are not any medications without an ingredient on CredibleMeds, I fall back to why an ingredient is on CredibleMeds. Anytime I’m in doubt about picking a medication, I speak to a pharmacist.”
~H

When I was first diagnosed with LQTS, my family found the stories on the C.A.R.E Foundation website.  One in particular- “How to live to be 102 with Long QT”- made an impact on me and my family.  Reading a story of someone who lived a long full life with this diagnosis was exactly the message we needed at that moment in time.

At some point, I wrote down my story.   I thought it could perhaps help someone else, the way that story of living to 102 with LQTS had helped me.

As I began sharing my story, my mom asked me “Are you sure you want this to be such a big part of your life?”  She wasn’t discouraging it, just making me think as mothers do.
I replied simply: “This is a part of my life.  I can’t change that.  If it helps one person, it’s worth it.”

So I shared my story, on the C.A.R.E website and in patient communities on Facebook.
“I’m planning on living to 107” became my catchphrase.

Why 107?  I can’t say for sure, but I think it was because I’d read that story of a woman who lived to 102 with Long QT.  I had short term memory loss, getting much better by this point, but still a little off.   So 107 it was.

I later connected  with the woman who wrote that story.  She had posted in a LQTS group on Facebook about her grandma who lived to be 102, and I realized “that’s who wrote that story!”  I told her why I said I was going to live to be 107.   We decided her grandma wouldn’t have minded that I remembered wrong.

The C.A.R.E Foundation no longer exists, but my story is now on the SADS website: Upon Waking

All these years later, I can honestly say that I’ve never regretted being public with my patient story (and I’ve been pretty darn public).
Sometimes I forget why I felt such a need to share my experience.   Other times I remember.

One day last month, I remembered.  I connected with a local family, a 9 year old girl who survived an out of hospital SCA and her mom.

When I said “if it helps one person, it’s worth it” to my mother all those years ago, a moment I don’t actually remember, I was right.
I have helped one person, over and over and over.  One person in particular, I helped over and over and over.
That person was me.  Hopefully, I helped a few others along the way.

Last month, as I hung upside down like a bat next to this amazing survivor girl,  I wasn’t sure who was most helped by this meeting.  Was it Sofia?   Was it her mom, Shawna?    Was it me?   Or was it all of us?

Does it matter?   Nah.
What mattered was this moment.
What mattered was that I woke up on this morning and took the train to meet Shawna and Sofia.
One morning, long ago, I didn’t wake up.
One day, not as long ago, Sofia ran playing tag and dropped to the grass.
This day, I woke up to a text from Shawna saying “Want to meet for lunch at 12:30?”
This day, I ran across the grass doing cartwheels with the amazing Sofia.
This day, there was no CPR or ambulances or helicopters or hypothermia comas.
This day, there was no waiting to see if we would survive neurologically intact.
This day, we were some people in a park, laughing and hanging upside down like bats.

Well, Shawna wasn’t.  Somebody had to take the picture. : )

This is Abrielle Watschke.

In 2014, she survived an out of hospital sudden cardiac arrest.
Today, she is thriving with Long QT Syndrome.

Read the Watschke family’s story here.

Donate to the 2017 No Ball at All Campaign in honor of this amazing girl here.

Are you a patient affected by a SADS Condition?
Are you a parent or sibling or other family member of someone affected by a SADS condition?
Are you a doctor, genetic counselor, researcher, or other professional who would like to help contribute to a resource for SADS families?
Are you an advocate for those with heart conditions?
Or ?

If so, we want to hear from you!  SADS Channel is looking for guest bloggers to write on a range of topics relevant to SADS conditions.

Please contact us at sadsblog@sads.org if you are interested in contributing to SADS Channel.
An announcement in the SADS Foundation e-newsletter in March had an incorrect email address, so if you had sent something to that email, our apologies!   Please forward it on to sadsblog@sads.org, and an administrator will be in touch shortly!

Sometimes normal life involves having coffee in a hospital after having an ICD pocket revision.   

I remember the day I got married.  It was hot and the tulle of my dress was scratchy against my legs.  Our vows said “until our days on this earth are over” rather than the traditional “until death do us part.”   Little did I know just how wise this choice of words would turn out to be.

In the months after our wedding, people would ask “how’s married life?” I never understood this question.  I usually replied “it’s like normal life, except I am married now.” Some people would laugh at this response.  Others would act as if I was being sarcastic and not answering the question.  I was though!  My entire life didn’t change when I got married.  Some things changed, sure.  But a lot remained the same.

Same could be said about life with Long QT Syndrome (LQTS).  It’s like normal life, except with LQTS.

I don’t remember the day I was diagnosed with Long QT Syndrome (or a very long time after).  I was 24 years old, and was in a hospital in my home state of Indiana.   I’m not actually sure if the diagnosis was made while I was in a hypothermic coma or after.  I was diagnosed with congenital LQTS after surviving an out of hospital sudden cardiac arrest (SCA).

How I was diagnosed is not the ideal way to be diagnosed, but it’s certainly not the worst.  I was incredibly lucky to have survived with the outcome I have had.  I had a recovery ahead, one that’s difficult to quantify.   I walked out of the hospital a week after after arriving by ambulance, was mostly OK by a few months after, and then continued to work out the kinks over the next few years.  I did not retain many memories from this period.   Nonetheless, I adjusted to life with an implantable cardioverter defibrillator (ICD).  I adjusted to life with a LQTS diagnosis.  I adjusted to this new slightly different version of me.

Today, I am a 32 year old who lives a normal life.   Well, as normal as life can be with a genetic heart rhythm condition and an ICD and a portion of my twenties absent from my memory.

In the 7 years since my diagnosis, I have had 2 ICD shocks.  One was appropriate (‘lifesaving’) and one was inappropriate (not ‘lifesaving’).   I have had genetic testing (positive for LQT2) and provided that information to family, so they could be tested.    I have had a complication of my ICD that caused me to be in pain and eventually prompted a premature replacement of the generator and a revision of the pocket in my chest.  I’ve had lots of medical appts.  These things aren’t exactly normal, I suppose.  Most of my peers don’t deal with these things.

I’ve tried to wear this patient hat with grace and style, and I’ve tried to make it as fun as possible.   I’ve been involved in advocacy efforts and learned everything I could about my new reality.  I’ve made some friends along the way.  I’ve attended conferences and taken road trips and ran a half marathon.  I found my tribe, my peers who DO deal with things like cardiology appts and ICD shocks and all these not quite normal things I have to deal with sometimes. This has been my silver lining.

I don’t know what my life would have been like if I didn’t have LQTS.   This alternate reality is not something I think about often.  I used to.  I used to imagine what it would be like to wake up one morning and find out this has all been a bad dream. Though perhaps wishing away this reality was wishing away the good stuff too.  And there has been a lot of good stuff in my life the last 7 years.

I was lucky.  My life went on.  It will likely keep going on for a very long time, now that I am diagnosed and properly treated.  When I think of my future, I imagine a whole lot of normal stuff with some of that not-so-normal-heart-patient stuff thrown in the mix.

After 13 years of marriage, now if someone asked me “how’s married life?” I’d probably think that was a strange question.   It’s just life.   No, it’s just a part of my life.   Thankfully I have learned more social graces in the last 13 years, so I would probably just smile and say “life is good.”

After 7 years of living with LQTS, my answer for life with LQTS would be the same.