What the HHT?

A Voice for the HHT Community


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Playing the Medical Case Manager – How to Keep it all Organized

By Cassi Friday

babyDoes anyone else find it overwhelming to keep the appointments, medical offices, and treatments all straight? To remember the entire medical history, to have to explain HHT for the thousandth time, or to spend forever waiting on a hospital line to speak to someone? When you don’t have an actual medical case manager, you often take on that role yourself. I have been juggling four hospitals and several medical providers for our 1 year old daughter and it is exhausting!

To recap, Eleanor has HHT and she also has a congenital heart defect.

Here is the list of medical providers we have for our life with HHT:

  1. The OB/GYN staff at our military hospital who see and monitor me and baby during pregnancy (we are having another baby, hooray!!)
  2. The Maternal Fetal Medicine staff in Topeka who also see me and monitor baby during pregnancy to watch for HHT complications in utero.
  3. The cardiologist at University of Kansas (where Eleanor was delivered) who treats El’s heart defect.
  4. The genetic counselor at Children’s Mercy in Kansas City that coordinates genetic testing and is now working with us for this second pregnancy.
  5. The HHT Center team at St. Louis Children’s Hospital that screened Eleanor for AVMs and still helps with her care.
  6. The Pediatrician at our military hospital who does routine care for Eleanor and well-baby checks.

Wow! This list blows my mind when I write it all out – our kids are pretty special to get all this attention, huh? Not to mention the fact that we are a military family and the turnover rate of providers at our hospital is wild! I have seen a different OB/GYN or midwife at every appointment and Eleanor’s pediatrician just moved away! We also just found out a couple weeks ago that we will be moving across the country to the east coast in three months! Now, I have to find all new providers for me, Eleanor, and baby #2 and start this whole process again!

The goal of this blog post isn’t to complain about how hard it is to keep it all straight (Although, I have to complain a little – you all are the ones who get it!), but to share some of the tricks I have learned that help keep me sane…. Or kind of sane.

  • When dealing with multiple providers and locations, the best thing I have found to do is keep a copy of all the medical records for myself. I bring these to every appointment and I have them organized in a folder. The genetic test results, MRI results, growth charts, echocardiogram results, etc. are all available should the next provider need any of the information. This is so much easier than trying to call hospital X’s medical records department and have them fax or e-mail everything to hospital Y. As the staff checks us into the appointment, I hand over the folder (or pick out some relevant information, like the most recently added records), and ask them to copy it for Eleanor’s file and pass it along to her provider.

 

  • I also keep a couple copies of relevant HHT literature. As you have likely encountered, most providers are vaguely familiar with HHT, but don’t remember much about it. It saves them from having to dig through their textbooks and they get good, succinct information. Here are some examples of what I use (all of which can be found on the Cure HHT website under the Resources/Hot Topic Breakdown:
    • Children Need Screening Too – this article was actually written by the nurses who staff the HHT center at St. Louis Children’s and is a great summary of HHT, complications, and who needs what screening. I am blessed to have formed a relationship with Lynne and Lori, as they are my first call when I have a question about Eleanor’s care.

 

  • I get direct phone numbers to all the medical homes, clinics, and medical records offices! This is SO much easier than calling the hotline and pressing a million buttons only to be rerouted somewhere else. You may have to do this the first time, but once you get the clinic on the line, ask them for their direct number and put it in your phone. This has saved me so much time. For example, I had to give the cardiologist the number to the HHT clinic just yesterday so they could call for a consult. It is also useful to jot down fax numbers or addresses!
  • Don’t be afraid to ask for help!!! If there is something you need to relay to another provider, but you aren’t sure you understand it, ask the nurse to call and explain it for you! This will save everyone time and confusion in the end. When dealing with multiple providers, you definitely don’t want miscommunication.
  • Try to be patient. This one is hard. After all, you, your babies, or your loved ones have an uncommon genetic disease. You may be tired, you may be sick, you may be about to lose it! You don’t have time to explain HHT for the 100th time – you just need those darn antibiotics so you can get your teeth cleaned! It is important to remember that while your healthcare provider is very smart and skilled, they can’t and don’t know everything. They also have many other patients who are just as sick, just as tired, and just as important. Give them a little time to reorient themselves to your case, or look up the information necessary to give you the best care you deserve.
    • Currently, I am trying to coordinate with the cardiologist (who is trying to chat with the interventional cardiologist) and the HHT center providers (who are trying to chat with other cardiologists and surgeons) to decide when the best time will be to fix Eleanor’s heart. After her last cardiology appointment, we had to wait a week before the Dr. could speak with the interventional cardiologist to consult. Additionally, I called Lori at the HHT Center and she needed to talk with the Dr. who then needed to consult with surgeons there. This all takes time and it is so hard to wait when you just want a solution for your baby. But I promise, it is worth the wait to get the best medical opinions, for everyone to be informed, and for you or your loved one to get the best care.
  • On the flip side, don’t let yourself slip through the cracks. As stated, medical providers are busy! The burden placed on the healthcare system these days is pretty massive, so it is your job as a patient or parent to stay on the doctors so they don’t forget to put in that referral, call your other doctor, or fax a copy of your last MRI scan. Personally, I try to wait at least a week before following up unless they have told me it will take longer.

What are your tips and strategies to keep your lives in order? I definitely don’t have the perfect system, but these things help to organize us.

 


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Hosting our First Blood Drive for HHT Awareness!

By Cassi Friday

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She wanted to give blood by the end, but she didn’t meet the weight requirement 😉

Since marrying into an HHT family, I have felt a need to do more to advocate for my family members, raise awareness, and help in any way I can. I know how precious both money and blood can be to this community, but we are not always in a financial position to give to the foundation (although every little bit really does count!). I decided to reach out to the local Red Cross and my church to coordinate a blood drive. I’d like to talk about this process, how surprisingly easy it can be, and tell you how everything went on the big day!

 

  • Reaching out to your local American Red Cross representative
    • You can Google this, or look it up on the Red Cross website: redcrossblood.org
    • In my first e-mail, I told my rep, Kristi, about HHT and how I felt like I wanted to do more to help raise awareness. I offered my assistance to volunteer with local blood drives and asked her how I could learn to coordinate one of my own.
    • She was SO NICE! Y’all – seriously, reach out to your local Red Cross folks – even if you don’t want to host a blood drive, just get to know them as your friend. I have never met anyone in this business I haven’t liked. They truly have a heart and soul for service.
  • Bringing awareness through an ‘In Honor of’ blood drive
    • Kristi told me about a campus-wide blood drive happening where I work at Kansas State University. While this drive was already planned and ready to go, they wanted to feature HHT to help bring awareness to the disease and the potential need for blood in the community because of it.
    • If you aren’t ready to coordinate your own blood drive, you can certainly raise awareness about HHT by making an already scheduled blood drive in honor or in memory of someone.
    • I filled out a form talking about my family, the disease, and our experiences with blood donation in the past. My husband and daughter have yet to receive blood transfusions, but my mother-in-law has and her father was reliant on them during the last years of his life.
    • The Red Cross and the campus newspaper did a short interview and press release detailing HHT and the need for blood in the HHT community.
  • Coordinating your own drive
    • If you are ready to host and coordinate your own blood drive, I would suggest getting these things in line:
      • A location
      • A few potential dates
      • A few volunteers to help schedule appointments/make signs/send reminder e-mails and calls/help on the day of the drive
    • Once you have an idea of the above information, tell your Red Cross rep you are ready! They will let you know what dates work best for their schedule and they almost literally do the rest!
    • Once we settled on a day that worked well for the church, Kristi told me what time, how many appointments we would have, and what to do every step of the way.
    • We started with a small drive – 2 Red Cross workers and 21 appointment slots. The drive went from 9am to 3pm this last Sunday.
  • Advertising your blood drive
    • Since we were having our blood drive at church, I asked the pastors if I could speak about HHT and the reason behind this blood drive during church service. They were more than happy to oblige and I just gave a quick 2-3 minute synopsis of HHT and why giving blood is so important, especially to those with diseases like HHT.
    • Kristi had already given me a sign-up sheet and reminder cards for donors. I set up a table in our church’s gathering place to book appointments, and I had almost every appointment booked by the end of that same church day!
    • Kristi had also given me some table toppers with information about the drive, flyers, and contact information sheets. They literally take care of everything!
  • Preparing for the drive
    • A few days before the blood drive, I entered everyone’s information into the Red Cross system. Blood drive coordinators get their own login so you can access appointment times, schedule donors, and send e-mails. All the flyers, advertisements, and resources are also available on the site.
    • Everyone was sent an automatic reminder e-mail about their appointment.
    • I asked my church group to volunteer to make goody bags for the donors. (Since this was a small drive specifically to raise awareness about HHT, I wanted to hand out some HHT information and some treats to donors as a thank you.)
  • Blood drive day
    • I arrived at the church at the same time as the Red Cross staff to help see them into the building.
    • They have everything so organized – the only thing I did was move around some chairs! They had their own tables, music, fans, water, food, and of course all the donation supplies.
    • I stayed at the drive to greet donors as they came in, to guide them to the sign-in sheet, and then I just chatted with them as they waited for their appointment! My job was by far the easiest!
    • At the end of the day, the staff packed everything up and went on their way! They were so nice and made every donor feel special and well taken care of.

Our first blood drive was a success and we met our blood donation goal! It really was surprisingly easy to coordinate and everything went really well! The Red Cross did 90% of the work, I really just found a venue and advertised it. I can’t wait to host another this fall! We are hoping to make this happen at our church every two months. This way, regular donors can continue to come back when they are eligible to give (after 56 days for a whole blood donation). If anyone has any questions about this process, let me know or reach out to your local Red Cross people!

 


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HHT Global Awareness Day

Today is June 23, 2017 and it’s HHT Global Awareness Day! As a person who has HHT disease and the author of a new book called Living with HHT, I’m excited to be part of this special day devoted to HHT awareness—and I hope my book will contribute to HHT awareness every day.  If you’re like most people, you’re probably asking, what in the world is HHT? That’s because most people, including most doctors, have never heard of HHT. In fact, most people who have HHT don’t know that they have it! Which is precisely why awareness is critical to identifying and treating people who have this uncommon, but not-so-rare disease.

So what is it? HHT (Hereditary Hemorrhagic Telangiectasia) is a genetic blood vessel disorder, affecting approximately 1 in 5000 people, or 1.4 million people worldwide. HHT occurs in all ethnic and racial groups, and affects both men and women. If someone has HHT, each of their children has a 50% chance of inheriting the disease, which is caused by a mutation in one of several genes involved in blood vessel development. HHT results in some malformed blood vessels in which there is a direct connection between an artery and a vein, and normal capillaries (the smallest blood vessels) are missing. These abnormal blood vessels (called telangiectasias or arteriovenous malformations (AVMs)) can occur in the nose, gastrointestinal tract (gut), on the skin, or in the lungs, brain, or liver.

Nosebleeds are the most common and visible symptom of HHT, affecting about 95% of people with the disorder. Bleeding from the nose or from the gut can cause iron deficiency and anemia, sometimes requiring blood transfusions. AVMs in the liver rarely cause problems, but in some people, result in liver or heart failure. AVMs in the lungs and brain are invisible and often cause no symptoms, but can lead to sudden, devastating medical events, including brain or lung hemorrhage (bleeding), stroke and brain abscess. People who don’t know they have HHT or have not been screened for AVMs are vulnerable to these tragic events. Yet with proper diagnosis and treatment, almost all of these medical events can be prevented. HHT awareness can prevent serious disability and even save peoples’ lives.

How I become AWARE of HHT: Although I’ve had daily nosebleeds for most of my life, I wasn’t diagnosed with HHT until my mid-30s, after becoming severely anemic from chronic blood loss. My doctor suspected HHT but knew little about it. But I called the HHT Foundation (now Cure HHT) and they referred me to the Yale HHT Center of Excellence (there are now 25 of these HHT specialty care centers in North America and more around the world) where my diagnosis was confirmed and I was treated for my lung AVM.  I was fortunate to get my diagnosis and get screened for AVMs (I had one in my lungs that needed treatment) before having any disabling medical events. Treatment for my lung AVM reduced my chance of a stroke, and iron pills improved my anemia and restored my energy. My mother, who was completely without symptoms at the time of my diagnosis, was screened for HHT because she had a few nosebleeds as a young adult, and the finding of small AVMs in her lungs confirmed her diagnosis. My children were also screened and one had laser treatment for nosebleeds. There is now a genetic test for HHT, making diagnosis much easier.

In 2002, when I attended my first HHT Foundation Patient and Family conference, I met other patients who were not as fortunate as I was; some had strokes or brain abscesses before they were diagnosed with HHT. After learning that many people with HHT around the world were suffering preventable medical complications due to lack of proper diagnosis, I was prompted to become a volunteer with the HHT Foundation. Over the past 15 years, I’ve participated in walks, runs, and other local fundraising and awareness events, co-led a regional support and education group for HHT patients, and been a legislative advocate during Capitol Hill Days. Currently, I’m a volunteer member of the Cure HHT Board of Directors.

Why I wrote a book about HHT: In my professional life as a rehabilitation psychologist, I’ve specialized in helping people live better lives with chronic illness and disability. I’ve co-authored several Johns Hopkins Press Health Books about the medical, emotional and social aspects of various disabilities.  I saw a unique opportunity to combine my professional expertise and my personal experience with HHT to help other patients. Several years ago, I began presenting lectures and small group discussions at HHT Patient and Family Conferences on the emotional and family impact of HHT. I also wrote some HHT fact sheets and created a webinar on managing the psychosocial aspects of HHT.

After years of interacting with people who have HHT,  I’ve learned that many patients—even after going to HHT conferences or specialized treatment centers—don’t fully understand what HHT is all about or how to take care of themselves and their families.  Families have a difficult time talking about HHT and understanding that if one person is diagnosed with HHT, multiple family members may be at risk. There’s a lot of denial and resistance to getting screened and treated, even in families who’ve already had tragic medical events. What’s more, the emotional effects of HHT, including sadness, anxiety, grief, stress and relationship problems have an impact on quality of life for most people with HHT, but there’s little professional guidance on how to manage them.

So I decided to write a book about HHT explaining the complex medical aspects of the disease in every day, non-medical language and addressing the emotional and family issues associated with HHT. The book is for people who have HHT (or think they might have it), for their families, and for health care providers who want to learn about HHT diagnosis, treatment and research.

I hope that Living with HHT: Understanding and Managing Your Hereditary Hemorrhagic Telangiectasia, will raise your awareness about HHT. Perhaps it will help you identify a friend or coworker who has HHT. If you’ve been diagnosed with HHT, I hope the book will teach you everything you need to know to manage and cope with your disease, get proper treatment, care for your family and live the healthiest life possible.

Happy HHT Global Awareness Day!

For more information on HHT, visit www.curehht.org

 

Sara Palmer, PhD, is a psychologist and an assistant professor in the Department of Physical Medicine and Rehabilitation at Johns Hopkins University School of Medicine. She is the coauthor of Spinal Cord Injury: A Guide for LivingWhen Your Spouse Has a Stroke: Caring for Your Partner, Yourself, and Your Relationship; and Just One of the Kids: Raising a Resilient Family When One of Your Children Has a Physical Disability. Her latest book, Living with HHT: Understanding and Managing Your Hereditary Hemorrhagic Telangiectasia, comes out this December.


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Eleanor goes to the dentist with her prophylactic antibiotics!

By Cassi Friday

Eleanor at DentistAs a child, I LOVED going to the dentist. I hope by starting Eleanor out young, I can instill an excitement about dental health in her to avoid any fears/anxieties about the dentist in the future.

Going to the dentist with HHT can add a bit of complexity. If you have or don’t know if you have pulmonary AVMs, you should always take an antibiotic before dental procedures. In this post, I’d like to talk about why this is very important, and how it can literally save your life!

The Pulmonary Arteriovenous Malformation (PAVM)

As a reminder, a PAVM is an abnormal connection between an artery and a vein. In normal instances, arteries connect to capillary beds and then connect to veins. The arteries carry oxygen-rich blood to organs and tissues through the capillaries. The low-oxygen blood then returns to the heart and lungs via veins. In the PAVM, the artery is connected to the vein, bypassing the capillaries. Continue reading


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It’s All About Balance

By Tania Competiello 

Tania Competiello ProfileThis month, I’m spreading positivity! Focusing on me, and you, and how we should be taking better care of our overall well-being. Remember, you may have HHT, but HHT does not have you – it does not define you and all you aspire to be!

I’ll be the first to admit some days are easier than others, some days are harder than others. Then there are the days that seem as if nothing is going right, everything is going wrong and you don’t feel like fighting HHT, not today. Yet, you get up, you fight, you push with everything you have, and you survive because you are an HHT warrior!

Ask yourself…

What have you done lately to take care of you? Are you sleeping enough? Are you trying to eat healthier? Are you doing your best to exercise your body and mind as often as possible? Are you doing the things that make you happy? Are you spending time with your family? Are you appreciating every sweet moment you have with your little ones? Continue reading


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Blissfully Ignorant or Hyper-aware?

By Cassi Friday

OstrichDoes anyone else teeter between these two states of mind? My husband and I often discuss which is better – As the person with HHT, he would rather be more on the blissfully ignorant side. His symptoms are not very severe (no AVMs we know of, but a lot of nosebleeds), and his family rarely discusses their medical issues, if at all. As long as he is managing his own condition, he doesn’t like to read or hear about case studies, other people’s ailments or think about what-ifs.

I, on the other hand, want to know it all! Whether it’s about HHT, which affects him and our daughter, or about something going on with me personally.

My husband is plagued by the “ostrich effect.” That is, he would rather bury his head in the sand and go on with things. Whereas I am plagued with worry and compulsive research. Continue reading


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One of the Many Faces of HHT

By Tania Competiello

Tania and Sister at Conference

Tania and her sister at the Masquerade Dinner of the HHT Patient Family Conference.

I’ve recommitted to writing my monthly blog with a focus on HHT awareness, being newly diagnosed with HHT and ultimately living with HHT.  This month, I wanted to focus on the many faces of HHT, starting with my own.

HHT does not discriminate against race, age, gender, weight, ethnicity, nationality or any other characteristic known to human kind. It is nothing short of a terrible rare disease, with no cure, genetically passed down from generation to generation, often unknown and undiagnosed, or spontaneously born into a new generation unaware of its existence.

It often takes an awful incident to bring awareness to a family…the loss of a loved one for example. My family falls within this category. October 2015 we lost our beautiful, vibrant, loving Aunt to HHT at the young age of 47. For her, her HHT diagnosis came too late and it eventually led to PH (Pulmonary Hypertension), and her passing. Continue reading