Tryptasemia & Co-Morbidities

PXL 20210728 175148894PORTRAITVacationing-while-having-HATS (Hereditary alpha Tryptasemia syndrome) is not for the faint of heart. The pitfalls can cause a challenge both during the vacation and beyond. It might even tempt one to never leave home.

Perfect strangers have been roped into helping me through dysautonomia in an airport, getting me settled after a fall, helping us get to a hospital in a foreign country for an allergic reaction, etc.

However, I love to travel—so thankfully, we’ve picked up a tip or 20 through the years.

PXL 20210828 181707828Despite my lengthy set of physical challenges, every doctor I have agrees that I should exercise. Biking could be another source of injuries for me, were it not for my recumbent bike.

I have 4 genetic disorders that impact my ability to exercise like others: Hereditary Alpha Tryptasemia Syndrome (HATS, including a related symptom of positional orthostatic tachycardia syndrome, or POTS), Hypermobility Spectrum Disorder (formerly hEDS), Lipedema, and pacer-mediated Neurocardiogenic Syncope (NCS).

Years ago, I was truly excited to hear about the Levine studies & Protocol. Dr. Levine studied NASA astronauts returning to Earth, whose bodies had become accustomed to weightlessness. Dr. Levine recognized how beneficial his part of call could be for those with POTS.

PXL 20210828 175220342Recumbent biking was one component of that protocol. We quickly realized that new recumbent bikes were expensive for our budget. One weekend, we headed to thrift stores to locate one. The 1st store had one that was banged up. We struck out on the 2nd store. But the third had this fantastic Schwinn™️.

Up to this point, I have tended to bike simply using the low-tech tips provided within the bike's instrument panel ("Great job! Hill ahead. Drink some water."). But lately, my Facebook feed & Roku have been inundated with ads for Peloton™️. This made me wonder: What would it be like, biking along with the coach?

PXL 20210828 1755111132Today, I tested it out, using a free video on YouTube, rather than watching a TV show like I normally do while riding. I was very impressed--in 30 minutes, I usually bike 2-3 MI. Today, my ride was nearly 5 MI. And I felt roughly similar afterwards.

I'm looking forward to finding various free/sample bike & spin classes and testing them out. It might be fun to have 31--a different one for each day of the month.

The following is a range of studies that have been beneficial for our families' Hereditary Alpha Tryptasemia Syndrome (HATS), co-morbidities, and other possible hereditary disorders.

2021, July

Big news for HATS, an ICD-10 code

2021, Spring/Summer

"Karen Smith-Will, C, owns a consulting company that has gotten 10,000 hits on its website tryptasemia.com and tryptasemia.org. 'This website helps patients with Hereditary Alpha Tryptasemia syndrome hats to find the resources they need, especially human connections via stories," she said. 'About 1% of people with Caucasian genes have the disorder, so HαTs is not particularly rare. However, fewer than a thousand people in the world have been diagnosed because this genetic disorder has only been identified since 2015. Karen and several of her extended family members were diagnosed in 2018.'"

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University of Richmond Magazine, Spring/Summer, 2021, p. 66.

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June 4, 2021

June is Lipedema Awareness month. On June 1, I recorded a video for Lipooedema Friends International--not about the disease, but about something that brings me joy in life, writing. Now, I'll share a few things that are challenging about lipedema.

  • Today, as for many days, I woke up with significant lower back pain. Lipedema fat is painful fat. 
  • I get tired more easily than I feel like I ought to. Of course, my dysautonomia causes that, too. And if you look at the side effects of my medications, you'll see that quite a few of them have drowsiness listed.

Screenshot 20210301 120559March 7, 2021

Yesterday was World Lymphedema Day. And March is Lymphedema Awareness Month. Our first exposure to lipedema came at The Mastocytosis Society's 2019 Annual Conference. I've had a friend with lymphedema (also spelled lymphoedema), secondary to cancer, for more than a decade, but I had no idea I could be experiencing the same thing. 

 
A few points from that and other conferences:
  • Lipedema is a lymphatic disorder, at times hereditary
  • It tends to be bilateral, whereas lymphedema is often unilateral if it is caused by damage to one set of lymph nodes
  • Lipedema, if untreated, can progress into lymphedema
  • Lipedema is at times a comorbidity to mast cell disorders, such as Mastocytosis, Mast Cell Activation Syndrome and Hereditary Alpha Tryptasemia Syndrome (HATS). It is unknown how they are correlated.
Lipedema causes me daily pain, despite medication. It also takes up an hour of each day, while I use a machine for lymphatic decongestion. I also practice swimming, recumbent biking, rebounding on a mini-trampoline, and wearing graduated compression.
 
Two Facebook groups I've enjoyed are

Today the doctor who applied for the ICD-10 code announced that is it that it is official!

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Valutivity LLC is celebrating our 4th #RareDiseaseDay2021 virtually "at" the NIH on Monday, 3/1/2021. Last year, I attended #RDDNIH in person at the National Institutes of Health (NIH), met with my doctor at Building 10, and performed piano/vocal concerts at the NIH's Safra Lodge (for adult patients) and their Children's Inn. These events were very memorable, given their proximity to all of the COVID-19 closings.

We had rolled out Tryptasemia.com / Tryptasemia.org in preparation for #RareDiseaseDay2020. In the 12 months since then, we've amassed over 12,600 hits!

IMG 20200924 2100542Florida has it all... fabulous beaches, fun cities, copious freshwater rivers & streams...and mosquitoes. So when articles about rendering mosquitoes sterile appear, that may seem like a perfect solution. Those of us with Hereditary Alpha Tryptasemia syndrome (HATS), are particularly susceptible to insect bites, especially if they come from mosquitoes carrying Dengue Fever. But there are long-term ecological impacts to fragile ecosystems that must be considered, as well.

Screenshot 20210209 121224With a title like this, one might expect entries like chapeau, fez or fedora. ;) Hereditary Alpha Tryptasemia Syndrome (HATS) encompasses quite a few terms not fully familiar to us, from the genetic and medical domains. Let us know if there are others we should add. 

These are stories from individuals who have been confirmed to have Hereditary Alpha Tryptasemia Syndrome, or HATS. If you are confirmed to have HATS and interested to share your story, please send a message on Contact Us.

Hereditary Alpha Typtasemia Syndrome (HATS), as a published disorder, is in its infancy. No longitudinal, double-blind studies have been completed targeting treatments for HATS. In the meantime, treatments are generally borrowed from those used with Systematic Mastocytosis or other Mast Cell disorders.

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