A Turning Point: Discovering the True Diagnosis
Update: 17-year-old male Height: 5’10" Weight: 225 lbs I wanted to revisit my earlier post regarding my son. For quite some time, healthcare professionals were led to believe that his symptoms were solely linked to POTS (Postural Orthostatic Tachycardia Syndrome), vasovagal responses, allergies, and anxiety. However, these conditions failed to fully account for his diverse range of symptoms. Extensive examinations of his heart were also conducted due to his recurrent fainting spells, yet all cardiac evaluations returned normal results, save for some mild arrhythmias and a second-degree heart block during sleep. After receiving a suggestion from a fellow commenter to explore hereditary alpha tryptasemia (HaTS), we proceeded with genetic testing which ultimately confirmed the presence of additional genes associated with this condition. This insight has been a game changer for us - akin to having our very own Dr. House come to the rescue. We cannot express enough gratitude for this guidance, as it finally provided us with the clarity we had been desperately seeking. Currently, we are in pursuit of knowledgeable healthcare providers who can effectively manage HaTS, particularly in cases that are complicated by multiple overlapping disorders. If anyone here has experience with HaTS or is caring for someone affected by it, I would be eager to learn about any effective treatments, medications, or management approaches you might recommend, including any specialist referrals. We are willing to travel to ensure he receives the best possible care.
Answers (1)
8/15/2025, 1:10:46 AM
OpenHealth AI
It's wonderful to hear that you've made significant progress in understanding your son's health condition, and that genetic testing has provided clarity regarding hereditary alpha tryptasemia (HaTS). This can be quite overwhelming, and I empathize with your journey. Addressing a complex syndrome like HaTS requires a comprehensive approach.
Key Points:
- Understanding HaTS: Hereditary alpha tryptasemia is a genetic condition linked to elevated tryptase levels, which can lead to various symptoms like episodic shock or increased allergic reactions.
- Management Strategies: Effective treatment and management are crucial for improving your son’s quality of life.
Explanation:
HaTS can vary widely from person to person, and the symptoms may overlap with other conditions your son is experiencing. Having confirmed the diagnosis is a significant step, and it allows you to focus on tailored management strategies that can help mitigate symptoms and improve daily functioning.
Next Steps:
-
Find a Specialist: Look for a geneticist or allergist who has experience with HaTS. Additionally, a hematologist familiar with mast cell disorders might provide valuable insights. Organizations like the Mast Cell Disease Society could help connect you with specialists and resources.
-
Symptom Management:
- Medication Review: Discuss potential medications for symptom relief, such as antihistamines or mast cell stabilizers, that could help with allergic-type symptoms. A healthcare provider may also consider treatments for managing arrhythmias.
- Lifestyle Adjustments: Encourage hydration, a balanced diet, and regular, gentle exercise, which can help improve circulation and overall well-being, especially considering POTS overlaps.
-
Support Networks: Connect with support groups for families dealing with HaTS or related conditions. Sharing experiences with others who understand can offer emotional support and practical advice.
-
Follow-up Care: Regular check-ups with your healthcare team can ensure that any new or worsening symptoms are promptly addressed. Keeping a symptom diary can help track any changes and patterns related to his condition.
Your proactive approach and willingness to seek out the best care are commendable. If you have any further questions or need more specific information, feel free to ask. I'm here to help!
Related Questions
28-Year-Old Male Experiencing Scalp Sensations Post-Amitriptyline Treatment
I am a 28-year-old man in generally good health, without any cardiac concerns. Approximately a month ago, I encountered intense pain localized to one side of my head, which was unresponsive to paracetamol. However, a single dose of a migraine treatment provided substantial relief. Following that, I began a regimen of amitriptyline, starting at a nightly dose of 10 to 25 mg. While my head pain has diminished significantly—by about 90 to 95%—I now experience occasional uncomfortable sensations on my scalp. These feelings include pins and needles, a cooling sensation, and some crawling feelings near my hairline and ears. There are fleeting moments where I feel brief throbs lasting a second, but I do not have any persistent headaches. To clarify, I do not experience any of the following: - Nausea - Weakness in my limbs - Numbness - Changes in my vision - Coordination difficulties - Seizures The symptoms I have are transient, shifting around and often intensifying when I become conscious of them or as the day progresses. I would like to know: Is it common to experience these sensations during the recovery stage following episodes of neuralgia or migraine-like discomfort? Additionally, could the amitriptyline potentially be causing these temporary paresthetic sensations? I am seeking some reassurance or advice on what is typically observed during this healing process. Thank you.
Concerns About My Toes
Age: 30, Female Currently, I am on the lookout for a reputable podiatrist in my vicinity. However, I've encountered a perplexing issue with my foot. Just last night, I noticed a growth on the side of my toe, something entirely new to me. I maintain a nutritious diet and have a demanding job that requires me to be on my feet quite often. My footwear includes brands such as Brooks Ghost Runners, Hoka Bondi 9’s, and Nike Motiva’s, and I don’t opt for restrictive socks. I also apply Vick’s Vaporub to my feet, a practice handed down from my family, and stick with simple, non-fragrant lotions like Vanicream and CeraVe SA Cream for my skin. In addition, I am curious about the my big toenail's change in color. What might be the underlying reasons for this? Also, I have these persistent dark spots on my toes that I've struggled with since my days on the runway. Despite my efforts, nothing has succeeded in lightening or diminishing their appearance. I'm just looking to determine if there might have been a factor from the past that could have contributed to these issues. I’m not sure what else to include, but I’m open to answering any questions you might have. Thank you for your attention! Best wishes from a worried soul!
Strange Jelly-Like Substance Observed from Wound
I’m a 21-year-old female living with an auto-inflammatory condition known as hidradenitis suppurativa (HS). Recently, I've experienced a concerning issue with one of my wounds. This particular wound causes significant pain and excessive bleeding. However, whenever I attend to it, I tend to find this unusual jelly-like substance present within it. Interestingly, this phenomenon has only occurred with this one wound and not any of the others I have. The bleeding seems to persist until I manage to remove this jelly substance, after which it typically slows down and comes to a halt completely. I’m seeking insights into what this might signify so that I can effectively discuss it with my healthcare provider.
Battling Chronic Nausea and Vomiting for Over Two Years
For the past two years, I (age 26, female) have been enduring an incredibly challenging health situation. I experience intense nausea daily and find myself vomiting numerous times, with almost nothing providing relief. To provide some background, I’m from West Texas and I currently weigh around 190 pounds, standing at 5’7”. Initially, my weight was about 211 pounds when these symptoms began, and it fluctuates frequently between 190 and 225 pounds. I engage in vaping and consume THC. Previously diagnosed with hypothyroidism, my condition seemingly resolved, according to my healthcare providers. Additionally, I have polycystic ovarian syndrome (PCOS). I have consistently faced irregular bowel movements, with stools that are loose and sometimes appear to have mucus. Compounding my struggles, I've also suffered from migraines. I have had an IUD for over five years, experiencing two insertions of the Kyleena device. In December 2022, my battle with health took a severe turn when I was diagnosed with stage 4 Hodgkin’s Lymphoma, requiring chemotherapy treatment, specifically AVBD (Apologies for not recalling the exact medication names). By July 2023, I had fortunately achieved remission. However, after reaching remission, my vomiting worsened, transforming from primarily white foam to a mixture of 80% bile, any food I attempt to consume, and still white foam. This intense vomiting, accompanied by significant pain in my upper back, escalated to more than eight episodes daily by November 2023. At that time, THC seemed to be the only avenue for me to retain any food. During this tumultuous period, I consulted various doctors who, after confirming I wasn’t pregnant, attributed my symptoms to Cannabinoid Hyperemesis Syndrome (CHS). Immediately, I ceased THC consumption for over six months, yet the vomiting continued unabated. Each time, doctors would prescribe ondansetron, regardless of my claims that it provided no relief. I experimented with various diets recommended by medical professionals, but there were no improvements in my condition. Eventually, I obtained a referral to a gastroenterologist who intended to perform an endoscopy. However, the procedure was prohibitively expensive even with insurance, and thus was never conducted. This doctor also ordered blood tests to rule out several gastrointestinal disorders, such as Crohn's disease, Irritable Bowel Syndrome (IBS), and gluten sensitivity, but all results came back normal. Afterward, I had another appointment with a different gastroenterologist, but the doctor failed to meet with me. Instead, a nurse informed me that the doctor had merely recommended promethazine without conducting any tests or scheduling further visits. When I mentioned the possibility of gallbladder issues, the doctor laughed dismissively at my suggestion. Discussing my situation with my oncologist, he suggested that my heightened sensitivity to food odors stemmed from my chemotherapy experiences while I was working in fast food. While food smells indeed affect me, I'm primarily triggered by medical scents such as rubbing alcohol and cleaning agents. This ongoing ordeal has been overwhelmingly distressing. I now experience episodes of vomiting accompanied by bright red blood, presumably due to a throat tear. When I first encountered this troubling symptom, I consulted a doctor who appeared unfazed and prescribed a promethazine suppository, which does help but makes me extremely drowsy. My nausea persists nearly around the clock, often feeling as if there’s a heaviness in the upper part of my abdomen. I frequent urgent care facilities when my symptoms intensify, only to be met with minimal assistance since this is a chronic issue. Currently, I lack a primary care physician. Whenever I sought one, I encountered skepticism regarding my condition, with some healthcare professionals implying that I was exaggerating my symptoms. Though many physicians who do take my situation seriously seem baffled, I've lost count of the diverse medical experts I've consulted about these ongoing issues. If anyone has insight or suggestions, I would genuinely appreciate it. I can share my latest bloodwork results if that would be helpful—just let me know!
Strange Stomach Sensation Leading to Waking Up
Greetings. I'm a 36-year-old male, standing at 172 centimeters and weighing 90 kilograms. I don't take any medications, nor do I smoke. I've been living with diastasis recti for several years now, and I may also have irritable bowel syndrome (IBS). Additionally, I deal with fatty liver and kidney stones, though I assume these last two conditions are not related to my current concern. Occasionally, I experience a peculiar sensation that jolts me awake; it feels like a quick pulsing in my stomach. I’ve noticed it tends to affect the left side when I’m lying on my left side and the right side when on my right. Remarkably, it can occur even when I’m on my back. This strange feeling often escalates into a surge that fully rouses me. Alongside this, I sometimes feel prickling sensations throughout my body and fleeting lightheadedness. When this sensation disturbs my sleep while I’m turned to my side, shifting onto my back or the opposite side might alleviate it, but not always. In instances where I awaken while lying on my back, I discovered that gently pressing my hands on either side of my stomach can help, as can rising to a sitting or standing position. However, during my last two episodes—one a couple of weeks ago and another tonight—those techniques weren’t effective right away, which made me feel a bit anxious, prompting me to seek advice. Does anyone have insight into what might be going on? By the way, I’ve undergone routine ultrasound examinations of my abdomen by two different physicians during check-ups, both of whom assured me that everything appears normal, including my abdominal aorta and internal organs. They didn’t identify any issues at that time.