Guidance Needed on Genetic Test Allele Interpretation
Demographic Information: 22-year-old female, weighing 114 lbs, height 5’5”. Current medications include Xywav, FluvoxaMINE, bupropion XL, modafinil, and propranolol (as needed for anxiety). Diagnoses include idiopathic hypersomnia, borderline personality disorder, OCD, and treatment-resistant persistent depressive disorder with episodes of major depression and anxiety. Hello, I underwent genetic testing focused on the HLA-DQB1 allele a few years ago after consulting with a specialist in narcolepsy. The results indicated that I do not possess the typical narcolepsy allele pattern, leading me to believe I have idiopathic hypersomnia instead. However, I often question whether there could be a distinct cause behind my symptoms rather than a vague "we don't know" diagnosis. I have noticed that I have several unusual genetic traits and I'm interested in exploring research regarding my specific alleles. I hope to find information that could be useful to discuss with my doctor. However, I’m uncertain if I'm interpreting my alleles correctly. I think they may be listed as HLA-DQB1*0203, but I want to verify this. Since the blood test was conducted some years ago, I prefer not to trouble my doctor for clarification in between our appointments. Below is the information from my MyChart page, which might help clarify. - Specimen type: Blood - Testing method: SSOP - HLA-DQB1* — value: 02 - HLA-DQB1* — value: 03(9) - Notes: The patient tested NEGATIVE for the narcolepsy-related antigen/allele: HLA-DQB1*06:02 I refer to my genetic traits as "unusual" because both my father and I possess relatively rare genetic anomalies—my traits being more pronounced. For instance, I have complete immunity to caffeine and numbing agents; I’ve even undergone dental procedures without anesthesia since it lacks effectiveness on me. Additionally, I face treatment-resistant depression, a familial history of autoimmune diseases (often linked to narcolepsy), no sensitivity in my lower back despite normal MRI results, and some unique enzymes identified in separate genetic panels that aren’t relevant to this discussion. As a neuroscience researcher pursuing a PhD, I find these aspects intriguing and am skilled at interpreting scientific literature. I am actively engaging in this exploration rather than recklessly searching for a self-diagnosis online. I collaborate with a specialist who is eager to discuss potential explanations and paths we can pursue together.
Answers (1)
9/4/2025, 11:30:56 PM
OpenHealth AI
It’s great to hear about your proactive approach to understanding your health and your genetic testing results. Given your specific situation and the complexities involved, let’s break this down into key points and actionable steps.
Main Points
You have undergone genetic testing related to your HLA-DQB1 alleles, which suggested that you do not have the typical genetic pattern associated with narcolepsy, leading to a diagnosis of idiopathic hypersomnia. You are eager to explore the significance of your alleles and their connection to your symptoms, particularly as they relate to your family's health history and personal experiences.
Explanation
The HLA-DQB1 gene is associated with immune system function and can be relevant in various autoimmune disorders, and also influences sleep regulation. It’s understandable to seek clarity around your HLA-DQB1 alleles, especially given your unique health experiences, including treatment-resistant conditions and unusual responses to anesthesia.
From the information you provided, it appears that your allele readout is indeed HLA-DQB102 and HLA-DQB103. The absence of the HLA-DQB1*06:02 allele is significant, as its presence is often found in patients with narcolepsy. Your interest in genetic traits, particularly those that correlate with immune response and neurological function, is a pertinent area of research, especially as it concerns your symptoms and family history.
Next Steps
-
Collect Detailed Genetic Information:
- Gather all your genetic test results and any notes from consultations you’ve had. This will help form a comprehensive view of your genetic background and how it relates to your symptoms.
-
Literature Review:
- Use your research skills to explore peer-reviewed studies on HLA-DQB1 and its relation to neurological disorders, hypersomnia, and autoimmune diseases. Look for studies involving unique traits associated with caffeine metabolism and anesthesia resistance, as these may hint at underlying genetic variations.
-
Prepare for Your Discussion:
- Based on your findings, compile a list of questions and points you wish to discuss with your doctor during your next appointment. Be clear about what specific aspects you wish to explore further—this can include potential therapies, additional tests, or lifestyle modifications.
-
Document Your Symptoms:
- Keep a detailed log of your symptoms, including any correlations with specific activities, foods, or stressors. This may provide useful insights to share with your healthcare provider.
-
Consider Lifestyle and Diet:
- Since you mentioned complete immunity to caffeine, evaluate your daily habits and dietary intake that could affect your energy levels and overall health. Consider maintaining a consistent sleep schedule, and practice good sleep hygiene to manage your hypersomnia.
-
Stay Informed and Engaged:
- Continue your collaboration with your specialist and seek out forums or professional networks dedicated to research in idiopathic hypersomnia and related genetic conditions. Engaging with the research community can lead to new insights and understanding.
Your desire to delve deeper into your genetic information and its implications for your health is commendable. Remember, the journey of understanding your health is often gradual, and it’s completely valid to seek clarity and answers along the way. Let me know if you have further questions or need more assistance in any specific area!
Related Questions
Understanding My Experience with Overdose-Related Symptoms and Behavior
25 years old, 165 cm tall, and weighing 70 kg. Summary: After sharing a complaint about my interactions with paramedics, I've taken a moment to reflect on their feedback and review the situation through the footage. I recognize that my conduct during those moments was inappropriate, and I am filled with remorse. Subsequently, I have retracted my complaint and am now seeking mental health support. I desire to clarify certain aspects since my medical records do not completely align with what I went through. Below, I detail my symptoms. Yesterday, I made a post on the AskDoctors forum, hoping for insights regarding my condition. The advice I received prompted a self-realization that had evaded me until now. Initially, I was outlining a grievance against paramedics who doubted the legitimacy of my seizures and accused me of feigning the experience. My response was not only disproportionate but also hostile—I yelled, wept, and labeled them as heartless. Such reactions were completely unwarranted and unjustifiable. Ultimately, I was physically stable, with vital signs indicating no critical issues; there were only temporary fluctuations in my blood work, which shouldn’t have raised alarms. I feel profound regret over my conduct during that encounter. Watching the footage incites feelings of self-disgust. I’ve decided to withdraw my complaints and am committed to mental health resources. I opted to delete my previous post since it contained sensitive information about my professional and educational background; I was worried it might provoke disciplinary action from my university, which I cherish as my career gives my life meaning. I admit to feeling cowardly in this respect. The initial reason for my inquiry was a desperate need for clarity about the symptoms I experienced, as my discharge documentation omits much of what transpired in the hospital and the subsequent three days. I greatly value the input I’ve received and hope to gather more perspectives. I fully acknowledge my wrongdoings and find my previous behavior abhorrent. I understand how challenging it is for emergency personnel to fulfill their duties when faced with such a situation. I’ve discussed with family and friends the importance of exercising discretion when contacting emergency services and ensuring it’s truly necessary. I regret taking up valuable resources that could have been reserved for individuals in genuine need of urgent care. My actions were shameful, not just for me but also for my colleagues who work in emergency services; I genuinely believe the clinicians should have distanced themselves from my case entirely. I've canceled my appointment with the neurologist, but I would genuinely appreciate insights from others on this subject. Could excessive doses of sertraline, propranolol, promethazine, and alcohol induce psychological seizures? Is it possible for these seizures to recur? Were my hallucinations indicative of some kind of psychosis? During the episodes, I saw hair-like formations everywhere and everything seemed to emit a blue glow. In the hospital, I consistently perceived doctors passing by. At home, the LED lights appeared to move, and I often caught glimpses of faces in my peripheral vision. There were also auditory experiences, such as hearing things that weren’t present, as confirmed by my friend. Initially at home, I was unaware I was having seizures, although I did hear police officers numbering them and acknowledging them as such. I had three episodes where I was placed in the recovery position. In my medical notes, I mentioned experiencing ten seizures throughout the night, though I can’t verify this. I was seemingly in a continuous cycle of them. I recall at least once drooling uncontrollably and my hands looked peculiar; on one occasion, I screamed when I regained consciousness due to an awkward hand position. I also experienced significant neck pain and discomfort in my feet. I know I fell twice while hospitalized; fortunately, my mother was there to catch me each time, so I avoided serious injury. I was never alone in the facility. Everything seemed to settle down after approximately three days, right around my third visit. I recall a persistent ache at the nape of my neck that left me feeling drowsy, often drifting in and out of consciousness and repeatedly asking for the time. It was a never-ending ordeal, and although I had little appetite, I did not vomit at all. Reflecting on this whole episode leaves me feeling as if it were entirely fabricated. I struggle to articulate it. Conversations about care options unfolded around me, yet I grasped little of what was being discussed. I often replied with “yes” or sought validation from my mother. I remember thinking it was remarkable that my mum had glasses with water in them; I even imagined one of my cats perched on my aunt’s shoulder. Overall, it felt akin to a terrifying drug experience. I do have videos capturing my behavior at home, though I cannot recall anything from the hospital. I often awakened with either my mother, aunt, or medical staff restraining me. Could it all stem from psychological causes? Is it possible that the medications led to a psychotic episode where I convinced myself I was experiencing seizures and on the brink of death? After they subsided, I felt like an automaton for weeks, plagued by involuntary muscle jerks—primarily in my legs and neck. I sincerely hope these symptoms do not return. I intend to avoid emergency care unless it’s absolutely necessary. I seek nothing more than to comprehend what transpired. Thank you for your thoughts.
Bleeding Concerns with IUD and Yeast Infection Treatment
I’m a 20-year-old female, standing at 5’4” and weighing 155 pounds. Hello everyone! Approximately three weeks ago, I had the Kyleena IUD placed, and everything felt fine afterward—I can still feel the strings. I noticed some mild spotting that was brown for about a week, followed by my menstrual period, then continued with light spotting. Recently, I suspect that I might have developed a yeast infection, which I am currently addressing using Monistat 7. I applied the first dose yesterday. To clarify, I am certain that I am not dealing with a sexually transmitted infection. However, I’ve observed an increase in bleeding, significantly more than what I’ve experienced before. The blood appears to be light red, and I would compare the amount to the lightest day of my period. I could comfortably go an entire day without needing to change my pad, though I still do it for hygiene reasons. Is this a common occurrence? Most of the bleeding took place this morning after I woke up, coinciding with the Monistat cream leaving my body. Under what circumstances should I seek medical advice regarding this issue instead of waiting to see how the treatment progresses?
Chronic Joint Pain Since Childhood
Since I was eight years old, I’ve endured intense and persistent pain in my joints. Initially, the discomfort was primarily in my knees, characterized by a sharp sensation right beneath the kneecap. As someone on the autism spectrum, I often visualize a strange, soothing thought: the idea of removing my kneecap and using an ice cream scoop to relieve the pressure underneath it. My parents sought help from several medical professionals, all of whom attributed my symptoms to growing pains. I even underwent cancer screenings at the age of nine because doctors felt my level of discomfort was excessive for mere growing pains. At school, I frequently had to wear dual knee braces. When I turned 14, I had a CT scan, but the results were inconclusive; doctors continued to insist it was just growing pains. At 18, I had an X-ray that also revealed nothing abnormal. Now at 20, my joint pain persists and is progressively worsening. My hands now ache in addition to my knees, and on particularly bad days, the pain radiates down to my ankles, making walking and sleeping almost impossible for half the week. The discomfort has entirely hindered my ability to work. My family and I strongly suspect that I may have some form of arthritis, but I struggle to convince the medical community of this due to my young age. My father, who suffers from arthritis himself, often empathizes when I express my pain, telling me, "that sounds familiar." I have broken down in front of numerous doctors, pleading for assistance, yet I consistently leave without answers, only to be scheduled for more scans that come back normal. The medical care I have received thus far has been far from satisfactory; for instance, I was prescribed eye drops that nearly resulted in serious damage to my vision when I consulted an eye specialist. This is just one of many frustrating experiences I’ve faced. I feel completely overwhelmed and in agony, and I have no way to reach out for specialized medical help since my only means of transportation is my father, who is also afflicted by arthritis. I feel lost and in deep pain without a clear path forward.
Seeking Guidance on Persistent Chest Discomfort After Extensive Testing
I'm a 43-year-old male, standing at 5'11" and weighing 180 pounds. My journey began around March to April of 2025 when, despite regularly hitting the gym four times a week, I was struck by severe chest pain along with frequent belching and a tight feeling in my diaphragm. At times, the pain became so intense that I feared it might be a heart attack. **Medical History:** In May 2019, I received a diagnosis of **PVS** and have since been under the care of a cardiac electrophysiologist. Upon experiencing these new symptoms, I consulted my EP, who conducted an EKG right then and set me up with a 7-day heart monitor. The results showed no irregularities. Subsequently, I was directed to a cardiologist, who carried out both a **stress test** and an **echocardiogram**, both of which yielded normal findings. Afterward, I returned to my primary care physician, who speculated that my gallbladder might be involved. An **ultrasound** was performed but revealed no issues. I then requested a **chest X-ray**, which also came back normal. My PCP then considered the possibility of a **hiatal hernia** and referred me to a gastroenterologist; unfortunately, that appointment took almost **five months** to materialize. In the meantime, my symptoms persisted, prompting me to cease weightlifting and switch my focus to **cardio and running**. Surprisingly, these activities didn’t exacerbate my symptoms, though the chest pain remained constant. When I finally saw the gastroenterologist, they suggested an **upper endoscopy**, which took another roughly three months to arrange. During this procedure, I was diagnosed with **Eosinophilic Esophagitis (EOE)**, a condition I had not previously experienced. The doctors also placed a pH monitoring device for acid reflux assessment, which indicated **no unusual acid exposure**. Following this, I began a treatment plan that included a swallowed steroid inhaler and an increased dosage of **omeprazole**. Sixty days later, I underwent another endoscopy, which showed that the EOE had largely resolved, with minimal residual symptoms. Unfortunately, my chest discomfort persisted without any improvement. It has now been about **a year** since these issues emerged, and I still have not found substantial relief. A recent chest MRI completed at a dedicated imaging center revealed no abnormalities. I entertained the idea of **costochondritis**, but again, the MRI did not support that hypothesis. The only minor relief I find comes from consciously pulling my shoulders back and expanding my chest. I continue to experience discomfort around my **diaphragm** and tenderness in the area of the **xiphoid process**. My PCP prescribed a steroid pack, which was somewhat beneficial for the pain but failed to alleviate the pressure or constant discomfort. At this juncture, I feel quite lost and uncertain about my next steps. I would greatly appreciate any insights or experiences from others who have faced similar issues. Additionally, if there are any physicians here willing to offer advice, I am open to traveling to find the answers or relief I'm desperately seeking.
Understanding Mild Uncomplicated Diverticular Disease
I am a 29-year-old female, standing at 5'7" and weighing 130 pounds. Recently, a CT scan revealed that I have mild diverticulitis. About a week ago, I experienced significant discomfort, particularly in the pelvic region, along with pain in my right leg and hip, and some mild discomfort on the left side. After undergoing a CT scan, which confirmed the presence of mild diverticular disease, I was surprised that no one from my medical team provided any follow-up or acknowledged the condition. My blood tests returned normal results, and I was discharged without further information. While the pain subsided after about three days, it has unfortunately reappeared four days later. Is this something I should be worried about? What does this mean for me? I had a colonoscopy around 11 months ago, which indicated no issues.