Public Profile -- huD7960A
Public profile url: https://my.pgp-hms.org/profile/huD7960A
Personal Health Records
Demographic Information
| Date of Birth | 1951-05-16 (72 years old) |
|---|---|
| Gender | Male |
| Weight | 166lbs (75kg) |
| Height | 5ft 8in (172cm) |
| Blood Type | O+ |
| Race | White |
Conditions
| Name | Start Date | End Date |
|---|---|---|
| Abnormal EKG | ||
| Astigmatism | ||
| Benign Prostatic Hypertrophy (BPH) | ||
| Bruxism | ||
| Diabetes mellitus, type 2 | ||
| HYPERCHOLESTEROLEMIA | ||
| Hypokalemic Periodic Paralysis | ||
| Knee Injury | ||
| Kyphosis | ||
| Nearsightedness | ||
| Sleep Apnea | ||
| Strabismus | ||
| Temporomandibular Joint (TMJ) Disorder |
Medications
| Name | Dosage | Frequency | Start Date | End Date |
|---|---|---|---|---|
| Acetazolamide | ||||
| Byetta | ||||
| INSPRA | ||||
| Niacin | ||||
| Niacinamide | ||||
| Potassium Chloride | ||||
| SYMLIN |
Allergies
| Name | Reaction/Severity | Start Date | End Date |
|---|---|---|---|
| Barbiturates | Severe | ||
| Epinephrine | Severe | ||
| Halothane | Severe | ||
| Pentothal | Severe | ||
| Succinylcholine | Severe |
Procedures
| Name | Date |
|---|---|
| Barium Swallow X-Ray | |
| Breathing Treatment | |
| Chest X-Ray | |
| Contact Lens Fitting | |
| Continuous Positive Airway Pressure (CPAP) | |
| CT Head - With and Without Contrast | |
| CT Maxillofacial | |
| Dental X-Rays | |
| Echocardiogram | |
| Head and Face Reconstruction | |
| Head CT scan | |
| Head MRI | |
| Head X-Ray | |
| Heart angiogram | |
| Knee Arthroplasty | |
| MR Knee - With Contrast | |
| Nasal Septum Repair | |
| Open Repair - Palatal or Maxillary Fracture (LeFort I) | |
| Skull X-Ray | |
| Sleep apnea surgery (UPPP) | |
| Strabismus Repair | |
| Teeth X-Rays | |
| Thallium Stress Test | |
| Tonsillectomy | |
| Upper Endoscopy | |
| Upper GI Series | |
| Vision test (refraction) |
Test Results
| Name | Result | Date |
|---|---|---|
| Height | 68 inches | 2010-08-01 |
| Weight | 2656 ounces | 2010-08-01 |
Immunizations
| Name | Date |
|---|---|
| Flu Shot | 2010-01-01 |
| Flu Shot | 2009-01-01 |
| Flu Shot | 2008-01-01 |
| Influenza Vaccine, Type Unknown | 2010-01-01 |
| Influenza Vaccine, Type Unknown | 2009-01-01 |
| Influenza Vaccine, Type Unknown | 2008-01-01 |
| Pneumococcal Vaccine, Type Unknown | 2009-01-01 |
| Poliovirus Vaccine, Type Unknown | 1958-01-01 |
| Smallpox (Vaccinia) Vaccine | 1954-01-01 |
| Tetanus Toxoid, Unknown Type | 2005-01-01 |
Updated: 2010-10-18T03:40:20.508Z
Samples
| Saliva Collection Pilot Study for 100 participants |
Sample
93782268
(saliva)
received
2011-10-26 20:48:20 UTC
by Harvard University.
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Sample
83887529
(saliva)
received
2011-09-13 19:03:13 UTC
by Harvard University.
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Sample
1097838
(saliva)
received
2011-09-09 20:01:00 UTC
by Harvard University.
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|
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| Saliva Collection for Multiple Studies |
Sample
99089815
(saliva)
received
2012-02-24 21:08:04 UTC
by Harvard University / TeloMe, Inc..
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Sample
16393670
(saliva)
received
2012-02-24 20:30:31 UTC
by Harvard University / TeloMe, Inc..
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| Boston, MA blood collection September 20, 2014 |
Sample
42212428
(whole blood)
mailed
2014-09-20 21:00:00 UTC
by
huD7960A.
Show log
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Sample
31503542
(whole blood)
mailed
2014-09-20 21:00:00 UTC
by
huD7960A.
Show log
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Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 2017-03-14 | Complete Genomics | PGP | huD7960A: var-GS000039821-ASM.tsv.bz2 |
Download
(1.2 GB) |
View report
• male • 2,757,636,620 positions covered • ref. b37 |
|
| 23andMe | Participant | LK6980.bai |
Download
(6.2 MB) |
|||
| 23andMe | Participant | LK6980.vcf.gz |
Download
(6.98 MB) |
|||
| 23andMe | Participant | LK6980.report.pdf |
Download
(758 KB) |
|||
| 23andMe | Participant | LK6980.bam |
Download
(10.8 GB) |
|||
| 2012-06-23 | 23andMe | Participant | 23andme-exome-6-23-2012-huD7960A.vcf.gz |
Download
(6.55 MB) |
View report
• male • 108,376 positions covered • ref. b37 |
|
| 2011-07-26 | 23andMe | Participant | genome____Full_20110726145412.txt |
Download
(23.8 MB) |
View report
• male • 960,522 positions covered • ref. b36 |
Geographic Information
| State: | California |
Family Members Enrolled
None added.Surveys
| PGP Participant Survey | Responses submitted 7/16/2011 13:03:26. Show responses |
|---|---|
| Timestamp | 7/16/2011 13:03:26 |
| Year of birth | 60-69 years |
| Which statement best describes you? | I am comfortable making my genome sequence data publicly available without prior review. |
| Severe disease or rare genetic trait | Yes |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. | I have a disorder that falls within the phenotype of a severe form of hypokalemic periodic paralysis. It seems to have an autosomal dominant pattern on my father's side of the family, and includes daily weakness and loss-of-consciousness episodes coming from food. For me, there is also documented full-body paralysis including full breathing paralysis (causing an emergency) and many other abnormal and severe reactions to many common hospital medications. Like other forms of hypokalemic periodic paralysis, the age of onset of the symptoms for me was at 20 years of age. The next generation in the family is now beginning to be affected. Unlike other forms of PP, my symptoms include cardiac symptoms, CNS symptoms and pancreatic symptoms, all in response to food. There are many severe medication reactions, of course. I have had genetic tests for the most common genes for periodic paralysis, but these tests were negative, likewise negative tests for the common pseudocholinesterase deficiency genes. I have been told that the cause is most likely a "medically new" channelopathy. If so, it is currently undiscovered. My own feeling is that the disorder is more severe for me because of the effects of several genes, not just one gene. In particular, I suspect the main abnormality is in genes that are directly or indirectly involved in the potassium ATP channels, which could explain why I have such severe symptoms. |
| Disease/trait: Onset | 20-29 years of age |
| Disease/trait: Rarity | Very rare/uncommon |
| Disease/trait: Severity | Very severe disease |
| Disease/trait: Relative enrollment | Yes, I have one or more affected relatives who have expressed an interest |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | No |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | 1. I have a letter from the anesthesiologist who describes one of my paralytic reactions that caused breathing paralysis, and what he did about it. 2. I have EKG's from a Holter test that document unusual cardiac reactions. Before eating, the EKG looked very good and the heart rate was 60 bpm. After eating, tachycardia took place, where the resting heart rate rose to 128 bpm and there were many arrhythmias and irregularities. The EKG's didn't even look like EKG's anymore. The episodes lasted for about 5 hours, slowly subsiding almost to normal again at the end, but then it was time for the next meal. Because there were three meals, about five hours apart, there were fifteen hours of abnormal EKG patterns, all subisiding by the end of the 5 hour interval, recorded on the Holter. |
| Sex/Gender | Male |
| Race/ethnicity | White |
| Maternal grandmother: Country of origin | Hungary |
| Paternal grandmother: Country of origin | Ukraine |
| Paternal grandfather: Country of origin | Ukraine |
| Maternal grandfather: Country of origin | Russian Federation |
| Enrollment of relatives | No |
| Enrollment of older individuals | Yes |
| Enrollment of parents | No |
| Have you uploaded genetic data to your PGP participant profile? | No, but I have genetic data and plan to upload it |
| Have you used the PGP web interface to record a designated proxy? | Yes |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? | Yes |
| Uploaded health records: Update status | Yes |
| Uploaded health records: Extensiveness | 3 |
| Blood sample | Yes |
| Saliva sample | Yes |
| Microbiome samples | Yes |
| Tissue samples from surgery | Yes |
| Tissue samples from autopsy | Yes |
| PGP Participant Survey | Responses submitted 8/24/2012 18:48:34. Show responses |
| Timestamp | 8/24/2012 18:48:34 |
| Year of birth | 60-69 years |
| Which statement best describes you? | I am comfortable making my genome sequence data publicly available without prior review. |
| Severe disease or rare genetic trait | Yes |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. | I have been diagnosed with hypokalemic periodic paralysis, which affects about 1 in 100,000 people. HypoK-PP is an ion channel disorder that dangerously manifests with the use of hospital medications but also in response to food and the body's own internal chemistry. About 70% of HypoK-PP patients have a known genetic mutation. I am in the 30%, where the mutations are not found yet. My variant was said to be "new" in that it frequently includes a loss-of-consciousness component as well as paralysis and weakness in the episodes. In HypoK-PP, an abnormal amount of potassium shifts into the cells, losing the potential difference that the cells need to function. It means that muscles can't contract in a full blown attack or can't easily contract in a partial attack. In my case it includes daily paralytic and weakness reactions to food, and dangerous unexpected paralytic responses to medications in the hospital, for instance, where I am unexpectedly paralyzed and unable to move, including breathing muscles. I could not call out, gesture or push a button to tell anyone that I was in trouble. Luckily, unknown to me, my oxygen status was being monitored. After I lost consciousness due to anoxia, the team came in and provided mechanical breathing assistance. My breathing was not back to normal for several days. This is not the only hospital emergency like this that I have experienced -- this team was trying their hardest to avoid this type of problem, but we had the problem anyway. Episodes started in my late teens (1970) in response to food, where I would become incapacitated for 72 hours (three days) after many of my meals. With a carefully controlled diet, I was able to shorten the episodes, but not eliminate them. On a Holter monitor (in 2009) the EKG components of my episodes were measured. Starting in a fasting state, my EKG is normal, or even good, with a pulse rate of about 59 beats per minute. Within a half hour the episode is apparent, with many PVC's (premature ventricular contractions), other arrhythmias, and then tachycardia, going up to a resting pulse rate of about 128 bpm. The EKG's also showed breathing difficulty. That day the episodes resolved in about five hours, where the pulse rate slowly came back to normal. But then a new episode came on because it was time for the next meal. So the 24 hour Holter showed 15 hours of abnormal EKG's, in response to food, slowly resolving in five hours each, that day. I am otherwise very healthy, but these daily episodes are very bothersome and severely limit my quality of life. |
| Disease/trait: Onset | 10-19 years of age |
| Disease/trait: Rarity | Very rare/uncommon |
| Disease/trait: Severity | Very severe disease |
| Disease/trait: Relative enrollment | Maybe |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | No |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | 1. I have excerpts from the 2009 Holter data that show the EKG's in response to food. 2. I have strength tests over time, first without HypoK-PP medication and then with HypoK-PP medication (walking speed on elevated treadmill, etc.) Many of these medications become ineffective after about about six to twelve weeks. 3. Finally, I have extensive results from a "provocative test" that was performed in my cardiologist's office. It is similar to a modified glucose tolerance test, where carbohydrates were ingested, and then, over time, various measurements are taken. Measurements included strength (walking speed on treadmill), serum glucose, serum insulin, serum potassium, also comments by cardiologist over time. There were some very unusual results -- my fasting insulin levels started at about 8% of normal (I started at around 0.6 microunits per ml, where normal fasting insulin is about 7.0 microunits per ml). After ingestion of glucose, when the insulin levels first rose to be about 1 microunit per ml, I lost 1/4 of my walking speed, and was barely able to walk by the time insulin levels rose to 5 microunits per ml. In normal subjects, postprandial insulin levels can easily go up to 140 microunits per ml. Mine rose up to about 35 microunits per ml. I was not "ok" again until the insulin levels fell down below 3.0 microunits per ml. The potassium shift into the tissues, out of the blood, was documented in response to the glucose ingestion, falling from 4.2 mEq down to 3.5, and then coming up to 3.9 -- all in the normal range. There were PVC's and arrhythmias during the test, too. This was not a severe attack, since I could still walk and did not lose consciousness -- in other attacks I can't move at all and also lose consciousness. |
| Sex/Gender | Male |
| Race/ethnicity | White |
| Maternal grandmother: Country of origin | Hungary |
| Paternal grandmother: Country of origin | Ukraine |
| Paternal grandfather: Country of origin | Russian Federation |
| Maternal grandfather: Country of origin | Russian Federation |
| Enrollment of relatives | No |
| Enrollment of older individuals | No |
| Enrollment of parents | No |
| Have you uploaded genetic data to your PGP participant profile? | Yes, I have uploaded genetic data |
| Have you used the PGP web interface to record a designated proxy? | Yes |
| Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? | Yes |
| Uploaded health records: Extensiveness | 3 |
| Blood sample | Yes |
| Saliva sample | Yes |
| Tissue samples from surgery | Yes |
| Tissue samples from autopsy | Yes |
| PGP Trait & Disease Survey 2012: Cancers | Responses submitted 3/4/2014 6:06:49. Show responses |
| Timestamp | 3/4/2014 6:06:49 |
| Have you ever been diagnosed with one of the following conditions? | Lipoma |
| Other condition not listed here? | hypokalemic periodic paralysis |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 3/4/2014 6:09:22. Show responses |
| Timestamp | 3/4/2014 6:09:22 |
| Have you ever been diagnosed with any of the following conditions? | Diabetes mellitus, type 2 |
| PGP Trait & Disease Survey 2012: Blood | Responses submitted 3/4/2014 6:10:29. Show responses |
| Timestamp | 3/4/2014 6:10:29 |
| PGP Trait & Disease Survey 2012: Nervous System | Responses submitted 3/4/2014 6:12:20. Show responses |
| Timestamp | 3/4/2014 6:12:20 |
| Have you ever been diagnosed with one of the following conditions? | Muscular dystrophy |
| Other condition not listed here? | hypokalemic periodic paralysis (type of muscular dystrophy)s |
| PGP Trait & Disease Survey 2012: Vision and hearing | Responses submitted 3/4/2014 6:13:42. Show responses |
| Timestamp | 3/4/2014 6:13:42 |
| Have you ever been diagnosed with one of the following conditions? | Myopia (Nearsightedness), Astigmatism, Presbyopia, Strabismus, Floaters, Congenital nystagmus, Tinnitus |
| PGP Trait & Disease Survey 2012: Circulatory System | Responses submitted 3/4/2014 6:15:09. Show responses |
| Timestamp | 3/4/2014 6:15:09 |
| Have you ever been diagnosed with one of the following conditions? | Hypertension, Mitral valve prolapse, Premature ventricular contractions, Cardiac arrhythmia, Raynaud's phenomenon |
| PGP Trait & Disease Survey 2012: Respiratory System | Responses submitted 3/4/2014 6:16:19. Show responses |
| Timestamp | 3/4/2014 6:16:19 |
| Have you ever been diagnosed with any of the following conditions? | Deviated septum, Chronic sinusitis, Chronic tonsillitis, Allergic rhinitis |
| PGP Trait & Disease Survey 2012: Digestive System | Responses submitted 3/4/2014 6:18:20. Show responses |
| Timestamp | 3/4/2014 6:18:20 |
| Have you ever been diagnosed with any of the following conditions? | Impacted tooth, Dental cavities, Temporomandibular joint (TMJ) disorder, Canker sores (oral ulcers), Gastroesophageal reflux disease (GERD), Inguinal hernia, Hiatal hernia |
| PGP Trait & Disease Survey 2012: Genitourinary Systems | Responses submitted 3/4/2014 6:19:09. Show responses |
| Timestamp | 3/4/2014 6:19:09 |
| Have you ever been diagnosed with any of the following conditions? | Benign prostatic hypertrophy (BPH) |
| PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue | Responses submitted 3/4/2014 6:20:34. Show responses |
| Timestamp | 3/4/2014 6:20:34 |
| Have you ever been diagnosed with any of the following conditions? | Dandruff, Allergic contact dermatitis, Skin tags, Hair loss (includes female and male pattern baldness), Acne |
| PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue | Responses submitted 3/4/2014 6:22:02. Show responses |
| Timestamp | 3/4/2014 6:22:02 |
| Have you ever been diagnosed with any of the following conditions? | Chondromalacia patella (CMP), Achilles tendonitis, Postural kyphosis |
| PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies | Responses submitted 3/4/2014 6:24:02. Show responses |
| Timestamp | 3/4/2014 6:24:02 |
| Have you ever been diagnosed with any of the following conditions? | Ehlers-Danlos syndrome |
| PGP Basic Phenotypes Survey 2015 | Responses submitted 8/30/2015 22:29:40. Show responses |
| Timestamp | 8/30/2015 22:29:40 |
| 1.1 — Blood Type | O + |
| 1.2 — Height | 5'8" |
| 1.3 — Weight | 165 |
| 1.4 — Comments | strong tendency to gain weight -- have been 245 lbs previously. Severe lifestyle changes bring me down to 165 lbs. |
| 2.1 — Left Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) | 5 |
| 2.2 — Right Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) | 5 |
| 2.3 — Left Eye Color - Text Description | dark green, with thin brown core |
| 2.4 — Right Eye Color - Text Description | same |
| 2.5 —Comments | My three sisters have blue eyes like my father. I have eyes that match my mother's, a type of hazel which is dark green with a thin brown core. At birth I had blue eyes. |
| 3.1 — What is your natural hair color currently, when without artificial color or dye? | brown |
| 3.2 — Hair Color - Text Description | Dark Brown. |
| 3.3 — Comments | My hair is wilder and more difficult to control than other people's -- neither curly nor straight, and with more inconsistent behavior. |
| 1.4 — Handedness | Right |
Absolute Pitch Survey [see all responses]
Can tell if notes are in tune: Yes
Can sing a melody on key: Yes
Can recognize musical intervals: Yes
Do you have absolute pitch? No
Enrollment History
| Participant ID: | huD7960A |
| Account created: | 2010-07-05 04:57:14 UTC |
| Eligibility screening: | 2010-07-05 05:09:01 UTC (passed v2) |
| Exam: | 2010-07-05 19:28:31 UTC (passed v2) |
| Consent: | 2015-08-06 14:29:44 UTC (passed v20150505) |
| Enrolled: | 2010-10-10 16:28:52 UTC |
