Public Profile -- huC11596
Public profile url: https://my.pgp-hms.org/profile/huC11596
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| PGP Participant Survey | Responses submitted 8/9/2015 21:52:57. Show responses |
|---|---|
| Timestamp | 8/9/2015 21:52:57 |
| Year of birth | 1979 |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. | Familial dominant neuromuscular disorder - not yet identified - neurologist is about to ship me off to UMD and from there, if no answers, to NIH (which is where previous neuro tried to send me immediately). Myotonia + myalgia from early childhood, worsened by tiredness, cold, hunger (particularly lack of refined carbs/sugar), and ESPECIALLY inactivity. Made better by moderate exercise, but with a rebound effect after too much exercise. Also improved with heat and massage (but not stretching). Very low lactate threshold. Hyperreflexia in me, but according to mother, grandmother (with same condition) had complete areflexia from her teens. Mother and grandmother both have/had pronounced peripheral neuropathy, and my last workup found some, too. I've had parasthesia, fasculation, and neuralgia (the last I believe from nerve impingement due to chronic myotonia), but these largely resolved with large amounts of moderate exercise. MRI was clean. Action tremor from teenage years at least (others noticed and commented first). No impact on intelligence with age (mother scored in 99.99th %ile on the GRE at 50, as I did at 22, back when it was actually hard). No cardiac or smooth muscle abnormalities at all. A small mutation of my SCN1A gene was found of unknown importance. Other than that, a channelopathy screening came up clean. This neuro isn't sold on the channelopathy angle and suspects something more dastardly, but he saw me when my conditions were at their worst--which, as I said above, I suspect are largely caused by irritation or impingement on the nerves by the badly behaved voluntary muscles, NOT because of some kind of nerve disorder, CNS or otherwise. Another doctor's pet theory is a mitochondrial metabolic disorder, which I find pretty unlikely given its dominant inheritance. |
| Sex/Gender | Female |
| Race/ethnicity | White |
| Maternal grandmother: Country of origin | United States |
| Paternal grandmother: Country of origin | United States |
| Paternal grandfather: Country of origin | United States |
| Maternal grandfather: Country of origin | United States |
| Month of birth | November |
| Anatomical sex at birth | Female |
| Maternal grandmother: Race/ethnicity | White |
| Maternal grandfather: Race/ethnicity | White |
| Paternal grandmother: Race/ethnicity | White |
| Paternal grandfather: Race/ethnicity | White |
| PGP Trait & Disease Survey 2012: Cancers | Responses submitted 8/9/2015 21:53:41. Show responses |
| Timestamp | 8/9/2015 21:53:41 |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 8/9/2015 21:55:11. Show responses |
| Timestamp | 8/9/2015 21:55:11 |
| PGP Trait & Disease Survey 2012: Blood | Responses submitted 8/9/2015 21:55:56. Show responses |
| Timestamp | 8/9/2015 21:55:56 |
| Have you ever been diagnosed with any of the following conditions? | Iron deficiency anemia |
| PGP Trait & Disease Survey 2012: Nervous System | Responses submitted 8/9/2015 21:56:53. Show responses |
| Timestamp | 8/9/2015 21:56:53 |
| Have you ever been diagnosed with one of the following conditions? | Other peripheral neuropathy |
| PGP Trait & Disease Survey 2012: Circulatory System | Responses submitted 8/9/2015 21:57:31. Show responses |
| Timestamp | 8/9/2015 21:57:31 |
| PGP Trait & Disease Survey 2012: Respiratory System | Responses submitted 8/9/2015 21:58:02. Show responses |
| Timestamp | 8/9/2015 21:58:02 |
| Have you ever been diagnosed with any of the following conditions? | Allergic rhinitis |
| Other condition not listed here? | Exercise-induced anaphylaxis |
| PGP Trait & Disease Survey 2012: Digestive System | Responses submitted 8/9/2015 21:58:30. Show responses |
| Timestamp | 8/9/2015 21:58:30 |
| Have you ever been diagnosed with any of the following conditions? | Impacted tooth |
| PGP Trait & Disease Survey 2012: Genitourinary Systems | Responses submitted 8/9/2015 21:59:26. Show responses |
| Timestamp | 8/9/2015 21:59:26 |
| Have you ever been diagnosed with any of the following conditions? | Endometriosis, Female infertility |
| PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue | Responses submitted 8/9/2015 22:01:26. Show responses |
| Timestamp | 8/9/2015 22:01:26 |
| Have you ever been diagnosed with any of the following conditions? | Dandruff, Allergic contact dermatitis, Skin tags, Acne |
| Other condition not listed here? | Keratosis pilaris |
| PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue | Responses submitted 8/9/2015 22:03:10. Show responses |
| Timestamp | 8/9/2015 22:03:10 |
| Have you ever been diagnosed with any of the following conditions? | Sciatica, Rotator cuff tear, Bunions |
| PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies | Responses submitted 8/9/2015 22:05:19. Show responses |
| Timestamp | 8/9/2015 22:05:19 |
| Have you ever been diagnosed with any of the following conditions? | Tongue tie (ankyloglossia) |
| PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue | Responses submitted 8/9/2015 22:07:17. Show responses |
| Timestamp | 8/9/2015 22:07:17 |
| Have you ever been diagnosed with any of the following conditions? | Dandruff, Allergic contact dermatitis, Skin tags, Acne |
| PGP Basic Phenotypes Survey 2015 | Responses submitted 8/30/2015 22:38:46. Show responses |
| Timestamp | 8/30/2015 22:38:46 |
| 1.1 — Blood Type | O - |
| 1.2 — Height | 5'6" |
| 1.3 — Weight | 130 |
| 1.4 — Comments | Currently losing weight to get back to 121lbs. |
| 2.1 — Left Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) | 14 |
| 2.2 — Right Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) | 14 |
| 2.3 — Left Eye Color - Text Description | Hazel, brown in center, main part green, bluer ring around outside--a little less brown than photo |
| 2.4 — Right Eye Color - Text Description | Same |
| 2.5 —Comments | My eye color was the same from toddlerhood until I had my first kid,looking like #16. After my first pregnancy, it turned dramatically greener (age 23)--all the way to 11, if it were more green and less blue. Then it slid back and stopped very close to #14. My mother's eyes went from hazel to true blue by the age of 50, so I guess I shouldn't be too surprised, but I'd thought that eye color didn't change. (My brother's eyes were always blue--both my parents are hazel.) |
| 3.1 — What is your natural hair color currently, when without artificial color or dye? | brown |
| 3.2 — Hair Color - Text Description | ash brown |
| 3.3 — Comments | Born black, fell out, turned red-blonde then straight blonde by the time I was 1 years old. Then it gradually darkened with age. By 18, I straddled the blonde/brown divide, and when I was 30, it was still light brown, but now at 35, it's medium brown and still getting darker! Zero gray. Not a single hair. But one grandmother was completely gray at 40, while my paternal grandmother never got gray hair and died in her 90s. |
| 4.1 — Any final thoughts? | I'm 99% on the O- but it might possibly be O+. If it is, I'll correct this. |
| 1.4 — Handedness | Left |
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: | huC11596 |
| Account created: | 2015-08-10 00:41:54 UTC |
| Eligibility screening: | 2015-08-10 00:44:12 UTC (passed v2) |
| Exam: | 2015-08-10 01:01:53 UTC (passed v20120430) |
| Consent: | 2015-08-10 01:03:14 UTC (passed v20150505) |
| Enrolled: | 2015-08-10 01:04:37 UTC |
