Public Profile -- huB10361
Public profile url: https://my.pgp-hms.org/profile/huB10361
Personal Health Records
None added.Samples
| Boston, MA blood collection September 20, 2014 |
Sample
2651132
(whole blood)
mailed
2014-09-20 21:00:00 UTC
by
huB10361.
Show log
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Sample
71461737
(whole blood)
mailed
2014-09-20 21:00:00 UTC
by
huB10361.
Show log
|
Uploaded data
| Date | Data type | Source | Name | Download | Report | |
|---|---|---|---|---|---|---|
| 2015-03-19 | Ancestry.com | Participant | Sarge |
Download
(5.87 MB) |
||
| 2013-09-18 | 23andMe | Participant | Gumby Girl |
Download
(7.83 MB) |
View report |
Geographic Information
| State: | Massachusetts |
| Zip code: | 01907 |
Family Members Enrolled
None added.Surveys
| PGP Participant Survey | Responses submitted 1/9/2013 13:24:32. Show responses |
|---|---|
| Timestamp | 1/9/2013 13:24:32 |
| Year of birth | 50-59 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. | Ehlers Danlos with Marfans overlaps - CSF leak history (cranial) multiple small nerve root diverticuli throughout spine- low IgM (25)- I wasn't diagnosed until 2010 (previously was dx'ed with lupus with Behcet's features). |
| Disease/trait: Onset | Congenital / present at birth |
| Disease/trait: Rarity | Uncommon |
| Disease/trait: Severity | Moderate severity disease |
| Disease/trait: Relative enrollment | Maybe |
| Disease/trait: Diagnosis | Yes |
| Disease/trait: Genetic confirmation | No |
| Disease/trait: Documentation | Yes |
| Disease/trait: Documentation description | several geneticists' clinical reports- overlaps with symptoms/hypermobility- my disease progression is more severe in downward spiral than most- we do not know WHICH type of EDS I have and/or if I have a concomitant neuromuscular or autoimmune etiology. |
| 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 |
| Enrollment of relatives | No |
| Enrollment of older individuals | Yes |
| Enrollment of parents | Maybe |
| 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? | No, but I plan to |
| Blood sample | Yes |
| Saliva sample | Yes |
| Microbiome samples | Yes |
| Tissue samples from surgery | Yes |
| Tissue samples from autopsy | Yes |
| PGP Trait & Disease Survey 2012: Cancers | Responses submitted 1/9/2013 13:26:30. Show responses |
| Timestamp | 1/9/2013 13:26:30 |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 1/9/2013 13:28:17. Show responses |
| Timestamp | 1/9/2013 13:28:17 |
| Have you ever been diagnosed with any of the following conditions? | Polycystic ovary syndrome (PCOS), High cholesterol (hypercholesterolemia) |
| Other condition not listed here? | lupus, low IgM (25) with abnormal response to vaccine titers, low IgG subclass 3 |
| PGP Trait & Disease Survey 2012: Blood | Responses submitted 1/9/2013 13:29:36. Show responses |
| Timestamp | 1/9/2013 13:29:36 |
| Other condition not listed here? | chronic hypokalemia, chronic metabolic acidosis, elevated ACE |
| PGP Trait & Disease Survey 2012: Nervous System | Responses submitted 1/9/2013 13:34:02. Show responses |
| Timestamp | 1/9/2013 13:34:02 |
| Have you ever been diagnosed with one of the following conditions? | Cluster headaches, Chronic tension headaches (15+ days per month, at least 6 months), Multiple sclerosis (MS), Migraine with aura, Migraine without aura, Arnold-Chiari malformation, Carpal tunnel syndrome |
| Other condition not listed here? | possible CIDP or other demyelinating disease, (CSF protein 380), history of positive Beta 2 Transferrin, multiple nerve root diverticula throughout spine, cervical issues (osteophyte/endplate sclerosis, reversal of cervical lordosis, neuropathy, ataxia, parasthesias, double vision, tinnitus, hearing loss, neurogenic bladder, pain in spine |
| PGP Trait & Disease Survey 2012: Vision and hearing | Responses submitted 1/9/2013 13:35:36. Show responses |
| Timestamp | 1/9/2013 13:35:36 |
| Have you ever been diagnosed with one of the following conditions? | Hyperopia (Farsightedness), Myopia (Nearsightedness), Astigmatism, Strabismus, Floaters, Congenital nystagmus, Tinnitus, Sensorineural hearing loss or congenital deafness |
| Other condition not listed here? | aniscoria, double vision, pseudotumor cerebri |
| PGP Trait & Disease Survey 2012: Circulatory System | Responses submitted 1/9/2013 17:24:13. Show responses |
| Timestamp | 1/9/2013 17:24:13 |
| Have you ever been diagnosed with one of the following conditions? | Atrial fibrillation, Cardiac arrhythmia, Raynaud's phenomenon |
| Other condition not listed here? | Postural Orthostatic tachycardia syndrome with autonomic dysfunction |
| PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity | Responses submitted 1/9/2013 17:26:34. Show responses |
| Timestamp | 1/9/2013 17:26:34 |
| Have you ever been diagnosed with any of the following conditions? | Polycystic ovary syndrome (PCOS), High cholesterol (hypercholesterolemia) |
| Other condition not listed here? | lupus, low IgM (25) with abnormal response to vaccine titers, low IgG subclass 3, low C3-C4, metabolic acidosis, high LDL, homocysteine, elevated ACE at times, sometimes pos. ANA |
| PGP Trait & Disease Survey 2012: Respiratory System | Responses submitted 1/9/2013 17:28:26. Show responses |
| Timestamp | 1/9/2013 17:28:26 |
| Have you ever been diagnosed with any of the following conditions? | Chronic sinusitis, Chronic tonsillitis, Chronic bronchitis, Asthma |
| Other condition not listed here? | CSF leak spontaneous (cranial), hypertrophic tonsils, possible tracheomalacia |
| PGP Trait & Disease Survey 2012: Digestive System | Responses submitted 1/9/2013 17:30:21. Show responses |
| Timestamp | 1/9/2013 17:30:21 |
| Have you ever been diagnosed with any of the following conditions? | Impacted tooth, Dental cavities, Gingivitis, Temporomandibular joint (TMJ) disorder, Canker sores (oral ulcers), Gastroesophageal reflux disease (GERD) |
| Other condition not listed here? | bleeding duodenal ulcer, antral gastritis with erythema |
| PGP Trait & Disease Survey 2012: Genitourinary Systems | Responses submitted 1/9/2013 17:32:30. Show responses |
| Timestamp | 1/9/2013 17:32:30 |
| Have you ever been diagnosed with any of the following conditions? | Urinary tract infection (UTI), Fibrocystic breast disease, Ovarian cysts |
| Other condition not listed here? | neurogenic bladder, vulva mass, hemoperitoneum, tipped uterus, interstitial cystitis |
| PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue | Responses submitted 1/9/2013 17:34:43. Show responses |
| Timestamp | 1/9/2013 17:34:43 |
| Have you ever been diagnosed with any of the following conditions? | Dandruff, Dermatographia |
| Other condition not listed here? | malar rash, spontaneous bruising/rash, edema, vitiligo, anhidrosis, apthous ulcers, thrush |
| PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue | Responses submitted 1/9/2013 17:38:24. Show responses |
| Timestamp | 1/9/2013 17:38:24 |
| Have you ever been diagnosed with any of the following conditions? | Lupus, Spinal stenosis, Sciatica, Rotator cuff tear, Tennis elbow, Plantar fasciitis, Fibromyalgia, Osteoporosis, Flatfeet, Postural kyphosis, Scoliosis |
| Other condition not listed here? | endplate sclerosis, bulge osteophyte complex, cranial instability/cervical hypermobility, stenosis, spondylosis, reversal of cervical lordosis, degenerative disc disease, multiple nerve root diverticula bilaterally throughout cervical, thoracic, and lumbar spine |
| PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies | Responses submitted 1/9/2013 17:39:22. Show responses |
| Timestamp | 1/9/2013 17:39:22 |
| Have you ever been diagnosed with any of the following conditions? | Ehlers-Danlos syndrome, Marfan syndrome |
| Other condition not listed here? | EDS with Marfans overlaps |
| PGP Basic Phenotypes Survey 2015 | Responses submitted 8/21/2015 16:54:18. Show responses |
| Timestamp | 8/21/2015 16:54:18 |
| 1.1 — Blood Type | B - |
| 1.2 — Height | 5'4" |
| 1.3 — Weight | 85.8 |
| 2.1 — Left Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) | 16 |
| 2.2 — Right Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) | 13 |
| 2.3 — Left Eye Color - Text Description | hazel |
| 2.4 — Right Eye Color - Text Description | hazel |
| 2.5 —Comments | yes- my eyes have a rusty color surrounding the iris that was not there before- I also have had lesions for two years, kerataconus, Ehlers-Danlos, and am losing my eyesight. |
| 3.1 — What is your natural hair color currently, when without artificial color or dye? | brown |
| 3.2 — Hair Color - Text Description | brown with red highlights and gray |
| 1.4 — Handedness | naturally left-handed- forced to write with rt. but am ambidextrous now |
| PGP Participant Survey | Responses submitted 9/30/2015 18:38:01. Show responses |
| Timestamp | 9/30/2015 18:38:01 |
| Year of birth | 1962 |
| Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. | some kind of connective tissue disorder, most likely Ehlers-Danlos of some type, with mitochondrial disease symptom overlap, severe Gastroparesis, history of early family deaths due to aneurysms etc. (maternal side), early heart attacks, cancers- also have a polymorphism on POLG (on 23andme), and for classic EDS (on 23andme). I also have metabolic acidosis with hypokalemia, and many polymorphisms on the RYR1 gene. |
| Sex/Gender | Female |
| Race/ethnicity | White |
| Maternal grandmother: Country of origin | United States |
| Paternal grandmother: Country of origin | Ireland |
| Paternal grandfather: Country of origin | United States |
| Maternal grandfather: Country of origin | Canada |
| 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 |
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? Yes
Enrollment History
| Participant ID: | huB10361 |
| Account created: | 2013-01-03 23:35:51 UTC |
| Eligibility screening: | 2013-01-03 23:39:18 UTC (passed v2) |
| Exam: | 2013-01-04 05:13:38 UTC (passed v20120430) |
| Consent: | 2015-08-06 14:33:06 UTC (passed v20150505) |
| Enrolled: | 2013-01-04 15:00:20 UTC |