My Genes For Good Raw Genetic Files are *HERE*
Variant Effect Predictor RESULTS from ensembl.org
"WARNING: Unable to assign consequence type on line 108212 for NM_173471.3 Too many variants to be displayed on the location page"
*Please note I have removed the PROMETHEASE tables because more than 13 discrepancies have been found between the alleles on their report and my raw data. Until they respond and resolve their analysis glitch, I cannot recommend the site.
I’ve decided to make my Genes For Good test results Open Access with the intention of qualifying for other genetic research programs, further genetic testing, and finding doctors who will take my children & I as patients. This test does not show all mutations in my DNA, but there are enough candidate polymorphisms that match my diagnosed conditions and undiagnosed symptoms, to implicate the need for further testing. I have done a preliminary analysis of some of my SNPs and need professional help to corroborate my findings; unfortunately some analysis sites are not as accurate as others. I will donate DNA samples to any lab or researcher that will analyze them and provide results. The preliminary results from Genes for Good research (bit.ly/Genes4G) show several candidate protein-coding gene variants of interest, including possible vCJD or sCJD Prion Disease that I was exposed to in the 80’s & 90’s in England & Germany. I am past the point of needing more genetic counseling, I need answers. And I need to know if I’m contagious so I can take effective action and warn those who were exposed to me.
With my life-long history of mystery chronic illnesses and long list of diagnosed conditions, family medical history, and current symptoms, I am interested in participating in studies involving: Prion Disease, Ehlers-Danlos & other Connective Tissue Disorders, Protein-coding mutations, Hemophilia, Pheochromocytoma, Autoimmune Disorders, metabolic & mitochondrial disorders, Blood & endocrine disorders, Autism, Dysautonomia & POTS, Inflammatory Bowel Disease & Gastroparesis, Immunodeficiency, Retrovirus heritability, Vaccine Reaction susceptibility, Traumatic Brain Injury, neurodegenerative disorders, alcohol intolerance, adrenal disease, MCAS, and any other risk factors indicated by my SNPs.
Genomics and epigenetics have the potential to help millions of patients with suspected genetic illnesses by improving diagnostic techniques. Finding the causal links of disease based on gene mutations and environmental exposures is the first step towards earlier diagnosis, treatment, and clues for a cure. It often takes scientists many years to gather enough data to prove the connections between genotypes and phenotypes, especially for rare conditions, because they need patients to study and the funding to do it. Concerned patients used to be able to easily access a DNA Test Kit from home and have the results interpreted and presented in an organized manner, in order to facilitate the chance for earlier diagnosis and improved prognosis.
Thanks to FDA regulations, even with medical training it is difficult for patients to analyze genetic results from research studies on their own, and are forced to find ways to afford expensive testing to find answers. Some companies have reduced costs, but even $200 is too expensive for families already struggling to survive with little or no income and 4 members with chronic illnesses. The powers that be over at the FDA do not think Americans should have the right or responsibility to access their own health information, know their genetic risks, or make informed healthcare decisions based on that information, without a physician ordering and genetic counselor overseeing the process. That leaves poor Medicaid and Medicare patients with rare medical conditions at the mercy of their PCP to make life or death decisions based on their experience with rare disorders. Patients often wait decades for a diagnosis, millions of dollars wasted on unnecessary appointments, procedures, and prescriptions, while their physician makes an educated guess based on subjective descriptions of symptoms. Many commit suicide from pain & hopelessness before they ever find an answer.
I’ve spent 3 decades trying to get over 100 doctors in the US & Europe to listen, repeatedly having my strange list of symptoms dismissed and put on medications that I would have bad reactions to, only to end up with my 3 kids and I clinically diagnosed with THREE rare medical conditions that we weren’t diagnostically tested for! Ehlers-Danlos Hypermobility Syndrome, Dysautonomia, and Gastroparesis were assumed and my children and I were refused genetic testing to rule out other conditions we meet criteria for.
With generations of family history on BOTH sides of Autoimmune Disorders, rare Cancers, and sudden vascular deaths (SIDS, aortic dissection, strokes, aneurysms, and hemophilia), I have been asking doctors for 6 years to order genetic testing for my family, but have always been refused. I was told by the first Geneticist that there was NO test for Ehlers-Danlos, and by the last Geneticist, “It is not cost effective to test for a disorder with no treatment or cure.” I disagree…to confirm or rule out other conditions is priceless in my perspective for my children to survive.
Ehlers-Danlos is just 1 in over 200 Connective Tissue Disorders, where more than 35 have overlapping symptoms. There are tests for at least 15 genes associated in scientific literature with EDS, and hypermobility is a symptom of most types. Knowing what medical condition you have can change the course of treatment, and if diagnosed early, can save lives. Some EDS patients find after genetic testing that they have a different protein-coding mutation or enzyme deficiency that is treatable, while others find they have different conditions altogether.
I have had over 40 separate diagnosed conditions, and my children currently each average 20 conditions, all assumed to be associated with the disorder 2 doctors ASSUMED we have based on a few symptoms. Most of the diagnoses have been made WITHOUT testing! We see 9 specialists, but most of them do not understand how a Connective Tissue Disorder effects patients clinically; they do not follow recommendations from experts that other major teaching hospitals have published. When I’ve questioned doctors’ lack of experience with our diagnosed conditions, or refused to comply with prescriptions based on side effects, risks, or unapproved off-label uses, we have been dismissed as patients. Our records are never completely transferred from one state to the next, and that hinders our progress more when HIPPA is used as an excuse not to transfer 3rd party records. There is ONE hospital here that treats pediatric Neurology & GI patients; when they can’t or simply won’t help, there isn’t anywhere else to go. We are stuck.
Some doctors have suggested we are misdiagnosed due to symptoms of other diseases, but when I filed complaints about not being tested or treated properly the hospital had the employees I filed complaints against call me to try to “work things out” by complying with their recommendations! Due to Medicaid referral requirements we cannot get a second opinion or referral to other specialists when our PCPs do not agree, and they base their decisions on the recommendations of doctors who don’t help us! If it wasn’t for 2 of the providers, we would have no hope, but they aren’t allowed to order referrals or testing not requested by the PCP. It’s a viscous cycle that needs to change before negligence, egotism, and Medicaid waste & abuse risks our lives further; we will not be pharmaceutical guinea pigs any longer!
As our health deteriorates we are trapped in Idaho at the mercy of these same doctors who have halted the process of getting referrals approved to Seattle for the 2nd year in a row, and keep prescribing off-label uses of medications that have nasty side effects and make us worse. I’ve decided to go public with my genetic test results in hopes to qualify for further testing, research, or Medicaid intervention with our situation. Our rights are being violated, services have been denied, and Medicaid is being blamed despite St. Luke’s doctors never requesting pre-authorizations for any diagnostic or procedure services I have requested. I am tired of being lied to, hearing “Medicaid won’t cover that,” and having my family suffer in pain while our myriad symptoms and chronic pain are dismissed. I will NOT lay down and die here or lose my children to incompetence!
The first step in diagnosis is identification, then we can move towards possibilities of treatments, then clues for a cure…for ANY disease. There may not be hope for my recovery, but there may be for my kids. With advancing technology like CRISPR gene editing, hope is on the horizon for others and I want to contribute to progress by proving genotype-phenotype associations. Please share my story with others that may know how to connect with genetic researchers and CTD experts that may help us. If you know of any research programs involving testing, please contact me. It’s all I can do now to find hope. Thank you.
~Star Squires #TestDontGuess we have a #RightToKnow #ZebrasOnParade