genetic testing

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    Finding out I have the CDH1 Gene Mutation

    In December, I finally gotten a GYN to listen to my desire for a hysterectomy. But before I can move forward to that, I was recommended to get genetic testing done. I have never been offered that before in all the years I've mentioned my quite extensive family history of cancers.

    It took a while, but in July I got my results. I had the rare CDH1 Gene Mutation. This mutation increases my risk of Hereditary Diffuse Gastric Cancer to 85% by the age of 80 and my Lobular Breast Cancer risk to 30-35%. There is a slight risk increase of Ovarian Cancer as well. That was a lot to take in, but I wasn't surprised. I am already chronically ill managing multiple conditions and that was a huge life change as is. However, this would be a whole new lifestyle change ahead on top of my already busy job of dealing with my already poor health.

    These last couple months has been gathering information on surveillance and preventative surgeries. It's been decided that I will get a Total Gastrectomy (complete removal of the stomach) relatively soon, HOPEFULLY get my hysterectomy after I recover from that, and then do surveillance on the breast care side of things. Not only that, but I had to tell my (toxic) father whom I live with all this news since I completely rely on him for support.

    Here's to hoping that this new journey improves my quality of life in both the short and long term. And here's to trying to document my journey of managing new health challenges on top of already being chronically ill.#chd1 #HereditaryDiffuseGastricCancer #GeneticTesting

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    Finally got my referral to the EDS specialist/geneticist. I’m trying to fill out the paperwork they sent me which is 1/2 family history. I just messaged my mom with a list of people I needed help with and she called me. During the call she flat out told me she doesn’t agree with what I’m doing (genetic testing/seeing a geneticist) and was resistant to provide any info. She told me she didn’t see the point because it wouldn’t change my treatment. Yes, there’s a chance nothing changes, but there’s also the chance they uncover something. Even if I just get a diagnosis and my treatment doesn’t change it still makes my medical team informed about what’s going on.

    I have spent 3 years working on a degree in genetics to do the same exact work the people I’m going to see are doing.... I feel let down and like she doesn’t support me. I’ve done my research on this both academically and personally, I know the risks/possible consequences. I know it’s a touchy field with lots of controversy; that has been drilled into my head since Day 1 of classes.

    I just don’t know what to do about either situation. I’m currently stuck in a wrist and thumb brace on my dominant hand because I can’t keep them where they belong. That’s not normal! I guess I just want to know I’m not alone and want someone to understand.

    #EhlersDanlosSyndrome #HypermobileTypeEDS #Support #GeneticTesting #specialist #Undiagnosed #Anxiety #Depression #ChronicPain

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    Visit website for recently discovered PAN Vasculitis.

    This type of Vasculitis is thought to affect 1/3 of those affected by PAN Vasculitis. The genetic links to what is termed DADA2 were discovered in 2014. Very interesting story about the discovery and the hundreds of patients (most young children), families, physicians, and researchers internationally affected. There is much interest that other forms of Vasculitis may be genetic as well. New cases of DADA2 are discovered regularly.

    This new field may be of interest to many current Vasculitis patients and medical professionals. Read the story of how a Nashville doctor discovered that two of his daughters are affected and his subsequent work in medicine and advocacy around the world. Read about the interesting patients, families and researchers involved and how they advocate for the benefit of all. This is inspirational for all of us suffering with rare diseases.

    New research appears often - symptoms range widely as do the age groups and types of genetic abnormalities affected. There are both early onset and late onset disease.

    The website for dada2.org is http://www.dada2.org. There is a group for patients and families on Facebook. #DADA2 , #RareDiseases , #Vasculitis , #GeneticDisorder , #GeneticCounselors , #GeneticDisorder , #GeneticTesting , #Rheumatology , #PolyarteritisNodosa , #PediatricStroke , #PediatricHypertension , #PediatricLiverDisease , #ADAdeficiency , # adenosine deaminase2 deficiency

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    My daughter’s paediatrician has no concerns my granddaughter has Down syndrome - will not make referral to a geneticist although recommended at birth #DownSyndrome #Genetics #Referral

    Right after the birth of my first precious granddaughter was born-the doctor recommended my daughter see a geneticist as the area above nose between her eyebrows was flat. As she grows so do my thoughts that she has Down syndrome-but when my daughter asked her paediatrician - response was she doesn’t need one. Physically I see many features of Down syndrome but don’t want to alarm my daughter
    I know a diagnosis will not change the love we have for her and the incredible joy she brings us. But I think early diagnosis will lead to early intervention.
    #DownSyndromeDiagnosis
    #GeneticCounseling
    #GeneticTesting

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    Has anyone here had IVF due to being carrier of genetic disorder/have child with genetic disorder? Just want to know thoughts/experiences. Thanks!

    #RareDiseases #RareDisorder #GeneticDisorders #GeneticTesting #IVF

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    Has anyone done GeneSight?

    I had a friend who did it for her son. She says the results were spot on. Anyone have any experience with it? I want to do it but I will probably end up paying big bucks because I have Kaiser and they won’t administer the test. #GeneticTesting #Depression

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    Does anyone else think a Bipolar dx is a copout?

    It seems as though the only ones receiving this dx are women. And if the docs/therapists cared to dig a little deeper, they would find something very different entirely. Perhaps Complex-PTSD, extreme neglect, abuse, homelessness, general lack of safety and sleeplessness perhaps. My point is, Swinging emotions can be caused my many things. Rubber stamping a Bipolar dX and prescribing Latuda just doesn’t get to the heart of the matter. And it just might make it worse if it is not the appropriate dX. And why aren’t Men getting this dX at the same rate as women? Culture? Lack of males seeking help? Hormonal imbalances? Psychiatry will be considered a sham science until all of these questions are answered and not just about Bipolar but about all the dX’s. #BipolarDisorder #GeneticTesting

    7 comments
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    #EDS #GeneticTesting #negative #IsThisBadOrGood

    I got my genetic testing for ehlers danlos syndrome back. It all came back negative. I'm not sure how I feel about this. Are there any #EDSers out there?

    4 comments