genetic testing

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

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

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

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

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?