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Low T-Cell - Bone Marrow Biopsy
Blood Cancers & Disorders | Last Active: Nov 15, 2022 | Replies (162)Comment receiving replies
Hi @loribmt ,
Today was a very emotional day. I finally got my results on genome sequencing. but they say NOTHING. This means :
1. Maybe it is not genetic and has other causes.
2. It is genetic - but we don't yet know the gene-disease causation. Of 20,000 genes in our DNA as of now we only know diseases for 4000-5000 of those genes. Every year new disease-gene associations are being published. So in the future the knowledge we have will change and the causative variant could be identified in a new disease gene.
3. It is genetic - but it is in a region of the genome that is not yet well understood or taken into analysis (called the non-coding regions because they do not give instructions to make a protein but only are offering some support and regulatory stuff) but we don't understand yet how and why they can affect protein due to lack of knowledge today, so we cannot look there as we cannot interpret it with the knowledge we have today.
From my understanding I could potentially :
1. Reach out with my raw data to the expert group working on finding new candidate genes and share your case and data with them
2. Ask the immunologist if they will automatically reanalyze my data every year or every few years with new information and updated pipeline
I feel beyond lost, sad, and frustrated. I am losing hope to get better and come back to myself. My immunologist said "continue taking antibiotics" and if you have a fever go to the emergency asap mentioning your conditions. Now I am wondering, should I seek more specialists in autoimmune disease? should I push to make a trial with antiviral? Should I push to make a salivary gland biopsy which was initially a thought? I do not know where to look and how to help myself. HELP đ
I wrote an email to my infectiologist, to see what she wants to do and if she still wants me to see the other immunologist/do other test.
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Maria, dear heart, I can feel your disappointment and desperation through the computer and I really wish I had the answers for you. I know you had so much faith in this genome test to provide the answers but it may not be a genetic issue.
Honestly, I would stay with the plan that your infectiologist or was it your immunologist, is trying to map out for you with the rare disease group. They may find some value in the genome test but let them do a work up first.
Remember, youâve had two very virulent viruses in the past which can have long term side effects. EBV and Covid-19/variant. A number of your symptoms parallel long-haul Covid patients and Epstein-Barr patients. I wouldnât push for a salivary gland biopsy at this time.
The Ativan should be helping you with the anxiety you feel from all of your symptoms. I know you dread taking it. If itâs not helping and your fear of taking it is worse than living without it, ask to switch medications. I think having some anti anxiety med right now is the right thing to do to take the edge off your nervousness. My daughter takes Prozac and itâs been very beneficial for her. Being in a doctorate program in a university took its toll. No matter how many therapy sessions she took on mindfulness and meditation, in the end, the Prozac helped the most. She also had EBV and we often wonder if that causes some of her episodes of exhaustion and panicâŠ
I hope you hear back from your infectiologist soon to get some direction. In the meantime, Maria, try to do some calming breathing exercises like Iâve given you. And staying as distracted as possible doing things you enjoy. Thatâs hard to do when your mind wants to focus on your health. But it can be overcome with practice and changing focus. I also
know youâre afraid that youâre going to have a heart attack or that something else is going on. Itâs horrible feeling of sense of doom and Iâm so sorry youâre experiencing all of this. But in all the time youâve had it, nothing dire has actually happened which is a positive thing! Youâre very brave and strong to be handling this on your own. But donât be afraid to reach out to friends and coworkers just so they know to watch out for you too. That way youâre really not alone.
Are you still able to work? Are you able to concentrate on the job?