Low T-Cell - Bone Marrow Biopsy

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 🙁

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.

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, you’ve 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 wouldn’t 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 it’s 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 it’s 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 panic…

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 I’ve given you. And staying as distracted as possible doing things you enjoy. That’s 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 you’re afraid that you’re going to have a heart attack or that something else is going on. It’s horrible feeling of sense of doom and I’m so sorry you’re experiencing all of this. But in all the time you’ve had it, nothing dire has actually happened which is a positive thing! You’re very brave and strong to be handling this on your own. But don’t be afraid to reach out to friends and coworkers just so they know to watch out for you too. That way you’re really not alone.

Are you still able to work? Are you able to concentrate on the job?

Hi @loribmt, you are so kind - thank you for the nice words, really. It always help me. I have had a mix of emotions these days - Feeling of missing out of my life, that my career will not be more that I have right now, that I can’t go out and dance, do sports, plan a trip ahead, or eventually find a partner. Even if I have very supportive friends and family I feel very much alone. The infectiologist has not contacted me yet - Actually the group of rare disease, it’s the same which was already analyzing my genome, so no need. I did find another one a few hours away, basically a group of researcher who focus on reanalyzing it. They reply saying they will be in touch by that only in 30% of the case they can find an answer. Im continuing with my cardiologist and psychiatrist appointment.I’ve also ask the archive of my blood test in Canada, so it should come to me in the next 3 weeks and maybe it gives me clarity in when that happen. One thing we know is it was between 2008 and 2016 as my T-cell were OK in 2008 and bad in 2016. It doesn’t look like I had EBV, at least the doctor deny that as the PCR is always negative but antigen positive. In any case this would not affect that bad the bone marrow - Maybe its two things? In the meantime I’m going to slow yoga and sounds bath and trying to go a bit to the office so I’m distracted. Your exercises helped too. I’ve been experiencing more severe symptoms since I started the AIP diet and probiotics, strange but I will keep going until December 1st. I have to say this and no alcohol doesn’t help the social life 😂 but that’s for a good reason! I’ll keep going.

Hi Maria, I wish I could be a fairy god mother and wave my magic wand to have all of your symptoms, your worries and all the uncertainty just disappear. When you’re young and have your whole life in front of you, all of this just seems insurmountable and so unfair.

I am concerned that since you started this anti-inflammatory diet and the probiotics, you said you’re experiencing more severe symptoms. Was this diet something your doctor suggested for you or is this a decision you started on your own? Abrupt changes in our diets can be disruptive too. I know this is a healthy diet plan so I’m not as concerned about that making your symptoms worse but I am wondering about the probiotics in excess.

In my unprofessional, but motherly opinion, stop the extra probiotics for a week and see if that makes a difference. We can actually take too many probiotics which can throw off the delicate balance in our guts. Some of the side effects of too much probiotic usage are:
Diarrhea
Constipation
Nausea
Stomach cramps
Loss of appetite
Sleep disruption
Lower energy levels
***Disrupted immune function***

Are you still on the antibiotics? If so, I get the wanting to take the probiotics but yogurt will fill the bill for that upset. What symptoms are worse for you? Your heart palpitations? your throat? fatigue?

I’m not a doctor and don’t want to contradict what your physician has said, but if you have antigens for EBV you had the virus at some time in your past and it’s a known protagonist for creating autoimmune diseases. That’s where our conversation started in March of 2021. That you had low T-cells and had tested positive for EBV with a throat swab and the doctors felt it was a reactivation of the virus…which can happen.
I know you like to research so I found some information regarding the CD8+ T-cell deficiency.

CD8+ T cell Deficiency from the National Institute of Health.
~https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3270541/

~https://www.hindawi.com/journals/ad/2012/189096/

EBV info…
~https://labs.selfdecode.com/blog/epstein-barr-virus-tests/

Information on CD8+ T-cell deficiency
https://selfhack.com/blog/homing-fundamenal-cause-epstein-barr-reactivation/

The slow yoga and the Sound bath meditation sound like wonderful self-help ideas to help bring some inner peace! I know it’s really a challenge to keep propelling forward, Maria. But you have a positive attitude and you’re very strong. You’ll get through this by learning to adapt to the changes in your life. Doesn’t mean you’re giving up, it means you’re resilient and possess an invincible spirit. Ha, I get the no alcohol…grape juice just doesn’t cut it sometimes, does it. LOL. That’s as close to wine as I get too. 🙂

Hi @loribmt , I also very wish you could be a fairy god mother and wave your magic hand to have all of my symptoms gone - but you're doing a lot already! I read through the link, thank you! It does mention CD8 only not CD4, and I am still confused why doctors do not seem to think at all about EBV since the PCR was always negative even when my antibody were positive for reactivation. I am still waiting to get all my blood tests so I can have a narrow timing in which years it happened. I would really like to be a spy and understand what is causing my heart distress and if that's linked to my current illness. On the symptoms side, the heart is the same, pretty bad moments that are frightening, after a few steps - it's so high and the throat/stomach feels tight. This is soooo scary and I feel like I will die and my heart stop, I cant explain. On the probiotic side, I have started it a week ago and it makes my stomach and salivary gland a bit acting might be that it's killing the bad bugs? Anyway, thank you for the encouraging words, I hope I will get through this, you are the strong one! I find it extremely hard to be alone. On the good thing, tomorrow I have my energy healing / therapy session and that would help, I ordered sexy compression socks (in acase its POTS) and will try to enjoy a bit the weekend while taking ativan :S Grape juice is a good alternative hehehe but its definitely not like having a great glass of wine - were you a wine lover beforehands? I am impress by you and how resilient you are.

Good morning, Maria. I know you’re going to get through all of this!!! ☺️ There’s a little inspirational message I read early on in my journey: “We never know how strong we are until strong is the only option.” That message, along with a couple others still resonate with me and empower me any time I’m feeling a little less than capable.
It’s so important to continue to feel hopeful and to have a positive attitude when things look bleak. They usually never turn out as bad as we imagine! It’s amazing what that positivity can do when we start looking for that glimmer of light at the end of the tunnel and the first thought isn’t that of a train headlight speeding towards us. 🙂
I know you possess this ability of strength and resilience too! I pick this up from your writing. You still have a sense of humor and you’ve not given up. That’s a fighter.

So, put on those sexy compression socks and see if they help keep you vertical. 🙂. I have to wear those socks too, if I’m in any situation that requires lengthy standing. Mine are a pretty cool pink…sporty. Then a black dressier pair and some in blue. They really do work!

Wine…yes, I loved a glass of wine during ‘happy hour’ before my husband and I have dinner. There’s still a happy hour but mine doesn’t involve alcohol…just ‘wine before it’s time.’ LOL. Though I did have 2 ounces of an incredible white wine from France that my friend served at dinner the other night. It was served in a wine glass over a huge amount of ice. So it was pretty diluted but I could appreciate the taste. My walk on the wild side. Haha.
Hope you’re having a good weekend. Hugs.

Hi @loribmt

Sorry for not replying! I swear I was sure I did. I just really feel like the need to share with you what had been going on or maybe get some new ideas from members. Things have been very difficult…I hope you are well nevertheless.

I did a Cardiac MRT, it was all fine. Therefore, my infectiologist wanted to do an exam where they go inside the heart to check the rhythm, but the cardiologist disagreed and put me again for a 2 days holter. They said that its quite invasive and if there are no arrhythmia we should not. Im going back tomorrow for the results and I’m pretty sure they will say it’s OK which lead me back to the start - what are those crazy heart feelings where it feels like going slow and then fast everyday all the time? It feels like it’s weak and will just stop - I really feel that i’ll die. What can it be then if the heart is healthy apparently? There are no sign of myocardia or inflammation and POTS doesn’t seem likely as my symptoms are permanent. Also I have quite some pain to my throat salivary glands, tongue and stomach more than ever. I want to push my infectiologist to give me antiviral - after all, I have very low CD4/CD8. Can it be a crazy case of HSV-1? Or other infection? And that the bone marrow failure is unrelated and just happen after being very sick after traveling 8 years ago? I realized the bone marrow defect happen sometimes during the next 2 years after being sick with tropical disease : my blood test were back to normal right after the sickness but 2 years after T-Cell were very low (and kept decreasing over the years). Unfortunately I do not have blood test in between so I can’t know for a fact.

Additionally to the infectiologist, I’m seeing a POTS specialist on Tuesday, Im waiting to get a rheumatologist appointment in 3 weeks (again), and I found a place to re-analyzed my DNA through an artificial intelligence platform so that should be « fast » and they will give me the top variants possible to cause my issue, which might be giving some answers even if where I did it in the past was really good. Also in December I will go to another city to re-do a new Whole Genome Sequencing from scratch.

This is becoming a real nightmare and I almost do not go out of the house and take Ativan everyday. Im trying to take you wise advice, but this is too long now, I can’t continue like this watching my life go and struggling to work or do anything. Im trying very hard to keep it up but that’s not easy now xx

Hi, @mariabrat I was so in hopes that the next time I heard from you there would be some advancement in to finding an answer to what’s going on in your body! I’m so, so sorry to hear just the opposite is happening.

That ongoing heart situation is certainly troubling. I can see the point of the cardiologist not to do anything invasive if not necessary. That is another risk. So finger’s crossed that wearing the Holter will reveal some rhythm issues, leading to a treatment plan for you!

One thing you mentioned that I wasn’t aware of, was the tropical disease. I guess it was briefly mention in your first posting about being tested for one, but I don’t remember you telling me that you actually were ill at one time. Have you brought this up to your infection specialist? Tropical diseases can manifest themselves many years later after an initial illness including swollen glands, enlarged spleen, high inflammation markers and heart issues. I know this is gross to talk about but have you been checked for potential a parasitic infection?

So many viruses, including Covid and EBV, which you’ve had can create chronic illness and side effects. I think I gave you links before to our chronic Covid discussions. There are many members in our forum who have undiagnosed situations too and growing frustration for not being able to find answers. It is heartbreaking to read the stories.

Maria, my heart just aches for you knowing you’re so miserable and how this is desperately impacting your quality of life. It would be an enormous request for anyone to remain upbeat and positive through this crisis. But you’re doing an amazing job with your effort. ☺️ I wish there was something I could do to bring relief and peace of mind. The encouraging thing is that your medical teams are working diligently to unravel this mystery and are taking you seriously.

Sending you positive thoughts and love… Keep me posted ok?

I went to the cardiologist and they saw 1 Type II SA block during the night - which when I google seems very serious and I am very anxious about it. They said everything looks fine and they do not recommend the procedure but they can't be 100% sure so if I really want to do it they will.

Hi @loribmt

Thanks for your positive energy.

The infectiologist did test all nasty tropical diseases and it was all negative - just saw I had a few herpes once’s in the past (like CMV etc).

I went to the cardiologist and they saw 1 Type II SA block during the night – which when I google seems very serious and I am very anxious about it. They said everything looks fine and they do not recommend the procedure but they can't be 100% sure so if I really want to do it they will.

Tomorrow I’ll go see the POTS doctor - maybe there is an answer there. Otherwise, I begged my doctor to try antiviral…