New Mutations and a Broken Chromosome

Well, this is not what I thought I would be writing about 208 days after George’s bone marrow transplant. We are supposed to be on the other side of this disease. But his engraftment has been struggling and when we saw Dr. Loren on January 26th, we got some surprising news.

George’s early January appointment with Dr. Loren was canceled due to an untimely visit from Miss Rona. Early in January, both George and I contracted COVID-19 after dodging her for three years. We were still taking precautions for the most part, but perhaps we let our guard down somewhere along the way. We both suspect a dinner at a crowded restaurant in Cape May at the end of December, but there really is no way to know where we got it.

My symptoms lasted about a week. But George’s home health nurse came on Monday the 13th and was concerned with his breathing. She took his pulse oxygen and it was 88%, which was alarming. So she called the oncology team at UPenn and the doctor told George “I don’t have a problem with you going to the nearest E.R.” So he did..and was admitted for a week, given oxygen and a course of remdesivir as well as antibiotics. So, his appointment scheduled with Dr. Loren that week was not going to happen.

Communicating via phone and text, as I was not allowed to visit George while he was hospitalized in the isolation unit. He sent me this photo.

When he was finally released, a new appointment was scheduled and we saw Dr. Loren on January 26th for the first time since early December. Because of George’s recent positive COVID status, everyone who came into the room was decked out in their PPE – gowns, gloves, and goggles.

Dr. Loren began the meeting by saying that there really wasn’t much to say, she just wanted to reestablish our regular meeting schedule and touch base. Ok, sounds good.

Then she said, oh…by the way, we finally received the more detailed molecular report from your November bone marrow biopsy and it seems you have a couple of new mutations and your 7th chromosome has a part missing.

Specifically, what his lab report said was “an interstitial deletion on the long arm of chromosome 7, likely from band 7q31 to 7q36 loci are recommended to clarify whether this deletion involves the commonly deleted region on 7q31 seen in myeloid neoplasms.” Google says that myeloid neoplasms are “a type of disease in which the bone marrow makes too many red blood cells, platelets, or certain white blood cells.” After reading that, you know as much as we do! We are trying to figure out the implications of this news on our own because Dr. Loren didn’t give us much information when we asked.

I did read that studies have suggested that some genes on chromosome 7 may play a critical roles in controlling the growth and division of cells. Without these genes, cells could grow and divide too quickly or in an uncontrolled way, resulting in a cancerous tumor. Sounds like leukemia with the FLT3 mutation that George was initially diagnosed with to me.

The report also stated that “it is unclear if the abnormal cells detected in the study represent the recipient or the donor.” So George could have gotten this crap from his bone marrow donor?? Seems unlikely. But still….I also found an academic research study that suggested that “detection of del(7q) in patients following cytotoxic therapies is highly suggestive of an emerging therapy-related myeloid neoplasm.” George had cytotoxic therapy before his transplant (chemotherapy). Did that cause this damage? We don’t know!

As for the new mutations, Dr. Loren said she didn’t know if they were good or bad, but it is concerning that they are new and present.

So, George will undergo another bone marrow biopsy next week.

Dr. Loren said that the response to these new findings would be a DLI (infusion of donor cells) and the fact that he already had that done in December is very encouraging and that “we caught it early.” Caught what? Arrrghhhh!

Dr. Loren also mentioned a possible round of chemotherapy depending on what they find. She also mentioned that a second bone marrow transplant may be an option, but we are definitely not there yet. I can’t tell you how disheartening that idea is. George seems less affected than me and I guess that is a good thing.

But, we are trying to stay positive. George’s blood work looks very good and other than the lingering cough he has and the oxygen, he feels good. So, we are happy about that and continue to focus on the positive and take one day at a time. This could be a whole lot of nothing, or it could be awful. Time will tell.

George and his big-ass, loud oxygen making machine.

At this visit with Dr. Loren, labs were taken and one of the tests will be to check his chimerism levels. We are hoping his donor cell infusion has boosted his numbers and he will be nearer 100% donor cells. It will take at least a week for those results to come in.

We are grateful to you, the reader, for your interest, support and encouragement. I mainly write this blog as a journal for myself and to inform family and friends of what’s going on with George. Thanks for following along and your well wishes. They mean so very much.

5 responses to “New Mutations and a Broken Chromosome”

  1. trinchen87e4efd3e4b1 Avatar

    Oh no!! I hope its nothing but a fluke!

    On Sat, Jan 28, 2023 at 09:33 Diagnosis: Acute Myeloid Leukemia (AML). A

    Liked by 1 person

  2. We pray for George’s health and your peace of mind daily.

    Liked by 1 person

    1. Thank you so much. We truly appreciate it!


  3. So sorry to read this, Mary. It’s a tough read and for me, I get upset and frustrated, too. I’m hoping and praying for George’s healing regularly. God’s strength and comfort to you and George!

    Liked by 1 person

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