MYH9 Blood Disorder and MYH9 Related Disease

Hello,

My wife has a MYH9 blood disorder (May-Hegglin Anomaly, extremely low platelets) and in the past few years has developed what appear to be significant symptoms of MYH9 related disease.

She is currently in Stage 3b Chronic Kidney Disease as a result of the blood disorder and has been hospitalized multiple times over the past few years with dangerously low hemoglobin and platelets necessitating platelet transfusions. They originally thought it was due to menstrual bleeding but she underwent a uterine ablation and ultimately a hysterectomy, which they thought would fix the problem. The problems have not been fixed and she now takes a drug called Promacta and will be on it the rest of her life to keep her platelets up. They only problem that has gotten better since the surgery is the hemoglobin levels which still are low just not as critically low as they were (usually between 9-10 g/dl now, they were as low as in the sixes).

For the past two years she also has been dealing with intermittent nausea, blurry vision, dizziness, and extreme fatigue. We've seen every specialist and had countless CT scans, MRIs, blood work, urine tests, scans, you name it. The tests all come back abnormal for varying reasons (hyperkalemia, secondary hyperparathyroidism, vitamin B/D deficiency, calcified organs, and probably a ton more) but every doctor seems to agree that these results would not cause her symptoms and points a finger at another specialist who then says she is cleared from their perspective and no one can tell us why she is having these symptoms.

We recently got results from a brain MRI from last week that noted a hemorrhage and some other issues (dilated capillaries) however the impression said it was "unchanged since last MRI from July 2024." We asked the neurologist about this because we had read of a hemorrhage with the last MRI and no one mentioned it so we were confused saying it was unchanged. She basically just told us not to worry about it.

A good friend of mine works at a different hospital and was able to get us in quickly with a new neurologist because we feel like the last one wasn't really providing great care based on these recent results. He confirmed it was there for what he said was probably two years, which would coincide with when the current vision/dizziness/fatigue symptoms really ramped up. He ordered an "MRA" to look at the brain arteries but told us there was nothing to do from a neuro standpoint other than that test just to confirm nothing else is going on and told us to go back to her hematologist because he didn't think it would cause her symptoms.

Her hematologist said it is nothing to worry about unless her platelets get too low, but still didn't explain anything about how or why or when this happened and what we need to do to possibly prevent this or if it could be causing her symptoms.

We are really at a loss. The doctors are all supposedly top doctors (all within an Ivy League University Hospital) but they all seem to be brushing everything off. It really feels like they are missing the forest for the trees and we have no answers or ideas of what is going on or what we need to do. There is no question that she has these abnormal test results but no one can seem to pinpoint what is causing her symptoms.

Is there any place to go for like a complex doctor or team where someone or a team will look at everything together? It really is disheartening to keep having all these doctors just basically point fingers at where we should go only to be told they don't know and to go somewhere else. It also feels like these doctors aren't factoring in her blood disorder and are making their decisions or diagnoses/prognoses based on the average person, and not a person with a blood disorder where her baseline is ~10k platelets.

Any insight would be greatly appreciated. My wife is really struggling and it is so difficult to watch as she gets what feels like being brushed off by all these doctors. Thank you in advance.