human
I put it in my post! Theres a lot of screenshots lol, so beware, but its every test result Ive received most recently (September 11th).
gpt
Is it just your arms that are blue? And the right started before the left?QYes, just my arms. The left one started turning blue before the right one, its the blood oddity that started in the right. My lips used to also occasionally turn blue months and months ago, but now its strictly my arms.Sorry it took so long to get back to you things have been crazy on my end with covid. Ive been thinking a lot about your case over the last few days. I think its really strange that its only your upper extremities that are changing color. Please keep an eye out for color changes on your legs or other body parts. Typically when there is some form of differential cyanosis (one part is blue and others arent) we think of cardiac defects and if its one specific limb poor perfusion. But given your age and normal echo a cardiac defect causing your symptoms is unlikely. My next best guess would be something like pernicious anemia/B12 deficiency. This could explain your developing anemia and some of your pain symptoms. The blue coloring could be due to easy bruising related to it. However given that you have microcytic anemia (small red blood cells) and we typically see a macrocytic anemia (big red blood cells) with pernicious anemia/B12 deficiency. But that doesnt necessarily rule out that as a cause for you symptoms. To evaluate this you would start by checking b12, folate levels. Like other have mentioned you could have a hemoglobinopathy causing the cyanosis and anemia which would be more consistent with your microcytosis. However I would have expected this to show up before now, have some known family history of anemia or bleeding disorders, and/or have cyanosis or bruising on more of your body than just your arms. My best guess would be some kind of vasculitis causing vasospasm in your arms giving them a cyanotic appearance. The vasculitis could also be causing the pain you experience in your legs. Your developing microcytic anemia could be early anemia of chronic disease with maybe a pinch of iron deficiency thrown in. Id recommend asking for a ferritin and iron level to evaluate the anemia more. In terms of vasculitis workup, its a bit out of my wheelhouse so Id recommend considering seeing a rheumatologist for further evaluation. Those docs typically (or at least the ones I have worked with) are more of the safari guides than other docs and specialize in zebras.Tl;dr: Possibly a vasculitis, consider rheumatology. Also could be B12 deficiency/pernicious anemia or hemoglobinopathy but less likely due to nerd stuff as above.*edit: Like to add that you should probably also consider seeing a hematologist as well if you havent.
Thats been our understanding. Genetic testing is like the final puzzle piece once all of the other testing is done, and narrows down the list of possible causes. The geneticist said there was a list about 30 things long that he thinks it could be, but wanted further testing before divulging them, which I get.We have seen 4 childrens hospitals but the specialists span. Weve seen 1 endocrinologist, 1 allergist, 4 neurologists, 3 rheumatologists (our new rheumy actually suggested another opinion since she was out of ideas too), 1 GI, 2 geneticists, 1 orthopedic surgeon, and 1 ophthalmologist. They were supposed to be coordinating on a team that diagnosis rare diseases, but when she remained asymptomatic, we held off. We didnt want to put her through anything more if the tests would be inconclusive, under the direction of the team. But red flags have been popping up over the past few months, and theres been a lack of response or a shrug. The atrophy was so bad in the knee last year that she could barely walk. The muscle/tissues/whatever it was never grew back, and she cant walk more than a few minutes. PT is concerned that with the loss of knee support, the ankle atrophy is going to be detrimental. Which is how I ended up here. Her pediatrician finally got neuro to call us and shell now be getting ultrasounds of both legs.I wanted to take a list to her doctor and say could it be any of these?Shes spent most of her life in constant pain, in doctors offices, and its just killing us. I want her to have a normal life, and if she cant, I just want to make it as pain free as possible.
The most important thing I can recommend is finding a good PCP to make sure you have a medical home. That doctor should keep track of everything and keep the puzzle pieces together for you. I'm hoping that's already your pediatrician. From what you write, it seems like each specialist is stumped and is each trying to treat symptoms as they see it. Let's say we can't find what is going on, this is what we would be doing anyway. I say if things have been continuing to worsen, you may try another hospital system. I'm partial to Mayo, CHOP, and Children's National. On the other hand, you may have to consider that there isn't much to do but keep her comfortable. Palliative doctor's role are just that, keep people with chronic disease comfortable. That may include working with PTs, pain specialists, and whatever other tricks they have up there sleeves.