Noah and I were talking tonight about how much his medical case has evolved over the years — thank y ou very much :)

Noah and I were talking about how much his case has evolved over the years, and as time passes we continue to learn more, which sheds new light in different directions.

Specially, we were talking about Dr. Bute’s report from seeing Noah in August 2018, then Noah’s lab results from Jan 2019 that clearly show an immune dysfunction — it might not be a glaring dramatic dysfunction, but it’s a dysfunction nevertheless.

And that lead us to talking about how when new information comes along, it naturally changes how we approach any medical case.

Noah had a very good point — the frustrating thing about his case, is that the best evidence is seen through observation (like the ER doctor who thought Noah looked totally healthy, but then Noah had a positive flu culture—I guarantee that ER doctor now understands both the complexity and the severity of Noah’s immune deficiency),

so the doctors who don’t see him as often don’t have as much information as the doctor who do.

I told Noah to never give up hope, there are great doctors who listen, doctors who will accept the facts as you present them of what happened to you at home, etc, and not dismiss them, to keep faith and one day the answer will get there 🙂

Thank you for being there for Noah for so many years. As his time with you comes closer and closer to a close, please know how grateful I am for the care and attention you’ve given him.

Warmly,
Tara

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The change in my sweat just writing the email—

Just as I hit send, I got hit with another wave of sweat—it’s literally dripping off my face. Yesterday and today are the worst it’s been so far —

I’ve been through a lot over the years, and this period is turning out to be one of the worst. This fatigue is like nothing I’ve ever felt — yesterday Noah was home sick from school, and he spent most of the day getting medications for me, hanging medicine, bringing me food, etc. All I could do was force myself up to go to the bathroom, and that wasn’t easy….

My blood pressure is pretty low (92/56), but while I was feel crappy when my bp is in the low 90s, and I never felt this bad before —

If I thought they could do something for me in the hospital, I would be there that’s how bad this is, but I don’t think there’s anything that can be done for me there…I know I need some imaging studies, maybe that will give some answers (?) Or maybe I’ve gotten a weird virus? Or could this all be menopause? 🤔

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Vicious cycle of hot sweats

When I come see you next week, I really need to talk about these hot sweats…they seem to be getting better last week for a couple of days, then they got worse, and this last few days have been super bad.

I get really hot and sweaty, then I get really cold, and for some reason I’m super fatigued — like can’t get out of bed fatigued. I was supposed to go to Cedars this morning and do some bloodwork, but it’s gonna have to wait until Monday…

I hope you’re doing well 🙂

Warmly,
Tara

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Hot flashes are super intense and I get really sweaty

Is there anything we can do for hot flashes? Can they be related to my blood pressure problems?

They keep waking me up so I’m having problems sleeping too. A flash will hit, I’ll get drenched, then I’ll have the worst chill I’ve ever had, all the way down to my bone. Aunt Shannon bought me an electric blanket, which is great for the chill part, but the hot flashes of course I have to throw it off of me…

Then Cookie jumps on and licks me, lol. She can’t get enough of this Tara sweat 😬.

I’ll ask Dr. Pitchon the next time I see him, but please ask around if there are any blood tests I should do, to make sure these are menapausal and not something else —

(If my blood pressure gets worse and I end up in the hospital for a few days, I guess we can all do it all there too.)

I can barely walk around anyway right now, but these hot flashes would be too embarrassing to go into public anyway…when Nurse Joseph was here last night helping Noah, I had a bad one right in front of him, and he was like “wow”, and started recommending doing some bloodwork to get hormone levels, some Jamaican herbs and a bunch of fluids and vitamin B for my blood pressure…

I’ve never had anything like this. In fact I rarely sweat, like, ever — Noah and I talk about how we rarely sweat —and now it’s like multiple times an hour 😢

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David Noah getting his blood drawn today :)

Noah had a lot of bloodwork to be drawn today. A lot of new tests as well, it will be interesting to see what the results are.

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Noah — this is a great case study about the importance of staying with doctors who understand your c ase as well as advocating for yourself, no matter what anyone says.

Noah,

I just read this case study about a patient with a rare disorder, then ran into doctors who didn’t believe him…

The doctor who writes this story even says “always listen to your patient”, but in our current ‘evidence based medicine’ climate, many physicians have forgotten the first rule of medicine — the patient him or herself is the ultimate evidence.

You’re going to have a great life and accomplish many interesting things, especially with treatments available like IVIg and antibiotics,

but you must trust your own instincts, and develop close relationships with doctors you trust and who trust you.

As much as it’s made me mad and frustrated what happened with Dr. Butte, in other ways I’m glad I lived long enough to help guide you through an experience like this. I couldn’t even list the number of doctors who treated me the way Dr. Butte treated you (ie, dismissing the story of your atypical presentation with the flu, not to mention your countless other infections, severe constipation, etc),

but unfortunately with a rare disorder learning how to handle these types of doctors is very important. If there was anything of value to take with you, take it, but otherwise stay away.

We’re lucky to have a rare disease that can be managed with medical care, even if it’s a lot of medical care, some people aren’t so lucky.

But one of the most important lessons to learn, is to trust your own instincts, build positive relationships with a couple of doctors (you don’t need hundreds — one strong advocate will work wonders)

and learn as much as you can about your own disease, to help you communicate when you do encounter new physicians.

I love you so much Noah, you have so much to offer the world. Your brilliance and kindness amazes me every day.

Medicine will get there — they’re learning more about the immune system every day. You will see the answer in your lifetime. In the meantime, build a strong safety net for yourself and the answer will come and you’ll be ready.

Love,
Mom ❤️

As a doctor, what was the strangest, most obscure disease you’ve diagnosed? by Gregorio Calleja
https://www.quora.com/As-a-doctor-what-was-the-strangest-most-obscure-disease-you-ve-diagnosed/answer/Gregorio-Calleja?ch=99&share=fe667342&srid=DLhmI

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Do happen to know if Noah and mine’s entire DNA sequence has been sequenced?

Ryan,

I hope you’re doing well and life is going well for you ❤️.

I was wondering if you happen to remember if CHOP sequenced our entire DNA, or if they just did the exome as well.

Since we know we’re looking for something rare, and most likely a probably recent mutation in both my family tree, and maybe even a new one in human biology,

I’m starting to think the mutation might be somewhere in the regular part of our DNA — the part we share with Apes, etc.

If that’s the case, that might end up making the mutation easier to find, because if researchers have also studied a lot of ape dna, then they might be able to recognize what clearly isn’t a normal sequence of genes.

I hope you’re doing well. It’s been an incredibly rough last two years for both me and Noah. Noah’s been battling an eye gland infection over the last few months, and in spite of multiple courses of antibiotics, it keeps coming back.

Like my disease progression throughout my life, Noah’s infections keep getting harder to cure as he gets older, and more and more serious (in spite of already taking daily antibiotics). Clearly it’s time to start Ig for him.

I have a feeling no one has sequenced our entire DNA, but I’m going to look into it…I don’t know much about science, but undoubtably this is genetic, so if the answer isn’t appearing in the exome, perhaps somewhere else…

I hope you’re doing well. I’m in rough shape, I’ve still had this Actino infection in my neck gland that after three years I can’t clear. As with all of my other countless infections, I have no fever or elevated wcb, but cultures confirmed it was there and goodness knows clinically I feel the infection even if I look healthy on the surface…

Warmly,
Tara

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