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.


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.

Mom ❤️

As a doctor, what was the strangest, most obscure disease you’ve diagnosed? by Gregorio Calleja

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


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…


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13 December, 2018 08:49

I didn’t expect to find such a wonderful thing! http://category.skkflorida.com/success

Rita Kachru

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8 Things I Wish My ‘Lost’ Loved Ones Had Known About Being Friends With a Spoonie

8 Things I Wish My ‘Lost’ Loved Ones Had Known About Being Friends With a Spoonie https://www.yahoo.com/lifestyle/8-things-wish-apos-lost-210325658.html?soc_src=community&soc_trk=ma

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14 November, 2018 04:23

You can’t miss it! http://develop.knowyrgames.com

Rita Kachru

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I’ve might have hit a major breakthrough on the genetic front!!!

I got a voice mail message from the woman who was married to John Clarke who died when he was 50 years old in 1987—I had sent an email and some of Noah’s medical records (because those are the ones I had in front of me) to someone else who contacted me through findagrave, who said she knew his widow —

Joanne Clarke didn’t say in her message that her children or grandchildren are experiencing similar issues, but, she left me a long message saying she definitely wanted to talk to me—I can’t imagine any other reason then there’s something going on with them too!!

If we can get DNA from her children or grandchildren (she’s not effected—she married him), then that would help narrow down the search **dramatically** — Maybe even down to 1 or 2% of my dna —

John Clarke is the son of Laura MacKay, who was my grandfather’s sister. My grandfather, Donald Alexander MacKay, died from this disorder (in the end it was colon cancer), so I’ve been posting all over findagrave and on 23 and Me and on Ancestry, everywhere I can that I’m trying to connect with relatives who might have this too!!!

John’s sister, Judy, also died fairly young and didn’t have children, but John had 3 kids in the early 1960s, and I know one of them had children as well.

Of course I hope none of them have this, but the fact she left me such a long message saying that she really wanted to talk with me is very encouraging!!!

If it turns out someone in her family does follow a similar pattern, low white cell blood counts, problems fighting infections, etc, I’m going to talk to the company whose doing our exome to see if we can get a kit out them as well.

I’ve had so many letdowns over the years I can’t get my hopes up, but the tone of her voice in the recording was one of being so happy to hear from me — like relief — it reminds me of when I first made contact withUncle Bobby, the Uncle I never knew, who was so relieved to hear from his niece with strange health problems that no one seems to understand…

I can’t believe how lucky this is!!! I can’t believe she called me and I found her. Praise the Internet!!! Such a beautiful thing. I’ve been so ill the last few months I barely have the energy to do much of anything, I don’t know how people like me every survived in life before Internet and cell phones—

This is really huge…one thing that my father, uncle, noah and I share in common is this unspoken bond, we know how much we suffer on the inside and we know how healthy we look on the outside, it’s like being trapped in a curse that only the other afflicted truly understand —

That was her tone…relief and excitement…she must have loved John Clarke very much (he died in 1987!), and he must have suffered a lot, because after all of this time she still cares deeply about what happened to him…

I can’t wait to talk with her…what a breakthrough this could be…we could all help each other too ❤️.

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