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…


About hopeforanswers

Some kind of rare immune deficiency, yet to be determined. A lifetime of infections without an elevated white cell blood or fever. Very grateful to be alive, very thankful for the friends who’ve supported me and for access to literally millions of dollars worth of medical care. I’m not the bubble child, I’m somewhere in between.
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