Frustrating: Young caregiver of partner with multiple conditions

A quick apology - I know it's easy for well-intentioned sharing to become overwhelming. And I think I'm going to go on a little run here, broken up over a few posts.

One of the things that I've found many doctors struggle with is really evaluating rare causes of disease. Great specialists are better at that, but usually within their particular specialty/silo.

From my own experience and talking to people undergoing similar journeys, hard and rare cases are usually the areas where it's most needed for patients to effectively "partner" with doctors to keep an eye on and really evaluate the unusual possibilities. But it's also the area where it can be hardest -- for either side -- to do it.

With your husband's flaring WBCs, one possibility to ask about is auto-inflammatory disease.

Most people (and doctors) are familiar with auto-immune diseases, where your adaptive immune system -- the specialists of the immune system -- starts attacking the body. But with auto-inflammatory disease it's the body's first line of defense -- the generalist innate immune system -- that goes crazy.

The whole set of diseases is often also referred to as "periodic fever" syndromes because the first known examples included familial Mediterranean fever.

If you run a search for the Autoinflammatory Alliance, they have a great chart that runs through a lot of the known diseases.

That said, and tying into my post above, part of the challenge is for both doctors and patients to respect that: (a) it's the doctors' job to diagnose, AND (b) it's the patients' and caregivers' right to ask good, probing, and even specific questions.

Great doctors don't just get the second part; they encourage it. Hacks on the other hand tend to make broad declarations (that are too often wrong) and have no tolerance for ambiguity or uncertainty.

But you have to be careful. A lot of doctors react badly if they think a patient is pushing too hard.

One of the reasons I recommend the books by Groopman and Ofri is that they help to develop a 30-second or 1-minute "pitch" to try and defuse some of that up front. I find it helps to point out that I know my case is hard in some way(s) -- otherwise it would have been resolved years ago -- so my expectations are to aim for progress over time.

A silver bullet would be great. But finding it on the first 15, 30, or 60 minute visit is just unrealistic. It really is a marathon rather than a sprint.
I like to say that health care works real well for about 90-95% of problems for 90% or so of people. Take a broken arm. But when you fall into one of the "cracks" it can be like falling to the bottom of the Grand Canyon without a guide or path out.

Another thing to think about as you work through things is the importance of working on both diagnosis and treatment and how they relate to each other.

Pretty early in my own journey, I had a primary doc I really liked. He explained to me that for docs like him, a lot of what they did was prescribe drugs that are known to work for most people. As he put it, you come it with heart disease risk, we give you a statin. For about 80% of people, that's enough. We don't need to figure out why.

But as the front-line treatments don't work and the stakes get higher, figuring out the WHY can be the difference between getting the right treatment or life falling apart. But for hard cases, getting to the right people to figure it out -- if they even exist -- can be as hard as the disease.

If you have the time, check out the Netflix show "Diagnosis with Dr. Lisa Sanders." It's only 7 episodes of 40 minutes each, but worth it. The first episode should underline to you how important it is to have doctors that build bridges to the best care rather than acting as gatekeepers.

Sanders' career is fascinating. She started as a TV reporter, went to Yale medical school, writes a column for the NY Times that helped inspire the TV show House (she was a technical consultant for it), and she has several helpful books as well. Her whole point is that it's hard to get the right treatment without the right diagnosis. But that takes work and can be really hard.

If a treatment works and resolves all problems without an operative diagnosis, that'd actually be pretty great. But often a good treatment will just buy time. I tell people that's the best time to keep working the problem so that if a treatment stops working, you haven't lost the intervening time. Lurching from crisis to crisis sucks. Better to just keep grinding away.

But one valuable lesson from the show is also the potential value of whole genome sequencing. Commercial testing can be as little as $200, just make sure that you have the right to download the data files.

Doctors can't rely on the results from the tests, but often it can be used to give the doctors a specific target to test for. If that's confirmed, you've saved potentially massive amounts of money and time. As well as short-circuiting potential arguments, dead-ends, and blind alleys.

If nothing else, it can help you ask better questions of the doctors. Nothing wrong with being a better-informed consumer especially when the stakes are so high.

Last one. I promise.

In the off-chance that your husband is dealing with some kind of problem at the intersection of infectious disease and the immune system, just be aware that -- for reasons I don't fully understand but chalk up to historical accident -- rheumatology (usu. autoimmune disease), infectious disease and immunology (usu. allergies but also immune deficiencies) are each separate fields and they don't seem to communicate with each other all that well.

But all that is technical stuff. It's important. But so is building out a support structure for the long haul.

One of the things that sucks about what your husband and you face is that these things -- like Alzheimer's, cancer, etc. -- try to strip away the rest of the world, collapsing into narrower and narrower circles. Friends can disappear, going out is hard, money and jobs evaporate. It can take an immense toll on patients, partners, and especially kids.

Don't try to take it all on by yourselves. Tap into broader resources and support -- church, counseling, family, other people going through similar situations (think a house of cards holding each other up) -- but also ask about social workers to find additional resources. Mayo has personnel for that and so do some of the other Jacksonville-area providers.

The time to build a support structure is while you still can. And treasure the little victories and good moments. Tuck 'em away to help get through the trying times.

Drawing on my own religious tradition, even Jesus accepted help during His passion. If the Son of God can use and accept the help from any quarter, I figure I should be open to it.

Similarly, I'm a huge fan of the Book of Job. It may have been written 2,000 years ago, but it's ten or so pages ring as true today as they were then. Job inexplicably loses everything - wife, kids, wealth & health - and it's his FRIENDS (?!?!) who light him up, asking why he won't just admit what he did wrong to offend God. Understandably, Job pushes back. Eventually, he gets angry enough to say that a just God wouldn't do something like this to him.

That's when God shows up. Not to apologize. Not to explain. But to say, who are you to question My ways? Job promptly apologizes and God heals him, Job rebuilds his life, etc. But there was no apology and the past wasn't wiped out (the first wife and kids all still dead).

As sad as it is, it's also a beautiful story about resilience in the face of tragedy and the slings and arrows we can face from unexpected quarters on these terrible health journeys. (I call mine a journey of personal discovery that I'd have been happy enough never to have undertaken. grin)

Regardless of the faith tradition, they speak to problems and challenges that have been with us basically for as long there's been people. While it can be a hard and lonely journey, know that you're not really alone. And that there's always someone out there willing to lend a hand or a shoulder to cry on, even if they may be hard to see or find right now. But don't stop looking for help -- whether from doctors or in any of the surprising places it can be found.

@cwebster84 I’ve bee thinking about you and hope that you’ve gotten some help. Did you have any follow-up meetings with Mayo Clinic? Were you given any referrals to get help?
Please let us know. Becky

I've had MCTD for almost thirty years. I was lucky enough to be diagnosed, but the absolute key is to start caring for symptoms, less worry about the diagnosis. I have specialists, as does my husband who treat the conditions and then communicate with one another. The diabetes, high blood pressure, and high cholesterol are metabolic issues, so taking care of the nutritional needs, movement and high blood pressure are all important. High blood pressure can also affect kidney function. An Endocrinologist can help you. However, a serious diet makeover to high nutrition. low processed foods and cutting back on eating issues (often cheese, high carb snacks, foods with high fructose corn syrup and aspartame), substituting something like the AIP diet, Terry Wahls Protocol, Mediterranean diet is important. For us, we found 5-10 good meals and stick with those, adding a salad and a vegetable to dinners. Beer and alcohol should be limited. Compliance with meds is easier with a pill box. Smaller portions are better, so we have migrated to smaller plates. My guy has COPD due to overweight and a large heart and smoking. It is physical. He is on oxygen, so we bought a small concentrator and a motorized wheelchair so he can get out and about. Mental health is important, so he does biking in the gym and water exercise to keep joints good. For degenerative disc disease, suggest a session with PT to help build surrounding muscles; cat/cow/child/cobra yoga, piriformis stretches to relieve sciatica and others. Lots you can do without being able to breathe alot. The other stuff will sort out in time but lifestyle changes are imperative and will really improve his outlook. This is more than a young person wants to do, but making the habit to get these done daily, permanently is much more sustainable than waiting for motivation and willpower. Good luck.

@cwebster84 how is the caretaking going for you? I hope all is going well.

Has anyone ruled anything out for a diagnosis? I hope you are finding some emotional support.