No diagnosis

That would be very upsetting. Is your daughter still unable to walk?

@celia16 Yes. She has about 20% use of her left leg and about 5% use of her right leg. We've had no explanation for the cause.

@ethylene, this must be heart-wrenching. As a mother, I send my deepest compassion. Sometimes, a serious medical condition and obvious symptoms defy explanation. I am going through something similar with my aunt right now, albeit she is much older. It's only natural to ask why no one, even the best medical specialists in the country, can find the root cause so that she can begin the road to recovery.

Knowing how Mayo Clinic works, I am confident that they are collaborating with colleagues across specialities and in communication with care teams who were involved in your daughter's care at other intitutions. That is in the DNA of Mayo Clinic.

What causes or conditions have been ruled out? What is currently being pursued? Has she been an inpatient for this period of time? How are YOU holding up?

Sending prayers for you and your daughter.

@ethylene , man, that has to be so hard. I really hope you can find some answers and help. Years ago, my father suddenly encountered periods in which he would lose certain abilities. He would become weak, lose his vision and ability to stand or walk. These episodes occurred intermittently. He was eventually diagnosed with Conversion Disorder, which is a neurological condition. Fortunately, it was treated and he did get better over the years.

Good luck with everything. I hope you can post what you find out.

You might get a better understanding of what the doctors are considering if you ask for the "Differential Diagnosis". Even when doctors cannot give a final label, they always maintain a list of suspected possibilities (a "differential"). Its a term I use when googling my own symptoms, but doctors use the consideration of a differential diagnosis often. You might ask her lead neurologist: "What are the top 2 or 3 conditions on your differential list right now, and what tests would rule them in or out?"

During this unknown time, you don’t want her to lose muscle tone in her legs and core. Physical and occupational therapy are options to prevent muscle atrophy, improve joint mobility, and train adaptive movement to get her moving as normal as possible with her current function. If ongoing therapy isn’t possible, even a few sessions with a PT might show her how to get the most out of the movement she has.

Chris,
Has your daughter been seen by neurology at Mayo in Rochester? They have lists of diseases for her symptoms. Most of the diseases have tests to eliminate them or possible treatments if tests confirm one. At the bottom of the list is the default one and it is not good--ALS (always fatal and with weird stats.) ALS is Mayo's "orphan illness"
Famous people who have had it include Lou Gehrig (baseball player in 1920s to 1935), and Steven Hawkings (Physicist--Black Holes). The average life expectancy from diagnosis is about two years but many have lived longer.

I’m so sorry you’re going through this uncertainty. It doesn’t make a lot of sense in these times to not have better definitive diagnoses with the advancements in medicine. I was finally diagnosed with myasthenia gravis after about 20 years of various symptoms that each doctor sent me to another, etc , etc , etc . We have to become our own advocates and your daughter is lucky to have you.
I only would suggest keeping precise records and documentations of all treatments, tests, doctors etc .
If you have the financial resources there are medical specialists that can be hired to help navigate a person’s medical issues and appointments and all . I couldn’t afford it … i just heard this from an acquaintance. He was telling me it cost him about 3 thousand dollars a year to have somebody
Manage his medical care. A medical concierge I think he called it . Has anyone had any experience with this kind of service? I don’t know.
As a retired RN I could imagine that could I would have liked to do such work for people… lol … not now though it is hard enough taking care of myself !!!
Good Luck!

@newtogmg75f You're very kind to respond to this "cry in the wilderness"! I'm sorry to learn of your diagnosis of myasthenia gravis. This was one of the first diagnoses that my daughter's specialists considered, but it was ruled out early on, along with several other conditions like MS and Guillain-Barré syndrome. Each time I'm on the Mayo Clinic campus in Rochester it dawns on me how many, many things can "go wrong" in the human body, how many extraordinary advances medicine has made, and really how little we do know about how to treat so many conditions that plague us. I hope you're finding ways to enjoy your life while managing your disease. I know on some level you must be grateful just to finally have a name attached to it, so you know what you've been dealing with all these years.

I'm a retired musician and, as you can well imagine, I don't have any kinds of funds to cover the cost of a medical concierge. It would be a lovely luxury, but it's just not in the cards. I've solicited support from just about every available resource to help pay for these services; we're currently on appeal #11 with my daughter's medical insurance carrier. They are draining us dry; all I have is my Social Security, and my "savings" have dwindled to about 40% of what they were in April. I'm 74 years old and have no other source of income, so in addition to this being frustrating it's also frightening. I know it's hard for you to take care of yourself, and I do sincerely wish you well as you advocate for yourself. I always tell my daughter, "Try to find something funny." Maybe if we can laugh it will take some of the sting out of all this. Be well, and thanks again.

@rollingf Yes, thank you for your comments here. My daughter has been seen by Dr. Teerin Liewluck, who is a Professor of Neurology, Mayo Clinic College of Medicine and Science. He has performed many neuro exams on her, ordered over 30 blood and urine tests, and enlisted the assistance of various departments at Mayo, including genetics, pulmonology, psychiatry, physiatry, health psychology, and the endocrinology/diabetes/metabolism/nutrition department. She had a full genome sequencing done by the Department of Molecular and Human Genetics at the Baylor College of Medicine in Houston. She has a few upcoming appointments at Mayo in October: a repeat appointment with physiatry and for additional MRI imaging. The diagnosis has been fluid; it was first (wrongly) identified as polymyosisis by doctors at the University of Minnesota. Then the Mayo neurologist believed it was Multiple Acyl-CoA Dehydrogenase Deficiency, a rare, inherited metabolic disorder. Every medical indicator now points in a different direction; even geneticists don't know what this thing is. My daughter's managing neuro specialist is telling us it's possible she is Patient Zero for an as-yet unidentified, undefined medical condition that there's no known treatment for. Mysathenia Gravis, Guillain-Barré syndrome, Muscular Dystrophy, and ALS were ruled out by Mayo many months ago.

Thank you for your concern and for responding to my post here. In these times I find it comforting that there are people who can respond to my caregiver burnout as well as to help doctors to crack the code on this very mysterious and challenging set of circumstances.