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Joined: Sep 25, 2012

Evasive Diagnosis, Deteriorating Health and College (Lysosomal Storage)

Posted by @rubickscube, Sep 25, 2012

Hi everyone,
I’m a 21 y/o male in college with serious medical issues arising that are complicating my day-to-day existence. I was diagnosed with narcolepsy, epilepsy and bipolar disorder as a teenager, but now, as a result of newer symptoms, all three diagnoses are in question.

I’ve seen doctor after doctor. I’m negative for autoimmune diseases, infectious diseases, all forms of hepatitis, HIV, herpes, wilson’s disease and more. Most recently, I’ve been making the trek to Yale University School of Medicine to see a doctor there and my next stop is now a neurogeneticist at the Mount Sinai School of Medicine in New York.

Carrier of Gaucher Disease: N370S

Suspect: Lysosomal Storage Disease (Niemann-Pick Disease Type B/Intermediate, Cholesteryl Ester Storage Disease?)

Since April, when neutropenia appeared out of nowhere and for no reason, I’ve been poked and prodded by needle after needle. It’s been six months and symptoms are the following:

Deficient immunoglobulins A and G
Idiopathic Ataxia
Bipolar disorder
Early stage cirrhosis
Small pulmonary nodules
High Band Count w/o infection
Joint/muscle inflammation
Abdominal pain
Intermittent fever
Circumferentially thickened bladder wall
Non-herpatic mouth ulcers

I have no clue what to do. I’ve seen doctor after doctor and we still have no clue what’s wrong with me. My academics, since they take my mind off of my symptoms and it works. I’m in the honors college, take 17 credits worth of intense course work and am on the board of the student government association. However, I limp to class, am stuck with a fever half the time and sleep about 10-13 hours/day on average.

My family is trying to get me to drop my entire semester and fly out to Mayo in Minnesota. It would delay my quest for my Ph.D in clinical psychology by over a year and my current state scares me. How do I get through the ultimatum of all ultimatums: health or academic career?

How in the world do I get through this? The prospect of a lysosomal storage disease is more than enough to frighten my tail off. I’m so frightened to make my next move.


Ann Heaney

Posts: 61
Joined: Sep 19, 2012
Posted by @annheaney, Sep 25, 2012

I do not have an answer. But I just prayed that God will guide you towards your next move. One thing to consider is that the UW-Madison has world class medical care. This makes all of the other medical centers compete. So the care in Madison is highly regarded. I have had good experience with both my mental health providers, my oncologist, my eye doctor, cancer treatment and primary care doctor. It sounds like you should stick it out where you are until you get your Ph.D.
Have you spoken to a counselor on campus? Consider.


Posts: 5
Joined: Sep 29, 2012
Posted by @callers, Sep 29, 2012

I would stay with my education for as long as I could make it and still enjoy it and succeed at it. Understand the fear of making the neXt move; going through thevsame thing on a surgery decision.
Listen to your body. You say you’re scared but your day to day activities picture a very brave person. Praying for you also.


Posts: 7
Joined: Sep 14, 2012
Posted by @anon77906882, Oct 3, 2012

Hello. I am so terribly sorry to hear of your health problems and the suffering they cause you. I can see why you want to stay at school as it keeps your mind off of all the “What is going on in my body? ” questions. I suggest talking to your University’s Health Clinic Head MD and tell him/her what you wrote here. I also understand your parents wanting you to take care of your health first and foremost. One of our closest family friends was referred by his small town Cardiologist to go to Mayo Clinic ASAP for tests and surgery. He put it off to make two more business trips and sadly he passed away coming back from the second business trip. His wife, children, siblings, friends were all devastated that he would make that decision without talking and discussing it all with them. They found out after his funeral from his wife talking with his Cardiologist and learning of his advice to go to Mayo Clinic ASAP. I tell you this as there is always time to go back to your high honors studies for your Ph.D…no matter if you are a year or two behind your “current peers.” Ego should not be a part of the equation…if what you wrote is all happening inside your body right now. Mayo Clinic is an incredible Hospital with world class Doctors and Surgeons in every area of medicine. I just came back from three weeks at Mayo Clinic having testing and meeting with their Specialists. I still have more time needed up at Mayo Clinic as I have a complex medical history and complex health conditions…but I am grateful there is a place like Mayo Clinic where they study your medical history before you arrive for your first General Internal Medicine Consultation and they immediately start working on finding the root cause of condition and the most up to date treatment. I hope and pray you will find answers, treatment and God willing…a cure to your condition and that you have a very long healthy life and a brilliant career. God bless you.



Liked by katzee

Ann Heaney

Posts: 61
Joined: Sep 19, 2012
Posted by @annheaney, Oct 4, 2012

Nancy, I am also praying for rubickscube to make the right decision. I am glad that I read your take on this. After some thought I agree with you. My first reaction was not what I would suggest. He should go home and get medical treatment at the Mayo Clinic. Good health is worth a change in plans.


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Joined: Oct 23, 2012
Posted by @sandybeach, Oct 23, 2012

My husband is very ill and all I can tell you is your health is the most important thing. With out it what good is that degree. You owe it to yourself to seek expert opinions. I would give anything for someone to find out what is wrong with my husband , I believe your parents feel the same way. May god look after you. I wish you the best. Sandy

Liked by katzee

Nora mesfer

Posts: 8
Joined: Nov 01, 2012
Posted by @noramesfer, Nov 3, 2012

I understand how u feel. I am 22 in collage have a job and a life altering disease. For years dad has wanted me to go to the mayo clinic. I told him I won’t go till I graduate. I won’t let my body have control over my education. It rules everything Els I won’t let it control this. I graduate this may and will finally go to the mayo. Maybe u should try to make a deal like that with your parents. Let them know how school is the only thing in your life u still have controls over and u won’t give it up. My best wishes for u.


Posts: 103
Joined: Jan 19, 2015
Posted by @mrsdeecee, Jan 18, 2015

I studied eastern and western medicine, also a very complicated case, if you calm the shen(mind) you will slow down disease process ,tai chi,yoga massage,meditation accupucture, Stress will kill you before any disease seems like school is your meditation, slow down and your answers will come to you,now if I could only follow my own advise, Bless you and follow your shen and heart

Liked by Erma


Posts: 3
Joined: Jan 19, 2015
Posted by @paradiserealm, Jan 19, 2015

Health or Career? That’s a hard one. One thing to keep in mind-you cannot of a career without your health. Health won’t always wait, but you can always take a leave of absence from school. Stop thinking about what everyone else wants. Including the pressures society puts on you and go meditate for an hour or two or however long it takes for you to settle down your body and mind enough to hear your voice inside. Not all decisions can be best made analytically, and the really important ones won’t make sense right now. Find the answer and make the decision. You are the one that has to live with the decisions you make. Another thing-in my personal experience the more research I did pertaining to the symptoms I was experiencing when I didn’t have an actual “name” or “diagnoses” to label my symptoms, the more stressed out and upset I felt. It’s once you calm down and realize it doesn’t matter what they call it, its there and I’ve got to find the best days to deal with it, that the answers will flow to you. You will find peace. Distractions can seem helpful, but sometimes you’re just swapping one stress for another avoiding the problem that you really need to be focusing on. If you are doing well in school with what you’re dealing with, then I wouldn’t worry for a minute about catching up. It sounds like you have a loving family and they will do everything in their power to help you. That my friend, is hard to come by. You know the answer. Just let go. God Bless

Liked by Gilly


Posts: 103
Joined: Jan 19, 2015
Posted by @mrsdeecee, Jan 19, 2015

Erma,great advise,I was very tired when I put my post on but do believe in
eastern and western medicine,stress will increase and speed up disease
process, I feel for this young man as I am ready to give up myself but
after finding the liver foundation pads on face book.and read all the
success story\’s of women pulling through a liver transplant than
contracting hep C and also being cured with a liver transplant there is
hope there is a lot of success coming out of Cincinnati\’s area, This
intelligent young man might want to find this FB page,honestly I felt
better when I finally got a name attached to my issues Auntoimmune Hep also
bilary scelorsing Colangitisis, I feel like I have to stay a step ahead OF
Doctors at all time,and do believe his meditation is his studies his
question is should he stay or go with regards to his studies. That would be
hard for anyone to make and nothing worse than living with regrets? ? You
are a very wise woman,going to read your post again it\’s hard to keep up
your faith when felling ill, I am upset with myself for missing church
yesterday. I want to be counseled by.a priest, pastor maybe this young man
needs some counseling so he can make the right decision for himself,GOD
knows I need some help making important decisions. MY family does not talk
to me they are criminals, It seems like the young man has.a good support
system which is very important,thanks again for a great post, I am a 52
year old woman a young 52, I have lived a life he is just getting STARTED.
God Bless him and God bless you! Deena

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