The puzzel that makes up a rare disease

My husband was diagnosed with an extremely rare form of an adult onset Leukodystrophy called HDLS - Hereditary Diffuse Leukoencephalopathy w/ axional Spheroids.
Because of it's rare nature many people do not know what it is, how it has impacted his life, and the measures that were taken in order to get a diagnosis. In and of itself that does not sound too awful, until I try to explain to yet another person, another doctor or a member of a medical team in the ER., exactly what is wrong with him.
Trying to explain a rare disease and answer the question that everyone asks ... how do you know what it is and how is it diagnosed, with some of the forms of Leukodystrophies, can seem impossible.
I have come up with a way of explaining the incomprehensiveness. It goes like this:

Imagine if you will putting together a human jigsaw puzzle. Piece by piece, you examine every part, matching the pieces together and locking them into place. The puzzle has many pieces, and some of those pieces have no particular form in the beginning. We put all that we can together, and then set off the pieces of the puzzle that we are unsure of, until they develop and present to us a shape .. then we try to place it. Once we get our human puzzle together, with whatever missing components that we have set off to the side, we are able to see what is taking shape. Hopefully, we eventually have all the pieces together.
Once we do that we sit back and take a breath. Satisfied that we have something that we can identify. But that victory is short lived, because then, we begin to see it coming apart. Sometimes it is one piece that deteriorates and falls away. Other times it is a cluster of pieces that come off, often so fast that we do not see it happening. But make no mistake, the pieces will deteriorate, and the pain that we experience watching our loved one come apart is devastating.
My husband is rapidly progressive, and degenerative disappearing before my eyes.
Leukodystrophy in any form is a cruel debilitating Thief In The Night. It steals away the very essence of life. There is nothing good about it, except that the disease will eventually end the suffering of the person afflicted.
For those of you that are dealing with this type of disease and yet have no diagnosis... God bless you each and every time you have to explain.. why.. and what is wrong.

By ROBSKID
Posted April 27, 2009 at 3:07 pm
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IT IS SO TIMELY THAT I SEE YOUR E-MAIL TODAY. I AM ON MY WAY YET TO ANOTHER DOCTOR. I KNOW THAT HE WILL KNOW NOTHING OF MY PROBLEMS BUT MOST LIKELY SEND ME TO ANOTHER DOCTOR AS THE PREVIOUS DOCTOR SENT ME TO HIM. I THINK I HAVE DECIDED THIS IS MY LAST. I WILL TRY TO FIND A FAMILY DOCTOR THAT I CAN USE JUST IN CASE I WOULD NEED SOME MEDS. I HAVE CARRIER AMN AND AM ON THE DOWN GRADE. MY SON DIED OF ALD, MY BROTHER OF AMN MOST LIKELY MY MOM DIED OF AMN AND I HAVE TWO GRANDSONS ON THE OIL AND SO FAR SO GOOD. MY HEART GOES OUT TO YOU AND I PRAY THAT YOUR STRENGTH HOLDS OUT. MY DAD USE TO SAY NOBODY GETS OUT OF HERE ALIVE AND IT IS SO TRUE. PERHAPS WE HAVE BEEN CHOSEN TO HELP TO WIPE OUT THIS AWFUL SYNDROME.

By samshdls
Posted April 27, 2009 at 6:40 pm
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I took my husband all the way down to Jacksonville FL., to the Mayo clinic to be diagnosed. This was a long process, as the disease progressed. Once we went through a long period of diagnosing, we were given the bad news of HDLS, which is an extremely rare form of adult onset leukodystrophy.
A treatment plan was set into motion, supportive care for symptoms being all that is available to us. Once I had that setup, we then returned to Ohio, and began the search for Drs. to work on our care team. That involved many Drs., Primary care, Urology, Infectious disease, and local Neurologist. We estblished a relationship with a visiting nurse asso. and then set up weekly visits by a home nurse and home health aides to assist in my husbands, rapidly declining health. Our Drs in Fl. still oversee everything and we communicate on a regular basis via email and phone. There is no one Dr. that can take care of all your needs as your disease progresses. It is important to set up an established treatment plan, and then a care team. This multidisciplinary approach to my husbands care seems to be working, after some effort and multiple phone calls, and several DR. visits. It is no small thing getting my husband to the doctor, seeing as now he is bedfast and must go by ambulance to DRS vistis. That might be something to consider when looking for a doctor... is the doctor willing to do home visits? We now have a primary care doctor that will come into our home.
I hope this helps give you an idea of what can be done. Contact me if you like at Emajean322@aol.com, or on this network. God's speed to you and your family.
Lisa
P.S. I hope all went well with your doctor visit today. Be patient if you can with the doctors, they are learning as they go with us. I always remind the doctors of how rare some of these diseases are, and that they may never see another case in their lifetime. Sometimes that inspires the doctor to go the extra mile.

By samshdls
Posted April 28, 2009 at 12:49 pm
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Hi Michael
Well I guess there are doctors out there that just don't want to be bothered to learn new things. I certainly have encountered one of them myself. However, I did not have to deal with him for long ... I dumped him and found a better one.
Lisa

By jolocny
Posted April 29, 2009 at 9:20 am
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I'm sure we've all got at least one "horrendous doctor" tale ... why is there so much dis-interest in the diagnoses that are rare in the medical community? If just one would really feign interest he/she would be quite rich!
Keep looking for one that will work with you, as Lisa said. It's SO worth it! It's our turn to interview these doctors ~ to find out if they are worthy of working with people who want the best for themselves and others affected by the leukodystrophies! We are a rare and wonderful group!
All the best!
JoAnn

By Joy2theWorld
Posted May 1, 2009 at 5:00 pm
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Thank you, Joann. My son now 33 was diagnosed with AMN in 2002. Getting info about what was going on was a blessing--and a curse, given that in his case it has been described as, and has manifested, as progressive, with no treatment or cure, and with brain involvement. I like your puzzle analogy, and pray for you. Joy

By samshdls
Posted May 1, 2009 at 8:39 pm
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When supportive care is all that is available to you, it is so important to have the best team of people that you can get. Become your sons advocate, then once you perfect that, move out and become an advocate and support for others. First though, you must take care of yourself.
A comprehensive care team, will be a blessing to you, as things progress for your son. Not knowing what to expect is one of the most difficult things that we as caregivers and family go through. Talk to others, and try to think ahead in blocks of three months. Do what you need to for those three months, then prepare for the next three months. God bless you and your son.
Lisa

By Joy2theWorld
Posted May 2, 2009 at 3:33 pm
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We've had trouble finding someone to coordinate our son's care. What exactly is a care team, and how can I find one? We have started seeing some in-home care people from our local hospital (a nurse and a psychiatric nurse so far, and are trying to get a social worker over) but it is slow and uncertain when someone will come. Any suggestions?

By samshdls
Posted May 3, 2009 at 12:01 am
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Joy,
I am happy to help you in any way I can. To answer your question, a care team is simply all the people that are involved in your sons care. Beginning with yourself, your Drs., nursing agencies, social workers, etc. As for coordinating them all, that is something that I took on for myself. I am my husbands advocate. Once we knew what the challanges were for him, and as things progressed with his disease, I was better able to get everyone in place. I began with a nursing organization that helped me coordinate all of the services we needed; nursing care, in home health aides, physical therapists who helped us attain equipment, a medical supply company and pharmacy that provided medical supplies for his personal care as well as prescriptions ( if possible get a pharmacy that delivers to your door your supplies), a social worker, and a case manager to assist me. I found the Drs., interviewed them prior to my husband seeing them. I made sure that they had an interest in his care, as well as being able to manage his comfort care needs as they progressed. Things will change with his disease rapidly so I needed to be prepared for those changes and have a plan ready so that I could impliment it on a moments notice. I also coordinated with a local ambulance company for the transporting of my husband to and from appointments.
One of the most essential things that you do will be to talk with your insurance carriers. Coordinate services through them with your Drs. make sure of what your plan will and will not pay, then once you know what they will not cover begin working on finding agencies that might help you with the cost of uncovered needs.
We did very little through the hospital, but a private nursing agency was a God send.
Now, if you do not have the ability to do all that, then there are patient care advocates, in the hospitals that can help you. There are private patient care advocates that you can hire and they are listed with the state, just google them. A patient advocate is someone that works with you, for you and will put your sons needs first.
There really is so much more I can say, but I do not want to overwhelm you. Please feel free to contact me on here or at my personal email address, anytime.
Emajean322@aol.com
Lisa

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