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The International Society for Mannosidosis & Related Diseases, Inc presents:
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me!]
February 14, 2001
Finally ... a break ...MAYBE!?
From: "Smith, Dianne" < dianne.smith@mpls.frb.org
>
Date: Wed, 14 Feb 2001 21:39:17 -0600
It's hard to know where to start this update. So much has happened.
Many of you know that Jenny was well enough that our family went to
Arizona in December. It felt so "normal" to get on an airplane, rent a
car, travel all around Arizona: to the Grand Canyon, Las Vegas, the Hoover
Dam, Tucson, the Phoenix Zoo, and Sun City. We had an incredibly
wonderful time. We still hooked Jenny's IV meds up at night; her
condition hardly slowed us down. The sunshine seemed to agree with her
counts too, her platelets jumped to 121,000. Looking back, I realize that
we all had the sense that "we had made it"! It was a wonderful feeling.
We still cherish every second of that vacation.
Shortly after we got back from Arizona, we enjoyed the best Christmas and
New Years EVER, with many best friends and family. Again, we had the
feeling of contentment and happiness that comes from a "job well-done".
Then when we met Todd and had a chance to truly thank him in person for
his generous donation of bone marrow, it felt like the circle was
complete. It had been a long, sometimes awful journey; but we got to our
destination. It looked like Jenny would enjoy a full and happy life, we
had made it ... or so we thought.
This past 2-3 weeks have been so difficult to bear. We have been
overwhelmed and shocked with what's been happening with Jenny. It began
one day when Jenny fell while we were leaving a movie theater. When I
tried to help her up, she had no strength in her legs and I couldn't get
her up. I had to ask strangers to help me. In less than a minute, Jenny
was walking again and she said that her legs had just buckled without a
warning. Every day it got worse, soon she was falling constantly and now
even with Steve helping her, she still falls. Jenny has no strength in
her legs at all and so she is confined to the hide-a-bed in the living room
couch or the couch in the family room on the main floor of our house. It
has been so troubling because now that Jenny is neurologically ok, she
understands what is going on and she is afraid that this will be
permanent, we all are.
Last Friday (the 9th), we saw Dr. Transfeldt. He is the Neurosurgeon
that did Jenny's spine surgeries in 1995 and 1996. He confirmed that this
new problem was not a result of the hardware in her back being loose or
pinching her spinal cord. He felt that the problem could be neurological
in origin. He called a neurologist that works in the same building that
he is in, to see if she could fit Jenny in that afternoon, so that we
could get started on looking into what was going on. The neurologist
began telling us (with Jenny present) that the transplant was unsuccessful
and therefore might have to be redone; alpha-mannosidosis is probably
still progressing and Jenny is scheduled for an MRI for February 22 -- 13
days away. You cannot imagine how heavy our hearts were. We were
shocked. Jenny said, "What have I ever done to deserve this?" We all
felt that way. After everything Jenny has been through, it just didn't
seem fair. The thought of waiting 13 days to find out if this was correct
was devastating.
As soon as we got home we spoke to Dr. Davies and she immediately
disagreed with the neurologist's opinion. She began making phone calls to
doctors in Norway, Canada and the USA that have treated patients with
alpha-mannosidosis. She found out that alpha-mannosidosis can have an
adverse effect on the pituitary gland. Jenny has been off steroids since
January 29, but while Jenny was on steroids for the past year, her
pituitary gland was shut down. It wasn't signaling the adrenal gland to
produce natural steroids/hormones because she was getting enough through
her meds (which were administered to combat the graft versus host
disease). Over months her dose was decreased gradually partly so that her
pituitary gland would have a chance to kick in and start signaling the
adrenal gland to get back to work. In Jenny's case, because of the
alpha-mannosidosis, that didn't happen. Dr. Davies called us less than an
hour ago to tell us that this is what she thinks might be the cause of
Jenny's weakness.
Jenny is at the University of Minnesota with Steve right now and some
tests are being conducted that should tell us if this is truly what has
been happening. Jenny will get a dose of ACTH and that should signal
Jenny's adrenal gland. The nurses will draw blood at half hour and again
at one hour after the ACTH dose. The results will be back on Friday, if
this is correct, Jenny's steroid/hormone level should not have
significantly changed over the course of that hour. If this is the case,
Jenny will see an endocrinologist and this should be treatable with oral
meds. In the meantime, Dr. Davies is going to assume that this is what is
happening (it seems to make total sense of the situation) and will give
Jenny a 8 mg dose of IV methyl prednisone today and continue with 10 mg
oral deltasone on Thursday and 5 mg on Friday.
By Friday, we should have the conclusive results of these tests and at
that time we should know better what the future truly holds for Jenny.
I'll send another update as soon as I know.
Just a quick note on Jenny's vision. It appears that Jenny is permanently
blind in her right eye and her left eye is 20/60 correctable to 20/40 with
corrective lenses. She got her new glasses and the lenses are made of
poly-carbonate, they are bullet-proof because she only has one eye left to
do the work for two. Jenny can read magazines, the TV Guide, restaurant
menus, etc and she can enjoy TV and movies. It is not ideal but it could
be worse so we won't complain too loud.
Please, please continue to keep us in your thoughts and prayers.
The Smiths
Steve, Dianne, Jenny and Jason
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