Vim & Vigor - Winter 2019 - UVA - 55

ING LIFE
F

or Derek Bauer, it was the bumps on his face. For Abby Loden, it was
a mole. These skin conditions provided the first clues that Bauer and
Loden were born with a disease that causes growths to form inside and
outside of the body.
Bauer was 12 and Loden was a teenager when each one learned they have a type
of neurocutaneous syndrome. These disorders all affect the nervous system (brain
and spinal cord), organs, skin and bones.
Although neurocutaneous syndromes are lifelong conditions that can't be cured,
treatments can help manage symptoms and any health problems that occur. There
are several kinds of neurocutaneous disorders, but two of the most common are
tuberous sclerosis (TSC) and neurofibromatosis.
Bauer has TSC and shares how the condition led him to become a UVA Health
neurology doctor who now cares for patients with the same condition (see below).
Loden has neurofibromatosis type 2, which causes her body to make tumors in the
central nervous system, specifically on the eighth cranial nerve, which affects hearing and balance. She travels regularly from Mississippi to central Virginia to help
manage her condition. Learn why on page 56.

My Rare Disease and How
It Informs Me as a Physician
BY DEREK BAUER, MD, UVA HEALTH NEUROLOGIST
I was diagnosed with tuberous sclerosis
(TSC) when I was 12, and it was only
because of my determined mom.
TSC has a prevalence around 1 in
6,000 people, according to the National
Organization for Rare Disorders. About
85 percent of TSC patients have epilepsy,
and about half have some amount of cognitive impairment. I don't have either,
although I had seizures as an infant.
My doctor diagnosed me because of
a type of rash on my face. Until I was
12, I mistook the bumps for freckles.
It became clear they weren't freckles

the first few times I tried to shave and
they bled, because they're actually small
tumors full of blood vessels.
I went through multiple providers
before my mom took me to a dermatologist who made the connection to TSC.
She also found a few small hypopigmented (white) spots on my legs, which
are typical of TSC. She ordered an MRI,
and that's how she found the tubers on
my brain. You can think of tubers as
a grouping of disorganized cells that
are often hardened or calcified. That's
actually how TSC gets its name.

WEBSITE

Holistic Care
UVA Health knows neurocutaneous disorders can be complex and
frightening, so the team provides
a centralized contact, or concierge
service, to help you and your family
access care from a team of experts
in areas such as neurology, neurosurgery, neuro-oncology, neuroophthalmology, audiology, genetics,
urology and pediatrics. Learn more
at uvahealth.com/neuro-care.

Struggling to be Heard

I became a physician because of my
experience with my TSC diagnosis and
initial management. I never felt like the
physicians understood me or my disease. Upon multiple occasions, providers told me, "There's nothing more we
can do, and you're so mildly affected,
you should go out and live life."
We now know that's not the case.
Non-brain manifestations of TSC usually come later than the teenage years.
They include:

Angiomyolipomas, which are
growths on the kidneys

Lymphangiomyomatosis, which
is a lung manifestation of TSC

Rare tumors that involve
the liver and pancreas
WINTE R 2019

55


http://www.uvahealth.com/neuro-care

Vim & Vigor - Winter 2019 - UVA

Table of Contents for the Digital Edition of Vim & Vigor - Winter 2019 - UVA

Contents
Vim & Vigor - Winter 2019 - UVA - Cover1
Vim & Vigor - Winter 2019 - UVA - Cover2
Vim & Vigor - Winter 2019 - UVA - Contents
Vim & Vigor - Winter 2019 - UVA - 2
Vim & Vigor - Winter 2019 - UVA - 3
Vim & Vigor - Winter 2019 - UVA - 4
Vim & Vigor - Winter 2019 - UVA - 5
Vim & Vigor - Winter 2019 - UVA - 6
Vim & Vigor - Winter 2019 - UVA - 7
Vim & Vigor - Winter 2019 - UVA - 8
Vim & Vigor - Winter 2019 - UVA - 9
Vim & Vigor - Winter 2019 - UVA - 10
Vim & Vigor - Winter 2019 - UVA - 11
Vim & Vigor - Winter 2019 - UVA - 12
Vim & Vigor - Winter 2019 - UVA - 13
Vim & Vigor - Winter 2019 - UVA - 14
Vim & Vigor - Winter 2019 - UVA - 15
Vim & Vigor - Winter 2019 - UVA - 16
Vim & Vigor - Winter 2019 - UVA - 17
Vim & Vigor - Winter 2019 - UVA - 18
Vim & Vigor - Winter 2019 - UVA - 19
Vim & Vigor - Winter 2019 - UVA - 20
Vim & Vigor - Winter 2019 - UVA - 21
Vim & Vigor - Winter 2019 - UVA - 22
Vim & Vigor - Winter 2019 - UVA - 23
Vim & Vigor - Winter 2019 - UVA - 24
Vim & Vigor - Winter 2019 - UVA - 25
Vim & Vigor - Winter 2019 - UVA - 26
Vim & Vigor - Winter 2019 - UVA - 27
Vim & Vigor - Winter 2019 - UVA - 28
Vim & Vigor - Winter 2019 - UVA - 29
Vim & Vigor - Winter 2019 - UVA - 30
Vim & Vigor - Winter 2019 - UVA - 31
Vim & Vigor - Winter 2019 - UVA - 32
Vim & Vigor - Winter 2019 - UVA - 33
Vim & Vigor - Winter 2019 - UVA - 34
Vim & Vigor - Winter 2019 - UVA - 35
Vim & Vigor - Winter 2019 - UVA - 36
Vim & Vigor - Winter 2019 - UVA - 37
Vim & Vigor - Winter 2019 - UVA - 38
Vim & Vigor - Winter 2019 - UVA - 39
Vim & Vigor - Winter 2019 - UVA - 40
Vim & Vigor - Winter 2019 - UVA - 41
Vim & Vigor - Winter 2019 - UVA - 42
Vim & Vigor - Winter 2019 - UVA - 43
Vim & Vigor - Winter 2019 - UVA - 44
Vim & Vigor - Winter 2019 - UVA - 45
Vim & Vigor - Winter 2019 - UVA - 46
Vim & Vigor - Winter 2019 - UVA - 47
Vim & Vigor - Winter 2019 - UVA - 48
Vim & Vigor - Winter 2019 - UVA - 49
Vim & Vigor - Winter 2019 - UVA - 50
Vim & Vigor - Winter 2019 - UVA - 51
Vim & Vigor - Winter 2019 - UVA - 52
Vim & Vigor - Winter 2019 - UVA - 53
Vim & Vigor - Winter 2019 - UVA - 54
Vim & Vigor - Winter 2019 - UVA - 55
Vim & Vigor - Winter 2019 - UVA - 56
Vim & Vigor - Winter 2019 - UVA - Cover3
Vim & Vigor - Winter 2019 - UVA - Cover4
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2020summer-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2020spring-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2019winter-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2019fall-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2019summer-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2019spring-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2018winter-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2018fall-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2018summer-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2018spring-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2017winter-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2017fall-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2017summer-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2017spring-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2016winter-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2016fall-uva
https://www.nxtbook.com/nxtbooks/manifest/vimvigor_2016summer-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2016spring-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2015winter-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2015fall-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2015summer-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2015spring-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2014winter-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2014fall-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2014summer-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2014spring-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2013winter-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2013fall-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2013summer-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2013spring-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2012winter-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2012fall-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2012summer-uva
https://www.nxtbook.com/nxtbooks/mcmurry/vimvigor_2012spring-uva
https://www.nxtbookmedia.com