Celiac disease and MTHFR deficiency are invisible disabilities that can go undiagnosed for many years. The author details her experience living with undiagnosed celiac disease and MTHFR deficiency for over 35 years, during which time she experienced over 60 of the 84 listed symptoms of celiac disease. It was only through social media and a personalized genetics study that she was able to receive diagnoses of celiac disease and MTHFR deficiency. Her story highlights the importance of awareness of invisible illnesses and the life changes that occurred once she began following a gluten-free diet and treatment.

1. Hidden Stories:
Celiac & MTHFR
PF Anderson, October 31, 2013
for Investing in Abilities Week,
Invisible Disabilities
Sunday, May 4, 14

2. Celiac Disease Means ...
• Wikipedia: “an
autoimmune
disorder of the
small intestine that
occurs in genetically
predisposed people
of all ages from
middle infancy
onward.”
http://commons.wikimedia.org/wiki/File:NSRW_Rye_and_other_Grains.png
Sunday, May 4, 14

3. MTHFR Deficiency
means ...
• "Mutations in the MTHFR gene lead to impaired
function ... of methylenetetrahydrofolate reductase.
Deficiency of this enzyme can cause moderately
elevated levels of homocysteine in the plasma...
Raised homocysteine levels may be associated with
an increased risk of premature heart disease,
thromboembolic disease, preeclampsia and stroke.
" (NCBI, Laura Dean, 2012)
Sunday, May 4, 14

4. Celiac
Symptoms
• How many are listed
here? 84.
• How many of them
did I have? ~60
• ... but not all at the
same time.
http://glutendude.com/celiac/celiac-disease-symptoms/
Sunday, May 4, 14

5. Diagnosis Timeline
• 35 years: Warning signs
• 20 years: Ill (Celiac),
but not diagnosed
• 2 years: Trying to be
gluten free
• 1 year: Celiac diagnosis,
sort of, and MTHFR!!
Sunday, May 4, 14

6. • “You know what the average time is
for a celiac diagnosis? 10 years. 10
friggin’ years.”
• http://glutendude.com/doctor-
horror-stories/
Sunday, May 4, 14

7. How did diagnosis
happen?
• Celiac:
• Social media, friends, acquaintances
• MTHFR deficiency:
• Subject in a personalized genomics
study
• Volunteered to verify celiac risk
Sunday, May 4, 14

8. Warning Signs
• anorexia
• bone breaks /
chips / cracks
• chronic fatigue
• different diets
• easy bruising
• infantile epilepsy
• mild anxiety
• mild depression
• miscarriages
• "phytate bloat"
• slow healing
• weak immune
system
(catch every little
thing that comes
by!)
Sunday, May 4, 14

9. meniere's disease/
balance disorder
migraines
mild obesity
morton's neuroma
mouth sores
mouth ulcers
ovarian cancer
pneumonia
prediabetic
rosacea
sciatica
severe chronic
idiopathic anemia
acne
allergies
amnesia
atrial fibrillation
bad hips
bad knees
brain cancer
depression
ear infections
geographic tongue
GERD/acid reflux
hearing loss
heart murmur
hypotension
idiopathic anaphylaxis
longterm carbon
monoxide poisoning
severe
osteoporosis
sinus infections
skin infection
slow clotting
strep carrier
stress
ventricular
tachycardia
vitamin &
mineral
deficiencies - Ca/
D/Fe/Zn/Mg/E
weight gain
weight loss
HYPOTHESES
PLUS SURGERIES
Sunday, May 4, 14

10. My Meds, Then & Now
(And the one on the right is
for an injury, not a condition.)
Sunday, May 4, 14

11. FAQ: What happens if ...
• Cognitive
losses
• Fatigue
• Pain
• Hives
• Digestive
Memory: http://www.flickr.com/photos/runran/2462799975/
Posture: http://commons.wikimedia.org/wiki/File:%22How_Does_Your_POSTURE_Line_Up%22_-_NARA_-_514534.jpg
Tell me where it hurts: http://www.flickr.com/photos/bbluesman/4387732214/
Girls Don’t Poop PooPourri.com: http://www.youtube.com/watch?v=ZKLnhuzh9uY
Sunday, May 4, 14

12. Where does it hurt?
• All joints. AND ...
http://commons.wikimedia.org/wiki/
File:SpirellaHOW_TO_ADJUST_-_08_.jpg
Sunday, May 4, 14

13. Where does it hurt, pt. 2
• Pain
• Swelling
• Bleeding
• Ulcers
• Burning
• Dryness
• Thirst
http://commons.wikimedia.org/wiki/File:Anatomie_bouche.jpg
http://commons.wikimedia.org/wiki/
File:Leonardo_da_vinci,_Study_on_the_proportions_of_head_and_eyes.jpg
Sunday, May 4, 14

14. “Tell me where it hurts”
• “Everywhere, Doc!”
http://commons.wikimedia.org/wiki/File:Whites%E2%80%99_Physiological_manikin..JPG
Sunday, May 4, 14

15. This really happened
Hiya, Mom!
Excuse
me, what’s
your name?
Sunday, May 4, 14

16. Things I can’t do
• No doggie
kisses?!
(Finding
gluten-free
generic meds is
painful, too.)
Church is kind of
different now
Sunday, May 4, 14

17. Things I can do now that
I couldn’t before
• Remember
• Walk fast
• Run up stairs
• Can up a storm
• Go to concerts
• Party
• Explore the
neighborhood
Sunday, May 4, 14

18. PF Anderson,
pfa@umich.edu
Sunday, May 4, 14