- Nail-patella syndrome
- Interviews
AnneMarie's interview
How did all start?
I had undiagnosed pain since birth (1984), had my first (and only) child in 2015. He has had abnormalities such as finger/toenail differences, hyperflexability in hands, blocked tear ducts, nightly meds for migraines... Went to e.r. for urinary incontinence, ended up getting rads that showed fecal loading and iliac horns. He has recurrence of knee pain and instability thst has worsened since diagnosis September '19. Only a few months and big changes.
Do you already have a diagnosis? How long did it take you to get it?
I do not have insurance, so I haven't been diagnosed yet at 35y.o.
But my 4 y.o. is lucky enough to have diagnosis.
For what medical specialties have you been treated? What has been the most useful specialty for your?
PCP/pediatrician that has always listened and made note of my observations, and that is eager to research.
What have been your biggest difficulties?
Lack of education of doctors. Lack of resources.
How has your social and family environment reacted? Have your social or family relationships changed?
Social relationships are faltered. Nobody wants to hear what they think is overreaction of a hypochondriac. Some family listens but doesn't understand our daily issues. EXCEPT for the other undiagnosed of the family!
What things have you stopped doing?
Exercise
If you had to describe your life in a sentence, what would it be?
Limited by pain and instability.
Finally, what advice would you give to a person in a similar situation?
Do your own research and dont be afraid to present it to a doctor.
