BluJem79's interview
1p36 Deletion Syndrome
22q11 DiGeorge Syndrome
Anxiety
Aortic aneurysm
Arterial Tortuosity Syndrome
Asthma
Atopic Dermatitis and Eczema
Bipolar Disorder
Brain Tumor
Chronic Fatigue Syndrome / M.E.
Cirrhosis
Depression
Gingivitis
Hiatus Hernia
Hydrocephalus
Learning Disability
Loeys Dietz syndrome
Migraine
Mitral Valve Prolapse Syndrome
Neonatal Herpes
Obsessive Compulsive Disorder (OCD)
Osteoporosis
Pectus excavatum
Psoriasis
Social Anxiety Disorder
Error
How did all start?
Born (6th child) 1mth prem with multiple health issues... Pectus Excavatum, Umbilical Hernia, Narrow Wind Pipe, Heart Murmur , Shoulder Dislocation, General Joint Hypermobility, etc.
Do you already have a diagnosis? How long did it take you to get it?
Was originally clinically diagnosed in 2008 with EDS Classical... (Ehlers-Danlos Syndrome - & I thought ' this so makes sense!')... then with the many other issues that I was continually being diagnosed with throughout the following years, such as... (multiple heart abnormalities - aneurism/mitral valve prolaps/AF, etc - hydrocephalus, pineal cysts, osteopenia, etc.)... got to finally be genetically tested for proof of diagnosis & test came back positive for Loeys-Dietz Syndrome 2. It now made even more sense, like the last pieces of a huge puzzle but it was also frightening to receive that news. So, my whole life I was the sick, tired, weak, 'double jointed' & just 'different one' from the rest & now I had a reason/understanding of why I was the way I was... Yesss! But Ohhh Nooo!! So yeah... Diagnosis was years in the making.
For what medical specialties have you been treated? What has been the most useful specialty for your?
At this point in time I mostly appreciate my thoracic surgeon who corrected... (to the best of his abilities)... my pectus excavatum as this was something that was horrifying to live with... (was the most extreme they'd ever seen). Also for the surgeons who fixed my herniated areas & all involved in diagnosing the abnormalities I have, so I... (well they)...can hopefully remedy the problems before they cause trouble.
What has been the most useful thing for you so far?
Finding out my correct diagnosis's so medical experts & myself could get the proper help/tests/meds etc. to treat the different health problems I have/do & will encounter.
