Rare Illnesses please!

Hello everyone! I hope you are all well. The school year has started for me, and it is now my senior year. I am required to do a Illness Log for my CNA licensure this year, and I need some illnesses that are out of the ordinary.

I was wondering if anyone had any suggestions? I have found a recent one, I used it, it was AAD, Alpha -1 something disorder, it had to do with breathing issues, I found someone discussion it on here and said it was uncommon, so my teacher will be happy with that.

If you have any suggestions, PLEASE let me know, I need an illness per week, thankyou!:typing

What would you like to know about alpha-1 antitrypsin deficiency? It is associated with early-onset emphysema and liver disease. It is a disease in which avoidance of smoking and second-hand smoke is extremely important. Our geneticist told us that one single year of cumulative cigarette smoke exposure in a person with the alpha-1 antitrypsin deficiency genes will do enough damage to cause the early-onset emphysema, but the smoke exposure is not necessary for people with alpha-1 antitrypsin deficiency to develop the emphysema. A person can have one normal gene and one defective gene and still have deficient levels of alpha-1 antitrypsin. There are a quite a few of us walking around with an S or Z gene that have no idea until we have a family member diagnosed with alpha-1 antitrypsin deficiency. It's an interesting disease.

Scleroderma is pretty unusual. I have it so if you need help, holler!

Off the top of my head, I've looked after patients with:

catastophic APLAS (antiphospholipid antipody syndrome);

MELAS (mitochondrial enchephalomyopathy, lactic acidosis with stroke-like symptoms);

polychondritis;

Shy-Drager syndrome;

Castleman's disease;

Sjogrens syndrome;

Charcot-Marie-Tooth syndrome;

Ehlers-Danlos syndrome;

Budd-Chiari syndrome;

Friedreich ataxia;

osteogenesis imperfecta,

In case you're wondering how I have this list, I've made a rare and unusual disease information folder for work, with summaries about presentation, investigations, interventions, prognoses etc.

how about 'Happy Puppet syndrome'-- this name is actually obsolete--the more correct name is Angelman syndrome...

Myelofibrosis. My Dad just died of it this past spring. Pretty rare. If you need to know anything about it, just ask by pm. I am pretty well schooled on it. Diagnosed March 5, died 7 weeks later...

How about having a Patent Urachus? That's what happens when you have green drainage coming from your belly button. Surgery from umbilicus to bladder is the solution.

Stevens Johnson Syndrome

I work with a in paediatric hospice and long term care for profoundly disabled children, so we have a lot of rare disorders.

- Junctional epidermolysis bullosa (JEB)

- De-Grouchy syndrome

- Trisonomy 18

- Acacia's syndrome

- Mitochondrial disorders

- Muscular dystrophy

We also see a lot of kids with clusters of symptoms that have no name or specific syndrome. A few weeks ago we cared for a patient in hospice on respite who'd spent the last two months in ICU on mechanical ventilation. The third weaning off mechanical ventilation on to continuous VPAP. Her notes say that she can tolerate up to ten hours off the VPAP but the truth is it's more like ten minutes. She has a cluster of neurological symptoms that fit into no box. She's seventeen. The worst part? She watched her older sister suffer and die of exactly the same thing not two years ago.

how about 'Happy Puppet syndrome'-- this name is actually obsolete--the more correct name is Angelman syndrome...

"Happy Puppet" is certainly obsolete. It is known as Angelmans Syndrome now. I work in paediatric long term care and we have a little girl with this. She is an absolute joy to work with.

My husband was just diagnosed yesterday with uvulitis, lol. I guess you can have inflammation of just about anything, lol. I haven't looked into it yet but his Dr. said it's rare. Good luck!

achalasia

Let me know if you want/need any info about it -- I'm an expert, unfortunately!