#rarediseases

BE YOUR OWN MEDICAL DETECTIVE

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✨Drs want to see INVESTED INTEREST. Patients need to be prepared for appointments and lab results WILL show if youre not putting in effort. Patterns are established, diagnoses can be made. That including drinking and drug use. Be a trusted patient. Trust has to go both ways. Don't trust your doctor? Switch!!

✨Be ASSERTIVE-PERSISTANT-AND POLITE

✨Pharmacists DO have favorite patients who call in and they will do favors usually for those who are consistently polite! Treat others how you want to be treated

✨If your dr is resistant, enlist a friend or family member. Call in charge nurse. Enlist Social workers!! Don't forget about RISK MANAGEMENT. You have a right to make FORMAL COMPLAINTS.

"Please comply with me within my care"

✨It IS unethical AND impossible for doctors to know all. Remain patient, self research.

✨Have ALL medical records. Keep a binder with a medical ID card. Dont forget to include latest prescriptions!

✨WRITE DOWN WHO YOU SPEAK TO.

If needed, you can always call local med association and state board US department of Health and Human Services!! You must know your rights as a patient!

✨Cant make an appointment? Are they busy? Ask for Practice Manager! Remember to ask for cancellation list!

✨If you dont recognize the generic FDA approved medication name or identical bioequivilant brand name? ASK.

✨Shape, Size, & Color of pills can change within MONTHS

✨Medical errors are higher on WKNDS, NIGHTS, & HOLIDAYS.

✨Ask if your procedures are necessary!! Sometimes its just for Financial Motivation to run tests, procedures and surgeries!

I hope you guys find this helpful!

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October is Dwarfism Awareness Month! but I really have dwarf pride. So Im calling it Dwarf Pride Month. I am very happy to be three feet two inches tall, I have a very rare form of Dwarfism called Morquio Syndrome type A, in scientific terms I have Mucopolysaccharides IV A.

WHAT THE HECK IS THAT? Let me tell you...Ok breathe in and out. It is a bit complex and feel free to ask me to explain in more depth.I have an autosomal recessive genetic disorder caused by the deficiency of GALNS enzyme due to mutation in the GALNS gene.Which causes a large accumulation of Keratan Sulfate in my cells and tissues. This Keratan Sulfate caused me to be short in height, hard of hearing (I wear Hearing Aids), cornea cloudy (I wear glasses), ligament laxity (which means my joints aren't stable and I sometimes wear tape or braces to stabilize the joints) and much more.

How did you even become this lucky person to have Morquio Syndrome? I am so glad you asked.Both my parents unknowingly carried an abnormal recessive gene on their chromosomes. Both my Mother and my Father had to be carriers for me to be affected.

BUT Your older and only brother is six feet tall?... How?...That is because my parents had a 25% chance of their child being affected. I was the lucky one.

When did your parents know they were carriers?Not until I was diagnosed. See When I was born I was slender and tall. Absolutely nothing was alarmed about the birth of me. I fell when I was a year old baby and didn't recover on my own. I needed surgery. It wasn't until I was almost two years old the doctors figured out I have Morquio syndrome. My parents didn't see many signs of this disease affecting me until I was about 3-4 years old. I hit all the milestones that a typical baby hits and was a happy active baby. 

How were you diagnosed? I was diagnosis via skeletal x-ray and urine. In the urine they did a glycosaminoglycans analysis. This is where the extra keratan sulfate was noticed. 

How Rare Is Morquio? It affects about 1 in 200,000 births equally in males and females. Not every person with Morquio syndrome manifests the disability the same way. Some have it more on the mild side and some on serve side.  

I see you mention hearing aids earlier but don't you use a wheelchair? Does that mean you can't move your legs? Great question. I can move my legs, I go to physical therapy every week to stabilize my joints and get stronger. I also use a bicycle and sometimes a walker. I love swimming too so don't let my awesome power wheelchair fool you into thinking I can't be active. Just like I wear hearing aids to help me hear better but I still love listening to music. My glasses help me see but I still love looking at art work in museums. I've a service dog to help me in public but that doesn't mean I can't go out in public on my own. Often times my mother is with me but she doesn't speak for me and I am not glued to her body.

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