Help Alexandra Cope with her Rare Disease

Hello everyone, my name is Michael, and I am here to ask for help for my sister Alexandra DiVincenzo. Nineteen years ago, we welcomed her into our family and I was so excited to be a big brother. We knew she was going to change our lives forever, but what we didn’t expect was we were all on a journey... a journey of coping with a child with a rare disease.


Our first Christmas with Alexandra was spent in hospital, which was the first of many emergency room visits and hospital stays. By the time she was 9 months old, Alexandra was diagnosed with Cutaneous Mastocytosis, a rare disease caused by an excess of mast cells within the skin. Although mainly a skin disease, Mastocytosis can affect the bones, stomach, and intestines among other things. Having too many mast cells can cause multiple issues including:

·      Anaphylaxis
·      Skin rashes
·      Flushing
·      Allergic reactions
·      Fatigue

These are only a few of the many unpredictable symptoms that people with Mastocytosis can have. Alexandra has gone into anaphylaxis too many times to count from reactions to medication and food, to climate change, stress, and viruses/the flu. The issue with Mastocytosis is that she never knows what her triggers may be that day. Some triggers stay the same, but often her body decides to react when it wants to react. Simply stated: one day she may be “allergic” to strawberries and the next day she can eat them perfectly fine.


Over the years, with increasing visits to the Emergency Room, hospital stays and seeing specialist after specialist, she has been also diagnosed with having Ehlers-Danlos Syndrome (EDS) and Postural Orthostatic Tachycardia Syndrome (POTS), as well as the Cutaneous Mastocytosis—a trifecta of rare diseases. These diseases are so obscure that many doctors have never even heard of them let alone understand them.

Ehlers Danlos Hypermobile Type is a connective tissue disorder caused by a defect in collagen, leading to issues such as:

·      Hypermobile joints; leading to subluxations and dislocations
·      Chronic bone pain
·      Joint pain
·      Fatigue

This causes her to be in extreme pain on a daily basis, facing subluxations usually in the knees and shoulders. She has been referred to the EDS clinic in Toronto, but sadly it will take up to 18 more months to even get an appointment.

Postural Orthostatic Tachycardia (POTS) is a neurological disorder that affects her blood pressure and heart rate. When going from sitting to standing her heart rate rises exceptionally high and has hit over 180bpm when doing mundane tasks like walking around the house. Her blood pressure fluctuates from normal to low causing an array of symptoms including:

·       Heart palpitations
·       Blood flow issues
·       Dizziness
·       Brain-fog
·       Blood pooling in legs and feet
·       Chest pain
·       Fainting
·       Exercise intolerance

An intolerance to the standing position is formed, impairing her from doing everyday activities.

When one gets worse, they all get worse, leading to a constant cycle. Along with these three disorders/issues she also has IGA deficiency, a protein that helps fight infection making her more susceptible to colds, coughs, and flus which in turn flare up her Mastocytosis, Pots, and EDS.

She has become unable to exercise due to adverse reactions such as her heart rate going to high leading to flushing and mastocytosis episodes that can last weeks or cause anaphylaxis. She is also prone to sub and dislocations with doing the wrong types of exercises. The only time she is remotely able to exercise is in a pool due to the water lowering her body temperature helping to regulate her reactions.

She also has scoliosis and has struggled with anemia. 


The medications and other medical equipment needed to help her live her daily life to the fullest is extremely costly. The money you will donate will help her in purchasing:

·      Her medications are approximately $25,000/year with a portion being covered by government assistance.
·      Supplements (salt pills, vitamins)
·      Air filtration system to help reduce airborne allergens
·      Physiotherapy, Chiropractor and Naturopath appointments
·      IV saline therapy
·      Compressions (leggings, socks, etc.)

She is currently a full-time university student who has been unable to work due to her high-risk nature during this pandemic leaving her unable to save money while attending to her costs of schooling, rent, food, and medication to name a few.

With her beginning more costly medications this month we are unable to cover the costs. She has not been able to purchase most of the items listed above due to them being too expensive for our family to afford. 

Thank you all for taking the time to read this and thank you for those who have donated… we appreciate you.

1.     https://www.mastocytosis.ca/en/mast-cell-disease/mastocytosis

2.     https://my.clevelandclinic.org/health/diseases/16560-postural-orthostatic-tachycardia-syndrome-pots

3.     https://www.ehlers-danlos.com/what-is-eds/

4.     https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/selective-iga-deficiency

5.     https://www.ehlers-danlos.com/one-gene-mutation-links-three-mysterious-debilitating-diseases/