posting one rare disease every day!

While leukemia itself isn’t rare, some of its subtypes are - including acute myeloid leukemia (AML). Today would have been Zuza Beine’s 15th birthday - a content creator many of us knew well. She suffered from AML, and it was the disease that ultimately, unfortunately, took her life.

Rarity: heavily tied to aging - less than 1 in 100,000 in people under 40

AML is an aggressive blood cancer that starts in the bone marrow and rapidly produces immature, malfunctioning white blood cells.

It originates from myeloid stem cells. Instead of developing into healthy infection-fighting or oxygen-carrying cells, they become cancerous "blasts". These blast cells accumulate quickly in the blood and marrow, leading to marrow failure.

It is the most common acute (fast-moving) leukemia in adults, though it can occur in children (like Zuza, who first developed it when she was three). The risk rises with age and is commonly diagnosed in individuals over 65.

Symptoms:

- Anemia (low red blood cells): extreme fatigue, shortness of breath, and pale skin

- Neutropenia (low functional white blood cells): frequent or recurring infections and unexplained fevers

- Thrombocytopenia (low platelets): easy bruising, frequent nosebleeds, and tiny red dots on the skin (petechiae)

Diagnosis:

- Blood tests, like complete blood count (CBC) and peripheral blood smear

- Bone marrow aspiration and biopsy

- Cytogenic and molecular testing: dictate the specific subtype of AML

Treatment:

Treatment is typically split into stages.

1. Induction therapy: intensive chemotherapy designed to kill the leukemia cells in the blood and bone marrow and put the cancer into remission

2. Consolidation therapy: additional chemotherapy or targeted therapies to destroy any remaining cancer cells and prevent relapse

3. Stem cell transplant: often recommended for high-risk patients to replace diseased bone marrow with healthy stem cells

July is also sarcoma awareness month, so I thought it would be an appropriate condition to discuss!

Rarity: approx. 1 in 5000 people

Sarcomas are rare cancers that grow in the body’s connective tissues, such as muscles, fat, bones, and cartilage. There are over 70 subtypes, but they all fit into two main categories - soft tissue sarcomas and bone sarcomas.

Soft tissue sarcomas:

Soft tissue sarcomas develop in the soft, supporting tissues of your body.

- Liposarcoma: this tumour begins in the fat cells. It often grows in the thighs or the back of the abdomen.

- Leiomyosarcoma: this cancer starts in smooth muscles, like those in the stomach, uterus, and bladder.

- Rhabdomyosarcoma: this develops in the skeletal muscles. It’s more common in children.

- Angiosarcoma: this cancer grows in the cells lining your blood vessels or lymph vessels.

Bone sarcomas:

- Osteosarcoma: this usually forms in the long bones of the arms or legs.

- Chondrosarcoma: this tumour develops in cartilage.

- Ewing’s sarcoma: this is a very aggressive sarcoma that can start in either bones or the soft tissue around them. It’s most commonly seen in children and teens.

Symptoms:

- Soft tissue sarcomas often start with no symptoms at all. As they grow, they can lead to a lump or swelling - either painless or painful.

- Common symptoms of bone sarcomas are localised bone pain, swelling, or a bone that breaks for no apparent reason.

- Gastrointestinal stomach tumours (GIST) are a type of soft tissue sarcoma in the digestive tract; they can cause belly pain, aching, or vomiting.

Common treatments:

- Chemotherapy

- Radiation therapy

- Ablation therapy

- Surgery - when it comes to limbs, surgeons try to save the arm or leg.

Resources:

- Mayo Clinic - symptoms & causes of sarcoma

- Cancer Australia - sarcoma

- To look up more types of sarcoma, take a look at Sarcoma UK or Brigham and Women’s Hospital.

Social media:

There are a ton of great pages out there talking about sarcoma.

- Michelle Hughes - incurable sarcoma warrior, mom & triathlete (ultra-rare form of sarcoma called EHE)

- Bridget Korn - 14-year-old osteosarcoma survivor & amputee + fantastic volleyball player

- Abri Bentley - 18-year old Ewing’s sarcoma survivor & amputee - talks about chronic illness + the long-term side effects of treatment (this page isn’t too active, as Abri is, unfortunately, battling quite devastating illness herself)

July kicks off fragile X syndrome awareness month, so I thought it would be an appropriate first post!

Rarity: approx. 1 in 5000 people

FXS (or Martin-Bell syndrome) is caused by a mutation in the FMR1 gene, located on (you guessed it) the X chromosome. Normally, this gene produces a protein (FMRP) essential for brain development. In FXS, the DNA segment is abnormally repeated (over 200 times instead of 40), which "silences" the gene and prevents the protein from being made. It gets its name because, when you look at the X chromosome through a microscope, part of it looks broken (or ‘fragile’).

Fragile X syndrome occurs more frequently in boys because they have only one X chromosome. Their symptoms are also typically more severe. Girls have two X chromosomes - the condition might not affect both, meaning they can be carriers without having symptoms, but boys will always have symptoms.

The disorder is diagnosed through a DNA sample (taken from your blood/tissue). Boys are usually diagnosed by age three, as their symptoms are more severe - girls are diagnosed later on. You can also be diagnosed as an adult!

Physical features:

- A long, narrow face

- A large forehead

- A large jaw

- Large ears

- Very flexible/hypermobile fingers

- Crossed eyes (a ‘squint’/strabismus)

- A high-arched palate

- Enlarged testicles after puberty (in boys)

- Low muscle tone

Intellectual and behavioural features:

- Low intelligence quotient (IQ). IQ scores in fragile X tend to decrease with age.

- Delayed early developmental milestones

- Delayed development of nonverbal communication

- Delayed language development

- Learning disabilities

- Autism, ADHD, social anxiety, sensory disorders

Mental health problems:

- Anxiety

- Depression

- OCD

People with fragile X syndrome are at greater risk of sleep issues, seizures, aggression, self-harm, and obesity.

It’s a lifelong condition with no cure, but none of its symptoms are life-threatening - meaning people with the disorder typically have an average lifespan!

Resources:

I got my information from these sites - there’s also a lot more to learn, if you’re interested!

- CDC

- Cleveland Clinic

- Boston Children’s Hospital

- National Fragile X Foundation