Terminal Disease in a Teenager

Question

I’m trying to find the disease/condition my character is going through. She has been diagnosed with a terminal disease, most likely genetic, though not necessarily. She is in high school, so 15-17 years old. There are a couple requirements for plot reasons.

1) There aren’t many obvious outward symptoms, most of the other characters don’t know anything is wrong.

2) It is not cancer or mental health, just for personal reasons.

3) She remains partially active. While it’s debatable whether she can do rigorous exercises, she can walk, talk, and see normally.

4) It strikes relatively quickly. She remains healthy looking enough (there is some wiggle room there) until suddenly deteriorating during midterms and goes home over the two week break. While it’s obvious she is ill during midterms, the other characters are able to pass off most of it as stress, as she hides the worst of it from them. She goes home and worsens, dying over break.

5) She has been diagnosed and is aware she will not live long, preferably diagnosed recently, (a year or so) though that can be flexible.

6) It must be fatal today as she is from a relatively wealthy family in the current day.

7) It doesn’t require constant trips to the doctors office. Medication and occasional check ups and days off are fine, but she’s away at boarding school so there can’t be prolonged hospital stays over the occasional week and a half.

Thanks so much!

Answer 1

Creutzfeldt-Jakob disease.

Creutzfeldt–Jakob disease (CJD), also known as classic Creutzfeldt–Jakob disease, is a fatal degenerative brain disorder. Early symptoms include memory problems, behavioral changes, poor coordination, and visual disturbances. Later symptoms include dementia, involuntary movements, blindness, weakness, and coma. About 70% of people die within a year of diagnosis.

You have ruled out inherited diseases because of her recent diagnosis. Most non-cancer diseases that affect organs (viral myocarditis or fulminant hepatitis) can be cured with transplant and a first world teen would get a transplant.

You can't transplant the brain. Creutzfelt-Jakob disease kills within your timeframe and its neurologic manifestations vary tremendously from person to person, so you can make them what they need to be for your story. Maybe she is initially disinhibited and a little euphoric. It is a weird disease caused by prions - contagious misfolded proteins. Related diseases include mad cow disease. CJD can be sporadic, or you might have her contract CJD thru contact with an infected animal. That could give energy to the story - perhaps she had friends on a summer program where they came into contact with an infected cow, and her friend caught the same thing but is deteriorating faster as evidenced by her communications thru the course of the story.

She will not need to see the doctor a lot. There is no treatment.

Answer 2

Other than the fact that the disease needs to be fatal, I'd say a disease like carnitine palmitoyltransferase II (CPT2) deficiency would fit your requirements. I've sourced a lot of my information from here, but I've also taken some information from a recently streaming show on Netflix called Diagnosis, specifically the first episode.

CPT2 is essentially a genetic disorder that keeps your body from processing fats. There are three forms of this disease, two of which are fatal or near-fatal and show up while the carrier is still an infant. The third form, the myopathic form, is the least severe and usually doesn't present symptoms until adolescence. This form would almost perfectly fit with your ill character.

"This form is characterized by recurrent episodes of muscle pain (myalgia) and weakness and is associated with the breakdown of muscle tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein called myoglobin, which is processed by the kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. This protein can also damage the kidneys, in some cases leading to life-threatening kidney failure. Episodes of myalgia and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme temperatures, infections, or fasting. The first episode usually occurs during childhood or adolescence. Most people with the myopathic form of CPT II deficiency have no signs or symptoms of the disorder between episodes." (Genetics Home Reference).

In many real-world cases of this disease, the myopathic form has been shown to have a devastating impact on the carrier but once diagnosed, it is relatively easy to manage. Since their bodies can no longer process fats, people with CPT2 will typically supplement their energy intake with lots and lots of sugar and protein. In a normal person, sugar, or glucose, is the primary source of energy, while fats stored throughout the body are a secondary source only used when the body has run out of its quickly metabolized source of sugar. Since CPT2 patients' fat stores are completely useless when it comes to metabolization, energy must be supplemented from elsewhere. Many of those diagnosed with CPT2 may find it beneficial to keep several low-fat candy bars on hand at all times for when they begin to feel the onset of their excruciatingly painful symptoms.

Now for an in-depth look at the symptoms of carnitine palmitoyltransferase II (CPT2) deficiency:

• Myalgia: This symptom is the severe and agonizing muscle pain that results from the patient's body breaking down muscle tissue to use as an alternate energy source since its fat stores are now utterly useless for the same task. This breakdown of muscle is called rhabdomyolysis.
• Myoglobinuria: This next symptom is a result of the myoglobin found in muscles being processed by the kidneys. Myoglobin, in this case, could be described as microscopic needles tearing through the bloodstream of the unfortunate individual: horribly painful. Upon reaching the kidneys, the myoglobin enacts similar havoc on the filter organs until it is eventually processed out and excreted through the urine. The myoglobin in the urine results in the patient's pee looking somewhat like coffee grounds upon exit.
• Kidney failure: Just as described above, myoglobin is not meant to be processed en masse by the kidneys. The normal amount of myoglobin in the bloodstream is less than 90mcg/l (micrograms per liter). Most people with CPT2 have around 5000mcg/l and in some severe cases can have upwards of 30,000. If left untreated, kidney failure is inevitable.

Answer 3

Not quite a disease, but maybe a brain aneurysm? It can kill, or otherwise severely debilitate rapidly, can be undetected for long periods, and doesn't impact abilities until it strikes (although for your story, could have been detected a while back, is being monitored, or whatever).

I'm not up to the biology, but propensity to have an aneurysm could be genetic, and presumably could be in a particularly awkward part of the brain where treatment is risky or impossible.

https://www.nhs.uk/conditions/brain-aneurysm/

Answer 4

Cystic fibrosis - which can be genetic - can be diagnosed in teens if it wasn't picked up via screening at birth, and cause death in twenties. Money won't save you.

I knew someone who was cycling long distances literally until a few months before she died.

It affects 1:3000 white newborns, while it is less likely in other groups.