Understanding The Rare Disorder Pseudohypoparathyroidism

Understanding The Rare Disorder Pseudohypoparathyroidism

I can't eat peanut butter and apparently, I shouldn't be alive.
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Ever since 2006, I was diagnosed at age 10 with Pseudo-hypo-parathyroid-ism.

Hey, my name is Chris, I can't eat peanut butter and apparently, I shouldn't be alive. Research says that guys like me with Pseudohypoparathyroidism usually die before birth. Altogether, I'm alive but I can't eat anything with phosphates like nuts, wheat, dairy, dried fruit, and most green veggies. The doctors say I was Assymtomatic, or I didn't have all the symptoms or it wasn't that obvious that I have the disorder. Symptoms of my disorder are numerous, however, I barely have any of them.

You probably never heard of my disorder, and I don't completely represent a perfect model of my disorder but here is some research about the topic.

What is Pseudohypoparathyroidism?

My own breakdown of the word "somewhat underperforming parathyroid." What's the parathyroid? It regulates the amount of calcium in the body.

Fundamentally, it is a condition pertaining to the parathyroid where the phosphates I take in prohibits absorption of calcium. Without meds, my levels of calcium are low, while phosphate and parathyroid hormone levels are high. Because phosphates are the bad guy, I cannot eat anything with it, or at least eat low levels of those foods. Those foods include nuts, dairy, wheat, dried fruit, and greens like broccoli, brussel sprouts, spinach, and asparagus.

What do I take to treat it?

I take Calcitriol before every meal and take tums 30 minutes after (since Tums are pure calcium). I have the choice between a gross liquid and Tums, however, I have no clue as to what the liquid is since I haven't taken it since 2006.

Supports the absorption of calcium.

"Treats low levels of calcium and bone disease in patients whose kidneys or parathyroid glands are not working normally."

Also treats Hyperparathyroidism (too much parathyroid glands), Rickets (softening and weakening of bones in children caused by lack of vitamin D), osteomalacia (softening and weakening of bones in adults caused by lack of vitamin D), and familial hypophosphatemia (rickets or osteomalacia caused by decreased ability to break down vitamin D in the body).

Symptoms:

Headaches, Stiffness or Cramps in the arms or legs, Blurred vision, Stomach aches, Lazy, Lethargic, Sensitive to Light. Seizures might occur in childhood; teeth with low enamel might erupt later in infancy.

How did I get it?

One of my parents X chromosomes

In X-linked dominant disorders, the female with only one X chromosome affected will develop the disease. However, the affected male always has a more severe condition. Sometimes, affected males die before birth so that only female patients survive. As a result females with the disorder more than double the number of males with it.

***Apparently I'm a miracle child; I'm a male with this disorder, which apparently is unlikely since most of my kind die at birth.

***My mom and dad have nothing like my condition so I must have had the gene but it was dormant (or not visible). But now I know that the one X gene I have has the disorder.

FLASHBACK TO BIO CLASS

Males= XY Females=XX

As shown below, if dad has it, only female offspring have the disorder gene. (in this case red means the X carries pseudohypoparathyroidism.)

As shown below, if mom has it, either a girl or a boy offspring has the disorder gene.

What happens if I don't take the Calcitriol?

Fog-brain, Stomach aches, Cramps, Painful peeing, Kidney stones, Death.

Fog-brain- my family's definition of the inability to think straight.

Stomach aches- they're inescapable, they're a side effect of Calcitriol, and a symptom of Pseudohypoparathyroidism, however, there's fewer stomach aches when taking Calcitriol.

Cramps- Occur if the medicine isn't taken in a matter of months.

Kidney Stones- I assume they occur after a half a year of not taking meds.

Death- May occur after a few years or so without meds.

What might happen if I do take Calcitriol (aka 'what are the side effects')??

  • weakness
  • headache
  • upset stomach
  • dry mouth
  • muscle pain
  • bone pain
  • metallic taste in mouth
  • difficult or painful urination
  • changes in vision
  • lack of interest in the things around you
  • feeling tired
  • lack of energy
  • fever or chills
  • stomach pain
  • pale, fatty stools
  • yellowing of the skin or eyes
  • runny nose
  • decreased sexual desire
  • irregular heartbeat
  • rash
  • hives
  • itching
  • difficulty breathing or swallowing
Cover Image Credit: Pexels

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1. Uniforms

Plaid. The one thing that every private school-goer knows all too well. It was made into jumpers, skirts, shorts, scouts, hair ties, basically anything you could imagine, the school plaid was made into. You had many different options on what to wear on a normal day, but you always dreaded dress uniform day because of skirts and ballet flats. But it made waking up late for school a whole lot easier.

2. New people were a big deal

New people weren't a big thing. Maybe one or two a year to a grade, but after freshman year no one new really showed up, making the new kid a big deal.

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4. You've had the same teachers over and over

Having the same teacher two or three years in a row isn't a real surprise. They know what you are capable of and push you to do your best.

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6. Your hair color was a big deal

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Your school is the best of the best at most sports. The teams normally go to the state championships. The rest of the school that doesn't play sports attends the games to cheer on the teams.

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I Grew Up With A Special Needs Sibling, And It Changed How I View Relationships

The battle is still ongoing, and I have no intention of losing.

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"Is she the one with an autistic brother?"

"Oh my god, things must have been so tough for your family!"

"Your brother is not as bad as I initially thought. There are much worse cases out there."

As a child, I grew up hearing all of these things from the adults around me, and it's sickening. For as long as I can remember, I always had teachers casting pitiful glances at me and giving me words of consolation throughout my elementary school education when my brother enrolled.

As a special needs child, my brother requires consistent supervision. During his teenage years, he was never left alone— only recently did my parents decide that it was time to let go and see how far he could go.

Children can't possibly be sheltered forever. Otherwise, they won't be able to survive in this society. Even a special needs child is not an exception. My parents understood that all too well.

I have a complicated relationship with my brother. I would go many extra miles for him, and I have zero tolerance for anyone who dares to insult him or my family. I won't hesitate to shut anyone down if they ever cross that line.

However, looking at my brother does spark something in me. I grew up with the heavy weight of responsibility, and I felt the need to make up for every one of his limitations.

Just in case you assume that my parents forced this mindset upon me, they didn't. Not at all.

The reality is, when you grow up with a special needs child, you feel the need to grow up quickly. When my brother is unable to fend for himself, I have to be the strong one. I have to be more mature than peers my age. Naturally, this caused me to develop traits like striving for perfection, independence, strength and empathy.

The imperfections of humans are often magnified, and needless to say, a special needs child certainly sticks out like a sore thumb in public. People would try to console my family, as if having a special needs child was like having poison. At times, their hypocrisy disgusted me to the core.

The highs are high, and the lows are low. The thing about being a family is that we always encourage and push one another to be the best version of ourselves — even when things go utterly wrong.

Having a special needs sibling does have its fair share of "bad moments," but that doesn't mean that the familial love and bond can be extinguished.

For me, the hardest part isn't the reality of having a special needs sibling. It is the thought of committing to having children one day. There are women who are afraid of marriage and commitment due to the fear of being cheated on.

However, for myself, my concerns are on a whole different spectrum. I can't envision marriage and having children like other women, no matter how hard I try.

I have witnessed how much my parents struggled with the disciplinary component for me and my brother. They tried their very best to be fair, and they had to use different methods for both of us. Back then, it was difficult to understand the difference in treatments.

Undeniably, my years growing up were filled with love. But they were also mixed with loneliness from time to time.

Having children should never just be an item on your bucket list, not unless you are dead certain that you're ready for the commitment. As a parent, you don't give up on your child no matter what he or she does. You don't give up, even if they don't take your advice. You don't give up, no matter how much they piss you off.

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Escapism is unforgivable, and it's cruel to the child. So, unless I am confident enough in my decision — and able to overcome the fear of commitment — marriage and having children will never be on my bucket list.

There is still more to life I'd love to explore first.

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