Rick Keller

I remember vividly Gary Oldman’s performance in ‘The Professional’.

Acquisition of knowledge, sharing it, and doing good with it are chief reasons for being on Earth, in my humble opinion.

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Thank you, Jo! 💛

Thank you, my friend. 💛

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Hi, thank you for sharing you story. My best advice to anyone searching for answers to an unexplained medical condition: keep consulting and searching for a doctor with an interest in your case.

Thank you, Martha. 💛

Thank you, Hibby! 💛

Thank you, Robin! 💛

Thank you, my friend. 💛

Thank you, my friend. 💛

My clinical evaluation will be ongoing with the possibility of starting another therapeutic, or enrolling in a new clinical trial, down the road. Hence, my secondary goal in this new stage is to acquire and share additional knowledge with the hope that it helps other families with HPP.

(10/10)

Although STRENSIQ replaces the missing enzyme, there is no cure for HPP. My chief concern and rationale for starting this treatment is to improve my bone density enough to reduce my risk for vertebral fractures, which can be physically disabling.

(9/10)

Thankfully, I have good commercial health insurance that I’m hoping will cover most, if not all, of the costs. I’ll know more about coverage soon.

(8/10)

This drug is manufactured by #Alexion ( #AstraZeneca pharmaceuticals) and dispensed by a specialty pharmacy for the entire US. It’s an exorbitantly expensive drug. Depending on body weight, a year’s supply of STRENSIQ can cost up to $2.5 million.

(7/10)

A vial of a medication.

Thankfully, a specific treatment is available for HPP. My Endocrinologist offered a trial of replacement recombinant enzyme, called #STRENSIQ (asfotase alfa), which I’ve enthusiastically accepted.

(6/10)

The sole manifestation of my disease is severe unexplained osteoporosis — a major risk factor for vertebral and femur fractures.

(5/10)

Thankfully, my specific form of HPP is far less severe than the childhood form of this disease. Overall, I feel fine, normal, supremely active, and healthy.

(4/10)

Illustration of a mutated segment of DNA.

This specific gene mutation for the ALP enzyme has not yet been officially identified as being pathogenic for HPP. Hence, unchartered territory.

(3/10)

Based on my results, I have a gene mutation (likely inherited from my mother, who also had severe osteoporosis) that causes a deficiency in a key bone enzyme (alkaline phosphatase, ALP) that’s responsible for creating the bone matrix (hydroxyapatite) in the skeleton.

(2/10)

Bone architecture in healthy bone and in bone with osteoporosis.

⚕️🧵 Hi friends, my lengthy diagnostic evaluation into the cause of my #osteoporosis has reached its conclusion. This week, I met with my Endocrinologist, who confirmed the clinical diagnosis of #hypophosphatasia (HPP) — a rare disorder that causes poor mineralization of the skeleton.

(1/10)

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Hi Alon, I didn’t read the article. Nonetheless, The Economist is garbage.

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Wow, Doctor. I love your spirit and joie de vivre. 💚💚💚