I Love Someone Rare
Each February I try to write about our situation in case there are new readers who might not know, or perhaps they are living something similar and could use the encouragement. When I got sick from drinking the bottled water on the Mexican cruise, I was told I was one in 10,000. I had similar stats when it came to my PCOS severity. Then, when I had a reaction to the spinal in my c-section, I was told how rare it was. I laughed and said, “What can I say? I’m one in a million.”
Little did I know not long after that c-section, we would be thrust into a new normal. Once her breathing issues stabilized and her thyroid condition was receiving consistent monitoring, we were asked if we’d ever been asked about Albrights.
Nope, never heard of it. With that, we moved on to the more pressing issues at hand.
Years later, a specialist looked at our daughter’s hands and once again asked about Albright’s. She ordered an x-ray and additional lab work. Then we were told to visit genetics. It was there we were told between the x-ray, labs, and history, she most likely had Albrights Hereditary Osteodystrophy, AHO. Although additional testing was offered, he admitted it was expensive and whether I agreed or not, they were going to treat her as an AHO patient.
And that’s where we are.
Albright’s hereditary osteodystrophy
Other Names: AHO; Albright hereditary osteodystrophy; Pseudohypoparathyroidism with Albright hereditary osteodystrophyCategories: Congenital and Genetic Diseases
Summary
LAlbright’s hereditary osteodystrophy (AHO) is a rare disorder with a wide range of signs and symptoms, including short stature, obesity, round face, subcutaneous ossifications (formation of bone under the skin), and short fingers and toes (brachydactyly).[1][2] When the disorder is inherited from the mother, the features of AHO can be associated with resistance to certain hormones, in particular the parathyroid hormone (PTH). This is called pseudohypoparathyroidism type 1a (PHP1a). When inherited from the father, an individual will have AHO without any hormone issues, which is called pseudopseudohypoparathyroidism (PPHP).[2] This condition is inherited in anautosomal dominant manner due to a mutation in the GNAS gene.[1] Treatment consists of calcium and vitamin D supplements. If there are high levels of phosphate in the blood, it may be recommended to eat a low-phosphorous diet or take medications called phosphate binders to help lower the levels of phosphate.[3]
https://rarediseases.info.nih.gov/diseases/5770/albrights-hereditary-osteodystrophy
For us, we’ve learned her situation is so rare that our specialist has consulted with doctors in Italy for information on the teenaged and adult years. We learned that bones can fuse and stunt growth—only after it happened. While many patients are able to have growth hormones and enjoy further height, that wasn’t for our daughter. Her bones registered at age 18 when she was 12, and she is 4’9″. We are not a tall family, so that helps, but she sees her friends growing. It is often the one remark they make when defining her. However, most see it as cute and helpful, not anything else.
The last year was definitely complex as puberty is a question mark. We don’t know what to expect with cycles and other hormonal issues. She receives regular lab work, about 5 vials worth, to check so many levels and systems. The most important are calcium and phosphorus levels. If they are off, she could experience joint tingling, numbness, and seizures. Thankfully, that has not happened.
I try not to read too much on everything, because it’s easy to get overwhelmed and lose faith. Because before she was born, God clearly promised this child would be an overcomer. I’ve learned to trust that, and also let go of what that might mean. He’s demonstrated it over and over in her 15 years, and I know He’s not done.
I don’t know what the future holds for AHO, I know there are two major hospitals in the US that are studying AHO. I do know this, our overcomer is one in a billion. We’re blessed to have her in our lives.
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Jazmin’s a natural at dance until a series of changes make her wonder if she should even keep up with her favorite hobby.
Lena’s a mom with young children overwhelmed with her schedule when a woman remarks that what Lena does isn’t even important.
Both Jazmin and Lena belong to Linked, a mentoring ministry where all ages encourage each other and build friendships.
Can these two surrender the lies they are believing and realize they are amazing?
A novella for tweens, teens, and women of all ages by mother and daughter team Julie Arduini and Hannah Arduini.
