Rare Mom: The Other Shoe

I am the mom to a 12 year old with Albrights Hereditary Osteodystrophy, AHO.

According to the Genetic and Rare Disease Center, GARD, AHO is a rare metabolic syndrome created from a gene mutation.

It’s marked by a resistance to the parathyroid and thyroid stimulating hormones. AHO patients are short in height, have a round face, are obese, and have both widening and shortening of the bones in the hands and feet.

Hannah was diagnosed with it only three years ago. Her medical team was so busy through the years stabilizing her congenital hypothyroidism, Hashimotos and asthma that we all missed the symptoms, or dismissed the possible diagnosis because she wasn’t having joint pain or seizures.

Believe it or not, the AHO diagnosis wasn’t one of those memory markers in her life. Her endocrinologist told us we needed to have her on a low phosphorus diet and watch her calcium and phosphorus levels in our already frequent lab work. Her Vitamin D level increased at one point to 25,000, but once it fell back into acceptable levels, we kept her on 3,000 units. After all we’d been through, including doctor error with croup that nearly killed her and thousands of hours of therapies for developmental, speech and physical delay, being told she had AHO and to watch the labs seemed easy enough.

It was June 2015 when the shoe dropped and I learned AHO is much more than watching out for calcium and phosphorus levels with her lab work.

She was at her endocrine appointment where the doctor would explain the labs. Before we even started the doctor seemed distracted.

She asked if she could personally measure Hannah because the measurement the aide took showed no growth since the last appointment. When they returned, the doctor shared a tidbit of AHO no one had shared with me. Hannah’s bones had fused.

Once we had the X rays to confirm it, her bones are measuring her to be 17 years old. The fusion was so fast that the window to give her hormone stimulation for growth closed. At 4’8”, Hannah is at maximum height.

That revelation hit me hard. I am a voracious reader and with her other issues, a master at finding things online and having no problem sharing it with her team. I never saw anything on the bone fusion, and no one prepared us. We aren’t a tall family by any means, my husband and I are both 5’5” but to learn that there was no chance for her to grow…

it’s a sense of loss that no “normal” parent would understand

After that, I’ve been unable to be content between her appointments. The endocrine team has admitted that Hannah’s case is very rare to them. Her doctor has searched the globe for answers and admitted that puberty is a question mark when it comes to Hannah. Everything in her lab work and bones shows her to be in late teen years, but she is not yet 13. She hasn’t started menstruating. When the doctor asked if that should be stimulated with hormones she heard back that once Hannah starts, her bones will further fuse. What else could happen that I need to be on the lookout for?

Fair or not, accurate or not, I have taken that burden to believe it is all on me to know.

I’m writing out menus and measuring foods. Tracking calories. Keeping up with supplements and medicines and pushing exercise. AHO patients battle obesity. With that comes heart disease concerns, Type 2 diabetes, high cholesterol and more. At our last appointment I heard another shoe drop when her doctor asked if Hannah truly fasted before her labs. Her insulin levels were very high, much higher than ever. We now believe she is insulin resistant, and we’re in testing for that now.

Hannah takes all of this with a smile and “it’s okay” because that is who she is, and it is all she’s known.

I discreetly look to her because my attitude isn’t always as good. When we’re at church, I scan the room and gaze at her friends. I know they are getting taller. I notice. Hannah so far doesn’t.

It is grief for me, and then I feel guilty because there are families going through so much worse. I beat myself up when I can’t find information or read something that says the opposite of what I’m doing. I am afraid to truly let go, even if she has months between appointments, because I don’t want to be surprised again.

I secretly fear I am the reason she has these struggles.

I have endocrine issues and I prayed so hard that she wouldn’t have the trials I did with severe PCOS, endometriosis and hormonal imbalance. To me it looks like she has so much more to conquer, but she overcomes every obstacle every time.

Whatever shoe drops on her watch, she tap dances away with whatever life gives her.

She’s amazing and changing my perspective. When I think of rare, it’s her smile and attitude that is the first thought to pop in my mind. It’s the focus I want when another medical shoe drops, instead of thinking the rare part is AHO.

JulieAuthor: Article by Hannah’s mom, Julie Arduini. Check out her website and the books that she’s authored here.


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