An Addison’s Disease Story: Multiple Rare Diagnoses Often Means a Longer Waiting Game

Emily Dover 

This is Emily Dover’s story.

  • At birth- perfectly healthy newborn, smaller than her siblings (8 pounds)
  • 1 week- was having trouble sleeping and began crying in pain
  • 4 weeks- grew 4cm in 7 days
  • 4 months- size of a 1-year-old
  • Age 2- breasts started to grow and body odor and cystic acne developed
  • Age 3- excess body hair became present
  • Age 4- period started
  • Age 5- menopause symptoms began

Now, age 7, Emily is wearing clothing sizes 16-18, weighs over 10 stone, and appears to be more like a 17-year-old than a 7-year-old.

At first, Emily’s parents were told she was just growing because they were tall. However, Emily wasn’t just growing quickly, she was also facing consistent infections, bouts of sickness, and painful cramping. They were told by doctors that Emily must be getting viruses from being at daycare.

But Emily’s parents didn’t give up searching for answers. Her growth was documented as above the 99th percentile. The speed of this growth caused her near constant pain and Emily’s mom Tam fought hard to find her daughter not only an effective treatment, but a diagnosis explaining it all.

The Diagnoses

Emily faces sensory issues, swelling of her ankles and wrists, and extremely painful bone growth on a daily basis. Her bone age is almost 4 years above her true age. When tested, her hormone levels were equivalent to a pregnant woman. But test after test left doctors at a loss. They told the family that Emily’s condition was so complex that they couldn’t offer a “definite answer.”

“Tam compared her child to a human ‘guinea pig’ – saying her daughter has endured countless tests in order to find suitable treatment.”

Years after the search began, they finally received some answers. Emily was diagnosed with Addison’s disease ,which means that not enough steroid hormones are produced by the adrenal glands, central precocious puberty which causes puberty to begin too early, congenital adrenal hyperplasia, sensory processing disorder, autism spectrum disorder, and anxiety disorder.

Despite all of these ailments, Emily has stayed remarkably positive.

Learning Her Difference

Emily has come to understand that she’s different from other kids and sadly has faced bullying in daycare because of it. Her family is apprehensive about her starting primary school this year as she will meet more children who are not used to seeing Emily’s uniqueness.

Through it all her family remains her biggest support system. Emily’s parents know that she will replicate their reactions to situations so they do their best to stay positive and strong. They want Emily to feel as normal as she possibly can. They reiterate to her that it is okay to be different, and that everyone’s uniqueness should be celebrated.

Mom and dad say, “Despite everything, she is so happy.” They continue to do all they can to make life as normal for her as possible.

By sharing her story, Tam hopes that other families who have dealt with similar situations may be able to learn something from their experiences.

GoFundMe

After countless medical tests, doctors have finally found a few effective treatments for Emily. For instance, when she was 5 she began hormone replacement therapy. These injections are 1,455 dollars per shot. Her family describes costs of all of her therapies as “astronomical.”

Unfortunately, because both of her parents work, they are not entitled to health rebates and they must cover all of the costs on their own. This, in addition to the fact that they must frequently take off of work to care for their daughter, means finances are often a struggle.

So they asked for help and created their own GoFundMe. Thankfully, this GoFundMe has now been completed, successfully raising the funds the family needed.

Emily’s story is far from over, but at least she has received some answers and is getting the care she needs.

You can read more about Emily’s story here.


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