A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 2)

Before you continue reading, make sure to check out Part 1 of Katie’s story. 

True Precocious Puberty: The First Official Diagnosis

The endocrinologist first ran a blood test, later followed with a hormone injection and monitoring. Ultimately, these tests found that Katie was about ready to begin her menstrual cycle; this led to a diagnosis of true precocious puberty, a condition in which puberty begins too soon in children. Looking back, Sharon can now see that there were clues when Katie was growing up, sharing:

“Between 18 months and 2 years old, Katie grew six inches. She began falling down a lot when she was two years old, which led to an MRI to evaluate whether she might have a tethered spinal cord. Two months later, she had grown another two inches. Everyone was kind of dumbfounded. From seven to eight years old, she grew 4.5 inches and was taller than any kid in her grade, even though she was a year behind.”

While some parents don’t treat precocious puberty, this lack of treatment can be linked to shorter stature. In Katie’s case, without treatment, doctors estimated that she would be 4’11”. So the Brown family treated Katie with Lupron for just under two years. Since treatment, Katie has grown to 5’5” and is now the tallest woman on their side of the family.

Even though Katie has another rare genetic condition, this has also not been linked to precocious puberty. Doctors are still unsure of the cause, though they know that it is not linked to her pituitary tumor; the only impact of her pituitary tumor is central hypothyroidism, which is being treated with medication.

Understanding Epilepsy

In the midst of learning about Katie’s precocious puberty, doctors also diagnosed her with epilepsy as she had focal seizures; she began taking anti-seizure medication when she was eight and a half years old. Katie had to change medications more than once due to bad side effects. Says Sharon:

“Sometimes she would hear voices as though people were whispering, like the house was haunted. Our house is most definitely not haunted. If you look up focal seizures, auditory hallucinations are common. With medication, her auditory hallucinations have stopped completely.”

Katie explains further, saying:

“I felt like I could hear a man and a woman whispering in the hallway. It made me afraid that if I fell asleep, someone would watch me. Another time, I was in bed facing my closet. My night light was on, and I saw what I can only describe as a shadowy creature of some sort. I looked to the right of my white board, looked back, and it was gone. It really scared me!”

During this time, a geneticist ran some tests, but everything came back normal. With no family history of epilepsy, and with their neurologist retiring, the Brown family was transferred to another neurologist. This is where problems began. Sharon felt that Katie was having brief absence seizures; Katie would fall on the floor or the stairs with seemingly no cause.

The new neurologist, however, didn’t believe the family and were very dismissive of their concerns. Instead, the neurologist focused on other “issues,” sending Katie to an orthopedist to evaluate for different length legs (the orthopedist found no problems) or cutting down Katie’s medication in one day without tapering. To others facing a similar situation, Sharon urges:

“Don’t be afraid to change doctors if your doctor isn’t listening to you. Find someone who takes you seriously. It makes all the difference.”

In her spare time, Sharon frequented Facebook. Her search brought her to the concept of whole exome sequencing. She shares:

“I decided to just go do it, whether insurance covered it or not. We needed to find out answers because nobody was helping Katie. I had nothing to lose. I’d either be left with what we already had, which was nothing, or an answer.”

Pursuing Whole Exome Sequencing

Sharon brought the idea to a doctor from the Mayo Clinic, who agreed that it was worth pursuing. The family left the neurologist, ran whole exome sequencing, and pursued help from a new doctor in Orlando. Sharon shares:

“When I got to look at her EEGs, I was stunned to see that they all read ‘left temporal lobe epilepsy.’ Nobody had listened to me when it was right there. Why was I sitting there arguing with doctors when the answers were in front of me? Doctors don’t want to believe you sometimes, especially if you’re a woman. Concerns are written off as anxiety or stress or hormones. You shouldn’t have to argue and fight to get someone to just listen.”

Around this time, Katie was also diagnosed with moderate ADHD, processing issues, and a severe math disability. It was hard for Sharon to watch Katie come home every day from school in tears because she didn’t understand the numbers. At the same time, Katie excelled in reading and language comprehension.

At first, whole exome sequencing came back with no results. Two years later, while working with a geneticist at the University of Florida, the family re-submitted the tests. This time, Katie was diagnosed with ZMYM2-related disorder resulting from de novo (spontaneous) gene mutations.

What is ZMYM2-Related Disorder?

Right now, there is still little known about ZMYM2-related disorder. There are around 100 people in the world living with ZMYM2-related disorder. Of these, there is only one family with multiple cases; everyone else is the only person in the world with their specific variant, which makes it difficult to study. ZMYM2 mutations were not even considered pathogenic until a few years ago.

What we know is that ZMYM2 encodes for the production of a zinc finger protein that works in different bodily functions such as cell apoptosis, DNA error repair, and gene activity control. SFARI Gene notes that ZMYM2 mutations cause:

“a multisystem syndrome characterized by congenital anomalies of the kidney and urinary tract (CAKUT), cardiac defects, dysmorphic facial features, and/or neurological features.”

Join us in Part 3 as we discuss the need for improved research – and Katie provides updates on how she’s doing today!

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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