A Mother’s Love and the Dogged Determination to Advance ZMYM2-Related Disorder Research: Sharon and Katie’s Story (Pt. 3)

Read Parts 1 and 2 of Katie’s story, where we discuss the diagnostic journey, precocious puberty, and Katie’s ZMYM2-related disorder diagnosis.

Potential ZMYM2 Symptoms and the Need for Research

The geneticist mentioned that symptoms include cardiac and renal abnormalities, craniofacial symptoms, small hands and feet, and dysplastic or hypoplastic nails. Katie’s ADHD, autism, and even teratoma are all believed to be related to her genetic mutation. This mutation has also been linked to schizophrenia, increased cancer risk, and behavioral abnormalities. Sharon advocates for increased research to better understand ZMYM2-related disorder and its long-term impacts. She says:

“I don’t know what else there is to do besides push for research. In the report that I have, it says that 50% of affected individuals have CAKUT, heart defects, and craniofacial abnormalities. Katie is the only one, from everyone I’ve spoken to, without these issues. Why is that? From what we know so far, we know this isn’t a regressive disorder. But what is the lifespan? What other neurological issues might arise? We’re treating what we see but we lack a comprehensive understanding of what this means as a whole. It’s very frustrating. Everyone is asking me what to do and doctors don’t even know what to do.”

Katie does have frequent atypical migraines, as well as burning sensations in the hands and mouth. Doctors are unsure if it is epilepsy or related to her ZMYM2-related disorder. However, Katie recently had a clear EEG in December 2022, which means that her medication has been effective in helping to control her seizures.

Sharon would love to speak with any researchers who are interested in studying or learning about ZMYM2-related disorder. She and other families are willing to submit blood samples, genetic information, or other information. Additionally, she is willing to travel nationally or internationally for any studies or research.

If you are interested in speaking with Sharon or learning more about ZMYM2-related disorder, please contact [email protected] and she will be happy to facilitate that connection.

Katie Today

Currently, Katie is in 9th grade at a local Catholic school. Sharon cannot speak more highly of the school and its teachers, sharing:

“They are so respectful of different backgrounds and everyone is helping Katie to be the best person that she can be. Katie loves writing and one of her stims is telling stories. She’s so talented at that. One teacher teaches a writing lab on her own time.”

Outside of school, Katie loves swinging outside near the lake (Sharon says: “if she gets married, God help her husband because she’s going to need a swing”) and building her skills in special effects (SFX) makeup. On our call, Katie shared a photo of SFX makeup she had done on her arm: a large, gaping, bloody wound. I can attest that she is not only extremely skilled, but has a future in the SFX makeup industry!

Health Updates

Currently, Katie is dealing with abnormally high estrogen levels. Doctors are unable to determine whether this is the result of the pituitary gland itself, the pituitary tumor, or something else happening in Katie’s body. Elevated estrogen levels can cause severe PMS, hot flashes (which trigger epilepsy), and increased seizures. The family cannot get to the endocrinologist until March, which is worrisome. Sharon says:

“We can’t use birth control to regulate the estrogen levels because we need to manage the epilepsy first. But we can’t stabilize the seizures until the estrogen issue is addressed. We’re at a loss and we don’t know if it ties into the precocious puberty, the genetics, or another issue altogether.”

However, Katie seems to be doing fairly well outside of this.

“Not Many People Say They Like Having Autism”

In 2021, Katie was diagnosed with moderate-to-severe autism. Sharon credits their early socializing for helping Katie to be so social and friendly today, sharing:

“I couldn’t have a child that was resistant to change because change is a part of life. Growing up, I would count down to get her ready to leave the house. I never yelled when she got upset because that doesn’t change anything. When she has a meltdown, I encourage her to take deep breaths, but sometimes you just need to let it happen.

We went to Coldplay once and the opener was doing a guitar riff that was really off and unpleasant. At the time, I didn’t know that Coldplay offers headphones for sensory issues. Katie started crying and getting anxious. But after refocusing, we loved every minute of it. I’ve always told my kids that you have a right to your feelings and how you feel. How you express and handle it is the issue.”

To Katie, learning about her autism diagnosis actually made her quite happy and helped her to understand herself better. She shares:

“I felt relieved that we finally knew what was causing my behaviors, how I act, and how I engage with people. Some moments, I don’t like having autism because I don’t like the meltdowns that happen. But for the most part, I actually like having autism. I like educating people about what autism is. Sometimes people don’t want to listen or learn; they just want to think what they think. I’ve really liked teaching the people who are willing to listen, though.”

To Sharon, this outlook and perspective is amazing. She believes that Katie’s autism makes her special and helps her to see things differently. Sharon shares:

“We saw Wonder, a movie about Treacher-Collins syndrome, and Katie didn’t realize that he had any craniofacial differences. One of her friends has severe autism and it wasn’t until last year that she realized he was autistic. Katie doesn’t see people differently. She loves to help people. She’s so generous and loving and is always sticking up for people. Her empathy is off the charts. I’d like to think that we raised her that way, but some of it is her autism. It’s an example of positive neurodivergency. Do I wish she didn’t have autism? Nope, I love her the way that she is. The best thing I can do is support her and do the best I can for her.”

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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