5 Years (Kindergarten) – XYY
I was worried when Jeremiah was old enough to go to school. He had been in PT, OT, and ST for 2 years by that point, but I just knew there was something else undiagnosed. The doctor told me to talk to the therapists or Shriner’s since they were the experts. Shriner’s said his Isolated Hemihypertrophy could cause a lot of problems. Still, his was a mild case, so we should be grateful he was as functional as he was. The therapists told me if we did more at home, he would improve. This wasn’t the beginning of the cycle of feeling like everything wrong with Jeremiah was my fault, but it was when that thought really took root to become years of self-loathing and depression eventually.
He started school and was immediately behind his peers. They decided it was because he was the first child. Then they said it was because he was sick often and missed school. Around this time, I got pregnant with my 3rd child (a girl finally—yay!), and I was so sick with hyperemesis I could hardly function. I vomited so much I was in the hospital, needing fluid often, and I was put on bed rest at 32 weeks. I stopped asking about him as much, and his school never filled the gap to keep the communication open.
Early School Years – XYY
By 1st grade, Jeremiah was not only behind his peers academically but socially as well. I was certain he was on the autism spectrum, but no one would listen. His 1st-grade teacher was horrible. There was never a single day she had anything good to say about Jeremiah, and most days, she had something negative to say. It was during these years Jeremiah started getting bullied, and it was always blamed on him. We put him in taekwondo just to be able to defend himself. I asked over and over to have some type of intervention at school, but I didn’t even know what was available or who to talk to. And nothing was offered willingly.
I started calling around to child psychologists to ask who took his insurance and test him for autism. I called anyone and everyone I could think of, and finally, one psychologist listened to me. She had no openings for 6 months, but she made room to get Jeremiah in. He was diagnosed at the end of 1st grade with ASD level 2 and an unspecified learning disorder.
My 2nd-grade teacher still worked at the school Jeremiah went to. She pulled me to the side one day and told me how to do a child find on my own (this is the process to get a child tested for extra resources at school). She told me that, in her opinion, the school was failing Jeremiah, and I needed to step up myself. She also told me my rights and how to utilize them.
I made a special request that Jeremiah be put into Mrs. S’s class (shortened to keep her identity unknown) for 2nd grade. He was tested and put into special education groups for reading, writing, and math in her class. She’d also been a teacher for over 30 years and understood how to work with a child’s abilities in unique ways to help them become successful. For the first time in Jeremiah’s academic career, he felt appreciated for who he was—the funny, quirky, and genius kid. He started getting pragmatic therapy with speech and was progressing socially. He was making a lot of progress.
Third grade was still a struggle socially and academically; he was no longer making progress. He struggled even to hold a pencil for a long time because his fine motor skills were delayed. By this time in Jeremiah’s life, I didn’t trust anybody to make choices with his best interests in mind, and I took control of all of it. I researched everything for myself. Because of this, I knew of some resources he was entitled to and fought like crazy to get them. For example, by the end of 3rd grade, he had an iPad to help him in school.
In 4th grade, I knew that his IEP (Individual Education Plan) wasn’t acceptable and started fighting to get it up to par. I kept telling the school over and over that what they were doing wasn’t working. While they seemed to care, they just kept using the same old techniques that didn’t work. This was also the year Jeremiah’s brother started kindergarten. Shortly after school started, one of the school counselors told me, in a surprised manner, that our 2nd son was doing so well. “They” had been worried he wouldn’t. I wanted to scream, “AUTISM ISN’T CONTAGIOUS!!!” That comment just added to my self-loathing. The school staff thought Jeremiah’s problems were because of my parenting. My 2nd son’s success in school finally made me feel like they weren’t my fault. My second son was, and is, successful academically, and he is the child the teacher purposely puts at the same table as children with behavioral problems. He is gentle and kind and understands differences better than most adults. (Currently, my daughter is in kindergarten and is the same way.)
At this time, Jeremiah was no longer making any progress in PT or OT. He was also discharged from ST because he had met all of his goals. He was still frequently sick, and I felt like I could not keep my head above water doing all these things to “help him” that weren’t even working.
By 5th grade, I was dying inside trying to get help for my son. I knew there was something the doctors had missed. I had started getting him into alternative treatment plans. We did vision therapy to try to help with his reading. We started cranial sacral therapy (this was actually awesome, but it didn’t “cure” anything). He started taking all kinds of vitamins and supplements to help his brain health. A more holistic doctor suggested these. We even tried detox baths.
Then, we started chiropractic care. This was one of the best choices we made. I don’t know if this is or will apply to most X Y variant individuals, but it was a game-changer for Jeremiah. I think he was in constant pain in his back, hips, and knees mostly due to the Isolated Hemihypertrophy since, at this point, his leg length discrepancy was at 1 1/2 inches. Even with a shoe lift, it caused issues with his gait (walking). The addition of his weak muscle tone and core, I also think, caused alignment problems. So, chiropractic is something he does weekly even now.
Despite these minor bits of help, nothing worked that really cured him or gave me answers as to why he had so many issues. I felt like I didn’t know enough to help him. I told people I felt like I should just go to medical school to know how to help my son myself. Thankfully, though, some answers came but in a difficult way.
After a few years of being seizure-free, Jeremiah had his first new seizure in October of 2017. We were referred to a neurologist, and we had our appointment in March of 2018. She wanted to do 2 things. She wanted to do an MRI. Then, because of his significant academic delays added to the fact he has ASD, she wanted to do a chromosomal microarray. She thought he had fragile X syndrome. She said she thought this because of his facial structure. She was shocked that at no time had any other doctor requested genetic testing. This was an unfortunate mistake by his doctors. When Jeremiah was 11 months old, he saw a geneticist at Shriners who diagnosed the Isolated Hemihypertrophy. Only, she never ran any tests. She diagnosed him with a physical exam only.
The Diagnosis – XYY
In April of 2018, I got a call from Lineagan, the lab that ran the DNA, and I was told they had found something with Jeremiah’s chromosomal microarray. He had an extra X sex chromosome with absolute certainty, and it wasn’t mosaic (meaning it was in every cell, not just some). She told me he had what was called Klinefelter’s Syndrome (also known as KS). First, I think my heart dropped. Then the fear of “what does that mean?” set in. Then, I think I had a feeling of vindication. I can’t describe to a parent who hasn’t fought for years and felt like a failure what it feels like to know that you weren’t crazy all along. I had known for so long there was something wrong with my son, and none of his doctors ever believed me or knew enough to find it. And I don’t have to tell a parent who has gone through the same thing that feels like because you already know.
The lady I spoke with and who gave me the results wasn’t a genetic counselor and couldn’t tell me what Klinefelter syndrome meant for my son. That was maybe the 2nd worst thing that could have happened at that point (we will get to the worst thing later in the story). The person who calls to give a diagnosis should be someone who can talk to you at length and give you knowledgeable information and answer any questions. So without knowing anything but a name I couldn’t spell, I went to Google. My heart had dropped earlier, but after googling 47 XXY, it had sunk to my feet. The first thing I saw was, “Are XXY male or female?” Then, the word “infertile” kept showing up. And directly from the NIH rare diseases website, I read, “People with 47, XXY are at an increased risk of developing diabetes, metabolic syndrome, osteoporosis, cardiovascular diseases, autoimmune disorders, and certain mental health problems. Regular screening for these health problems is suggested.”
I sobbed and sobbed. These are all scary health problems. And while my son was only 11, the thought of him not having children was devastating. I called my husband and told him what they found. We had so many questions and fears. I won’t beat around the bush, but part of it had to do with the terms we read about this syndrome, such as “intersex.” While we had known for years, there was something undiscovered about our son, and we knew he was 100% a boy and had never questioned otherwise. We were worried about this diagnosis to see doctors who would want to talk to our 11-year-old about gender identity. In this political climate, especially, we worried doctors could use his diagnosis for a political agenda.