XYY, Jacob's syndrome

XYY A Missed Diagnosis

XYY A Missed Diagnosis

When asked the question, “Tell us about your son’s journey to a XYY diagnosis,” it almost seems like too much to put into words. Too much time, too many doctors, too many tests, too many feelings of failure as a mom … just too much. However, I think it is a journey that a lot of X Y variant moms could have been through so I feel like I owe it to my son, as well as to other moms, to write it. 

I tell him all the time he will change the world, and I think his story could make an impact. It isn’t a short story, which is why I haven’t told it much. But I will try to tell it all now. The good, the bad, and the ugly.  A Mothers Klinefelter Story

XYY, Jacob's syndrome
Jeremiah at the doctors, XYY

The Pregnancy – XYY

My pregnancy with Jeremiah was pretty uneventful, pregnancy wise. I said it like that because I got pregnant when I was 16. As you can imagine, a teen pregnancy is never an uneventful process, but as far as the pregnancy, it was really good. 

The Birth – XYY

This part of the story I feel needs a disclaimer. The story itself could be a little traumatizing for pregnant moms looking to see what to expect. I don’t know that my story is similar to other X Y variant moms, but I was told that sometimes XXY – XYY boys can get stuck during birth. This part of my story is just to show one thing: trust your instincts as a mom. Doctors are wonderful, but your instincts as a mother should never be overlooked.

I went into labor when I was 40+1 weeks pregnant. It was a Sunday afternoon around 12:30 p.m. I remember so clearly because I had just gotten home from church. My first noticeable contraction hit hard. An hour or so later, my mom took me to the hospital, and while the nurse was nice, she told me it was false labor and sent me home. I continued to have frequent, but irregular, contractions the rest of the day and into the night. I was in intense pain and kept saying it didn’t feel right, and after having 2 additional children, I stand by that statement. I still wasn’t having contractions closer than 5 minutes apart at regular intervals, but I woke up my mom to take me to the hospital. We arrived around 3 a.m. Monday morning. When they examined me, I was 8 1/2 centimeters dilated. Every time I could manage to fall asleep between contractions, they would wake me up and make me roll back onto my side. Unbeknownst to me at the time, it was because each time I wasn’t fully on my side they would lose Jeremiah’s heartbeat.

Around 10 a.m., they told me they kept losing Jeremiah’s heartbeat even with an internal monitor, so I needed to push. I pushed and I pushed and I pushed and I couldn’t get him down. I told them it felt wrong, and the nurse told me that’s what labor was and that I shouldn’t have had sex if I wasn’t prepared for labor. So I pushed and pushed until I had to be put on oxygen and they lost Jeremiah’s heartbeat for good. My doctor ran in wearing his shirt and tie and told the on-call doctor to leave the room. He then used the vacuum twice, unsuccessfully, and then he used the forceps to finally deliver my beautiful 7 lbs. 10 oz. baby around 1 p.m. They still don’t know why they lost his heartbeat because he was born breathing and perfectly healthy. It was clear that he was stuck though.

Early Infancy – XYY

There was nothing remarkable about Jeremiah’s first few months. He was happy and healthy. He was perfect. It wasn’t until he was about 6 months old that we took him in for his first ear infection. This became a recurring problem. Then, at 9 months my sister noticed something odd. He had one leg longer than the other. We were referred to Shriners hospital, and at 11 months old, he was diagnosed with his first genetic anomaly: Isolated Hemihypertrophy. He has one side of his body that grows at a different rate than the other. 

Toddler Years – XYY

Around 2 years old, I was complaining more often to the doctor. Jeremiah seemed weaker than his peers, and they blamed it on his Isolated Hemihypertrophy. He wasn’t talking nearly as much as his peers. They blamed this on his recurring ear infections and referred us to an ENT. They said he had some mild hearing loss and gave him tubes, a tonsillectomy, and adenoidectomy. We found out he had an anaphylactic peanut allergy when we gave him peanut butter for the first time. This was the first of his many diagnosed allergies. Shortly after that, he was also diagnosed with asthma. All this was followed almost immediately by seizures.

He was sick so often, and I kept complaining about his overall muscle weakness, his lack of verbal communication, and his not playing like his peers. They blamed everything they could on the Isolated Hemihypertrophy. What didn’t fit there, they blamed on him being sick frequently. And if those both failed, they would blame it on the fact I was a teen mom. My teen parenting became an easy scapegoat for whatever the doctors couldn’t figure out. 

When Jeremiah was 3 ½, my husband and I welcomed our second child into our lives. It became obvious almost immediately the glaring differences between our newest and Jeremiah. I changed pediatricians, and at that time Jeremiah started physical therapy (PT) for his walking troubles and his muscle weakness. Within weeks of PT, the pediatric therapy office also had him in Speech Therapy (ST). This was followed very shortly by occupational therapy (OT). He was in PT, OT, and ST every week for a total of 4 appointments weekly. He made great progress at first, and I was hopeful that finally this was what he needed. 

XYY, Jacob's syndrome
XYY, Jacob's syndrome

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 me feeling like everything wrong with Jeremiah was my fault, but it was when that thought really took root to eventually become years of self-loathing and depression. 

He started school and was immediately behind his peers. They decided it was because he was a 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 myself to ask who took his insurance and would 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 (that is shortened to keep her identity unknown) for 2nd grade. In her class, he was tested and put into special education groups for reading, writing, and math. 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 like he was appreciated for who he was—the funny, quirky, and extremely smart kid he is. 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 to even hold a pencil for a long period of time because his fine motor skills were so 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 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 was not able to 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. These were suggested by a more holistic doctor. 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 be applicable to most X Y variant individuals, but for Jeremiah it was a game changer. 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 helps, nothing was working 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 so I would 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 who ran the DNA, and I was told they had found something with Jeremiah’s chromosomal microarray. With absolute certainty, he had an extra X sex chromosome, 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 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 what 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. I think 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). I think 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 in relation to this syndrome, such as “intersex.” While we had known for years there was something undiscovered about our son, we knew he was 100% a boy and had never questioned otherwise. We were worried with this diagnosis that we would see doctors who would want to talk to our 11 year old about gender identity. In this political climate, especially, we worried doctors could try to use his diagnosis for a political agenda. 

XYY, Jacob's syndrome

By the time we got a call a few days later from the genetic counselor, I had hardly slept since I had gotten the diagnosis. Every waking minute since that point, I had spent researching. So, I already knew 90% of what she told me. She did have 2 great suggestions for us though: look on Facebook for support groups and to look into research studies. A light at the end of this long tunnel was found in two groups: the AXYS Facebook group and the Klinefelter Syndrome/47 XXY / X and Y variations support group. For the first time since the diagnosis I felt like there was a chance of a normal, successful future.

After the Diagnosis – XYY

We finally had a diagnosis we felt actually explained our son’s various struggles and found some great resources on various ways to work through them and overcome them. Once again, all of his doctors were clueless. None of them had ever had a patient with KS. One of worst things for a parent is for a doctor to Google your child’s syndrome in front of you. This has happened to us multiple times now. In case any doctors are reading this, I suggest you don’t do that. His pediatrician was great and was willing to read whatever I gave him. He was also willing to run all the tests recommended and refer him to all the specialists he needed. The testing was extensive but easily done, overall, with blood tests. Referrals take a long time, however, so yet again that left me taking things into my own hands. I started looking into all the research studies available and emailed all that were applicable. 

When we finally got an appointment with an endocrinologist, he recommended testosterone. This was expected, but I still had 1,000 questions to make sure it was the best fit. The endo was so kind and patient, and in the end, we all agreed testosterone therapy was the best fit for Jeremiah. This came with a little bit of an internal struggle because, with the counsel of his doctor and our pastor, we had decided not to fully disclose Jeremiah’s diagnosis to him. It was determined that Jeremiah wasn’t mature enough to fully understand all of the aspects of KS. What 11 year old is ready to hear and fully comprehend being infertile? So, I felt a level of guilt making these life changing choices on his behalf. 

We started testosterone in late June/early July. Boy was that was a process. The endo, who had many, many years of experience, told me all mothers want to stop testosterone treatment after it is started. I thought, well not me. I am an educated mom who has read multiple stories about testosterone therapy on all of the various forums I could find (cue the snort now). I wanted to stop the testosterone treatment immediately! My gentle, kind, respectful son was back talking and angry, and he had started to physically interact with his siblings. We aren’t talking anything major, but it was still unlike him. My husband reminded me that we agreed to wait it out. So I begrudgingly did. Then, we started seeing some awesome things. Jeremiah looked more muscular through the shoulders. He had never had muscle tone like that before. He lost some pudge through his middle. He was becoming more mature and responsible. He also noticed “personal” changes physically. This all happened within 2 months or so of treatment. It was quick, and he loved being on the testosterone.

I got a call sometime in the end of July from the NIH in Washington, D.C., for a research study. I had kind of forgotten about all the emails I sent. After talking to Jeremiah (who is a history buff), we decided that, heck yes, we were going to D.C. We live about as far away from D.C. as you can be in the mainland U.S. So, this was a dream come true for Jeremiah. Our daughter wasn’t going to be able to come with us, but the study would pay for Jeremiah, 1 full-blooded brother, my husband, and myself to come and participate in a study on Klinefelter’s Syndrome.

We embarked on the 2,500-mile, cross-country trip on Halloween. We got into Washington, D.C., and on November 1st we started an intensely busy day of testing with a wonderful team of medical professionals. Over 2 days, we spent probably 18 hours being questioned, poked, prodded, and tested. As insane and exhausting as it was, it was an amazing experience. Plus, we got to explore one of the most amazing cities in our country. 

We got back home, and I had this feeling of finally being at ease. We had the diagnosis I felt was finally the resolution to all the years of searching. We had a treatment that was working and had seen the best doctors our country had to offer. 

Are any of you waiting for the “but”? Well, let me tell you, it’s a doozy.

But, I got a call November 16th from the NIH. Jeremiah had just had bilateral knee surgery, so I wasn’t even focused on the NIH anymore. I was a little surprised to get the phone call honestly. The head of the entire study through NIH (like a wow kind of guy with degrees on top of his degrees) called and had some news. The NIH did a karyotype of Jeremiah’s DNA, and it didn’t find that he was 47, XXY. They had a karyotype of 47, XYY. They had run the tests 3 times and needed me to find a doctor here to take blood and run the test again. Someone was wrong, again. I called every single doctor he had seen in the last year and was practically in hysterics to see who could run the karyotype again. See, the NIH doesn’t make mistakes like this, and the logical conclusion was that Lineagen (the lab who had run his test here) had misdiagnosed him, which was the worst thing they could have done. Of course, I had to leave messages with the nurses instead of being able to talk to any of his doctors. If you haven’t gotten the idea yet, I loathe waiting on doctors. So, I called Lineagen myself (Google is both my best friend and worst enemy), and upon explaining what happened, they transferred me to one of the big wigs. Within a few hours I got a call back from her. She was a very kind and compassionate lady, and she told me that Jeremiah was in fact 47, XYY, and they had had an “input error.” She explained that instead of clicking 47, XYY the tech clicked 47, XXY, and it was as simple as that to send off the wrong diagnosis.

I would have thought the feeling of being punched in the gut with a diagnosis would have dissipated by then, but it hadn’t. I was yet again in the boat of having a diagnosis I knew nothing about with doctors who were clueless. Plus, I am told by every doctor our son has seen, from the entire research study staff at the NIH to his endocrinologist with over 30 years of experience, plus all of their colleagues with whom they spoke, that this kind of massive diagnosis  has never happened that they know of. Yay us … not.

XYY, Jacob's syndrome

47, XYY – Jacob’s Syndrome 

Jeremiah has now had this diagnosis for 2 months. We are told this is rarer than Klinefelter syndrome and much less researched. Let’s keep “rare” in perspective though. 1 in every 500 boys are born with 47, XXY. 1 in every 1000 are born with 47, XYY. 1 in every 1000 girls are born with 47, XXX. 1 in every 700 babies (boys and girls) are born with Down’s Syndrome or an extra copy of chromosome 21. While it is evident all of these examples are rarer than Down’s, it isn’t that there isn’t a large population of X Y variant individuals. It’s that there is a huge lack of knowledge within the medical field to properly diagnosis them. Oftentimes, they simply get diagnosed with the symptoms like ASD, ADHD/ADD, and learning problems.

The endocrinologist said 47, XYY is still so newly researched that there aren’t really any baselines nor are there any concrete treatment plans. There are a lot of broad studies done but not enough to give us a clear idea of his future. Our plan currently is to take each day as it comes and treat any symptoms that may arise.

Testosterone isn’t commonly used for XYY, especially in XYY adolescents, but since Jeremiah responded so well, we may be able to go back to it in the future. For now, we have stopped testosterone treatment to see if Jeremiah will successfully complete puberty. We are told around half of those diagnosed early complete puberty without issue, and then another half of those will continue life without any major problems with normal hormone levels. His doctor wants to make sure he is in the 50% without problems before we continue with testosterone. Jeremiah also started a medicine for ADD, which he was diagnosed with in Washington D.C., and it has been a great treatment for him so far. It isn’t a cure for his struggles in school, but has helped greatly with his focus and anxiety.

I was told 47, XXY and 47, XYY can present very similarly, and I feel like that is accurate for Jeremiah. For him, it has caused impulse control problems, ADD, asthma, mild and infrequent seizures, mild tics, processing delays (my opinion is this is why he struggles in school), ASD, and anxiety, which is more pronounced in public. He has widely-spaced eyes (Remember the neurologist thought something was wrong with his facial structure? She is good at her job.). He is slightly taller than his peers, he has low muscle tone, and he has more problems with extra fat than his siblings.

We do know that he has a high chance of fathering biological children, but when we finally explained to Jeremiah what he has, a crazy thing happened. He told me he doesn’t think he wants biological children. Without being told, he knew the chances of passing on a genetic mutation are high for him. While passing on XYY itself is not possible, or at least unheard of, anytime someone has a genetic mutation, or in this case extra genetic material, they are much more likely to pass on a genetic mutation to their offspring.

Other than some family and a few close friends, we still haven’t publicly disclosed his diagnosis. Before, it was because of the personal side effects of KS. Now, it is because it is a long story to tell how we got here. And I don’t think I am ready to take the time to explain what XYY is. 

Jeremiah is currently in the 6th grade and almost 12. We still don’t know what the future looks like medically for him (other than it will be busy with appointments), but this is what we do know. Jeremiah is the funniest, sweetest kid you will ever meet. The fact he is socially awkward doesn’t bother anyone who takes the time to get to know him. He might not do well in school, but he is extremely smart. He has a tenacious spirit that has come from fighting every day to function in our primarily neurotypical world.

We trust that God has a plan. Jeremiah has made everyone around him better. His siblings are the kindest children who embrace others’ differences. His father and I have learned to appreciate the small things and to remember what is important. And now he has a great group of doctors who might not be experts but are learning and will be able help other boys and men in the future through this knowledge. 

So for all of you moms, as well as dads, grandparents, or loved ones of newly diagnosed children of whatever age, it will be ok. I promise. The feelings you have will become less overwhelming as you become more knowledgeable. Your story is unique, but you are part of a group of people who knows what you are going through. Embrace your X Y variant children, and realize you are writing the medical books for the future. It might seem like an unfair task, but you and your children are up for it. Your family will be stronger because of it. 

– Signed a blessed (although often tired) XYY mom

A mother shares her story on YouTube

 

One thought on “XYY A Missed Diagnosis

  1. Thank you for sharing your story! We just received my son’s 47,XXY diagnosis a year ago, and it’s been quite a journey. Stay strong, mama. You know what your son needs. You’re doing an amazing job.

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