The voice of Clair Mills
By Chelsea Castonguay
United States Klinefelter diagnosis:
After welcoming a healthy daughter, Clair and her husband Dan were thrilled to add another child to their blended family. The new pregnancy was going well, and Clair felt great. While visiting the United States from her home in England, it was time for her 12-week scan. She was asked if she’d like noninvasive prenatal testing (NIPT), to which she said yes. Since everything had gone according to plan with their daughter, they weren’t expecting to find anything. She had no idea she was about to experience a United States Klinefelter diagnosis.
When she registered for the test, she read through the list of what the baby would be screened for and recalled coming across something called Klinefelter syndrome. She thought, “you’d be so lucky if they had Klinefelter syndrome because it seemed like it was the least of all evils.” from the testing list. After she gave her blood sample, she didn’t think anything further.
Shocking news about a United States Klinefelter diagnosis:
While at a routine OB appointment before she was set to fly back home to the UK, Clair asked for the results of the NIPT. Her OB left to check the results, but as the time passed and he didn’t return, Clair recalled thinking, “all right, this is a little bit strange, and something must be wrong.” Eventually, he returned.
He had shocking news, which he delivered as he handed her a box of Kleenex. He said, “Clair, your baby is 87% likely to have what they call XXY, also known as Klinefelter syndrome.” Clair realized Klinefelter syndrome was something that occurred only in boys. She felt a “little bit emotional” because they hadn’t wanted to find out the sex of their new baby. Clair absorbed this information, looked at him, and replied, “No offense, but if you told me there was an 87% chance I had cancer, I’d want a second opinion.”
A second opinion:
Having anticipated she would want a second opinion, the OB had already called Ohio State’s Nationwide Children’s Hospital to schedule an amniocentesis to confirm the United States Klinefelter diagnosis. Before leaving the office, the OB offered a little more information. He said, “There’s a high chance he has it, Clair. It’s kind of a spectrum, like autism. You can have no symptoms, or you can have a medium amount. It’s kind of a bell curve about where he could end up. There’s no telling. Your child could be fully functional or need help throughout his life.” He added another blow, “The biggest thing is your son will likely be sterile.”
She replied, “So my baby won’t be able to have babies?” The OB said they couldn’t know for sure yet.
Confirming the diagnosis:
After sharing the news with her husband, the couple was determined to proceed with the pregnancy. For Dan, termination wasn’t even a thought. Clair said, “we have three healthy babies. If our child needs 24/7 care or a live-in nurse, we’ll do it and get through it. However, it will be very hard and take a major toll on me. We can do it as long as we can do it together. I can’t do it by myself.” She worried about how their lives would change and, more so, the effect a significantly disabled child would have on their other children. She found herself picturing the worst-case scenarios. Dan reassured her they were a team, and together they’d get through whatever lay ahead for their family.
Three weeks later, the amniocentesis confirmed the results of the NIPT: their baby had Klinefelter syndrome. By that point, Clair had reconciled that their son more than likely had it, and the couple had a plan moving forward. They hoped and prayed for the best but would accept even the worst.
After the results were delivered, Clair met with a genetic counselor at Ohio State, who presented information about the diagnosis in a way that made it more manageable to absorb. The counselor gave her information on the eXtraordinarY Babies Study in Colorado and the concurrent TESTO STUDY (testosterone study).
Clair wanted her son enrolled in those studies and said, “When we found out, and we knew that we had him, I promised to advocate for my son until he could do it for himself. I’d do everything in my power to give him the best…in hopes of achieving everything possible as far as his diagnosis was concerned.”
During her appointment, the genetic counselor showed Clair the abortion rates for boys diagnosed with Klinefelter syndrome around the world. While an exact number isn’t known at this time, it’s estimated up to 70% of Klinefelter pregnancies are terminated. That percentage “broke her heart more than anything” she’d learned since receiving the diagnosis.
Clair added, “It’s still hard for me to swallow that number, especially when I look at my son and see how beautiful and perfect he is. I can’t imagine not having him complete our family, and it breaks my heart for all families who aren’t getting the correct information or aren’t getting it presented in a way that gives them a choice. Everybody deserves to have a choice to make.”
Accepting the diagnosis:
Clair immediately called and emailed Colorado upon leaving the appointment, wanting to waste no time getting her son enrolled in the program. They called her back, and Bo was accepted into the trial even though he wasn’t born yet.
They shared the news with their parents. Immediately, Clair and Dan’s parents were there to offer their unconditional support and love to the family. When Clair returned from her initial doctor’s appointment distressed as her husband was in England working, her father reminded her they were her “parents from day one, and whatever you need, we will help. We will help you, Clair.” They decided to wait until she was further along in the pregnancy to share the news with other family members and friends. They were still trying to process the information themselves and didn’t want opinions on the diagnosis.
Sharing the news:
However, it wasn’t long before some of her closest friends picked up on something wrong. They noticed she was quiet and withdrawn, which was not at all like her regular, bubbly self. She confided in a couple of close friends and felt it helpful to discuss the diagnosis. However, she didn’t want to become consumed in discussing Bo’s diagnosis and said, “It’s not going to define who he is or who we are as a family going forward. It’s just another characteristic, like eye color.”
Although the family had a lot going on, such as raising their three children and remodeling their new home, Clair still felt nervous throughout the pregnancy. However, she continued to push forward. Clair kept running and maintained a healthy diet. She spent time with her children, family, and friends. She said, “You keep living your life. It will not be the worst thing ever happening to us. Life is hard, and Everyone has their shit. If this is part of ours, that’s ok. There’s so much out there, and Bo can have all of it. Anything he wants, we will support, and we’ll do whatever we can.”
Throughout her pregnancy, Clair worked to process her feelings about the diagnosis. She wondered if she did anything wrong to cause Bo to have Klinefelter syndrome. She felt nothing in her life had ever come easy, except for getting and staying pregnant. Clair had done “everything right.” She drank orange juice daily, took prenatal vitamins before pregnancy, continued running, and stayed fit. She said, “You want someone to blame. You need someone or something to blame. I asked the doctors, “did this come from me?” My husband? Are we carriers?
Everything is going to be okay:
The doctors reassured her it wasn’t anything she did wrong, and Klinefelter syndrome wasn’t something she or her husband would carry or pass on. Clair sought help from a therapist, who was “good at making her talk about the hard things.” The therapist reassured Clair “everything was going to be fine,” even when Clair had moments of doubt.
When those moments of fear or doubt overtook her in the quiet of the night, Clair turned to research. She’d been annoyed when she shared the diagnosis with healthcare providers in the UK, as they questioned why she had the NIPT done. She was frequently the expert in the room regarding Klinefelter syndrome, and there were almost no resources for children with the diagnosis. She called multiple hospitals looking for an expert to talk with, only to be told she should call back when Bo was 12 or 13 years old.
Bo was born in the UK. He “was the most beautiful little thing they’d ever seen.” Clair’s contractions started in the early morning, and they headed to the hospital. After Clair’s water broke, she had one thirty-minute-long contraction before Bo was born by natural, spontaneous delivery. He came out with the umbilical cord wrapped around his neck and was blue from lack of oxygen.
While she was shocked by the pain of the delivery, Clair’s focus remained on her son. She wanted to know why he wasn’t crying and if he was ok. However, he was healthy and weighed 7 lbs, 12 oz. During her recovery, the hospital sent someone up to discuss the Unites States Klinefelter diagnosis with her, and Clair ended up educating the professional on Klinefelter syndrome. After twenty-four hours, she was cleared to take her new baby home.
Living With XXY:
When home, Bo took to breastfeeding immediately, and the family got to know their new addition. Now a healthy, robust two-year-old, they love watching how he fits into their family. Clair said he’s “a total bruiser. He plays with cars, trucks, and balls. He throws things, is funny, and has a great little personality. Bo’s super chill until he gets mad at a sibling and becomes feisty.”
Thus far, Bo seems to be on the lower end of the spectrum regarding his diagnosis. His muscle tone and speech development are great, and he is meeting or exceeding all expectations. He continues participating in the eXtraordinarY Babies Study, where no concerns have been noted. He also participated in the testosterone study and received early testosterone therapy injections.
Clair remarked, “You keep looking for verification that he’s where he should be in development and try not to be a helicopter parent because of his diagnosis. That’s where my double-edged sword is with knowing about the Klinefelter syndrome. Part of me wishes I didn’t know because ignorance is bliss. But if we didn’t know until he was older, I wouldn’t have been able to get him into the testosterone study or eXtraordinarY Babies, we wouldn’t know Ryan, and we wouldn’t know what to look for. We wouldn’t know why and what kind of help we should be getting. I’m so glad we do know. We can steer him in the correct direction.”
Clair added that Bo is smart and funny. He loves the book Brown Bear, Brown Bear, What Do You See? He knows all the animals and all the sounds. He loves airplanes, diggers, and things like that. She said, “He’s always out running around with his siblings and doesn’t care that he’s younger. He doesn’t let anything stop him. There’s no difference between him and the other kids. Bo completed our family. Your heart grows in ways you never know with every child you have. Most days, I don’t remember him having Klinefelter syndrome. I forget.”
Why she shared their story:
When asked why she chose to share their family’s story of a United States Klinefelter diagnosis, Clair said, “Everyone needs help sometimes. When I needed help, I had an amazing support system, starting with my husband, family, and friends. We also had a great genetic counselor who presented information in a way that gave us a real choice.” She wants to do anything she can to help correct the misinformation, so many families are given and help change the stigma surrounding the diagnosis, so people will realize it’s not a death sentence.
She added, “You aren’t bringing a child home from the hospital that isn’t going to live. You can still have the family you dreamed of. It might look a little different than you thought, or maybe it’ll be exactly like you pictured it. We take it one day at a time. We make modifications if needed and deal with issues as they present themselves. Maybe we need to change our perspective slightly and change other people’s perspectives. You don’t have to do everything alone; it’s about community and finding acceptance.” It’s also about forgiving yourself and finding peace in giving your child the best life possible.
Clair encouraged people to “do what’s right for them when it comes to a United States Klinefelter diagnosis. It’s not a death sentence. Yes, you have Klinefelter syndrome for life, but you can still thrive and have a beautiful life with it. I’m hoping with Bo, and this makes him stronger. This is something he can live with and overcome. Maybe other things in his life won’t be such a big deal. When I see people choose to terminate their pregnancies, I think you have to do what’s right for you and your family. Those are your choices; at the end of the day, we all have to live with our choices. You do the best you can, and that’s all any of us can do.”