When I got the in utero diagnosis of my son’s XXY in 1995, I had feelings of despair, confusion, frustration, and sadness. My husband and I went to the public library in Manhattan to explore KS information, per the geneticist’s recommendation. We were traumatized by the photographs and misinformation.
Dr. Adler, my OB/GYN was very consoling and empathetic. He gave me Melissa Aylstock’s information and told me she was fighting for her son and other KS kids through KS & Associates, the organization she founded.
Melissa was sweet, kind, concerned and very responsive to my plea for help! Back then it was ‘long distance’ phone calls to California from NJ. We were on the phone for hours. Melissa sent me an overnight package with photographs of her son, whom she had self-diagnosed, along with photos of other KS guys. They looked NOTHING even close to the pictures we had seen at the library. In fact, they were handsome guys with no physical signs of anything unusual.
I had the good fortune of meeting Melissa and her son at the 1995 KS&A conference. A couple dozen people attended that event. I witnessed the growth of AXYS, (KS&A was renamed AXYS in 2014) when I attended the 2019 conference with nearly 400 participants: medical professionals, parents, and individuals with X and Y variations, who traveled from all over the US, South America and even Europe to attend. Attending the conference was not only nostalgic for me as I reflected back on 1995, but also a sign of hope that awareness, support and education are on the rise.
I raised my son alone, well, along with a few good nannies and sitters. My son is a smart, handsome, caring, kind, person with drive and passion. As my son struggles with KS related neurocognitive issues, I continue to look for answers while guiding him along the way to independence.
My involvement with AXYS is driven by not only my need to help others, but a moral obligation to do like Melissa did: sincerely give back to others, to give hope to parents not sure of the outcome, listen and empathize with families, provide references or referrals when needed and most of all, to help spread awareness, support and education about X and Y variations.
Due to speech and language delays my son started in special education preschool. When my son entered kindergarten, his teacher saw similarities between Kent and another boy who was diagnosed with XXXXY. We took her advice and got genetic testing for our son.
We learned back in 1994 that our son did not just have one extra X as we suspected but has an extra X and an extra Y; he has XXYY.
Our doctors suggested we not read the older literature that painted a horrid picture for our son but instead told us to contact KS&A and join the support group. As it turned out, Melissa Alystock lived less than a mile from us. Our kids attended the same schools.
Melissa Alystock started holding conferences to gather people with X and Y variations together. She sought and received grants from pharmaceutical companies to support these events. In addition, she gained the professional support and services of health care professionals who met with families at these events. It was life changing for many to meet with a doctor, genetic counselor or other professional that was knowledgeable about X and Y conditions.
Melissa and her husband needed help managing this fast growing organization so she asked me to join the board and then I served as a moderator for the listserv. I saw the challenges trying to meet the needs of grown men with X and Y variations as well as simultaneously meeting the needs of parents of younger children without overwhelming them. There is only so much many of us can process at once, so some families step back from support groups but then later rejoin either when they need assistance or when they are in a position to offer it.
I financially support AXYS (The XXYY Project) and encourage my family to do so also. This assures there is help, information and research for all when it is needed.
My favorite part of serving AXYS as your Executive Director is getting to know our community. In mid August I was in Michigan visiting my family and had the pleasure to meet 7 families in our community.
Jennifer, a Mom of a 2-year-old with XXXY and I were hosted by Elisha, a mom of a 2-year-old with Trisomy X. Elisha lives in the city where I grew up. Both Moms shared the wish that the support groups shared more triumphs and positive stories as well as answering questions when problems arose. With a toddler, you have so much ahead of you, so the hope the positive stories offer are greatly needed. So everyone reading this, please keep sharing positive photos and stories in our support groups.
That evening, I had dinner with Jaime and Jeff and their daughter. They are the parents of a teen with XXY, who would have come with his family but had a much more fun offer from his friends. Jaime has attended a few conferences, including our the 2019 AXYS Family Conference in Atlanta. She shared her thoughts on the conference, including the desire for more teen activities and more sibling activities.
The following evening I met with Kathy, who also attended the conference. Our conversation focused on her adult son with XXY, and the work it takes to get SSI. I shared the relevant videos from our YouTube Channel. Kathy gave me candy from Bay City’s most famous candy store St. Laurent Brothers, where Madonna stops to get candy when she is in the area.
On Friday, Wendy and her son John, a 30-year-old with XXY, drove 75 miles to meet me, and Dan and Sonya who have a son with XXY. Wendy offered to share brochures with doctors in Grand Rapids. Thank you Wendy!!
I met Nancy who has a 30-year-old son with XXYY and Brandy and her son 15-year-old XXY son at Ray’s Ice Cream. I used to go there as a child and I had a Boston Cooler, a drink only those from the Detroit area will know.
Kevin and Joy—thanks for reaching out and I hope we can connect the next time I get to Michigan.
Cami—I hope we can meet the next time I’m in Bay City.
When KS&A was formed in 1989 by an Ann Landers letter that Melissa Aylstock had written, the organization took off from there. Melissa was very welcoming to new families, and to men newly diagnosed with KS. She ran the organization practically by herself. While her husband assisted, she was the webmaster and handled listserv duties when that started in 1997.
I first met Melissa and her husband Roger at my first national conference in Bellevue, Washington in July 1996. Though I was a much different person back then, I finally met other men like me and also got a taste of how to start and run a support group. I brought that information back with me to Boston — where I had recently moved — and Melissa assisted me with getting the Boston area/New England based support group going. Melissa stayed with me in my Boston area apartment when she and I attended a genetics conference in the Boston area, where I gave a presentation. She also attended the second or third support group held in the Boston area.
So I got involved immediately just after returning from the 1996 national conference and wore a lot of hats and did a lot of work for her and the organization. I presented two sessions at the 1997 conference, as well as at the 1998 conference. I co-chaired the national conference in Baltimore in 1999 and planned a good conference with added bonuses as we were celebrating the 10th anniversary of the organization.
I was recruited back to KS&A as a pediatric lead (don’t remember the exact title) and I gave my all in that role for about 3 or 4 years. I handled other roles during that time, but kept true to myself with my personal KS website and supported anyone who needed my assistance throughout the world.
Between the early part of 1997 and the end of 1999, I was putting in about 40 hours per week of volunteer work, while working 40 hours of my full-time job. Because of my volunteer work, I considered getting my master’s in genetic counseling and even started a program in late 1997 taking classes to see if it was a good option for my future.
The MassGeneral Hospital Klinefelter Syndrome Clinic is the most recent addition to the ACRC (AXYS Clinic and Research Consortium). They offer care throughout the lifespan, from caring for those with a prenatal KS diagnosis to adults of all ages. While the clinic is named for KS, they specialize in all male X and Y chromosome variations, including 47,XYY, 48,XXYY, and 48,XXXY. Individuals with 47,XXX can also receive care at MGH through a separate team within the Medical Genetics department.
This clinic was created in part due to the efforts of the NEXXYS Support Group. Several members of this group saw the need for a clinic in New England and worked with MassGeneral Hospital to establish the clinic.“Our multidisciplinary clinic was inspired by patient feedback, and it is our hope that those with Klinefelter syndrome and other sex chromosome variations can consider our clinic a “medical home,” says Emma Snyder, the Clinic Coordinator. “I am the first point of contact for new patients and an ongoing resource to patients with further questions about our services.”
The clinic offers a multidisciplinary team of medical, surgical, and neuropsychological specialists, and can refer to many other subspecialties at MassGeneral as needed. “We want to grow the ease of transition from pediatric to adult care,” says Emma. “As you reach your 20s, you often lose access to services in the education system but may continue to need support, including mental healthcare.” This clinic was designed to meet these needs.
New to the team is genetic counselor, Ashley Wong, MS. In her role in the KS clinic, Ashley focuses on the psychosocial counseling aspect of genetic counseling. She is a resource for patients and their families as they navigate various aspects of a KS diagnosis, particularly the neurodevelopmental components.
To learn more about the clinic or make an appointment, call Emma at 617-726-5521 or send her an email at firstname.lastname@example.org. For MGH Trisomy X care, call Medical Genetics at 617-726-1561.