XXYY Project
c/o AXYS
PO Box 872
Pine, CO 80470-0872
Fall 2015
A newsletter for donors, families and friends of the XXYY Project
XXYY Project’s Move to AXYS: How it Works
General Topic
Page #
Organization Info
1-2
3
Clinics
4
Outreach
5
Events
6
Other XXYY News
7
Fundraising
8
Communications
9
This newsletter is packed
with content because we
haven’t produced a
newsletter in some time.
Make sure you read all of
it and SAVE it so that
you can reach the clinics
and have all of the
material handy.
association for x & y chromosome variations. After operating since 2003 under the
umbrella of the Colorado Nonprofit Development Center, the former advisory board
for the XXYY Project decided that it was time to re-join the x & y chromosome
variation community to work on common goals. AXYS, as you may know, is
formerly known as KS&A. For many years, they have been serving people with
Klinefelter Syndrome (XXY), Jacob Syndrome (more commonly known as XYY) and
Trisomy X.
In spite of our move under the AXYS umbrella, the XXYY Project is still operating
rather independently. We no longer have, nor do we need, an advisory board.
Instead, we have a representative, Larry Rakowski, who serves on the AXYS board
of directors. Jim Moore, Executive Director of AXYS, is the step-dad of an adult
with XXYY as well. Furthermore, Renée Beauregard has returned to continue to
support and communicate with families and work with researchers along with Lynda
Hall who helps in many different capacities such as keeping the records of our
families up to date and moderating the listserv. Volunteers still handle incoming
inquiries such as those from doctors, handled by Janeen Daftary and those from
educators handled by Val Kellogg.
Our previous advisory board members have all moved on to do other things with
their lives. We thank all of them for their service including Maureen Miller, Violaine
The XXYY Project still works to raise our own money, directs how our own money is
used and decides what our priorities are for the XXYY community within the greater
x & y chromosome variation community. We still work to foster our own research
projects and we still work directly with Dr. Tartaglia on many things.
The difference is that we now collaborate much more with the other x & y
chromosome variations. Specifically, we have a joint conference and work together
on certain other important projects as outlined in the research and clinics subject
areas of this newsletter.
Continued on page 2
1
I n f o r m a t i o n
Batthish and Fran Braun who all dedicated time and energy to the XXYY Project for
several years.
O r g a n i z a t i o n
Research
In March of 2015, the XXYY Project moved under the umbrella of AXYS, the
T o p i c :
In this issue:
The XXYY Project continues to keep our own identity. We have done this because that is how people know us and
because of all we have built in this name. The XXYY Project is still building something, which is why we are named
XXYY “Project.”
T o p i c :
XXYY Project’s Move to AXYS: How it Works (continued from page 1)
The XXYY Project’s two main focus areas: research and clinic development
The XXYY Project’s move over to AXYS has caused those of us who remain with the XXYY Project to focus on how
focus on two things: XXYY Research and working with AXYS on more clinic development.
What this laser focus on research and clinics means to you is that we are changing the way that we work. For
years, our focus has been on developing our parent support systems and educating parents and others about
XXYY. We provided a great deal of 1:1 support to individual families, developed the XXYY library, provided support
through our listserv and held a symposium every year. We have developed materials as well, such as the paper by
Dr. Riley, a new paper on educational supports which was written by Renée and another to help parents make the
decision about when or whether their sons should drive.
Now, we are turning family support over to all of you. We will talk more about our communication methods
in that area of the newsletter. But now it is time for XXYY families to provide all of the support to one another.
We can no longer provide 1:1 support to families. There are many experts in our group who can answer questions.
We believe that we must focus on the much higher issues that will improve the lives of boys and men with XXYY
parents can now provide all of the support necessary to one another, along with the materials we have.
Finding the rest of the XXYY families who have not found us goes hand-in-hand with our two focus areas. This is a
sub-area of focus for the XXYY Project’s limited volunteers and resources now. AXYS provides the administrative
support we need, but it is still up to XXYY Project volunteers to make many things happen for you.
We are confident that as we move forward, you will see much quicker results in the areas of your greatest needs,
world-wide.
The XXYY Project is a global
organization serving the
interests of XXYY families.
2
I n f o r m a t i o n
much more effectively and more quickly. And those things happen through clinics and research, not through
volunteers spending all of our time on 1:1 support. This is a major change for the XXYY Project, but we know that
O r g a n i z a t i o n
to best spend our time and energy to move the XXYY Project forward. The decision has therefore been made to
The XXYY Project is working with the Nell Hodgson Woodruff School of Nursing
at Emory University on a new research project called “Living with the Genetic
Variation 48, XXYY: Voices of Patients & Caregivers.” This project focuses on
the daily lives of men with XXYY and their parents and caregivers. The goal is to
document our needs in order to foster more treatment and interventions. This project
is in the process of obtaining IRB approval and we are working on raising funding.
Research Project with AXYS: Ambassadors Program
XXYY specific
research is now one
of the two major
focus areas of the
XXYY Project.
The ambassadors program we have told you about through the listserv and email is
part of a research project with Emory University. It is funded by a grant from PCORI
(Patient Centered Research Institute). This project is collecting patient experiences
and needs through ambassadors representing children and adults with x & y
chromosome variations. This information is brought directly to clinicians and
researchers. Your ambassadors for XXYY are Larry Rakowski (representing children’s
issues) and Kyle Rupe, representing adults. You can provide input for this program
directly to Larry or Renée (for Kyle).
The axys axyon Patient Registry
A major new project will be launching from AXYS called the axys axyon
patient registry. This is a project being done in partnership with the
Genetic Alliance and it will have a major impact on XXYY research. Your
participation in this will be absolutely necessary. We will be looking for
100% participation from our XXYY community in this project, which is a
game changer for all of us in the x & y chromosome variation
community. News about the launch of this project is coming so make
sure you watch for it.
Recently published XXYY research
There has been some recent research on XXYY. None of these have been fostered by the XXYY Project, AXYS or
the eXtraordinarY Kids clinic, but are worth noting for your reference. We’ve included links.
Endodontic management of a hypertaurodontic tooth associated with 48, XXYY syndrome: A review
and case report. Velayutham Gopikrishna, Sridevi Krishnamoorthy, Department of Conservative Dentistry and
Endodontics, Thai Moogambigai Dental College, Dr. MGR Educational and Research Institute University, Chennai,
Tamil Nadu, India.
Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome.
Sefa Resim, Faruk Kucukdurmaz, Nazım Kankılıc, Ozlem Altunoren, Erkan Efe, and Can Benlioglu, “Cognitive,
Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome,” Case Reports in Genetics,
vol. 2015, Article ID 950574, 4 pages, 2015. doi:10.1155/2015/950574
The research by the NIMH that many of our families participated in has also been published. The XXYY Project and
AXYS did work with the NIMH on this:
Brain and Behavaior in 48, XXYY Syndrome. Hanley, A. P., Blumenthal, J. D., Lee, N. R., Baker, E. H., Clasen,
L. S., & Giedd, J. N. (2015). Brain and behavior in 48, XXYY syndrome. NeuroImage: Clinical, 8, 133-139.
3
R e s e a r c h
Once we are ready to start the research, we will let you know.
T o p i c :
New XXYY Research
We’ve stated that one of two major focuses of the XXYY Project is clinic development. As part of AXYS, a
considerable amount of our energy and resources will be used to bring clinics to you. AXYS has a new effort they
currently call the clinic consortium, but it will have its own name as a program. The clinic consortium brings doctors
together to develop model clinics to serve people with x & y chromosome variations. The model is based on the
original eXtraordinarY Kids clinic and Children’s Hospital of Colorado, where Dr. Tartaglia is. The consortium will
also develop treatment protocols for XXYY and all of the x & y chromosome variations.
involved in making these clinics a reality. Families make some of the contacts and approach the hospitals to open a
clinic because local hospitals respond to the needs of their communities. We and AXYS will be telling you more
about how to get involved in this groundbreaking effort.
This effort is already bearing fruit!
eXtraordinarY Kids Program Opens at Nemours
The Nemours eXtraordinarY Kids Program, located at the newly expanded
Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., recently
opened. This program is run by Dr. Judith Ross, who is a long-time
supporter of the x & y chromosome variation community. We encourage
you to check out this clinic if you are close to Delaware.
Click here for more information and how to schedule an
appointment.
Other clinic updates
The eXtraordinarY Kids clinic at Children’s Hospital in Denver continues to be the central clinic for XXYY
families in particular, but through the clinic consortium we know that the other clinics will be equally as able to serve
you. Dr. Tartaglia is still a very strong supporter of our XXYY families. This clinic is very busy and may not get back
to you immediately.
Click here for information and how to schedule an appointment
The eXceptional Kids Clinic at EmorY is currently on a hiatus in accepting new x & y chromosome variation
patients until their new developmental pediatrician is ready. Dr. Jeannie Visootsak, whom many of you know, left
the clinic earlier this year to pursue another career opportunity. We will let you know when they are ready again.
The Johns Hopkins KS clinic for adults is currently serving adults with KS. After speaking with them at the AXYS
conference about XXYY, we learned that they are open to serving our XXYY adults but have not seen XXYY patients.
Through the clinic consortium, our hope is that they will also learn more about your needs and develop more
treatment protocols for our XXYY population. We will keep you posted on developments at this clinic.
4
C l i n i c s
Clinics can be anywhere in the country and even throughout the world. The families we serve, including you, are
T o p i c :
AXYS Clinic Consortium: What it means to you
Whether you realize it or not, it is your greatest interest that
we find the rest of the XXYY families in the world. Without
them, we cannot know what the full spectrum of XXYY is,
what interventions have worked to help our boys and men or
what medical issues are prevalent in XXYY for certain.
be over 200,000 living in the world today. We have had a very prominent Internet presence ever since 1998. We
have been extremely easy to find in Internet searches, even before we were the XXYY Project. While we are proud
of our growth from four families when we started our support group in 1998 to 380 families today, it just is not
enough.
Because of this, we launched “Look for another XXYY family month” in September. We asked all of you to mail our
flyer to doctors, therapists, support groups for people with disabilities, speech and language pathologists and
anyone else you could think of that might know a XXYY family. This effort cannot end on September 30, 2015.
We need you to continue to do this until you find at least one other XXYY family in your area. Many of our families
think they are the only family in their area. Statistically, that is probably not true.
We simply must make it our mission as individual families to find these families.
Please click on this to view and print our flyer and send it out.
So Where Are They?
According to some statistics on Klinefelter Syndrome, it is possible that
only 25% of people with KS are diagnosed in their lifetimes. Although
many people think that XXYY is diagnosed more often than KS, we have
to wonder about that. Here’s our best guess at where our boys and
men with XXYY may be or why they may not be looking for us:
 They are in Autism groups. We believe that once they are
diagnosed with Autism, nobody goes looking for another diagnosis.
Since many of our boys are diagnosed on the Autism spectrum, this
is possible. And we have seen this to be true when families come to
us.

They are possibly living typical lives. If we are like the Klinefelter
group, there are men living typical lives with XXYY who have never
needed a diagnosis.

They are in the care of others who are not looking for a diagnosis.
It’s possible that many of the older men who should exist in the
world have simply aged to the point where nobody is seeking a
diagnosis for them anymore.
We have a document called How to Identify XXYY that
can be sent to Autism groups and support groups to help
find our families as well.
5
We need all of our XXYY
families to be actively
looking for the rest
of our XXYY families.
O u t r e a c h
The XXYY Project currently knows only 380 families world-wide after searching for them since 1998. There should
T o p i c :
Finding the Rest of Our XXYY Families
T o p i c :
We had 13 XXYY families proudly in attendance at the AXYS Families Conference in July of
this year. We had a great time and were welcomed fully by the rest of the x & y
chromosome variation community. The next AXYS conference will be in 2017. The
location has not yet been chosen.
XXYY World-Wide, Regional Events to Replace Symposium in 2016
What our families have always wanted the most is to meet other families in close proximity to them. While we are
a small population world-wide, your wish has come true. We will have XXYY events all over the world in 2016.
The event planning is under way and all events will be posted on our Web site. Most of them will be posted by the
end of October. These events will replace the 2016 symposium and will take place on every continent in the
world. In some places like the U.S. and Europe, we will have several events.
Sydney, Australia & London, England events in October 2015!
Two new events for 2015 were very recently added to the calendar!
Register here to receive more information!
XXYY Moms Getaway Weekend!
We’ve always talked about it and now it’s going to happen!
You voted on the location and the dates! So XXYY Moms
Getaway Weekend will happen in beautiful Savannah,
Georgia. We will let you know when it is time to register and
make your reservations!
Savannah, Georgia
Other Events
Now that we are more connected to the rest of the x & y chromosome variation community, we are also being
invited to attend other events world-wide. Recently, a Klinefelter group in the Netherlands had a fantastic event
featuring our own Dr. T and Dr. Sophie van Rijn, whom we also know for her research. At least one of our families
attended this event. There’s another group in Australia that has said we can join them any time as well. We will let
you know when we know about these.
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E v e n t s
Team XXYY at the AXYS Conference
As we’ve told you at the beginning of this newsletter, XXYY Parent Support will now be handled solely through our
Listserv and through documents we have prepared to assist you with various situations. We will not provide any
1:1 support for families. If you have a need, you must take it to the listserv where the other parents can answer
your questions. Our families are now the primary experts in XXYY support and can answer all of your questions.
Please do not call us to answer questions or to assist with educational and other issues. All of these issues can be
handled through the Listserv. You can also attend the conferences and events for more.
T o p i c :
XXYY Parent Support
O t h e r
48, XXYY Family Support UK
We are thrilled to tell you that members of
our UK family have developed a support
platform and events for our UK members. We
encourage all of our UK members to
participate in their activities. The XXYY
Project is working very closely with their support group in many different ways. To join their group, go
here.
If you follow our Facebook page, you know that there was some big news posted recently
about one of our guys. His story reached about 20,000 people on Facebook.
X X Y Y
Alex Wanted to Play Football
This is Alex. He just made his football team. Yes, we said football - American style, everyone
the football team? Say NO-of course! Well he didn't like my answer and kept asking-over and
over and over again. I asked him why he wanted to play football. His reply "Mom if I play football kids will think
I'm cool and will be nice to me, and I get to sit at cool kids table at lunch and the uniform is cool"
I don't cry very often but the floodgates opened and I couldn't stop it. I explained that mean kids will always be
mean even if you're on the football team. Things might actually be worse because they will tell you that you aren't
very good at football.
"I just want to try Mom"
We met with the coaches to explain Alex's challenges and his reasons for wanting to join the team. They
encouraged us to let him try.
I am shocked, happy, scared, and proud to say he made it through the 2 weeks of Summer conditioning.
Everyday was a challenge but he made it and officially received his uniform. Today is the first day of school and
the football jamboree. All players wear their jersey to school. I thought it would be difficult to wake him up early
for the first day of school but he was awake on his own, dressed and outside waiting for the bus 30 minutes early!
Unlike most parents I dread the first day of school. Alex goes back to a world I have no control over. Middle
School is so difficult for him, and for most children with "invisible disabilities". He looks like everyone else yet he's
different enough that he doesn't fit in with anyone. It's a lonely world for him. He struggles so much academically
and socially.
My family and friends are gathering together tonight at the High School for the Jamboree. My guess is that he will
have the largest cheering section in the stands tonight. I'm so thankful and grateful for all the love and support
from everyone.
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N e w s
in a pile, football. Please congratulate him! Here's more about his story from his mom:
What do you do when your 13 year old son with 48xxyy Syndrome tells you he wants join
T o p i c :
The XXYY Project is proud to announce the creation of the Ryan Scovell Memorial XXYY Research Fund. The fund
was set up to honor Ryan and his family. Donations specifically designated to this fund will be set aside by the
XXYY Project to fund XXYY research projects.
Ryan was a much-loved member of the XXYY community. He was a joyful, giving man who brightened our events
and our entire community. His passing in 2014 was a crushing blow to all of us who knew him. It is essential that
we have answers to the medical issues faced by our boys and men with XXYY. So we will do it in Ryan’s name.
The XXYY Project currently needs to raise $11,150 to fund our research project focused on
adults with XXYY, as outlined in the research section of the newsletter. We ask you to make a generous donation
to the Ryan Scovell Memorial XXYY Research Fund for this purpose. Funds raised over and above $11,150 will be
set aside for our future research projects, which we expect to increase as a result of the new axys axyon patient
registry. XXYY research is extremely important to developing future treatments and interventions for our guys.
To make a donation to the Ryan Scovell Memorial XXYY Research Fund, click on this
link, which will take you to
the AXYS donation page. Make sure you put a note on your donation that says: Ryan Scovell XXYY Research Fund
so that AXYS designates your donation for this fund. We will keep you posted on our progress at raising money for
this fund as well.
There are rarely ever any grants to fund research for conditions like XXYY. We cannot expect to receive huge
grants for research. We need donations for our research.
Support AXYS, too!
We want to thank all of our XXYY families who have been donating not only to the XXYY Project, but also to AXYS.
We all need to support AXYS so they can continue to operate and help all of us! Remember, some companies will
match the donations of their employees. Be sure to ask your employer for a matching donation to AXYS and the
XXYY Project!
XXYY Swag and Cookbooks
The XXYY Project has some great swag and cookbooks for sale. When you buy our stuff, you are supporting the
XXYY Project in all of our goals! Check out our spirit bands, car magnets, t-shirts and cookbooks on our Web site.
For those of you who don’t remember when we created our cookbook, it is full of recipes from our families along
with some fun ones from our guys with XXYY.
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F u n d r a i s i n g
Announcing: The Ryan Scovell Memorial XXYY Research Fund
The XXYY Project has decided to close the XXYY Library at the end of 2015. If there is something you need from
the XXYY Library, we urge you go in there and get it ASAP. The library does not have IT support anymore. If you
lost your password, chances are you will not be able to get in there. We will be transferring documents to a new
location in the future, which will probably be within the AXYS Web site. We will let you know.
Join the Listserv if you haven’t already
With the closing of the XXYY Library, the XXYY ParentNetwork Listserv will be the only form of support
communication. We do not have a Facebook group and most likely will not open one for XXYY support. Until or
unless technology catches up with our exceptional need for privacy, we will not use a Facebook group or another
platform. The XXYY Library was designed to address this issue, but families did not use it and that is why we are
closing it. We can’t support a platform that people won’t use. You will need to join the listserv for support if you
aren’t there already. Go here to join.
Our Public Facebook Page is a Happening Place!
The XXYY Project does have a public Facebook page where we interact with you and the world about XXYY
Syndrome. We ask you not only to “Like” our page, but also “Favorite” our page and interact with it very often. As
you know, Facebook has special algorithms for how they will “serve up” content to people who like a page. It
means you may often NOT see our posts in your feed, even if you like our page. We need your help to make sure
everyone sees our posts! Go here to Like our XXYY Facebook page! AXYS also has a Facebook page. Like and
favorite them as well! Go here to Like the AXYS Facebook page!
Constant Contact
The XXYY Project and AXYS also communicate news to you through Constant Contact. The big problem we are
having is that our emails may be going to your spam folders! Please put these email addresses on your “safe” list in
your email: [email protected] and [email protected].
About Snail Mail
The XXYY Project will only be sending a minimal amount of snail mail. You may also receive some limited snail mail
from AXYS.
We’re on Twitter
If you are a Twitter fan like we are, be sure to
follow us @xxyyproject.
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C o m m u n i c a t i o n
XXYY Library is Closing at the End of 2015
T o p i c :
The Ways the XXYY Project will communicate with
you:
 The Listserv
 Constant Contact Email
 Facebook
 Our Web site
 Twitter