From Parents

Dr. Carole Samango-Sprouse, founder of The Focus Foundation, receives letters and emails from parents with updates about how their children are doing. She also hears from parents whose sons and daughters have recently received a diagnosis of having an X & Y Variation, Developmental Dyspraxia, and/or Dyslexia. The following are excerpts from a few of these messages.

Names and other identifying details have been changed to protect patient privacy. Letters have been edited for clarity and space.

XY Variations family stories

Stories From Our Families

Wil is 17 months old and he’s 4 days-post his 2nd of 3 T-shots, all made possible by the team at The Focus Foundation, after our visit with the most knowledgeable of professionals.

Now, let me tell you, his development in the last 6 weeks is absolutely mind-blowing!!

He not only started walking, but running, babbling, and eating up a storm! We were stuck in purée and low muscle tone and development for 6 months prior.

I am so grateful for the help and interventions my boy clearly needed. He is thriving!!! Carole Samango-Sprouse, Liz, the team, and all the donors that made our visit possible, thank you doesn’t feel big enough!

I want to thank you so much for being part of my life. You may not realize it, but I draw strength from your spirit, I work harder because you believe in me.

I hope you know that you make a positive difference in the world; I want you to know that your gift is to make others play larger and better and more passionately…. that’s how change is made.

Your ability to inspire people daily in both small and large ways makes a difference.  You’ve made huge difference in my family’s journey for the last 15 years.

Thank you so much for the card that you sent me. It was really nice that you thought of me. A lot has gone on since I saw you last. For starters, last year I was nominated and inducted into the National Junior Honor Society at my Middle School. Second, last Nov. I had my Bar-Mitzvah and enjoyed it to the fullest. Another thing is that I achieved the rank of Lifescout in Boy Scouts, which is one rank below Eagle Scout. Finally, last summer was the best one yet. It included a Philadelphia Eagles game, a New York Yankees game, going to a waterpark, and hanging out with my family and friends. In this upcoming November, I am going on a family vacation in St. Johns!!! I can’t wait! Thanks again for the card!

At 6-1/2 – Couldn’t be more proud of him than I am right now! As I was walking to catch the bus to work, I remember being told a workbook I bought for him was too advanced. It was a book of ABCs, 123, colors and shapes. Confused I asked, so what do you teach a two year old? Not a special needs kid but a two year old? All I got was it was too advanced. So I’m not sure if it was a black thing, boy thing or a special needs thing. I just kept my mouth shut. My child. My lessons. As evident every year since head start, he went to school prepared. He knew what he needed to know for that grade level and learned more along the way. Getting him in school services is hard because they look at him as being to smart for anything to be wrong with him. But we got them (thanks to Dr Sprouse)! Everything is possible thru God but he does need for us to put in some work too. So I thank him for guiding us and sending Angels to help us (the doctors, therapists and teachers who saw past his disorder and treated him as one of the class and the local organization) and his main doctors, Dr Baker (diagnosed him on first visit and told us don’t wait) and Dr Sprouse, who was the first to break through to him and let him know he was gonna win this battle! 😀. Holly, for the words of encouragement from day 1 when i just found out hours before he could be on the spectrum and made calls to get us to Dr Sprouse.  And more importantly, still being there 4 years later. God bless you!
And thanks to you all for the words of encouragement and prayers.

My son was two when we noticed some differences in our son alongside other children. At the time, our pediatrician was skeptical that there was anything wrong with our child, even though he had speech delay, gross motor delays, sensory issues and social difficulties. She actually said to me, “You are thinking too much.”  I replied that there may be something tying all these symptoms together and demanded full testing. After the blood test, my son was diagnosed with XXY. We soon went to see Dr. Sprouse.  We live outside of the United States, so travel and expense was no small feat. I have to say that seeing Dr. Sprouse was the best thing we ever did.  Not only was she able to give us information about XXY, but she was also able to diagnose my son with dyspraxia (something we never heard of).  She was able to test my son cognitively and physically and give us syndrome-specific issues to target.  Because of lack of services and funding in our community, our son was being denied help because he was deemed “not severe” by professionals who knew nothing about XXY. Dr. Sprouse was instrumental in helping us access services. She spoke directly to our therapists and was able to convince them to double my son’s therapy time.  She was also able to speak directly to the issues XXY boys face.  Now our therapists are motivated and better informed and we as parents are ecstatic with the results we have seen in our son after receiving help.  I can’t thank Dr. Sprouse enough.  When we were being shut out of any chance of getting help for our son, she was the only one willing to advocate for him.  Now, we have reports and testing that we can share with all of my son’s doctors, therapists and teachers. Also, we as parents feel better informed about how to best help our son through her support.  I would highly recommend The Focus Foundation.

As Jake approaches his 25th birthday, I find myself reflecting on his journey with xxxxy. He has come so far from when we were first given a very dated article, with little to no information about his syndrome. At 8 months old, we were told we may have to institutionalize him…not a chance that this would ever be an option for us. This was in 1994 before there was much information on the internet! We were filled with fear of what life might bring for our baby. I did as much research as possible and immersed him in any and all therapies available. We even tried some unconventional (at the time) fish oil supplements and therapy approaches, always following Jake’s lead and with the support of Jake’s pediatrician. We began to see Jake reach his milestones, just at his own pace. Our biggest fear, Jake would never speak. Finally, at age 7, something clicked with one particular therapist. The speech started to come along and the sign language and communication devices were used less and less! Around this time, we met Dr. Sprouse and began attending the 49er conferences. Not only did Dr. Sprouse become and advocate for Jake, we also felt we were helping her learn more about this syndrome so that other boys and their families just receiving this diagnosis would not ever be given the misinformation that we received. Dr. Sprouse helped provide valuable information to Jake’s team of teachers and doctors and even telephone conferenced for an I.E.P meeting so that Jake’s teachers could better understand his needs and my concerns.

If I could go back and reassure my younger self, some of my mantras would definitely be: “never say never”, “never give up”, and “be patient, things will happen in due time”. We definitely had some struggles along the way, frustration outbursts, hip surgeries, and bullying to name a few but Jake always surprised us with his strength and determination. Jake reached all of his milestones, he just reached them at his own pace! He has accomplished more than we could have hoped and we know he will continue to set and meet new goals for himself. Jake graduated high school with a certificate of attendance and attended college classes with a mentor. He has worked at several retail stores, Lowe’s Home Improvement, and currently works as a custodian at our local YMCA. He loves video games and has multiple gaming channels on YouTube. He also enjoys creating street art with chalk, making PowerPoints, playing basketball, rap music and hanging out with his friends and girlfriend. Yes, girlfriend! They enjoy going out to dinner, attending monthly dances and just being together. Recently, Jake asked me where the doctor who said he might not ever accomplish anything was. (That doctor has since passed away) I asked why? His response, “I would like to go see him and tell him everything I do!” Never say Never. Never give up. Be patient – things will happen in due time and most importantly enjoy and embrace your son’s uniqueness!

If I were to have the chance to sit down with the parents of a newly diagnosed special needs child, I would have so much to say.

First, I would tell them although it doesn’t feel like it at this moment, everything is going to be ok. I too felt like you, like the world was collapsing around me. I can look back and confidently say you too will get through this! But I’d also say, allow yourself time to grieve the child you had scripted in your mind. While they may not be what had planned for, they are going to give you so much more than you ever could have imagined.

Second, I’d say you must surround yourself with others who “get it.” Other parents who understand all you are going through. Those people will be friends for life. Also, build yourself a good team of doctors, therapists, counselors, and others who will support you in the many challenges you will face. Having trusted professionals that you can turn to is worth its weight in gold. Remember you do not have to do this alone.

Lastly, make sure you take care of yourself. WITHOUT GUILT. If you are not good to yourself, how can you be the best for your child? Ask for help. Take the nap. Go eat a hot meal. Your child needs all of you. And then I’d tell you to buckle your seatbelt and enjoy the ride. You will learn to celebrate the seemingly tiny things in life that others take for granted. What a blessing!!!

As for Dr. Sprouse, words cannot express the gratefulness we feel for having her, and her team, in our lives. She has bountiful knowledge on our kids and is just so fulfilled by sharing it with her patients and their families. She will do whatever it takes to get our children exactly what they need. Having Dr. Sprouse as an expert on your side is priceless. And she does it with joy. Now that we have been with her for several years, it feels good to know that while we are still learning and growing, she’s taking our experiences and sharing them with families of younger children. Families helping families! Thank you, Dr. Sprouse! We love you!!!

We began visiting with Dr. Sprouse about our daughter’s 47,XXX, before she was even born. The counsel on what to expect, and the confidence that came with preparing ourselves, was invaluable. We’ve been able to stay ahead of challenges, by getting additional developmental support services and being better educated ourselves, on how to ensure we’re giving our daughter everything she needs, to reach her full potential. Seeing Dr. Sprouse annually is critical for understanding how she’s progressing and what we need to watch for. The visit is always a good motivator, too, to stay on top of what’s next, because a child’s development doesn’t stand still!

Without Dr. Sprouse’s years of research and experience with girls like ours, we’d likely be confused, frustrated and wondering what to do. Instead, we’re confident our daughter will be well-prepared for Kindergarten and proud that she’s happy, self-assured, curious and finding her voice.

47,XXY Diagnosis Story

Recently I was scheduling my 15-year-old son’s yearly visit with Dr. Samango-Sprouse, whom we’ve been seeing regularly since he was about 8 months old. I was asked, now that he’s older, what advice might I give to my younger self? I told my husband, and we both started mulling over the things from our shared experience that might be helpful to pass on to other parents.

The first thing that I would remind myself, upon hearing my son’s diagnosis, is that this genetic anomaly is just one piece of him, one piece of a much larger whole. It doesn’t define him, it simply is a part of him, like his red hair, or his dry sense of humor. The next thing that I would remind myself is how helpful it is to KNOW about that piece of him. They say that knowledge is power, and I think in this situation it is exceptionally true. Whether you are receiving your child’s diagnosis prenatally, as we did, or whether you’re figuring it out when they’re a teenager, knowing what challenges might present themselves is a huge gift because it allows you to prepare for them, and to tackle them head-on. Surround yourself with knowledgeable, supportive physicians and educators, and listen to what they have to say. Be pro-active. When my son was a toddler, there were times when we were at a different therapy every day of the week. It was a lot of work, but the results were incredible. He entered elementary school without any extra services and hasn’t needed them since. He’s now in his first year of high school, and loves basketball, playing the trumpet, and giving his well-meaning parents a hard time. His grades are great. He’s every bit as typical as kids with a typical karyotype.

Fifteen years ago, I hung up the phone after receiving the results of my prenatal genetic testing and sat at my kitchen table. I was scared and overwhelmed, but I was lucky enough to have been put in touch with another mother who had received a similar diagnosis for her son. She gave me the names of some doctors that she’d seen, but the best thing she did was tell me how well her son was doing. She helped us appreciate the information that we’d been given, and helped to steer us toward the people that would become our medical and educational support team (Dr. Samango-Sprouse and the incredible staff at the Focus Foundation!) I hope, by sharing our own experience, that we’ve been able to do the same for other parents with newly diagnosed children.

XYY Diagnosis Story

I remember the phone call when a doctor I’d never met told me that our prenatal cvs results had come back “abnormal.” She briefly explained that the XYY finding was considered abnormal but ”wasn’t terrible.” Some studies showed that it might be linked to a higher risk of learning disabilities and autism. This was the very short form, quickly googled explanation. I hung up the phone and called my husband at the office and could barely breathe through the sobs that we had received another abnormal prenatal diagnosis. I gasped out what I knew that there was an extra Y chromosome making the baby XYY. My husband started googling and told me that what he was seeing seemed ok and that maybe this wasn’t bad news at all. In full disclosure, we had lost a baby the year before after receiving a poor prenatal diagnosis during our level 2 ultrasound. It was considered a total fluke and I had only done a cvs this time so I could reassure myself as early as possible that everything would be ok. I couldn’t believe that lighting had struck twice.

We returned to the NYU geneticist who had helped us during our previous pregnancy and he assured us that this was happy news and not at all what we had faced before. I felt so much better and started researching XYY. As any XY variation parent will tell you, there is a lot of outdated and even completely false information on the internet about XY variations. I saw all of that but also found resources like the NDC foundation. We live in New York City and when I found out that one of the few experts studying XY variations was just a couple of hours away in the D.C. area, I was elated. We made contact but things were not going to be so simple. Unrelated to the XYY diagnosis, I developed pregnancy complications and was hospitalized with placenta accreta for the remained of my pregnancy and our little boy was born about six weeks early when I had third massive bleed due to problems with the placenta and my previous c-sections with his older sisters.

Our son spent some time in the NICU and came home about ten days after his birth. We brought him to visit Dr. Carole Samango- Sprouse at the NDC when he was about 6 months old. Our son has been followed yearly his entire life and is now a happy, healthy nine-year-old boy.

If you saw him, you would think he was adorable, funny and smart. We certainly do. He is beloved by his parents, sisters, grandparents, friends, and teachers. He considers himself to be “awesome” at math, loves his karate, hip hop dance class and playing with Star Wars action figures.

We’ve had challenges along the way. As the statistics indicated, he does have some learning differences. I was never sure if that was related to his premature birth and vision problems that are likely linked to that prematurity or the XYY. Our yearly visits and reports from Dr. Sprouse were so valuable because we were able to get early intervention services and then educational supports with the careful documentation and evaluations she provided. Having the knowledge ahead of time that he might have some developmental challenges has made it so we are always watching out for difficulties. Knowing our child’s diagnosis put us in the position of being proactive versus reactive with any problems that have come up. Having two older school-aged children without an XY variation has given me the perspective that neurotypical children face their share of learning differences, behavioral and health challenges. I know this from the many children we’ve known through our school communities who have faced learning differences or other challenges. Having the resources of NDC and Dr. Carole just a phone call away has made things infinitely easier for us. If I had to give advice to my younger self when she was about to receive that phone call over nine years ago it would be this. There are no guarantees, road maps or cookie cutter answers when it comes to parenting. The same thing goes with a child who has a chromosomal variation. I would tell her not to be afraid because just like with your other children, this is going to be harder than you can imagine but you will experience joy and pride in your child and who he or she is becoming that you can’t fathom just yet. Parenthood, marriage, life itself has surprised the hell (forgive my language) out of me all along the way.

My bottom line would be that no matter what diagnosis, label, challenge or path you are on the most important thing is to seek help, connect with others who care about the same thing that you do (your child) and keep doing your best. Loving your child and doing the best you can do seek out help and support is going to be more than enough. Our story hasn’t been fully realized yet. I dream of someday reading what my son writes about his diagnosis, school life (including college), what career he chose and family life. I have just as many hopes and dreams for him as I do for my girls with two XX chromosomes. One day, one week, one year at a time. The days are long but the years are short.

Your Child Has XYY Story

Your child has XYY Syndrome. I’ll never forget the day we heard those words. Our son was only 2 ½ years old with his whole life ahead of him and we didn’t even know what XYY meant. The geneticist told us that there was not much information out there regarding this genetic disorder, and what was out there, seemed discouraging but outdated, so I should “Just stay off the internet”. So naturally, I went home and got online.

It was 2006 and if you thought there isn’t much information online now, there was far less then. What I did find wasn’t good and the more I read, the more upset I was. Not knowing what else to do I called my pediatrician and told him what we found out with the genetic testing. He didn’t have another patient that had this issue. He had never really heard of it. So, he started googling it while we were on the phone. His advice to me… “Stay off the internet.” So naturally, when we hung up the phone, I got back online. That proved to be the best decision I ever made. It was then that I ran across a conference that had happened earlier in the year. One of the speakers was Dr. Carole Samango-Sprouse and she was speaking on Sex Chromosome disorders. She was the first person I came across who actually had factual information on this disorder. So, I googled some more and found out that she was only a few hours away from us in Maryland. I called that day and made an appointment.

I walked into that appointment a nervous wreck and I walked out feeling as if someone just lifted a thousand-pound weight off my shoulders. I knew right then that everything would be okay. We finally had a partner in this journey and together we would make sure that our son got the help he needed, even before he needed it, because Dr. Sprouse knew what was to come and helped us to head it off before we were behind the ball. That was our plan then, and 13 ½ years later it is still our plan. We continue to see Dr. Sprouse every year and we let her set the plan that we put in place for the next year. When an issue comes up, we call her. If we feel that our son needs to talk with her during the year, she Face Times with him. When he was having trouble with his knees and ankles, she looked at his feet and ankles over Face Time and decided he needed orthotics put in his shoes (which made the world of difference). She is the friend, nanny, doctor and expert that everyone needs to have in their lives while they are raising kids.

During his younger years, he had needed help in some areas; speech, reading, and fine motor skills. We took him to therapists and put in the time to work with him. One by one, we watched his weaker areas come back up to age level. He learned to tie his shoes, ride a bike and swim (despite his protests). During his middle school years his delayed executive function wreaked havoc on his organizational skills. With Dr. Sprouse’s help, we learned some strategies to help him stay on track to get his school work completed, and turned in on time. His 8th grade year, we decided to finally disclose his diagnosis to the school. He now benefits from extra time on tests and has the ability to complete all his work and take all his notes on the computer. It wasn’t always easy, but when we saw that he was struggling, we advocated for the resources in school to help him succeed. Now, he is finishing up his Freshman year in high school. The change from Middle School to High School didn’t come easy and it took a full semester before he began to pull all the new responsibilities and freedoms together. We still have to stay on top of his assignments, but we are confident that he will go to college in a few years and he will be successful.

When I think back to those early days, months, and years after diagnosis I can still remember how on edge I was about what the future held. If I could go back and do it all over again, the thing I would tell myself is to not let the diagnosis define who he is. Not to be so quick to blame his behaviors and struggles on the diagnosis and don’t let them have a “free pass” because of the diagnosis. I have four kids. Two biological boys and two adopted girls from China. They all grew up with their own set of challenges. All four kids needed Speech Therapy. (So did I come to think of it!) Three of the four needed Occupational Therapy. Two of the four struggle in math, (my XYY son happens to be a math whiz) and despite signing them all up in the early years for basketball, soccer and T-Ball, none of our kids are athletic. But all of this, all of their strengths and all of their weaknesses is what life is all about. Many kids have areas where they need help, even without a diagnosis. Many kids walk later, talk later, read later than “typically developing” kids (does anyone even have a “typically developing” child?!) Toddlers have temper tantrums and teenagers have mood swings. They don’t need to have extra X’s or Y’s to go through those stages. But as a parent who sees their child struggling, you get them the help they need. Having a child with a sex chromosome disorder is no different. Give him/her the same rules that you would give to any other child. My XYY’er is now 15 ½ and he’s a caring, loving, and good hearted teenage boy. Out of all four of my kids he’s the first to hug me, kiss me and tell me he loves me. But most of all, don’t let the diagnosis define who they are or what they can become. Just love them and enjoy the ride.

Special Olympics in Canada

An Update from the B.C. Winter Games

Brandon Cote recently participated in the BC Winter Games for Special Olympics (the equivalent of the Provincials). Brandon competed in three alpine ski events: the Slalom, the Giant Slalom, and the Super G. This was his first Winter Games and he came away with three bronze medals– one for each event!

Brandon showed off his medals in the parade with the Special Olympics at the 2015 IPC Alpine Skiing World Championships for Paralympic athletes. Beneath you can see Brandon in action skiing in one of the three races he placed. Congratulations Brandon! We are all so proud of you!

Invermere Special Olympic athletes head to B.C. Winter Games The Invermere Special Olympic group is proud to be sending athletes to the B.C. Special Olympic Winter Games for the first time. Brandon Cote and Marlow Feldmann will be joining the rest of the 60 Region One (the Kootenay Region) team athletes for the Winter Games in Kamloops on February 20th and 21st, with both Invermere residents participating in all the alpine skiing events — slalom, GS (giant slalom), and Super G (super giant slalom).

“I think they (the athletes) are pretty excited. For us (the local Special Olympic volunteers) there is a great deal of satisfaction in seeing the program grow to the point that athletes can attend out-of-town events,” said Invermere Special Olympics local co-ordinator Mike Fairhart. “Hopefully this will be a kind of impetus to draw more people to the program. We do welcome everybody with an intellectual disability, not only those who want to compete, but also those who just want to participate.”

Read the rest of the article here.

From the mother of a 9 year old boy with 47, XXY and his success in school

Just saw your newsletter, and am reminded that we are grateful that we knew from the beginning, as hard as that news was to take. We have seen such a turn around in our son- the combination of the Lindamood Bell and Vyvance (an ADD med) has made a world of difference for him. In January of last year, the school was telling us they couldn’t help him, couldn’t teach him and weren’t going to bring him back. With your help, they saw him with new eyes, with LMB he learned to read and with Vyvance he stays on task.

When the new semester starts in January, he will be mainstreamed in math (to an intermediate, not basic, class) and it is likely that he will be mainstreamed in reading by the end of the year or the beginning of next year! He actually has already met the criteria, but they want to take it slow and make sure he is successful in math first.

The Vyvance has done him a world of good, he’s no longer falling asleep at 8pm, his headaches have all but disappeared, and getting him to do his homework is much less traumatic. His chess rating has also gone up 400 points in the last couple of months, and he’s taking home trophies from every tournament (tied for 1st place for his rating group for the 3rd grade in the National Grades championship).

All in all, things are going well for Ben.

From the mother of an 11 year old boy with 49, XXXXY

I just wanted to thank you so much for pushing so hard to get our son’s hands checked over. It took us half a year and three specialists later to finally figure out he has a form of juvenile arthritis. I have no idea whether this might be a 49’er thing or his own thing, but at least we now know why his hands are doing what they’re doing.

Were it not for your tenacity it may have gone under-diagnosed for years. We are so lucky to have you involved with our son’s care.

From the mother of a 4-year-old boy with 49 XXXXY

David is doing very well in regular school. He knows his ABCs, numbers, colors, figures. He is not embarrassed to speak his ‘language’ and he makes himself understood. He is happy in school. We are so proud of him! His success also means that early stimulation has made a difference.

A mother who learned of her daughter’s X & Y Variation through prenatal testing

I know how hard it is when you get the diagnosis at 16 weeks due to having had an amniocentisis. I went through everything I could find on the web before my daughter was born (she is now 8), consulted other mothers and a geneticist. In a particularly well-meaning but perhaps not well thought-out gesture, the geneticist even showed me a photo of a 47XXX girl to demonstrate that my daughter would look totally normal. But the picture she showed me was of a girl from Mongolia—literally—which couldn’t help but raise the specter of Downs Syndrome in my mind. The pregnancy was very stressful but I’m thrilled with my daughter.

The mother of a boy with XXY reports on her son’s first day of kindergarten

Today was Ian’s first day of school and he seems to be doing great. He left on the bus this morning in a playful, happy and excited mood—a complete 180 degree difference from our failed attempts at school last year. Ian has elected to continue with karate this school year instead of ballet, which he took over the summer and really got into. He has also mastered riding his bike without training wheels! My boy is really growing! I can’t tell you how confident my husband and I are that holding Ian back this year was the best choice for his success going forward.

From the mother of a boy newly diagnosed with XXY

My son was two when we noticed some differences in him alongside other children. At the time our pediatrician was skeptical that there was anything wrong even though our child had speech delay, gross motor delays, sensory issues and social difficulties. She actually said to me, “You are thinking too much.” I replied that there may be something tying all these symptoms together and demanded full testing. After the blood test my son was diagnosed with XXY.

We soon went to see Dr. Samango-Sprouse. We live outside of the United States so travel and expense was no small feat. I have to say that seeing Dr. Samango-Sprouse was the best thing we ever did. Not only was she able to give us information about XXY, but she was also able to diagnose my son with dyspraxia (something we never heard of). She tested my son cognitively and physically and gave us syndrome-specific issues to target. Because of the lack of services and funding in our community, our son was being denied help because he was deemed “not severe” by professionals who knew nothing about XXY. Dr. Samango-Sprouse was instrumental in helping us access services. She spoke directly to our therapists and was able to convince them to double my son’s therapy time. She was also able to speak directly to the issues XXY boys face. Now our therapists are motivated and better informed and we as parents are ecstatic with the results we have seen in our son after receiving help.

I can’t thank Dr. Samango-Sprouse enough. When we were being shut out of any chance of getting help for our son, she was the only one willing to advocate for him. Now, we have reports and testing that we can share with all of my son’s doctors, therapists and teachers. Also, as parents, we feel better informed about how to best help our son through her support. I would highly recommend Dr. Samango-Sprouse and The Focus Foundation.

From the mother of a long-time patient of Dr. Sprouse

My son, Christopher, age 14 is 47,XXY. He was prenatally diagnosed, and has been evaluated by Dr. Sprouse regularly since the age of 4 months. He was placed in an early childhood special education class at the age of 4 and has had an IEP in place since that time.

Chris is a 7th grader this year and is doing quite well. He made the Honor Roll (for the first time!) the first grading period, and again in the second. He was also chosen as one of January’s “Students of the Month” by his teaching team. Even though he made the Honor Roll, the reading specialist confirmed that he still has problems formulating ideas and getting them down on paper. She has been wonderful about helping Chris show that he knows the material by using alternate testing methods when she sees that he is struggling with a subject. At his IEP Meeting recently, the reading specialist even recommended an additional accommodation instead of reducing services. I had sent Dr. Sprouse’s evaluation early in the school year and that helped her to have a better understanding of Chris’ learning challenges. Through the years, all of Chris’ teachers and educational support staff have appreciated recveiving Dr. Sprouse’s annual evaluations so that they could better understand his strengths and weaknesses. Those evaluations have been instrumental to his current achievement.

Chris has played soccer in the Spring and Fall in the county league for the last three years, and during the off-seasons, he attends soccer camps sponsored by the D.C. United (professional) soccer team. He loves it, which is something I didn’t think I’d ever say about Chris and playing a sport.

It has been quite rewarding to watch Chris “blossom” this year, with achievements at school and in soccer. It continues to be challenging for him, but I believe that he will continue to do well. As part of his IEP this year, the specialist worked with Chris on a Transition Plan. When she asked Chris what he wanted to do in the future, one of the things he said was that he wanted to go to college and study Math. More power to him!

Letter from a family in despair

The following letter is a clear example of the desperation, sadness and confusion families experience due to the lack of accurate information about their child’s condition, and the dearth of specialists who can help them. The letter shows how dangerously uninformed medical and educational professionals—and the public-at-large—are about X & Y Variations.

We need your help. My husband and I have been extremely worried about our baby’s condition after we were told via amniocentesis that we indeed have an XXY boy due in three months. The baby kicks so much and I really want to continue bonding with him but it has been so hard because I keep thinking of all I’ve read and been told.

First, we were told by our ob/gyn that we should terminate the pregnancy because the baby would be abnormal and suffer many sexual problems throughout his life: Not a girl, but also not a boy, he said. (I was 4-1/2 months pregnant when we were told this.) This was simply devastating to us. We’ve been told that issues of anxiety, severe depression, etc., in these boys can be very hard to deal with. Although after speaking with several genetic counselors and a geneticist that’s apparently not always the case. Needless to say, I have been very sad and preoccupied with what we are going to do.

The support groups and other information on the web have been helpful but so much of it is so confusing. Many websites say that these boys are either transgender or have gone through a sex change operation.

We’ve contacted about 10 pediatricians in our area and all say they’ve never treated anyone with XXY. The special education director had never heard of the condition even after working at the school district for 30 years. If the condition is fairly common why are so few professionals aware of it?

This last week we interviewed a pretty well known pediatrician in our area. He said he had to “read up on Kleinfelter’s syndrome again” because he had never treated anyone with KS in his 20 years of practice. This worries us because we’d like someone who treats KS babies and children on a regular basis.

We have a loving and caring family. We are blessed with support from our community. We can handle whatever God sends our way. We want to be as informed as possible and have the tools to help our son with anything he may need.

Note from Dr. Samango-Sprouse: Contrary to what the letter writer was told by the doctors she met, children with X & Y Variations are not genderless, they are not transgendered and they do not suffer sexual problems throughout their life.

From the father of a three-year-old boy with 47 XXY

My son was diagnosed just over a year ago. We had been concerned about him for more than a year before that. Our pediatrician called us paranoid, telling us everything was alright. We pushed for tests, and the pediatrician came back “surprised” to find our son’s diagnosis. She gave us a one page handout from a 20-year-old textbook. It mentioned he would be prone to criminal activity. She also said, “You probably won’t want to put him in French immersion classes because he will have language problems.” She shook our hands and that was it. A week after the diagnosis we located Dr. Carole Samango-Sprouse. We went to see her as soon as we could. We’re fortunate enough to have been able to afford the trip.

Back home, we had to wait seven months to access therapy services in our city. Once we got in, the providers knew nothing about 47 XXY and very little about Dyspraxia. We offered them books about Dyspraxia, but they seemed to have zero pro-active interest in treating Jack as a complicated 47 XXY. They would do as they knew. Jack seemed to have basic skills (although delayed and weak). They essentially told us he was fine. We received four 45-minute sessions of physical therapy and were to receive eight sessions of occupational therapy. After that, they would send someone to his nursery school once a month and then, eventually, once every three months. We were frustrated to say the least.

After being told that Jack would be receiving next to no services, we contacted Dr. Samango-Sprouse and, since we live far from her Maryland office, we asked if we could Skype with her(for those of you who don’t know, Skype is an online video chat service) to discuss our situation. We asked if she could at least try and keep us on the rails with broad based or specific information to help our little guy with the prospect of no focused help in our city. She agreed to meet with us by Skype, and suggested that our PT and OT be there as well. They agreed and came to our house for a Skype meeting, during which Dr. Samango-Sprouse shared her knowledge of 47 XXY and, specifically, Jack. She talked to them about the underlying issues of his condition and the fact that, if they do not treat him, he will get exponentially worse.

After the meeting with Dr. Samango-Sprouse the therapists agreed to “try” to offer our guy as much therapy as they could. They agreed to meet with us and Dr. Samango-Sprouse again in six months via Skype. This turnaround has been a breath of fresh air for us. We left the meeting feeling very good, for a few reasons:

  • There are people around that advocate strongly for our boys
  • PT and OT agreed to get our guy more treatment!
  • If presented with information in a positive manner, professionals who’ve been unconcerned can become interested. A little massage goes a long way.
  • Giving our therapists the opportunity to speak with Dr. Samango-Sprouse has made them interested in knowing more about a population of boys that is passing through their doors undiagnosed. I believe they actually may have realized this, for the first time ever, in the meeting. It was interesting to watch.

We are relieved that Jack has more of an opportunity to receive local help. I’m also hopeful that if other families succeed in the taking the same types of baby steps, the path for future 47 XXY boys could potentially be a little smoother.