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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.

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.

 

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.

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.

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.

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.

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.

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.

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 (2012), 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!

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.

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.

Are You a DeXY Kid?

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