47 XXY - My Exxtra Special Baby Boy

A Special Baby

  Boys that are diagnosed as being 47 XXY prenatally have a much better prognosis than boys diagnosed later in life.  I am so grateful that I had that amniocentesis. It gave us the chance to prepare for our special little boy and have appointments lined up for him before he was even born.

  Matt was such a sweet little man right from the beginning.  He was a much quieter baby than his sister had been. By the time he was 2 days old we realized he was tongue tied and having trouble nursing so the ENT clipped his frenulum so that he could move his tongue better. This condition is hereditary and his sister and father had been tongue tied at birth. It was a simple, in office procedure and he only cried for a moment. However, he still did have trouble nursing even after that.  

  I learned from one of our specialists, Dr. Samango Sprouse that many 47 XXY boys have difficulty nursing. At two months of age, Matthew had his first appointment with Dr Samango Sprouse. She is a neurodevelopmentalist with an emphasis on young children with genetic disorders. She also has extensive knowledge and expertise in working with little boys such as Matt with 47 XXY.  We are very lucky because she is located within a couple of hours of our home. People travel from all over the country to bring their children to her because of her special qualifications.

  Matthew also met with Dr. Judith Ross, a pediatric endocrinologist at Thomas Jefferson University Hospital. She directs clinical research that focuses on Turner syndrome (47 XXX) and Klinefelter Syndrome (47 XXY). Matthew was examined thoroughly and enrolled in the first of several studies that he’s participated in. I heard someone say very negatively that they resented their child being a guinea pig and that they would not do studies. I disagree wholeheartedly. The studies that Matthew has participated in have done things for both him and others. He received free care by Dr. Ross and was tracked very closely for his first few years by a doctor with vast knowledge of the anomaly that he has and how children are affected. She provided us with test results as well as recommendations. In my opinion, the participation of our family did help Matt in many ways. It also helps to educate others on a condition that is not well understood. Finally, hopefully, the things that are learned in this study will help other children with 47 XXY, and possibly even Matt in the future.  Dr. Ross also prescribed a course of testosterone injections for him at the age of 4, 5 and 6 months old. This is to mimic the testosterone surge that a normal, 46 XY boy would have. After each of the injections, Matthew was much more active and reached his milestones such as rolling over and sitting up. There was a marked difference in his activity level and his progress.

  One thing that both Dr. Ross and Dr Samango Sprouse strongly encouraged was that we get in contact with our state’s birth to three program.  I’d never heard of the program before and had to spend a little time tracking down who to call. Our coordinator came when he was 3 months old to do our qualification. I had a copy of Matt’s diagnosis for her and Matt qualified automatically based on that.  Based on the recommendations of Dr Samango Sprouse and Dr Ross, we started out with a physical therapist and a developmentalist who was also our coordinator. They comprised our team in the beginning. I can’t say enough wonderful things about this program. Throughout the three years we participated in it, we worked with wonderful, dedicated and very well qualified individuals that came to our home weekly to help Matthew. They usually brought a bag of toys or items to help him and he looked forward to them coming. He expectantly looked to see who was at the door whenever it rang and was thrilled to see them. They spent time working with him and also showing me things I could do to help my son.  As he got older we added and dropped specialists based on his needs at the time. At around a year of age, we added both an occupational therapist and speech therapist. Matthew never really babbled or made a lot of the vocalizations that my other children had done. He seemed completely uninterested in talking.  Dr. Samango Sprouse had recommended that we use infant sign language with Matthew to help him get past his frustrations at not being able to communicate well.  That was very effective and he quickly learned the signs. The birth to three program also provided us with Ellie cards. A huge binder filled with photographs of food, toys, and other things that a child might wish to ask for. We put some of the ones we used often on the refrigerator so that he could show us what he wanted. The birth to three program is free and every state has some form of the program, but West Virginia’s was really fabulous. I highly recommend checking into it if you suspect your child may be delayed in any developmental areas.

  The only thing that I found disturbing is the unwillingness of our insurance companies to provide any assistance at all. They do not consider these specialists to be medically necessary and do not reimburse us at all. I find that very sad because the services that they provide are so helpful at giving these boys the best start possible. When an insurance company will not assist in any way at all, it puts this care out of reach for many children and families that would benefit tremendously from it.

Comments 11 comments

XXY mommy  5 years ago

I'm surprised by the testonerone injections at such a young age. I have to ask my doc about this...although he is not to familiar with Klinefelters. "Dr. Ross also prescribed a course of testosterone injections for him at the age of 4, 5 and 6 months old. This is to mimic the testosterone surge that a normal, 46 XY boy would have."

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pandora99 5 years ago from Charles Town, West Virginia Author

Many doctors didn't do them at the time my little man was that young. My pediatrician's input was, "It can't hurt and it may help." I had actually been told about the injections from a 47 XXY adult and I asked many specialists their opinion on it before choosing to go with Dr. Ross.

Cindy 5 years ago

Great job! Our 13 y.o. XXY could have benefitted from such early T treatment. We are still having trouble getting the Endos to provide T at this age and he clearly would benefit. One more try with our UVA Endos, then it's off to see Dr. Paduch where we will spend lots of money (unreimbursed by insurance) but get what he needs.

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pandora99 5 years ago from Charles Town, West Virginia Author

Thank you Cindy! I'd love to hear more about your son. I'm surprised that at 13 they are hesitant to do the treatment, how frustrating that must be for you but it's good to hear that you do have a doctor you can go to and get the care he needs. I find it very sad that insurance reimburses nothing, I've run into that too with many things but I am also hopeful that as more people become educated about 47 XXY that will change.

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WallStickerDecals 5 years ago from US

He is indeed quite special, not just for your family but to everyone else as well.

Claire 5 years ago

We just saw Dr. Ross for the first time yesterday, for our Hayden who is 3 and a half and 47xxy. He is currently enrolled in special needs preschool where he gets speech, OT and PT every day, one-on-one. We really liked Dr. Ross and Hayden will see her again next year to track his progress.

pandora99 profile image

pandora99 5 years ago from Charles Town, West Virginia Author

I'm so glad you saw her Claire, we love Dr Ross. Honestly, Actually, I love all of Matt's doctors, we've been so fortunate in finding specialists that are knowledgeable, competent, caring and just all around wonderful. I hope that your experiences are as positive as ours has been. I wish you and Hayden the best.

kjw 4 years ago

hello! my 9 mom old has xxy, diagnosed @ 2 weeks of age. he recently began a 3 mo course of T therapy. insurance denied the claim 2x stating that there wasn't enough evidence to prove the therapy would work. he is currently receiving early intervention from the state as well as private PT through our insurance for low muscle tone. i'd love to touch base with mothers of young sons with this. if you see dr. ross, you can't be too far from me :)

pandora99 profile image

pandora99 4 years ago from Charles Town, West Virginia Author

Hello! It sounds like you are pretty close and I'd love to talk to you. You can email me at pandora991@gmail.com.

Kjw214 4 years ago

We are 20 min from Philly. My son's endo works closely with dr ross and that was one of the deciding factors in moving forward on our own for the T treatment (out of pocket but do-able). I was thrilled to have finally found an endo that knows xxy and has current research and knowledge of it. She's endo # 3 for us! It's been a looooooong 9 months of research and following my gut but I was not about to accept the "there's nothing we can do now...come back in 11 years" advice I was getting. I will certainly email you when I have a min to do so. I'm currently on my iPad, rocking a sleeping baby :)

Kelly Powell 4 years ago

I would not put my xxy son in a special needs preschool or school. He needs to hear typical language and be exposed to as much language as possible. The ulitimate goal is just to be a regualr kid in a regualr school. I have shyed away from all "special" settings and it has paid off handsomely. I just act as if he is the same as everyone else and there is lots of positive outcomes for this.

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