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My son has klinefelters

Posted , 11 users are following.

Arma1975
Arma1975

Where to start other than my only son is 21months old and my world he got diagnosed with klinefelters when in his mother's womb then confirmed at birth when docters tested his blood from placenta anyway me and his mother are no longer together she no longer speaks it that bad when I tried to talk to her about sons situation she said she would ring the police anyway my concern is my sons speech he only has 5words sorry make that 7 as I taught him to say sky and plane earlier today but did any one have problems when really young and with there speech my sons health visitor says she will check him when he 24months old but that 3month away and I know his age now is important for his speech development and I have actually spoken to a speech and language therapist who has sent me a referral form and said to send it back ASAP as son should be saying more words my son still calls me mam 10month after saying mam as his 1st word it seems as if he never going to call me DAD. People say he a late learner I hope he is but deep down I know it klinefelters. I am one desperate dad trying to get as much info as possible for my boy. Sorry for the long story

2 likes, 20 replies

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  • Pip999
    Pip999 Arma1975

    Posted

    Hi if u go on google and enter Kline felters a load of stuff about it will come up and there some groups u can join to hope this helps
    • Arma1975
      Arma1975 Pip999

      Posted

      Thank you. Yes I have done as much as possible spoke to people but it people like my sons Docter and health visitor when I have tried to explain they just fob me off and say we will check yr son when he 24 months old which is no good as that will be 3months wasted
  • Arma1975
    Arma1975

    Posted

    Today I finding it extremely difficult to find a speech therapist for my son I have filled a referral form & sent it off to the NHS it will take 3 to 4 month to get appointment but it now he should be seen it getting to the point my son is having temper tantrums as he can't say whatever word he wants to say he has 5 words I hope it just he a late learner but after speaking to parents of klinefelters boys & reading how it effects boys in early speech & language well I hope I'm wrong

    • donna64516
      donna64516 Arma1975

      Posted

      Look into a birth to three program that you can be referred to by your pediatrition.  Look up some signs on the internet and start teaching your son.  Do your best to show him your full attention and you will soon learn his cues as to his needs and wants.  My boy can't talk (yet), but he has learned to communicate so well.  He can still throw a pretty good tantrum when he doesn't get what he wants or play has to stop, but it's not all the time.  As long as you boy isn't tantruming multiple times a day, it is still pretty normal of a toddler to tantrum even without KS.

  • donna64516
    donna64516 Arma1975

    Posted

    My 3yr old son was diagnosed XXY in utero as well.  He has been in therapy since he was 3 months old and now is in Special Needs preschool and still isn't talking although he understands everything I say.  He doesn't say daddy either but can say mama.  M's are a bit easier to sound out.  I think it's just a delay as he has been delayed with most everything.  By looking at him you would never know.  He is gorgeous, smart (recognizes all his letters, colors and numbers), he is funny and cheeky, and is so easy to take out in public to stores and restaurants.  He has some sensory issues with food, a lot actually.  That is our biggest struggle.  He is definitely a pleaser and is very sensitive and loving.  I will be happy to discuss any questions you might have as finding parents of small children with KS is very rare at the moment, but I am sure more will develope in time when genetic testing becomes more frequent.  I don't believe it's the end of the world and as long as you stay on top of things with therapy and lots of love and support and patience, then the advancement in Science and knowlege of KS are to our and our child's benifit.  Please don't let your ex negate this diagnosis.  Intervention is so important.  Hope this helps.   

    • brenda84377
      brenda84377 donna64516

      Posted

      My son was just diagnosed via amnio. My husband and I are trying to read as much as we can. How did you find your pediatrician? We want to find a doctor who will work closely with us and the little guy when he's here, any advice on how you identified the right doctor would be great. 

  • donna64516
    donna64516 Arma1975

    Posted

    This is coming from the US.  Not sure where you are from.
    • Arma1975
      Arma1975 donna64516

      Posted

      Thank you Donna we are in the UK but klinefelters is the same no matter where in the world we are .My boy is advanced at everything he understands what I say but it is his speech which is behind .Just want someone to assess him now and not have to wait till he 24months old
    • donna64516
      donna64516 Arma1975

      Posted

      Yes, I am very aware KS is everywhere, but demographics is important due to the programs available. My son started therapy at 3 months of age due to his diagnosis and lack of using his left hand. He uses both hands now just fine, but continued to be delayed in rolling over, walking, and of course, speech. The U.K. has been doing the mother's free cell DNA testing two years longer than the US and the abortion rate is very high with this diagnosis. I didn't see that as being an option and am hoping to advocate against termination. Without my son, he is the youngest of three, I would not have such sunshine in my life, and those around him would truly be missing out. Your little one should be receiving services within his preschool, but having an evaluation with the disability services in your area, would open up more avenues outside of your pediatrician. This is where demographics is concerned, because I am not familiar with the services that are provided in the U.K., only the US.

    • Arma1975
      Arma1975 donna64516

      Posted

      I'm struggling to get anyone to even check my son out at the moment his health visitor says wait till he 24month old so this could be 3months wasted whilst waiting which I'm not happy about

    • ed91263
      ed91263 donna64516

      Posted

      Facebook has several support groups,,,,,   search Klienfelters Syndrome

          47 xxy,,, good luck ..

       

  • ed91263
    ed91263 Arma1975

    Posted

    Hello,, I am 53, now,,,,  I was diagnosed when trying to conceive at 30,, and it wasnt working .. Long story short,, my fault,, DX with 47 xxy mosaic .. 

     Yes,, he will be a slow learner, and be anti-socail,,  weak,, and possibly have

      AHDH,, ??  a learning disability ....  Get on Facebook and search Klienfelters Syndrome,,,,,, there are several support groups that can help,,, so much ...   Good Luck,, with your son ..

  • john75639
    john75639 Arma1975

    Posted

    Most doctors don't understand Klinefelters Syndrome so they don't know how to handle when it happens to young children. There are current books on the subject, but I think if you write to the clinic in Aurora Colorado in the US, the Children's Hospital, they have a clinic for xxy children.

    Or contact

    They have resources that can help you find help for your child.

    Every xxy individual is unique, not every child has adhd, or tantrums.

    In my case as a child, I was a very calm person.Very shy and didn't really talk until I was 6 years old. But something happened to me when I was younger as my relatives have told me. I said I was a sissy , they laughed and it was the last time I talked until age 6. Some xxy have anger issues, some do not. Most are intelligent. Some have college degrees. Yes, speech therapists are needed with some children. Language can be a problem.

    I hope you can get better informed about xxy. The internet has tons of information

    Good luck in your quest.

    More and more xxy clinics in the US are being started. Hopefully the UK will get one in the future.

    Moderator comment: I have removed the link(s) directing to site(s) unsuitable for inclusion in the forums. If users want this information please use the Private Message service to request the details.

    http://patient.uservoice.com/knowledgebase/articles/398316-adding-links-to-posts

    http://patient.uservoice.com/knowledgebase/articles/398331-private-messages

  • john75639
    john75639 Arma1975

    Posted

    I recently went to a chromosome convention in Aurora Colorado in the US. and I picked up a small pamphlet called For EXtra. Special BoYs., a Guide to 47, xxy, Klinefelters Syndrome .

    It was put out by th AXYS group recently. which is a association for X and Y variations .

    You can find them on the internet, but be wary there are lot of groups using axys lettering.

    I am sure they could easily send you one.

    Dr. Nicole Tartaglia is currently working at the EXtraordinarY.Kids Clinic at the Children's Hospital in Aurora Colorado. She has done research and it is on the internet. You can also find information on the US. National Institute of Health on the internet, which may be helpful in finding information on xxy.

    Too bad you didn't go to the chromosome convention held in June. It would have been a great experience for you meeting other families dealing with their child who has xxy, xyy, xxyy or one individual who was xxxxy. These were boys but the convention also included girls with xxx.

    I hope this goes through the moderator on this forum.

  • john75639
    john75639 Arma1975

    Posted

    If you go to the axys variations website, under the title CLINICS, there are several new clinics that treat xxy individual. Mostly in the US, in Los Angeles, Stanford, CA, Wilmington Delaware, Atlanta Georgia, Chicago Illinois and Baltimore Maryland.

    The information is too long to put it on this post. But at least it can give you somewhere to go, instead of traveling to Aurora Colorado.

    I hope this is helpful. Good luck

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