An appointment we were genuinely excited for, turned to complete shit within the first 15 minutes of our meeting. !warning – unorganized rant ahead!
*I’m not going to publicly say where we were at or the Dr.’s name (however if you email me I would be more than happy to)*
A couple of weeks ago, we took Cheeks to his first geneticist appointment here locally in Reno. We didn’t know that there was one in town so we were extremely excited when we learned we could take Cheeks to a local Dr. rather than travel out of state.
After about a months wait, our appointment finally came. I had a wide range of questions that I wanted to discuss as well as was excited to hopefully learn some new things about KS I may not have known already.
When the Dr. came into the room, her demeanor was very… bitchy is probably the real term, but to be nice we will say harsh.
She rushed through the opening of her discussion and took out a stapled pamphlet and began “teaching” us about KS…(it would be nice if I could meet a Dr. who doesn’t have to read something off to me that I have already read)…. anyways – as she was rush reading through the paper, she stopped at a point where it talked about Tip of the Tongue phenomenon (you know that moment when you are trying to think of a word and its right at the tip of your tongue and you can’t figure it out?). She said that boys with KS struggle with this on a different level and that Cheeks will more than likely have this happen.
I thought to myself as she was talking, Cool… we will work on it – *cut off by Dr * “So your son is either going to internalize this and not make any friends, or he will become aggressive and you will have a lot of issues.”……… ok… waiting for the third option…… nothing…. blank stares… Me: “Well he has been doing pretty good right now and we are really working on trying to alleviate some of these issues -” Her: “Well he is only two.. once he hits about 5 everything goes down hill.”………………………What? I mean shit lady, lets throw another fucking black cloud on an already stressful situation.. You could have said something positive here. Fuck.
So she goes on talking more about unless information and categorizing my son into different groups… and at this point my anger thermometer is just sllllooooowwwwlllyyy growing… and then the mother load of stupid fucking comments came.
“OH.. and your son will more than likely not go to college.. KS men don’t go to college..” UM…. EXCUSE ME? “…..But its ok though..” (she can OBVIOUSLY see my face of pure explosion at this point).. “Blue collar work is fine too..”……Ok bitch… ok.. and I’m done. Not only was I extremely offended, but I just couldn’t fathom that something so ignorant, stupid, and insensitive was coming out of her mouth. And if you’re reading that and you think, awe thats not too bad… add a condescending and degrading tone on it and then re read. I. Was. PISSED.
So now that this main story (and trust me this isn’t even the whole appointment.. many more things happened), let’s discuss how I am feeling about all of this.
First of all.. I cannot wrap my head around how this woman was hired at a special needs facility. She was harsh, aggressive, insensitive, and honestly I didn’t think she knew as much about KS as she lead on. I don’t say that because the bullshit that ensued at our meeting, but supposedly she had a large amount of clients with KS and also extensive amounts of knowledge.. yet still read everything from a pamphlet..and any time I had a question, she read her answer from the papers.. I call bullshit on that. Personal opinion and not fact.. but my gut tells me bullshit.
Second, give us a little bit of fucking hope man. I left the meeting in tears because I felt that the whole thing was just her saying that your son is not going to succeed and this and that. You don’t even know my son.. you don’t know us.. I felt no hope… no positive.. and scared.
Listen, I am ok with hearing information that maybe I didn’t want to hear.. I’m ok with that. But KS is NOT a disease. There is a wide range of symptoms he COULD have.. not WILL have.. so there is a very large possibility that the things she listed will not happen. THAT and we found out when Cheeks was so young.. there is a lot of early prevention that we are blessed that we can start now.
Third, I absolutely FUCKING HATE when I feel like another fucking number at the DMV. All I want is a Dr. to sit down and TALK to me. Not spout off some random information that is easily accessible online and then make me feel stupid when I have legitimate questions about development and future planning. We need for Dr.s to help support us… not make us feel incompetent.
Needless to say – if you haven’t gotten the vibe already – we will not be seeing said Dr. again, and have plans to in fact travel outside of the state to hopefully get a better plan on the future to come.
Cheeks has been developing SOO wonderfully and we want to keep this momentum going!
Mamma Bluette 
Forscher
Yep, fuck it. I know a lot of XXY men studying and having studied. I studied myself. Can’t doesn’t exist in my vocabulary.
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MammaBluette
That’s exactly how I look at it as well… and there was nothing said like… but with some encouragement, with some tutoring, with some counseling.. NOTHING.
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xxyzguy
This has always been really hard to get through to people, but I’ll try. KS males are all males who have any degree of additional X genetic material, regardless of how many X’s. Males with XXXY and XXYY and XXXXY are all said to have KS, and they are the most severely affected. None of them will be attending higher education. XXY males can have mild educational difficulty. As most are never diagnosed we don’t know how many go on to higher education. But if we just lump them all together under one title, KS, then the Geneticist will be right to say the child here supposedly with KS won’t go on to college. That would be a fair assessment. He might surprise everybody, some do, he might not be as severely affected as the average XXY, if an ‘average’ could be described? I don’t know any XXY men studying anywhere.
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Forscher
Neither is it true that XXY are automatically all males nor is it true to say that males with XXXY will not attend higher education.
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glglissman
Also not true that XXY or XXXY or any other SCA signature will automatically have Klinefelter Syndrome.
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xxyzguy
March 1, 2016 at 2:05 am
“Neither is it true that XXY are automatically all males”
Yes I know that, but we’re not talking about XXY females, so there’s no point at all in saying it. I see you didn’t say some XY’s are female, some XX’s a male, but both statements are true too.
“nor is it true to say that males with XXXY will not attend higher education.”
Yes it is true, they’re mentally deficient. They’re not going to go to college, probably won’t finish high school. XXYY’s are the same, and also XXXXY’s, then there’s the mosaics like XXXXY/XXXXXY they’re mentally retarded.
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Forscher
sorry but you’re generalising people with XXXY, XXYY and XXXXY. Although it’s true that increasing number of X/Y chromosomes will reduce cognitive ability, it is not true to say that all people with these conditions will be unable to attend higher education, see e.g. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314712/
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xxyzguy
There is absolutely nothing in the link you provided that would cause me to change my mind, in fact it confirms what I already believe. Did you read it yourself or just copy and paste the link? Here’s a quote “Cognitive involvement is almost universal; however, again 48,XXYY and 48,XXXY are typically less affected compared with 49,XXXXY. It is estimated that cognitive abilities decrease by 10–15 IQ points for each additional X chromosome” which I don’t think applies to XXY’s.
I’d say these people will not be attending higher education, I say they’re cognitively impaired, and the 49’ers + mentally retarded. People with cognitive impairment do not attend university or partake in normal Tertiary studies.
Of course if you can find a report of a 49er who attended university, performs cognitively well, cares for himself, lives an independent life requiring no special interventions, I’ll be more than happy to read it. Do you have anything like that?
It’s not an insult to talk about people with cognitive impairment and what they are capable of, and why they are cognitively impaired. Sex chromosome aneuploidy is a cause of mental retardation. It’s not really a big deal.
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Forscher
ill-defined verbal skills do not exclude from college or university. There are a lot of nonverbal autistic people at university who were supposed to be mentally retarded which turned out to be true.
The article also says …
“In 48,XXYY, the cognitive deficits range from milder language-based learning disabilities (reading disability, dyslexia”
Significantly enhanced disabilities doesn’t mean it’s impossible to have higher education with that condition, that’s all I want to say. Otherwise, you repeat the words of the critisized geneticist. I would never say to a mother of a child with 48,XXYY, that it will never have higher education.
I also wonder in these IQ studies if greater nonverbal skills are taken into account. For children with autism, it turned out that the completely nonverbal Raven IQ test provides higher scores than the partly verbal Wechsler IQ test which is standard in IQ testing. In that way, a lot of autistic people are much more intelligent than previously assumed. I won’t exclude that possibility with X+ syndroms.
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xxyzguy
I don’t actually tell parents of children with any SCA anything about their child, I let them tell me their experiences, just like here. But you can come to my blog, find a topic and discuss XXYY etc all day long if you like?
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Genine
I think with parents like the two of you Cheeks is a very lucky boy, who will in fact do well because you are being proactive and are so dedicated to his development in a way that not all parents are for their children. It’s shitty that you had that experience locally, I am sure there are better doctors else where who can help you! Hang in there…as far as I can tell, and I’m sure most who know you, you’re doing a great job as parents!! Hugs!!
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gglissman
So sorry to hear this. What an awful experience and TOTALLY unnecessary. I am also sorry to say it is far from infrequent. My experience has been 90% of endocrinologists do not have a clue about current XXY research and treatment and definitely have no idea about interdisciplinary treatment models. It is a really sorrowful situation and so many parents are being given poor, incomplete and misleading information. It is an absolute priority to get this changed. We’re making tiny steps of progress but not nearly enough and certainly not fast enough.
I know you know where to look for a specialty clinic (Denver) and I’m happy to report that three more specialty clinics have opened in the past year (Mt Sinai – LA: Emory – Atlanta and Johns Hopkins – Baltimore). There are 8 more in progress. Visit here to keep an eye out for the new ones as they begin services: http://www.genetic.org/Support/Clinics.aspx
And as you also know, there are thousands of XXY guys that go on to college, some with advanced degrees and many, many of them with successful businesses and careers. I’m just about as angry with the person you met with as you are. I hope you find a way to report her to someone that can do something about it. I’m not so interested in punishing her as I am getting her to learn more and understand current research on XXY.
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xxyzguy
glglissman
March 1, 2016 at 4:08 am
“Also not true that XXY or XXXY or any other SCA signature will automatically have Klinefelter Syndrome.”
They’re not born with it true. But that’s the whole reason why Mamma Bluette had such a problem seeing the geneticist, as far as they’re concerned KS exist prenatally simply by the presence of just 1 additional X. Changing the minds of parents and doctors is an uphill struggle, as Mamma Bluette says in another of her posts, as it is titled, “I will never stop talking about Klinefelters’ syndrome” that is how the additional X in her son was originally described and that is what she believes it is.
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Aunt Debbie
I understand you are being sensitive in not posting the doctor’s name; however, as you search for a new doctor, i assume there is some feedback site you can check for endorsements or complaints to help you find the right person. Please consider posting your review of this doctor on those sites. Many parents aren’t as savvy as you are, and your review may keep them from feeling hopeless after an appointment with the witch doctor. Stay strong, you are wonderful parents and Cheeks has a wonderful life ahead of him. Growing up with parents who believe you can follow your passion wherever it leads makes a huge difference in a child’s life. I am not educated on KS, but I’ve met some pretty amazing people who refused to be pigeonholed by a challenge other folks thought they were limited by
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MammaBluette
Agreed! I will do that
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Andrew Rider
First of all put a complaint in to the governing body and then forget about everything she said.
KS does not equal doom and gloom and the whole ‘we’re mentally retarded’ saga is grossly inaccurate and outdated.
I was quiet as a child but still had friends. I’m 34 now and was only diagnosed 16 months ago. In terms of college, and you can quote me on this… if we’re so dumb why have people like me achieved without assistance a university degree in one of the hardest subjects to learn (law)? I personally know a fair few people with KS who are highly educated and have very well paid jobs.
Don’t get me wrong I’ve had my struggles/issues but we can become independent and grow out of them. It’s not just me but we’re very good at adapting our lifestyles and masking our issues so that your average person will be none the wiser to our KS.
Anyways, you were/may be still a member of ‘nuts’ on Facebook (group I run) so whether it be on here or there, I’m more than happy to help you with any queries/concerns you have 🙂
Andy
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MammaBluette
I appreciate that Andy!! and yes – the director of the facility has already reached out to me. We have development teachers helping cheeks because they are a free service and it doesn’t hurt – so the I told the case manager about it all and she went to the higher ups. Thanks for your comment and appreciate your support!
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Jenna Menore
Hi. I think I’ve spoken with you through this blog before. I live up at LakeTahoe and my 6 year old has KS. He was also a preemie so we automatically got follow ups at the mind institute at UC Davis to follow his development progress. They seemed to know some about klinefelters but I unfortunately missed the window of the mini puberty to get the testosterone for micro penis. Then we were referred to an endocrinologist and they told us to come back when he was about 9. Wtf. I don’t want to miss any thing new that can be done. He, according to his kindergarten teacher and school psychologist, is doing fine as of now. I just wished I could talk to a professional from time to time that knows everything that is going on.
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MammaBluette
UC Davis is on our list for sure!!! We need to get together one of these days!!
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Jenna Menore
Let’s do that! Please let me know if you find a knowledgeable doctor and I will do the same for you😊
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xxyzguy
That’s weird. The last time I went to see a Geneticist she told me I probably knew more than her! I agree. We got on really well from that point. I went for repeat genetic testing as the Endocrinologist, or somebody, lost my karyotype. The Geneticist appointment was an automatic referral from the positive test which we all knew was going to be positive, I just wanted that photograph of my karyotype. 😀
Now then, as most XXY’s specifically are not diagnosed, and most XXYY’s specifically are diagnosed, as they have markedly different presentation, yet they’re all said to have KS and the severe difficulty XXYY’s experience are added to the mild difficulty XXY’s experience. So calling all males with additional X genetic material KS males creates its own difficulty. Children who are XXY get labelled with things they don’t have, and probably will never have. The Geneticist will not take that into account if s/he’s trained to call them all KS males. If I were at your appointment I’d be educating the doctor no problems at all. I’d not expect them to have more knowledge than me.
When I was first diagnosed there was genetic counselling, just not for me. My parents were the ones it was targeted towards. Times have changed, at least in some regards.
As far as I know, (and since it’s about America that won’t be very much), there’s no reason why you can’t seek out a different Geneticist/Genetic Counsellor, maybe another one will speak in terms you better appreciate? To me this is all just ‘ho hum, run of the mill, been there done that, stuff.’ What can a Geneticist actually offer as in what to expect for the future? Maybe you can tell us if you find another one to talk to? What about AXYS ( genetic.org ) do they have doctors you can check out?
Oh and KS is most definitely a disease. I don’t know why people have this idea that ‘syndrome’ isn’t a reference to disease when it means “SYMPTOMS OF DISEASE.” The question is, does your son have the disease? And I can assure you he doesn’t, as he isn’t old enough. Klinefelters’ syndrome manifests after the onset of puberty. Ahh but you’ve been taught from day 1 that XXY and KS are the same things and you’re going to say your son has KS no matter what, as that’s all you know. But then think, what does the Geneticist know, and what training has she had? She imparted what she knows, how she was taught. How she delivered her talk is all she has ever known.
A recent report from Australia says 85% of KS males are never diagnosed. I think that’s probably XXY males are never diagnosed, as those with more X’s have more severe difficulty and would be discovered much more readily because of them. .
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xxyzguy
“She rushed through the opening of her discussion and took out a stapled pamphlet and began “teaching” us about KS…(it would be nice if I could meet a Dr. who doesn’t have to read something off to me that I have already read)”
Have you ever thought that you know all there is to know? If you want really intricate detail you need to lead the doctor along those lines. They’re used to dealing with people who know literally nothing. I use the words of the medical profession when I talk to them. I talk about aneuploidy, and X inactivation, and hypogonadism, and seminiferous tubule dysgenesis. They understand those words, what words do you use? If you don’t let the doctors know you’re informed, they’ll treat you as if you’re not informed, and they not mind readers, you actually have to tell them what you know. Try it, next time.
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MammaBluette
Like many of my blog posts – I don’t give out all details of the meeting. Yes – it was stated that I had done some research.
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xxyzguy
But have you considered you have all there is to know? When I was diagnosed there wasn’t any information at all, absolutely nothing. No internet, just whatever could be gleaned from my doctor and library books. People today have it so much easier, which is good. Good that we can access all manner of information on the internet. Your son is doing really well from what you say.
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Optimist
It’s so different in Israel. Although not so much is known about XXY (there is so little accurate information out there) it’s a totally different attitude here. It’s NOT true that all XXYs have learning difficulties and my understanding is that those who do – if you know they have Klinefelter – you can teach them in a way they can grasp similar to helping a dyslexic kid and then they can be just as good as the next one. We were told IQ is not necessarily affected but even if it is, assuming they are from an acaedmic family or have a decent IQ, of course they can go to university!!! Our little boy is only one so it’s all new to us but aside from being slower in crawling/walking (which apparently with him isn’t necessarily because of his XXY) he seems an intelligent little boy and developing normally. All the professionals we have so far talked to (GP, geneticist, endocrynolgist, paediatrician specialising in child development and physiotherapists – they like referrring to doctors here and medical care is hugely subsidised, they have all been so positive and told us to treat him like any other little boy as he is totally normal which he is! Sorry for your experience but just know (which you do) that she is ignorant and uninformed and that many professionals would disagree with her. Keep positive and try not to dwell on the Klinefelter/XXY (they told us not to call it Klinefelter as he may never develop any symptoms). Good luck and thank you so much for your updates. Hope you have a positive experience with the next geneticist.
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MammaBluette
Thank you so much for your comment!!
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MammaBluette
I love getting comments on my posts, and I appreciate each and every one of you for commenting and sharing information. However I want to remind you all that this is not a medical site – this is my blog where I talk about my experiences. I am open for discussions on here – however I am not up for arguments or attacks on other peoples opinions or information. Take that to the Facebook groups. Not here.
Respectfully, Mamma Bluette
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Sean Nancekivell
I just came across your blog this evening while wandering the internet. I have Klinefelter’s Syndrome, unfortunately I didn’t find out until I was 32. With that being said I have had an interesting life. I did luck out in the sense that my symptoms are mild and not overwhelming and I had parents who pushed me, believed in me.
I didn’t walk until I was 3 years old, I didn’t talk until I was 4. But what I have done amszes people. I have 3 college diplomas (associate degrees in America) and a bachelor’s Degree Sociology. I’ve been a teacher in China & Mongolia, restaurant manager, outreach worker, carnival ride operator, camo counselor, pioneer blacksmith in a museum. I’ve done public speaking in front of groups of up to 5000 people and been a mentor in Big Brothers.
I’ve run marathons, raced mountain bikes and climbed Buddhist Holy Mountains
Klinefelter’s is not a hindrance too me, it is a part of who I am and has shaped my life experiences. Is life a struggle… sure, but we learn coping methods to handle those situations.
Don’t let doctors or Klinefelter’s define your son.
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Gary
Great post, Sean. AXYS (www.axysgenetic.org) is just getting ready to release a new version of our website. Would it be OK if we used your story above on our Family and Individual story page? Let me know if we can use your name and if you have a current photo we could include you can email it to me at garyglissman@hotmail.com. Thanks!
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