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Sherlock Syndrome

4 Feb

For seven years, the question “What does Maura have?” has come up.  First, it was us asking it.  Then, it was others – friends, therapists, schools, strangers.

People – including us – want to know what causes Maura’s issues – her delays and seizures and other things.  The answer has always been “I don’t know.”

When Maura was three,  Josh finally asked a doctor point blank “Do you think she has something?”  The doctor answered “Oh yes!  I know she has something.  But what that something is, you may never know.”

See, my daughter’s condition isn’t really that sexy to medical researchers.  She’s pretty healthy, she has no regression, she makes progress – even if it’s slower than a snail on a dry day – and there aren’t 5000 Maura’s running around the metropolitan area.  So it’s just not worth it to those medical researchers to investigate why my daughter is the way she is.

That is the harsh reality we deal with constantly.  Another doctor did reassure us that after a while, and after lots of testing, not having a diagnosis is actually a good thing – because it means we’ve ruled out a lot of the more scary, devastating diagnoses.  Which is true.  But it doesn’t make you feel less stupid answering “I don’t know.” to people’s questions.

When your child doesn’t have a “proper” diagnosis, the world becomes…well…more interesting.  You live your life viewing things differently.  People love to send me the “Welcome to Holland”  story – which can be wonderful and inspiring…except we never made it to Holland.  We’re stranded at the airport, still waiting for our destination.  I would kill to get to freaking Holland at this point.

Also, when your child doesn’t have an overall diagnosis, people become very…opinionated and  experts on diagnosing others.  There are those who ask you if you’ve checked out this or that rare syndrome – usually it’s something I have already researched.  If it’s done in a nice “hey, I want to help you out!” sort of way, I never mind.  Heck, I find myself in that position sometimes of saying “Have you checked this out.”

But other times, it’s “Well, are you SURE it’s not X?”  Yes…

“Positive?”  Pretty darn.

“Are you just AFRAID of an X diagnoses and are in denial?”

No.  Seriously.  I’ve been asked this.  It’s usually one particular diagnosis which is very much in the news these days.  When my husband was once confronted by this, and explained patiently that no, she didn’t have X, we tested for it, the tests came back normal, the person said “Well, how well do you trust your doctor?”

Um…more than you, complete stranger who’s never met our daughter.  (Which is not what he said, he was nicer about it.)

People who go down this route, grilling us over what they thing our daughter has,  don’t understand a very basic principal  – if you spend literally years looking for a diagnosis, you have read a lot of scary shit out there and you pray that’s not what your child has.  Meanwhile, stuff that makes the average parent quiver in fear?  That stuff is completely doable in your book.  Especially if it comes with treatment plans and other parents going through the same thing.  When Maura was first diagnosed with epilepsy, I went into overdrive and got all sorts of informative and proactive – because it was the first thing we could really do something about, inform people about, that people could go “Oh!  I’m familiar with that!”  The school was impressed with all the information and guides I handed them – I was just happy to be able to do something.

Imagine your child having a problem and having no idea how to fix it.  That is our reality.  We know she has “something”.  We know that “something” includes delays and seizures.  We don’t know how long she’ll keep progressing, or if she’ll develop other health problems.  There’s nothing telling us “Kids with X usually potty train by age 10” or “Children with X will never learn to do this.”  There’s no statistics, no support groups, no funding.  Heck, at one point, the state of Michigan didn’t consider Maura disabled.  Why?  Because she didn’t have a “qualifying diagnosis”.

So when people insist we must be in denial because we won’t look into what they think Maura has, it doesn’t show our reluctance, it shows their ignorance.  Because if they lived a year or two in our shoes, going along the best we can without a road map of our child’s future, they would never ever ever dare to say the word “denial” in our presence.

There is also another group that says “Well, why don’t you just get X diagnosis, then you can qualify for lots of stuff!”  My answer is – because it wouldn’t be true.  Why diagnose her with X if she actually has YZ?  Not to mention, some insurance companies, if you’re diagnosed with one thing, say “Okay, you’re done, no more searching!”  Why pigeon hole ourselves like that?

I will say, being on this side of things, I get to view things from another perspective.  Maura not having a diagnosis means that I see similarities between her and lots of other kids with different diagnoses.  In a way, my view is broader than others.  I don’t have a cause to support, so instead, I support all the causes.  I don’t see what makes my child different than yours – I see what makes your child similar to mine.  I don’t just want children with X-Thing to get therapies or insurance coverage.  I believe that any child who needs it should get those therapies.  I see how things that work with one group of kids can work for other kids with similar traits, even if they don’t have the “qualifying diagnosis” (a term I tend to twitch at.)  I tend to surprise other moms by knowing the syndrome or issue their child has.  I remember a friend, when we were still getting to know each other, saying how her daughter had selective mutism.  Instead of the blank stare and “Huh?” she was used to getting from other parents, I said “Oh yeah!  I’ve read about that!”  It’s almost like a party trick.  Not one I ever expected to have, mind you.  But that’s just how it is.

Just over a year ago, our last big thing before moving to Ireland was a trip to the Cleveland Clinic to see a specialist, in hopes that maybe this doctor could look at Maura and go “Oh!  I know!”  Within ten minutes of meeting with the doctor, I knew our journey was in vain.  I decided then that if none of the tests came back with answers, I was going to give up and start telling people Maura had Sherlock Syndrome – as in “it’s a mystery to us” and a play on our last name – and call it a night on trying to find out what her “something” was.  But then when we met with the neurologist here in Dublin for the first time, I could tell he was intrigued by her, and then he asked if he could take pictures of her to show his friend the geneticist.

And once again, I found myself getting hopeful.  And maybe…just maybe…if we do figure out what Maura has, or what’s causing Maura’s issues…and it doesn’t have a name…we could still call it Sherlock Syndrome.  I think I’ve earned the right to name it after all these years.

“…when you have eliminated the impossible, whatever remains, however improbable, must be the truth…”  – Sherlock Holmes, “The Sign of Four” by Sir Arthur Conan Doyle

 

 

Note – there is an organization out there, SWAN – Syndrome Without A Name – started in the U.K. with a branch in the U.S.    According to SWAN – “Although estimates vary enormously the most commonly quoted figure suggests that between 30% – 40%of special needs children do not have a specific diagnosis.”   

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30 Responses to “Sherlock Syndrome”

  1. Gail Jones February 4, 2012 at 7:44 am #

    OMG! This is exactly what I have dealt with, thought and went thru for 16 years & 8 months! Thats how long it took us to get a diagnosis for our daughter. And as I had mentioned before your Maura is just like my Abbie. When she was younger we tested for everything and they all came back normal. So we stopped for years. Then at 16 we tried again and thats when they found it. Its been a roller coaster thats for sure!

  2. Amy Silverstein February 4, 2012 at 7:58 am #

    I like “Sherlock Syndrome” 🙂 As parents, whether our child has a disability or not, we will never really know what is in their future. Sometimes having a label is not always great either, because then doctors will start tell you what your child cannot do due to their “label”. Of course I am sure it would answer questions, and I do hope you are able to find out one day. Meanwhile, you and your family are doing a great job! I really love reading your blogs.

  3. Jessica February 4, 2012 at 8:14 am #

    I’m an adult and I’m stuck in the diagnosis hunt at the moment. Lots of issues, no one can put it together into one specific diagnosis. A set of disorders has been diagnosed as a syndrome but now there are new things that doesn’t fit anywhere. I wish it would be in the category of not-dangerous but no one knows. With these new issues – mostly cognitive but VERY cognitive – it doesn’t fit in the puzzle. And I get all the questions, too. “They don’t know WHAT it is? Are you sure you are seeing the right doctor?”
    Well yeah, I am, just now we are handling symtoms, it’s what can be done. I’m content with that, I wish others would be as well.

  4. Jennifer Wright February 4, 2012 at 8:16 am #

    Bless your heart for sharing. My nephew is 3 and has developmental delays. My sister has been to geneticists, doctors, neurologists, hospitals, etc. with no diagnosis. He did get diagnosed with epilepsy about a year ago, but also has slow brain waves without them knowing why. I hope you get your answers soon. Meanwhile, I’m so glad you share your story for my sister and others out there.! Thank you for fighting for the kiddos as well.

  5. waynebradley February 4, 2012 at 8:39 am #

    We went through something similar and I remember all of those feelings on the part of my wife and I. In our case, the obvious medical condition went away. However, he was diagnosed with Asperger’s Syndrome just before he started college. He is doing well and adjusting better than we expected to both college and having Asperger’s Syndrome.

  6. Krista February 4, 2012 at 8:55 am #

    Been there, done that, got the diagnosis just as I was about to give up looking. Took my then 4 year old in for his last trip to the geneticist. I was done searching and decided If it were meant to be then the diagnosis would find us instead. We left that day and he called a few days later. I was gone so my husband talked to him then left the names of two syndromes on a Post-it note on the counter. Of course, he wasn’t home when I found the note but I had an idea why they were there. That was the most horrible next 5 minutes of my life looking those syndromes up on the Internet…the worse of the two fitting my son to a “T”. Eventually, NIH confirmed it, even though I did not need proof. I did not tell the therapists because I did not want to risk losing his approved therapies being that his delays were due to a syndrome. Oh, by the way….the day we visited that geneticist I was 7 weeks pregnant with my second child…who also has the same syndrome. :/ Yep, I’m still bitter!!!!!!!!!!

  7. Janice February 4, 2012 at 9:11 am #

    My daughter is 10 and I’ve travelled down that same road. Went to the Mayo clinic five times. I’m used to the questions. Sooner or later I guess you just have to let it go.

    I went through an intense self diagnosis faze and almost drove myself nuts. I’m glad to be over that at least. Thanks for the post!

  8. Mara February 4, 2012 at 9:54 am #

    I hope and pray you find an answer. I know how unsettling the “Great Unknown” can be at times.

  9. Tammi February 4, 2012 at 9:58 am #

    Thanks for your blog! I love it! Our daughter is now 14 – Beth has a couple of diagnosis’ but doesn’t totally fit them. At one point when she was 4 and doctor told us she had FLK – “funny looking kid”. My husband was about to punch him when the doctor left the room. The medical student was horribly embarrassed and apologized for him – she said it was a real medical term that only docs use and parents aren’t supposed to know about it – they use it for children who don’t have a diagnosis and you can tell by just looking at them that there is something wrong with them. She gave us the name of a wonderful pediatrician who gave us the best advice – as long as your child continues to progress the sky is the limit for how far she can go – we’ve gone with that and never looked back! And yes, her development is at a snails pace on a dry day too 🙂 But she did toilet train by age 9 – whoo hoo! Your family is in my prayers – I wish you all the best!

    • phoebz4 February 4, 2012 at 10:04 am #

      I had a pediatric psychologist once tell me that Maura “looked really syndromey” – it was a “WTH” kind of moment. I still want my $250 back from that appointment, lol!

      • Krista February 4, 2012 at 10:59 am #

        Oh yes, I clearly remember looking up the term “dysmorphic” after seein that on a couple of clinic notes regarding my son…just a medical term for “funny looking”!

      • Megan Luck February 6, 2012 at 12:06 am #

        She does not look syndromey, she is a beautiful little girl, that doctor was nuts. Wow, you definitely should have been been given your money back, that is horrid of the doctor to say such a thing.

  10. Sarah February 4, 2012 at 10:06 am #

    I’ve been somewhere in the neighborhood too…I am not a fan of pigeon-holing my daughter either and find myself often just saying she is quirky and marches to her own drummer.

    • phoebz4 February 4, 2012 at 10:07 am #

      I’ve joked Maura’s hanging out in the horn section going ‘Drums? What drums?’

  11. Linda McDermitt February 4, 2012 at 10:18 am #

    I understand your side very well. We do have a diagnosis for Sarah–she was 7 when we discovered she has Pallister-Killian Syndrome. YOU have probably come across this one, although it’s not terribly common. Her neurologist gave her a diagnosis of cerebral palsy initially, because the services issue came up. I am relieved to know what IT is, even though knowing it hasn’t altered our life dramatically in terms of therapy or treatments. Sarah is still simply sweet Sarah. I hope someday, you will discover your Sherlock Syndrome if only to bring you some kind of peace. I know either way you will simply love sweet Maura as you always have. Peace and love from Austin, Texas.

    • Kim April 11, 2012 at 10:06 pm #

      Linda- I know that this is sort of random…but I lost identical twin girls a year ago to complications from PKS ( at least that was the “unconfirmed diagnosis”). Anyway, I also live in Austin and always find myself “looking” for other families with children who have PKS….I think I just want to tell them how lucky they are to have their children:) See…I told you it was random:)

  12. Carissa February 4, 2012 at 11:31 am #

    I like Sherlock Syndrome for a name…very fitting….and I think all diagnosis have a bit of sherlock syndrome in them too….We have a diagnosis, but no one can really tell us what it means for our daughter’s future……

  13. darcys February 4, 2012 at 11:48 am #

    Thank you for your post today! I have been sleuthing for a diagnosis for my daughter for 12 years now! I find myself on 2 year cycles. For 2 years I can be perfectly happy not worrying about it and then some crazy bug or comment tips me off and I’m zooming her back to the genetics department to see if there are any “new ideas”!

  14. Joan February 4, 2012 at 12:00 pm #

    I have experienced the same types of appointments. Just so frustrating. One doctor said we probably never know. I guess I appreciate her honesty. Still i never give up. Someday, somewhere, someone is going to say “I have seen this before”. Until then, they have to deal with me

  15. Shea February 4, 2012 at 12:05 pm #

    As a former special education teacher (now a mom), I really love your outlook. When it comes down to it, it doesn’t matter what a child “has”. Our education plans are supposed to be individualized. Yes, I purposely said supposed to be because I know that too often they are not. We should be working with the child, not with the diagnosis. You may never find an answer, but as long as your daughter is getting appropriate therapies and such, you can call it anything you want!

    • Elizabeth Gagner February 5, 2012 at 9:37 am #

      Your comment, ” We should be working with the child, not with the diagnosis.” struck a chord with me. What is it about “individualized” that isn’t understood? No child is exactly the same in how they live with their “syndrome”. Though my son is now 22 and I am grateful to be out of the IEP forum it (the need for people to smack labels on him) just doesn’t seem to end.
      People need to embrace the individuality of others and try not to judge. I hope there are many more teachers out there with your wonderful attitude, we unfortunately haven’t met too many.
      Oh, and the “he’ll grow out of it” comment we tend to get a lot, is not helpful.
      Many blessings to you and all the open-hearted people who see the wonderful INDIVIDUAL instead of the label…our kids need you!

  16. Sharon Weidemann February 4, 2012 at 2:41 pm #

    I think that Sherlock Syndrome is a great name. When people ask exactly what that is tell them it’s easier if they Wiki it…would save you some frustration only it’s lying… We have the same challenges. Our daughter has FAS (fetal alcohol syndrome) and now idiopathic intestinal failure (our docs say its bc their idiots and can’t figure it out. None the less, our daughter will die bc the iv fluids that keep her alive will eventually fry her liver…. That being said, we live with a fair share of people who have ideas of all sorts on the cause and what we should do about it. I feel your pain even if it’s on a minor scale to what you live with. We have chosen that rather than worrying about the what is it, we choose to live enjoying each day we have and embracing the journey/character it has grown in us. You seem to doing the same:). Keep at it! Sharon

  17. LaNell Nelkin February 4, 2012 at 4:05 pm #

    Please keep us posted on what the doctor finds out.
    I am new to your blog, and have been living overseas with my family since August. We live in Ukraine.
    My son has a brain injury, which has caused hydrocephalus, (he has a VP Shunt) seizures, delays, and ESES. I was pretty scared to move because we hadn’t found a way to stop the ESES, and a lot of unknowns. The funny thing is that we found a doctor here that treats it and has even written literature focusing on the treatment of ESES. The doctors in the States have known less than our Ukrainian doctors!
    I bet that you have learned a lot from your daughter, and she is truly a gift from God. I know our son is for us, and am thankful that he is a part of our lives.

    I have enjoyed hearing about your life in Ireland. My husband and I are hoping to visit Ireland for our 15th anniversary. We’ll see.

  18. denverlori February 4, 2012 at 4:16 pm #

    My 2e guy falls into the NOS category (not otherwise specified). I always just say he is complicated. PDD-NOS, mood disorder-nos… right now knowing what works is more important than specific (or not otherwise specified) labels. Love your blog!

  19. Jessica February 5, 2012 at 4:53 am #

    I’ve heard one doctor say that a patient can have as many diagnosis he or she damn well pleases and any doctor will have to live with that! Medicine isn’t an exact science, after all, especially when it comes to neurological problems. Too little is yet known about the brain and its effects. I saw a neurologist recently, and it was the most refreshing visit I’ve had in a looong time. He said flat out that I don’t know but we could try this for a while. Gave some instructions, set up a new appointment within a few months. I WAS actually better at that time. The absence of any kind of irony or pretention from his part was sooo refreshing. He still doesn’t know but he was very supportive and listenened very actively. We all agree that something is amiss, but what?
    Despite the lack of answers, that doctors visit goes down as one of my best.

  20. Megan Luck February 5, 2012 at 11:51 pm #

    You definitely do deserve to give it a name of your choosing. Sherlock Syndrome sounds great. I think you are going about this the right way and all those other people have no right to say that you are in denial. Maybe you could get Sherlock Syndrome copyrighted since you named it? Sometimes it gets tiring chasing down clues to various syndromes and you just need to enjoy spending time with your daughter and not listening to all those silly people. She is wonderfully made and blessed with a wonderful family that love her and that is what really matters at the end of the day.

  21. Louise Kinross February 6, 2012 at 10:29 am #

    You may be interested in this piece we did about parenting a child with a disability but no diagnosis:

    http://www.hollandbloorview.ca/bloom/features.html

    Cheers, Louise

  22. Tracy February 6, 2012 at 4:52 pm #

    Thank you so much for writing such a beautiful blog! I work with adults who have developmental disabilities and so many of our clients (The proper word these days is “consumers” but that word really bothers me.) have multiple diagnoses or diagnoses that don’t quite fit into the box and I feel that alot of times, especially once a person has reached the age where they opt out of childhood educational and caregiving services, it doesn’t matter what their dianogsis is. It can help at times so the caregiver understands why the clients has difficulties but in the end, getting to know the individual is the best option. I hope you will continue to write about your family!

  23. LKD February 9, 2012 at 10:59 am #

    I just started reading you recently. I was born in the US, but I’ve lived in Scotland more than half my life (had to laugh at your post on the grading system, same thoughts I had when I started school here!)

    Anyway I LOVE your outlook. I have CP, but I also have a sense of humor. I hate to be cheesy, but thanks for sharing your family’s journey! Maura is a very groovy kid.

    I actually thought of you guys when I read a recent BBC article on SWAN UK.

    Here it is, if you want to have a read:

    http://www.bbc.co.uk/news/uk-england-stoke-staffordshire-16794862

    Lorna

  24. Josephine January 23, 2015 at 12:38 am #

    So many places on your blog where I would like to leave comments , long or short (like “sleep-deprived EEGs, that’s always fun!”).

    But this one I had to share here: when my grandson was about 18 mths to 2yrs, my daughter (his Mum) actually had a stranger in a shopping centre argue with her about his age! “Are you sure? My grandson is only blah, blah, blah, and he is much bigger than that.” ! and walk away not believing her.
    She also used to get lots of dirty looks as she (looking like a teenager when she was late 20’s) would be feeding ice-cream to her more-or-less ‘typical looking 6-9 month old’ five year old. [He has had some growth spurts since then and looks more ‘syndromey’].
    He has a diagnosis – an area of duplication on the X chromosome – the most well known about being the MecP2 gene, so we are “in” the MecP2/Rett world. But that is by no means his whole diagnosis. His first genetic test came back showing a duplication of 9 genes. Of course we looked them all up. For most of them something was already known about problems that they were linked to, and a number of them (aside from MecP2) were linked to mental retardation – but this was all in relation to mutations – nothing was really known about these other genes in relation to duplications. The things you learn – that were just never on your horizon. So really he was still an unknown.
    Later a more extensive genetic test came back showing that he actually had duplication of over 80 different genes!
    While MecP2 can be hereditary – his is de novo – new to him. Most of the boys are not small, none that we know of are tiny like he is, so presumably that comes from another gene.

    His early paediatrician did take an interest in him – in that for some reason he suspected MecP2 from the start. It sounded too absolutely horrific and we rejected it (we had our hearts set on CDLS – sound ridiculous, but I think you might understand). He was interested enough to persuade the hospital to order the expensive testing. It is useful to have a name, but it by no means covers everything about his medical situation – and I often find myself wanting to say “MecP2 duplication, and then some”.

    https://www.facebook.com/CjsFanClub

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