Sep 21 2008

Blogging for Kids with Diabilities, the solo version

Posted by Lisa in Uncategorized

Three years ago, seven other parents/bloggers and I banded together for a Blogging For Kids With Disabilities Day (my participation: part I, II, and III). Since then I’ve considered education (not only Emma’s, but everyone who encounters Emma, and anyone else who will listen) part of my job as a parent. Invisible disabilities are difficult to manage for both the parents and the child – but also for strangers, as these disabilities are lacking the social visual cues that allow people to avoid being assholes around kids in wheelchairs (should they so choose), for example. And the stigma of mental health disabilities, not to mention the preponderance of misconceptions, misinformation, and outright lies, means many who have diagnoses won’t get treatment and many who need diagnoses will be afraid to ask for evaluation. Adults and children alike. Many other adults who have their children evaluated, themselves discover their own personal histories beg for evaluation. A good friend of mine, a professor at a large east coast university, was diagnosed after his son had been – so much of his life made sense after that diagnosis.

This past week was ADHD Awareness Week. And so – I blog.

First: I don’t care what you “believe”. This is a medical diagnosis, not an effing religious principle. If you can’t manage to get your head around that then you might as well stop reading. Really. Stop now — nothing I say will stop you from giving these kids and their parents shitty looks, so save us all the trouble, ok?

Second: Last year I covered many popular myths about ADHD, and it might be a good place to start, if you’re still reading and don’t know much about ADHD or its history.

This year my post is a little different, but no less necessary.

My daughter, Emma, was born on December 26, 1996 — it was one of the happiest days of my life.

Emma has continued to bring happiness to my life, but it was also clear from a very young age that Emma was different from other children. The differences were subtle, however, and often dismissed by people who didn’t spend as much time around her as I did. Whatever deep-seated impulse leads parents to believe everything about their child is perfect, I discovered (in my case, at least), it is easily overpowered by the gut instinct that Something Is Not Right and the drive to get help, no matter how many mountains I had to shout from.

She displayed cognitive… oddities. Things that boggled me – in addition to exhibiting delayed speech skills (requiring special assistance, which I was able to eventually have tested for and arranged) she clearly had processing issues, for lack of a clearer description. I could see it on her face – she wasn’t following speech, at least not following it the way I could see other children following it. It was also clear to me her near-manic activity level was Not Normal. She was diagnosed with Attention Deficit and Hyperactivity Disorder half-way through kindergarten (I had talked to her teacher up front about my suspicions and asked for her professional feedback – once she said ‘yeah, you might want to get her looked at’, it was a go). The first time she saw a psychologist she spent the hour gathering toys and then methodically moving them from corner to corner in the psychologist’s office. En masse. Over and over and over. He showed me a chart, showed me the normal range on the chart. He took his pencil and pointed to the spot Emma had tested at (based on myself and the teacher answering literally hundreds of questions). The pencil point sat on the table about two inches from the edge of the chart.

I moved to begin treatment immediately – so much time, learning time, she’d already lost. I had to repeatedly request to get the school psychologist to meet with me, and I arranged for an IEP (indivualized educational plan). I eventually fought to have her repeat 1st grade because I didn’t think she had enough time with the foundational material to continue on to 2nd grade, and she surely would have been utterly lost from that point on. And I wasn’t going to allow that to happen.

Our first med was initially helpful for the hyperactivity, but not for the attention issues. Eventually it was clear that, in addition to its shortcomings in controlling the symptoms enough for her to do what she wanted and needed to do, it was adversely affecting her mood. She was growing more and more erratic and aggressive, flying into frequent rages (and she had been, other than her exquisite frustration when she just wanted to make it through an activity and couldn’t, a happy child). That was the beginning of near-daily doses of verbal abuse for me – I’m her main emotional support [so I’m safe – she knows I’ll not leave], I’m the setter of limits, so I’m her main target for frustration and ire). The problem with stimulant medication, however, is that it almost always results in weight loss – and our very little girl was already just at the 5th percentile on the growth chart – so she fell off, and we would struggle to get her to eat for many years. It’s scary having an underweight child – one bout of the flu would have us in the hospital having her re-hydrated via IV because there was simply no stores to draw from.

We tried a second, which was a vast improvement. It was, however, difficult to manage – she metabolizes medication at twice the normal speed. This means a 4-hour med lasts no longer than 2 hours. An 8-hour ‘all-day’ med lasts til lunch. It also means that fever control for her is an Olympic sport – I have to go back and forth between Tylenol and Advil. And I have to make sure the fever doesn’t start to go up or I have to switch from oral medication to a suppository – she projectile vomits when her fever spikes (while this is difficult and upsetting, I will express intense relief that I have been dealing with vomiting and not febrile seizures – they’re frightening). I spent many, many hours holding a weak, endlessly retching child on my chest, swaddled in cold, wet towels, trying to get her temp down enough to give her Tylenol in the hopes that it would stay down (and then doing it again when it wore off before I could safely give her more – it was an emergency room visit that got me information about Feverall suppositories, over-the-counter gems that they are).

So the number of mg per day she had to take, orally, was frightening. I have never happy-danced quite like I did the day Daytrana patches finally made it through clinical testing and hit the market: same stimulant as she had been taking, but absorbed through the skin so she couldn’t power through it.

Still, for all it did (handling most of the hyperactivity, and helping somewhat with the attention) it didn’t handle some other behavioral issues popping up and growing more troublesome, nor the other cognitive issues. Emma appears to have a very limited concept of self and theory of mind. Her ability to appropriately empathize and infer intentionality in others is extremely limited. Although she is friendly and chatty she also tends to irrationally single out certain individuals for enmity. Disruptions in her schedule are major — some of the worst times we have are when she has a substitute teacher. She obsesses and fixates on things like tornadoes and hurricanes and spiders and alternately worries about them and/or wishes she could see one.

On the recommendation of her pediatrician she was tested for Fragile X, but that was negative. After seeing a new pediatrician last fall, after her other passed away, we had comprehensive genetic testing (and a full battery of neuro-psychological testing) done. The neuro-psych testing got us another set of initials – PDD (pervasive developmental disorder) and confirmation that her IQ is not in normal range – but it’s also not as low as what had been termed ‘retarded’ and so we’re caught between functional and clearly disabled, not knowing what I can ask for and arrange for her). The results of the genetic testing were…well, they were the classic good news/bad news situation.

The good news was that I wasn’t nuts — Emma was diagnosed with partial trisomy of 16 p. As the letter from the geneticist put it, “Chromosome high definition of oligonucleotide array revealed a small duplication of chromosome 16p.” The CGH showed “gain of four clones at 16p13.3: RP11-243K18, RP11-334D3, RP11-358F6, CTD-2608C14.

The bad news is that CGH testing is very new, and Emma may be the first child ever diagnosed with this specific set of chromosome 16p duplications. As the geneticist put it, “Given the relatively new nature of this testing, we were unable to find reports of children with the same size duplication as Emma.” There are certainly other children with 16p duplications, but they tend to have much larger duplicated material and also tend to suffer much more pronounced physical and cognitive problems. So, she’s her own case study. And she can’t be ‘fixed’ – that’s always the hope, that whatever is wrong can be corrected. No. Never. And it’s likely the result of just a random mutation (not that this keeps me from continuing to blame myself, but sometimes, in the middle of the night, I need to blame someone…)

So the result is both something and nothing. Nothing has changed, but having it on paper has allowed me to have the school system switch her from SLD (specialized learning disability) to OHI (other health impairment) and this has opened up a bit more in the way of services for her. Working with the pediatrician we’ve cut back on the stimulant and added Risperdal (an anti-schizophrenia medication), which helps to control many of her ‘initials’ (the OCD [obsessive-compulsive disorder] and ODD [oppositional defiant disorder], specifically) that have contributed so heavily to her attention issues. Also, it encourages eating, so that helps balance the affects of the stimulant medication (so she puts food in her body, feeding the brain, and she’s managed to get back on the growth chart – and has enough fat on her body, now, to have begun puberty.)

Yes, puberty. And puberty is as effing scary for me as it gets. The pediatrician has given me the information that he gives to all of his parents of ‘impaired girls’ – once her menses have begun and are regular he will, if we wish, refer us to a gynecologist to arrange for long-term birth control. Because she’s impaired. And because she’s impaired, she’s at very high risk of having Very Bad Things happen to her — and because those Very Bad Things are bad enough without a pregnancy as a result (particularly, in her case, since she’d be very likely to pass on her trisomy – and the one thing she’s always stated wanting to be, when she grew up, is a mom…this is not a discussion with her I’m looking forward to having).

Because I can’t protect her all the time. I tell you, honestly — I gave birth twice without epidural, I’ve been burnt, I’ve had a terrible back injury that required surgery – and there is no greater pain I have experienced than that moment, listening to the doctor… imagining all of those Very Bad Things. I was certain, certain, my heart had stopped.

So… each day is a new one, and who knows what it brings. Who knows what her IQ will ultimately be, whether she’ll ever be able to even partly catch up to her neuro-typical peers and consider college or a trade, whether she’ll be able to live independently as an adult. We just don’t know – and that’s what keeps me up at night.

I write this, not because I want you to think anything special or different about me (because I’ve just been doing my job), but when you see and talk to that kid next door, at the grocery store, or in your kid’s class who clearly has something going on (whether it’s ADHD, autism, Asperger’s syndrome, or a myriad of other possibilities)… think about Emma. Treat them with kindness. Look at the parents with compassion – however stressed, however obviously overwhelmed they appear at that moment, they are doing the best they can. Believe me – if there were some way to make Emma’s chromosomes normal, if I had to step in front of a speeding bus to guarantee her a real stab at a normal life I would, in a heartbeat. So would these other parents. Accuse them, us, of a lot of things, but never accuse them of not trying their gods-damned best.

And that’s the end of this bully pulpit session.

5 Responses to “Blogging for Kids with Diabilities, the solo version”

  1. Paulita Says:

    Elisabeth – I had no idea you were going through all this with Emma. My thoughts are with you both. Hugs, Paulita

  2. Kathy Says:

    Hey Lisa,

    I’m sorry Emma has had so many difficulties, we have had our share too with Emily’s prematurity (We will finally get the MRI scan of her brain on Thursday so they can diagnose CP – It only took almost 6 years.) and Mallory’s breathing issues (Pneumonia 6 times, RSV twice, and reactive airway disease (the precursor to childhood asthma, which I am soooo looking forward to). However, the person that has been getting the most attention is me, for my disabilities. I have 5 mental health diagnoses, and despite my education and experience, I can no longer teach or be a school counselor, because my doctors won’t allow me. I have just started blogging about it this past fall, and I’m getting a chance to be an advocate for myself and others with severe MI. Anyway, good for you for all your advocating. If I remember correctly, you can be a ferocious mama-bear! Email me when you get a chance, we’ll have coffee (at our own computers) and chat. 🙂 Hopefully it will be soon! *hugs* Kathy

  3. andrea Says:

    Hi Elisabeth,

    I found your blog by googling partial trisomy 16p. My daughter who is 5 also has PDD NOS and partial trisomy 16p 12.1-12.2. She is adopted so we are searching for any information about partial trisomy 16p. Thanks for your blog and information. Your daughter sounds so similar to mine

  4. Elisabeth Carnell Says:

    I’m glad you found me, Andrea! I hope you are able to find more information over time (I’m still looking, too), and best wishes to you both. -E

  5. The View From Kalamazoo » Blog Archive » Blogging for Kids with Disabilities Says:

    […] Parenting children with disabilities is challenging on a number of levels. In the case of my family, the disabilities are (initially) invisible–mental, emotional–but no less present. I addressed some of those challenges (and the specifics of our situation) last year. […]

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