Friday, October 31, 2008

Happy Halloween from Darth Vader!

More cuteness may be posted tomorrow. This is the best we could get on the way to work/school.
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Thursday, October 30, 2008

I've linked from Internal Monologue

I've linked to here from my other blog, Internal Monologue (this is a copy of what's posted there):

Quinn has Fragile X

I haven't mentioned this on Internal Monologue yet, but it's time my readers know that my two year old son Quinn has fragile X syndrome, a currently incurable genetic condition that causes mental retardation, developmental delay, and low muscle tone. Much of my readership knows about this already, and we thank you for all your words and deeds of support and encouragement.

Sarah and I have a separate blog about it, Love and Survival with Fragile X. I'll be posting most of the fragile X-related material there, while Internal Monologue will continue to cover the subjects it has in the past. LSFX is a much more personal, emotional space for us, so I'll probably be keeping things separate there except for this post and the link in the sidebar.

Quinn continues to be a wonderful, happy, friendly, cute, and for the most part healthy little guy. We hope he has a community who will support and look out for him. We don't want his fragile X syndrome diagnosis to overwhelm his identity, or ours. But it is an enormous reality in all of our lives, and it's time I shared it with my readers. If you want to take a peek at the joys and sorrows, head on over.

Ugh: Ear infections, negative ear pressure, antibiotics

OK, here's a fun little sample of life with a fragile X child: One of the symptoms of Fragile X is low muscle tone. This has all kinds of implications: delayed motor skills, delayed vocalization (your voice is controlled by muscles, though it's not clear how much of the delay is due to cognitive deficits and how much is due to muscle tone issues), and more ear infections.

Why would low muscle tone cause more ear infections? Well, it turns out that the tube that connects your ear to your nose (so pressure can be equalized) is opened and closed by some very small muscles. Those muscles have the same low tone problem that other muscles do. So that passage isn't opened or closed as well as it ought to be, and that means it's easier for bacteria to get a foothold in there.

And more ear infections means more diarrhea. Why is that? Because the antibiotics prescribed to kill the bacteria that cause the ear infections also kill the ecosystem in the large intestine, causing diarrhea, diaper rash, crying, stress at his school, parental sleeplessness, relationship stress, etc.

Quinn just got back from the audiologist (another 3 hour chunk out of our workdays, this one taken valiantly by my wife), and after two ten-day courses of antibiotics, still has fluid in his ears and negative ear drum pressure. This means he probably needs tubes in is ears (small tubes that put a hole in his eardrum that allow the pressure to equalize and the fluid to drain). This will probably be a big relief to Quinn, because it should lessen his ear annoyance. Indeed, we've heard anecdotal evidence that this can improve sleep issues dramatically. But it means surgery, general anesthesia, a raft of bills, possibly a round of dealing with the insurance company, more missed work, etc.

Oh, and he has to go back to the audiologist in 3 months because they can't do their experiments when he has fluid in his ears. Add another 3 hours of daytime occupation to one of our calendars.

Is all parenting like this?

Tuesday, October 28, 2008

What's it like?

A friend with a typically-developing child asked me this the other day, and in a way, it's really hard to answer. Since Quinn is our only child, it's difficult to say how raising him would be different if he were a typically-developing kid. We have no basis for comparison. But my observations of other parents and their typically-developing kids suggest that in many ways it is similar but more. More appointments, more restrictions on what you can and cannot do, more stuff to worry about in the present and future, more work. Someone else recently asked me if we were planning on having a second kid (and she was clearly unaware what a minefield that question is for carriers of Fragile X), and I said that among the many reasons I wasn't sure about a second child is that it feels like we already have two. Here are some observations of our friends' typically developing kids that lead me to the more hypothesis.

1. We were at an adult dinner party at a friend's house. My out-of-town friend was there with her 18-month-old and had been staying in the friend/host's house for a couple of days prior to the party. The first thing I observed was that the host has a beautiful apartment, full of many breakable items, including floor-length paper lamps and a giant glass vase next to an un-baby-gated fireplace. Amazingly, even though the 18-month-old had been in the home several days, these items were untouched by the child, as were the many choking-hazard-sized foods on the coffee table. The parents did not spend the party chasing the child around, trying desperately to prevent accidents. The child seemed to have an understanding of what was and was not hers, and restricted her behavior accordingly. This was even more amazing when my friend told me it was way past the kid's bedtime, and the kid had jet lag.

2. I was bringing a meal to a friend who had just had a second baby. Her first baby is a few months older than Quinn. The mother had told me she wasn't sure how long I could visit for because her toddler needed a nap. I was at her home for about a half hour. During that time, the newborn slept in a sling without making a sound. Meanwhile, the toddler crawled up on the couch beside the mother, laid down, and fell asleep, also without making a sound. As I was leaving, the mother asked me if I would mind putting the toddler in her big girl bed, so she wouldn't need to lift the toddler while wearing the newborn. I said I would try, but expressed some trepidation about waking the child accidentally. I put the toddler in her big girl bed. She woke briefly, looked at me (a near stranger), smiled, and closed her eyes. The mother later called to thank me, and mentioned that the toddler kept sleeping for another two hours.

3. We were at a friend's child's second birthday party. Despite the allure of a steep staircase with no baby gate, lots of computer equipment, adult musical instruments, and glass beer bottles sitting on low tables, most of the children in attendance simply played with the toys strewn about the house.

4. We were at a party. Another couple was there with their 9-month-old. When it was time for the baby to sleep, they put her in a portable crib upstairs. We didn't hear a peep. The parents said they felt pretty confident it would be no problem to move the baby from the portable crib, put her in her carseat, and then put her to bed when they got home.

I know not all typically-developing children are as easygoing as the above-mentioned kids, and I know that even the above-mentioned kids have bad days. But these above-mentioned scenarios are about as likely in our house as a snowstorm in San Francisco. Here is how these events were or would have been different with Quinn:

1. For party number one, we hired a babysitter, and boy were we glad. Much cheaper than replacing all the beautiful things in my friend's apartment. And going out past 6 PM is a definite no no under any circumstance, unless we want to deal with a screaming, thrashing, red-faced baby. This has been the case since he was just a few weeks old.

2. Though it's getting better, up until a few weeks ago, taking a nap was a looong process involving up to an hour of crib gymnastics, babbling, and/or crying. We often give up on crib naps altogether and resort to stroller or car naps because Quinn gets so cranky, which of course makes us cranky. And moving Quinn once he's asleep is very risky. Until we started Quinn on melatonin about 1 month ago, this was also the case for night-time sleep as well.

3. I spent the party trying to keep Quinn from hurling himself down the staircase, playing with computer equipment and musical instruments, and spilling beer.

4. See numbers 1 and 2.

The other answer to the question about what it is like is to raise Quinn is that I really have no clue what typical development looks like, other than from parenting books I used to read. I am frequently blown away by the accomplishments of Quinn's peers. Until I see a friend's child do something, I don't know it is common or even possible for a toddler to do it. I have seen kids younger than Quinn sing at least some of the alphabet song, say many words in two or three languages, run, climb tall ladders, tell me they have a wet diaper, and engage in pretend play. Sometimes this makes me sad, but more often it just takes me by surprise.

Thursday, October 23, 2008

Good Stuff

Though I'm not terribly religious, I am a big believer in the "everything happens for a reason" hippie/new age-y school of thought. So here are some signs that tell me our experience of having a son with Fragile X syndrome is meant to be:
  • I've never been motivated by money, but I am very motivated by achievement, particularly scholarly achievement. It is a large part of what I thought made life meaningful and fulfilling. I feel confident that Quinn will have a very fulfilling and meaningful life, both in his subjective experience and in his impact on others, even though it is unlikely that his greatest achievements will be scholarly. Every day he is turning my worldview upside-down, and I think that is a very good thing.
  • I am a social work researcher who had never sat in a public social service waiting room before, had never been a client of a social service agency, had never had to fill out pages and pages of nonsensical social service forms before. Now I have, and that gives me a new perspective in my work. When I practiced social work, I imagined I was sympathetic and compassionate, and though I did my best to be, now I know I had no idea how my clients felt. I hope this will make me a better social work researcher and teacher.
  • I have already met so many wonderful, knowledgeable, dedicated, strong, wise people - early intervention therapists, teachers, doctors, other parents of kids with special needs - and we are just beginning this journey. My life is richer because of the people I have met through this experience.
  • It is sad to let go of the image of the child I thought I was going to have, but also liberating. I enjoy my little guy just as he is, and hope I will continue to do so. Like all parents, I have no other choice than to accept and love my son for who he is, but I think the process of accepting your children for who they really are may be accelerated for parents of children with special needs.

Saturday, October 18, 2008


So we're starting a little picture exchange communication system (PECS) with Quinn. I was a hesitant at first, thinking, "But he's gonna talk any day now, so why do we need that?" But it's become clear that: 1) It might be awhile before Quinn speaks; and 2) He has a lot to say, as evidenced by his numerous adorable requests for assistance by putting our hands on stuff. Today, for example, Quinn got Zac to open the car door, buckle Quinn in, and drive around the block - all by putting Zac's hands on what he wanted. (For the drive around the block part, he nudged Zac towards the front seat - Zac had been sitting in the back seat with Quinn - and Zac took that as an indication that Quinn wanted Zac to drive the car.) We wonder, did Quinn want to go just anywhere (like around the block) or did he have a specific destination in mind? We hope that as Quinn's PECS power increases, he'll be able to tell us lots of things. We can't wait to learn more about what he's thinking and wanting.

Some technical notes for others who might be curious about PECS: the pics shown above are just a few of the ones we made. Some of them are pictures we took, and some we found using google image search. We printed the pics on our home printer using picasa's handy "contact sheet" collage function. Then we glued the pics to corrugated cardboard and laminated them using no-heat-needed laminating sheets from Target. Finally, we stuck small pieces of velcro to the finished cards. Yup, it's a PITA. But we hope it will be worth it. We just didn't think Quinn would respond to the standard PECS.
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Thursday, October 16, 2008

In the spotlight

Today while trying to shop at the Farmer's Market, my son flipped out. He wanted to pick up, squish, and play with all of the expensive organic food. He's really into container play right now, and all those bins are just giant containers to take out and put in. Again and again. He was probably also tired and a bit overwhelmed by the crowd. My refusal to let him grab tomatoes, combined with his fatigue, was a powerful recipe for disaster. A mistake not to be repeated, for sure. He was hard to control, even in the stroller.

While trying to calm him and pay for our food, I got the bitchiest of looks from another woman, not a hint of compassion in it. She said, 'What's wrong with him?" I said, "He wants to grab all the food out of the bins and I won't let him." She continued her rude look and said, "There's something else wrong," implying with her tone of voice that I was a Bad Mother who did not know what her child needed. (And indeed, often I do not know what he needs, since he is non-verbal and does not even point, say, to his tummy or head to tell me that they hurt.) I blurted out, "He's special." She looked at me, like, "Yeah, right." Then I said, "No. Really. Special." This clearly made no impression. Then again, it was a vague communication. But it was the best I could come up with while paying for food, listening to my screaming child, at the end of a long day, while high on cold medicine.

Next time, I'll try to be prepared with one of Fraxa's nifty cards. I don't know why I should care what a stranger thinks, or feel the need to explain. Quinn and I have gotten curious looks before, but never an outright rude and judgmental one, and I'm surprised and saddened by how much it stung. I guess I'll just have to build up a thicker skin and carry around those cards.

Friday, October 10, 2008

Another wake-up

He's been crying for 40 minutes. Take the time of this post and do the math. And this is about the 2nd or 3rd wake-up tonight.

I can't lay in bed when he's crying. It's futile. So it's off to the computer. I guess now I have a place to vent.

This has been very hard for me. I find my emotional reaction to his crying is often not sympathetic, but hostile (especially at night). How dare he interrupt my sleep. He's obviously tired and needs to go to sleep, so why is he just moaning?

Sometimes I feel that something in me got wired wrong. That the neurons that were supposed to active the "love him and cuddle him and take care of him" centers in my brain instead got routed to the anger and resentment networks.

There's probably nothing wrong with my brain. It's probably set up so that the normal range of baby fussiness and inconvenience doesn't produce hostility. The problem is that he falls outside that normal range.

Thursday, October 9, 2008

A New Language

proprioceptive...sensory integration...motor planning...CGG Repeat...FMR1...MGlur5...
premutation...full mutation...methylation...FXS...FXTAS...FXPOI...carrier...
mosaicism...respite...weighted vest...chewie tubes...Ps and Qs...orthopedic inserts...crib tent...pronation... expressive...receptive...melatonin... folic acid...carnitine...MRI...eustachian tube dysfunction...negative pressure...karyotype...VABS...Bailey Scales...IDS... Peabody...strabismus...mitral valve prolapse...tongue lateralization...lip closure...macrocephaly...hypotonia...joint laxity...joint compression...vestibular

Wednesday, October 8, 2008

It Takes A Village

This maxim exists for a reason. It's true for any kid. Raising kids is hard, parents need help, and kids benefit from interacting with lots of loving people. But kids with special needs really do need a village, a fact I am finding both challenging and wonderful.

The main challenge is logistics, as noted in the prior post. Here's a rundown of our family's team, roughly in order of frequency of contact:

- Special needs integrated pre-school including multiple teachers and aides
- Speech therapist
- Occupational therapist
- Physical therapist
- Infant development therapist (who we sadly had our last meeting with today as she's retiring).
- Housecleaners
- Therapist for parents to help us deal with this diagnosis and all the baggage it comes with
- On-call nanny to care for our child when he can't go to the special school due to the common cold he will most likely have all winter
- Babysitter (she has a day job so can't be the on-call nanny)
- General pediatrician
- Developmental pediatrician
- Social worker
- Geneticist
- Fragile X specialist
- Neurologist

(As a fun aside, which will be the subject of another post - lots of these village members will be replaced by new ones when our son turns three because at that point the school district will be in charge of his care. So we'll have a whole new set of people to get to know.)

Logistics aside, this is a blessing. It has been humbling and freeing to be able to say that I really don't know, often, what to do with my son or how to help him. I have to hand my son over to the village. There's no other choice because we can't possibly do this alone. If you are not the parents of a child with special needs, you may think I am suffering from a lack of confidence or need to read more parenting books. Here are a couple of examples of things I couldn't teach my son:

1. To eat. Literally, to bite, chew, swallow. My son would not touch non-pureed food of any kind until we got a feeding therapist to teach him how to eat. We tried everything from organic scrumptious fruit to french fries to cake, and at best he wouldn't touch them, and at worst, if we tried to introduce the offending substance into his mouth, he would cry, gag, and vomit. Our feeding therapist got him to eat within a few months.

2. To play. I really wanted my child to play with this toy. He loved it whenever I pushed the popper around the room, but whenever I handed the stick to him, he just looked at it blankly. After months of popper demonstrations which delighted my son, but did not succeed in teaching him how to play with it, I told the infant development therapist what was happening. She explained that he had a motor planning problem, and could not easily envision his body moving through space the way that most people could. Thus his difficulty in mimicking us. She put his hand on the toy, then put her hand over his (a common technique I now know is called hand-over-hand), and pushed the popper. Within a few minutes, he was smiling and popping the popper on his own.

Something in our society makes parents, especially mothers, feel that they must know how to take care of their child, that they are the expert of the family. It seems accepted that a parent will take pride in this responsibility. Some of our providers are sensitive to this, and will say, "But of course you know what will work for your son," and though I appreciate the comment, I sometimes think, "No, I really don't." And that's okay. I'm very grateful to our village for all their support, patience, and guidance. Even if it is a logistical nightmare.

Tuesday, October 7, 2008

Love and Survival, Part II

Love: I'm not even sure it makes sense to try to describe how I love my son. I guess it's like the love most parents have for their children, but since I only have one, I have no basis for comparison. Our child is very special. Not just special needs special, but special in the totally pre-euphemistic sense of the word. His smile lights up his face, our faces, and the faces of everyone he's with. He gives great hugs and slobbery kiss-like things. He loves books. His awkwardness and delays are quite charming. He walks like a tiny Frankenstein and sleeps with his butt in the air. He has developed a habit of taking our hands, bringing us across a room if necessary, to ask for things in the only way he can - by putting our hands on what he wants - videos, outside play, blocks. I love being dragged about my home by this little authority figure in a puppy sweater. I love how he smells (usually), how he picks up his sippy cup so earnestly and drinks his milk like he is tasting the sweet nectar of life itself, and how he laughs at many, many things. Like velcro and the swiffer wet jet.

Then there's the love for my husband. My exhausted (see below) sweetheart, who dreams of hiding in a cave for a long, long time to play d&d wows me every day with his tender and funny interactions with our more-than-a-handful child. He gives me frequent backrubs and is patient with me as I bore him with the tedium and stress of our over-scheduled new life (see below).

Survival: We are tired, oh so tired, all the time. Our son doesn't sleep well. Though he makes progress every day in little ways, the milestones are a long time coming. We see everything coming for months, and sometimes years. Unlike many of my friends with typically-developing kids, we never just "wake up" to find that our child is doing a new feat. We are thinking of having a first word party, because already we've been waiting about 1 year longer than most parents do. We might even have a bye-bye party, because he doesn't wave bye-bye either. Though there are benefits to this slower development (we still don't have to run to catch our toddler; he just doesn't move that fast and he has little interest in leaving the stroller when we're out), the downside is that we put in a lot of effort, and our rewards come less often and less dramatically. He has 4 therapy appointments per week, not including any extra appointments, like our upcoming visit to the M.I.N.D. Institute, regional center service review meetings, dentist appointments, regular doctor check-ups and sick visits. The therapies could be an entry unto themselves, but for now let's just say they are wonderful and our therapists are all incredible, dedicated, knowledgeable people BUT...we end up with a lot more on our to-do lists beyond the actual time spent in session. There is homework, and sometimes special supplies are needed. So, we don't just play with our child; we know we should play the right way. Here's what I got in the mail yesterday: a bill from a medical provider related to his care, a form to fill out related to his care, and a letter thanking me for my donation to FRAXA. There's also email and phone calls related to all of the above scheduling, doing, early intervening. I have honestly thought of hiring a personal assistant to help us with the logistics of it all.

No Yale, No Vassar, No grandkids

When it was first suggested that we test our son for Fragile X, my first thought was, "Do you really think he has big ears?" It was a small, silly thought, but it captured my perspective at the time, which was that I just didn't think my kid was that special. But he is.

When I got the call from our geneticist, it was a lot like all the cliche stories you read about something awful happening to someone. Everything stopped. I don't remember what the doctor and I discussed, except for that one fact. I got off the phone as quickly as I could, because I don't like to blubber in front of strangers or bosses or random acquaintances. (But it does happen sometimes, and since getting this diagnosis, it has happened a lot more.) I put on a video for my son, who I think had never seen me cry before. And then I just sat down and cried until my husband came home from work, about 30 minutes later, though it felt like an eternity.

The next few months were kind of a blur. We did what had to be done. We told our families and close friends. We kept going to work. We tried to act okay. We saved our blubbering for our meetings with a therapist who specializes in talking to parents of kids with special needs.

We are slowly, slowly, slowly coming back to something like normal, but this new normal will never be like our old normal. No professional has ever said that our son can't go to Vassar or have kids. But unless a cure is found - and that is a distinct possibility in our son's lifetime - the best case scenario involves some type of supported living situation and supported employment. Occasionally we read articles in which this scenario is painted rather rosily, but come on now. Even if you don't expect Yale or grandkids, no parent of a young child is thinking, "Gee! Someday maybe my kid can have a below-minimum-wage job and live in a group home!"

There are other rotten aspects to this particular diagnosis. Since it's genetic, and I'm a carrier of it with a relatively high repeat number, there's approximately a 50% chance that any future kids will have Fragile X Syndrome, too. And the decision has to be made fast, because I'm at risk for experiencing early menopause. There's also the issue that my father, a carrier too, is at risk of developing a tremor and dementia disorder, and just the general fact that he feels sad about having unknowingly passed this on. All of this in one phone call. Welcome to Fragile X.

Sunday, October 5, 2008

Prenatal genetic testing

I didn't do it and I'd make the same decision again, even knowing what I know now. If the doctor had told me, "Well, mom-to-be, you're about to have a two-headed, fire-breathing dragon," I would have said, "Then I guess we'll be adding fire extinguishers to the baby registry."

Who am I to decide what constitutes a worthy life or an excess of parental suffering? And where do we draw the line as a society? What if there were genetic tests to find out if your child would be obese, depressed, unkind, or just totally uninterested in attending your alma mater and reading The New Yorker? What is an acceptable reason to terminate a pregnancy? These "private" decisions have social consequences. And one such decision is the decision not to have a retarded child.

I want to live in a world that's welcoming to people of all kinds, and I felt when I was pregnant, as I do now, that the personal decisions we make help to create our world. It is okay to be different. Really different. Admittedly much harder than I thought it would be, but ultimately okay.

In addition to my ethical concerns about where society draws the line about worthiness of life, I also just didn't want to be in the position to have to make such a decision. So I refused the tests for Fragile X and Down Syndrome and other genetic abnormalities. Maybe a part of my subconscious already knew that my kid was special.

My only regret about not having the testing was that we spent about a year spinning our wheels trying to figure out why our child was so delayed, and it might have been nice to avoid the doctor visits, the insurance co-pays, the missed work, and the anxiety. On the other hand, for the first few months of my son's life, I felt like a "normal" parent for awhile. I wonder if an earlier diagnosis would have interfered with bonding and attachment. We didn't learn of his diagnosis until he was almost two years old, and I'm grateful for the time we had to get to know one another before the label.

I do worry that my child will suffer when he is older because he is different, and that troubles me ethically as well, knowing that perhaps I could have prevented that suffering. But then again, I also would have prevented the joy he brings to our lives, and the joy he clearly experiences as he learns about the world.