What About the Boy?

A Father's Pledge to His Disabled Son

by Stephen Gallup

The Book

Once I started reading I could hardly put it down. Ann Beattie.

– Ann Beattie

... more

The Blog

Hello and welcome! This is the second website I've launched that was motivated by the campaign to help my son Joseph overcome his disability. The first, kidsbright.org, was active for about four years beginning in 1999. Portions of it are still in Net archives and may in due course be incorporated into this one. However, that site existed to share information that I'd found to be important when dealing with developmental disability, whereas this one is primarily the home of my memoir.

Parenting is a gamble

3kids

A journalist recently interviewed random local teenagers to learn a little about their lives and ambitions. The result doesn’t contain any particular surprises. Regarding the future, one gal hasn’t decided yet whether she’ll be a surgeon or a photographer for National Geographic. Another expects to play pro soccer. I like the outlier who acknowledges a possible destiny in which she’ll live “in a super crappy neighborhood and work somewhere like Target.” Regarding current reality and the usual land mines threatening their age group, one smiles and says, “We have the tendency to make bad decisions.” The article goes into some detail on those decisions if you’re curious.

None of that is surprising, as I said. But being the father of a teenager, I ended up checking this against the daughter’s perspective. I mean, HER buddies aren’t dropping acid at school, are they? She pointed out that things are probably a wee bit different for the neighborhood we inhabit and the school she attends.

Let’s hope so. Song Yi’s insistence on moving to this suburb a decade ago was based on the ambition of benefiting from a high-end school district and association with children of overachievers, presumably to compensate for the fact that our own achievements are modest. In other words, it was an investment in the kids. I’ve written about that previously (for the same newspaper).

I do think that, thus far, our daughter has been at least partially sheltered from the worst hazards. Our little guy appears to be in a very good place as well.

So, on days when life feels a bit overwhelming, when all I see is a series of hoops to jump through, offering no reward beyond simple maintenance, I remember to be grateful. The kids are doing well, the younger two at least. That means so much to me. I’ll write more about Joseph next time.

It’s all about the kids now. For most of us, there comes a point in life when more personal longings begin to lose urgency. Instead, we think increasingly about the next generation. I see this occurring in my friends as well as myself, and realize I’ve seen it in older people all the way back.

This is the point at which any value in our accumulation of experiences and life lessons lies in whether it can empower young folks. Sure, given more bandwidth I’d still gladly apply resources to doing something for myself. However, in weighing the potential effects on my own life versus younger lives, the younger lives win out every time.

You might say I’m neglecting my own prospects in order to boost those of the next generation. Even my daughter would call that sad. A friend close enough to speak frankly might call it a denial of the reality of my own needs in favor of a gamble. To that I would say this is my conception of parenting. It is a gamble, every step of the way.

By definition, then, the outcome is uncertain. Peace of mind requires flexibility, sometimes a huge amount of it. Never mind lofty goals like becoming a surgeon, sometimes it’s too much to ask even to be able to have a conversation with your kid, or see him. For me, peace of mind comes in doing what I can.

I hope it’s understood that the goal is not to raise little hothouse orchids. They’re going to have to find their way in the real world. Even in best-case scenarios, assuming I jump through every parenting hoop flawlessly and they dodge all known land mines, they’ll encounter unforeseen trouble soon enough.

But I recall something my dad used to say, when I was little: If I don’t spoil him, who will? The process of getting young people ready for what lies ahead amounts to a nice, long metaphorical hug, maintained for as long as you decently can.

Free Tianze

Tianze

Last year this blog hosted some poetry authored by Tianze, an autistic teenager living in Scotland. I’ve never met him or his parents F2F, but for over ten years have corresponded with his mother Nina. I believe her to be a sweet, caring soul.

Their family is going through some bad times right now.

Developmental disabilities affect kids in various ways. As Tianze has grown older, he has at times been unable to control his emotions and has been destructive.

I guess nobody has an explanation.

But I know it’s not unreasonable to look for explanations.

I subscribe to a daily email list where parents of disabled kids share what they are learning. (In fact, I’ve been getting that kind of info for as long as I’ve had email, going back to the mid-90s.) Before there was email, I got information via other channels, and my memoir shows that answers can indeed sometimes be found.

Currently, a lot of people in those emails happen to be discussing how to deal with symptoms like Tianze’s. It is understood that the cause exists on a cellular/biochemical level. And there’s general agreement that finding the right treatment for any given kid involves trial and error—ranging from diet supplementation (e.g., “people have a higher demand for folate from ages 12 to 20″) all the way up to prescription meds. Whatever the magic combination may be, some people do discover it, and post reports such as, “he’s gone from a holy terror to the sweetest, most consistent boy imaginable.”

I would like to suggest that incarcerating a disabled kid, against his will and his family’s will, is likely to do more harm than good. It strikes me as an ignorant response, even in the context of the ignorance we all share.

Now, I understand the motive of wanting to protect someone from himself, or maybe temporarily offering someone a change of scenery. But for five months Tianze has been kept in a medical facility far from his home. Originally, the stay was only for “assessment.” Somehow, it appears to have become indefinite.

He doesn’t want to be there.

His parents don’t want him there.

Nina recently started an online petition: Bring my autistic son, Tianze, back home to Scotland. I hope you will sign it.

Because what she has written below gives a pretty clear idea of how this hospital stay is working out.

I mention above the role trial and error plays in finding answers. That means if an intervention is clearly not working, there’s no justification for persisting in it.

My son like a lion locked in the cage outbursts suddenly: “It is too long in this ward”

I’m again heartbroken visit today.

When I met Tianze, I saw his hair is too long nearly cover his eyes again. I knew I had lots of chase in last time regarding haircut issue, finally the hospital done it. But now it is too long again. We brought lots of Tianze’s favourite toys to him, especially his black toy dog. He holds it and kisses the dog and feel happy about all the toys we brought to him. I knew he had bad week because of missing home, I checked his arms which are full of bite marks. But before hospital, there are no bite marks on his arms. He can be agitated at home, but he is still a happy boy at home.

When our visiting time carried on about 5-7 minutes, Tianze started outburst suddenly, He looked like a lion locked in a cage and suddenly screamed: “It is too long here in this ward.” Then Tianze just started to bite his arm. He pulled the curtain down. He was pulled away by staff back to his ward immediately. We just had this 5-10 minutes visiting time.

I’m heart broke now. . .
Tianze—My poor boy . . .
Mum knows you need home,
You need Mum’s love,
You need Dad’s love. . .
I need my child back home ASAP.
My son suffering, We are suffering. . .

Tianze—My dear son,
Mum knows you have your rights to go to parks,
like all other children
Mum knows
You have your rights to back home,
Like all other children.
You should have your freedom,
You shouldn’t be locked here such long time,
Drugs can’t solve everything,
You need Mum’s love. . .
You are Mum’s baby forever.

Tianze—My dear Son,
You had relatively calm time in hospital,
You waked up every early morning to
just count how many days left in hospital. . .
You sing back home song daily to mum. . .
But now you may lose hope,
you can’t wait,
What you can do now is just
hurt yourself and hurt yourself. . .

Tianze—My dear son,
Mum is helping you out of hospital now,
please stay calm and calm
Please wait Mum and wait Mum. . .
My son, Mum will let you back home,
That is your home,
that is our happy home. . .
Nobody should deprive it. . .
We live in modern society. . .
We live in a civilized country. . .

Tianze—My dear son,
Mum knew you are autism,
you can’t understand lots. . .
You can’t wait any more
even a normal child will be frustrated if locked in without family love. . .
But please can you wait mum,
Mum will save you from this prison. . .
Mum will try best to save you

Blog Hop!

Juliet O'Callaghan

Every year in December I post an item about the most provocative books read over the prior twelve months. I’m already narrowing down candidates for the next list. As much as possible, I like to highlight authors who are new, independently published, or little-known. But doing that doesn’t address any great writing I might be aware of that’s not yet published. Which happens to be the writing most in need of encouragement.

Almost six years ago now I participated for a while on authonomy, a website where aspiring authors critiqued one another’s work. Most writers there were quite good, and some, I thought, were extraordinary. Those with whom I connected all went on to see their work published, with one exception.

Juliet O’Callaghan had a breathtaking novel about a young woman dying of cancer and a well-meaning husband with conflicting loyalties. In my view, the story was ready for prime time in early 2009. Since then, various gatekeepers have blocked its progress. Juliet continues to rework the material, because it’s very close to her heart. Please read the excerpts she’s sharing online and offer some encouragement.

Juliet has invited me to participate in a blog hop, which as I understand it involves answering the question below and giving a nod to her and other participants, who appear to be very much involved in bringing deserving writers to the world’s attention.

SPECIFICALLY, Katie O’Rourke, author of A Long Thaw

AND Anne Goodwin, who maintains a particularly inviting web presence at Annecdotal

AND Juli Townsend, author of Absent Children

These folks are new to me, but I’m delighted to be learning about them and their works (which may well end up on my December list).

BLOG HOP QUESTION:

Why are you working on the project you are writing now? Why is it important? (to you, or to the world, or…)

Every month or so, when the spirit moves me I dash off a short story or poem, and if reasonably satisfied with the result I upload it to readwave. (That site doesn’t compare with the authonomy I remember in terms of helpful peer reviews, but it’s a convenient place to store work.) In itself, meeting readwave’s word count limitations is a worthy exercise.

However, the big project for me now is providing support for production of the movie version of What About the Boy? A couple weeks ago I met with Joel Franco, the producer who has the screenplay, and we talked about the issues of budget and getting the right actors to commit. Progress to date has been slow, but I have the sense that WATB is moving toward Joel’s front burner. He has asked me to contribute supporting material that he will likely be using in the near future.

This is the third anniversary of WATB’s publication. The writing was cathartic, but the work remains important to me because I think it offers perspective for others fighting uphill battles. As Juliet knows, you just can’t let go of some stories.

And that is my first foray into blog hopping. Hope I got it right!

What is the question that you have pondered longest in your life?

The following is a response I entered to the above question on Quora.com.

For about half my life now I have wanted more than anything else to help my son, who was born with a poorly understood developmental disability. I have never accepted the notion that he was somehow “meant” to lead a circumscribed life or that anyone could be ennobled by that.

Boy_shadow

At first, I was appalled to discover that not only could the doctors not help him but they showed little or no curiosity even in whatever it was that had gone wrong. (First unpleasant lesson (relearned many times since then): Trusted experts and authority figures will let you down.)

Later, I found alternative sources of help that, when coupled with enormous effort on the part of our highly motivated family, did provide the little fellow some options in life. But ultimately those resources proved disappointing as well. (Second unpleasant lesson: Don’t expect life to follow the trajectory of an uplifting movie. Uplifting scenes, yes, but nothing approaching feature length.)

I had been taught, and believed, messages such as this one: “Ask and it will be given to you; seek and you will find; knock and the door will be opened to you” (Luke 11.9). My son’s mother and I asked, in every way we knew how to ask. We sought and we knocked. And while we were doing that, our son lost ground. To top things off his mother died, too.

Now, all this is not entirely a tale of woe, because good things have happened along the way as well, arguably even as a result of my son’s disability. But according to my own perspective, promised blessings have not materialized, which points to some very fundamental misunderstanding.

I am still trying to grasp the meaning of hardship and disappointment. In itself that’s a captivating quest. But answers are elusive and many people presuming to provide them do more harm than good.

WATB_MoA

What about the boy (WATB)? 29 years on, I am also still trying to understand the underlying cause of my son’s problem, motivated by the idea that it might then become feasible to treat it more effectively. This year it looked like an answer was at hand, but that now appears to have been a false lead. I blog about these dead ends, but that accomplishes nothing for him.

I have seen this cause — helping my son and ideally in the process making the way a little smoother for others in comparable

What About the Boy?

situations — as the purpose of my life. It’s a cause I’ve not been able to ignore. But given the degree of ongoing frustration attached to it, I feel more confusion than it seems I ought to at this stage.

Maybe confusion is good. I sensed rather early on that an easy answer to all this would have resulted in my becoming opinionated and insufferable (as, apparently, are some folks who think their having achieved greater success means others are at fault for not doing likewise).

So I personally can live with confusion. But WATB?

On trying, and on the odds of success

gravitational force

A great many years ago, when I was studying physics as an undergraduate, and also coaxing a girlfriend to come visit for the weekend (honesty compels me to admit that she wasn’t really a girlfriend but rather was a girl I hoped—unreasonably, as it turns out—to win over as a girlfriend), I calculated the approximate gravitational attraction between her body and mine, first with her at her own campus a couple hundred miles away and then at the blessed moment when we would be in close proximity to each other.

Schoolwork compelled me to do such calculations anyway. This exercise was simply an effort to make the practice relevant.

According to my figures, the second value was somewhat greater than the first. That is, the force of attraction between us did increase a bit when we were together, but not so much that you’d notice. I mean the numbers were infinitesimally small.

Calculations really weren’t necessary to arrive at that conclusion. The girl did come to visit, but only I think to confirm that the suspicions she already held about me were correct. Despite rudimentary stirrings of romanticism, I was a tedious geek.

That old misadventure came to mind today, prompted by a silly poem addressed to an insignificant grain of sand (… Is this the life that you had planned? That there’d be jillions just like you? …). It started me thinking about numbers outside normal experience (the size of a grain of sand, the number of such grains in the world, etc.) and from there (inevitably) back toward a subject closer to my heart, the combinational possibilities in mixing and matching genetic information from one generation to the next and specifically how in the blazes my son Joseph ended up with a developmental disability that even now remains unexplained.

When Joseph was a baby, a neurologist told me to accept his condition because, as he put it, “it just happened.” I hated the ease with which a man of science could so easily shrug off a young patient as a victim of random chance, without even attempting to understand, much less treat, the problem. So I rejected what he said. In those days, Judy and I thought it was likely a case of birth trauma—brain injury perhaps due to prolonged labor and vacuum delivery. We were embarking on a years-long home campaign to help him overcome that injury, and of course knowing what we were up against could have affected the choices we made, and our chances of success.

Not that those chances were defined any more accurately than the problem itself. Geeks presume that expressing something in numbers is a way of enhancing control over whether we’ll get the outcome we want, be it a new girlfriend or a healthy child. In this case, however, there was no handy formula for quantifying those odds.

Over time it became apparent that they must have been very long odds–maybe one in whatever number of universes would be required, based on random chance, for this one to turn out as it has. And I might as well confess to having no better grasp of figures like that than anybody else. (I was always impressed with the image of a hundred bottles of beer on the wall.)

But I suspect that really knowing what such numbers mean would result in inaction, and absolute zero chance of success. This is where people’s romantic impulse has value—the thing that prompts us to throw ourselves into impossible causes. After all, some folks do win the lottery. Some families working very hard with a disabled child do achieve life-changing breakthroughs. Heck, even in our abysmal ignorance, Judy and I won victories with Joseph.

And for those who don’t get the prize (we didn’t, certainly not to the extent we wanted), well, there’s comfort in knowing that it’s not such a bad thing to expend yourself on a noble cause.

Still, it can only help to have a good solid grasp of what you’re up against. And that’s why I continue the pursuit, even at this late date. Next up for Joseph is a relatively new test called whole exome sequencing.

And then “someday“…

This blog post also appears in The San Diego Reader.

How to be happy

Apparent coincidences are one of the big mysteries in life. I know our brains are wired to look for patterns and connections where none may exist, and then to apply significance to them. But if we do find significance, might it not be real?

Here’s an example:

This morning, when a friend told me of her plans to resume creative writing after she retires (because life is just too hectic now), I offered a gentle warning. Years ago, my mother used to promise herself and others around her that, come some future date (her next birthday, for example), she would accomplish a certain worthy deed (usually it was a promise to stop smoking). In due course, that date would come and go and we would find that, mysteriously, the goalpost had shifted to another point that was again safely off in the future.

My warning was gentle because I’m as big an offender as anyone. I don’t know how much of this is caused by our inner wiring, as opposed to the kind of culture we live in, but everybody seems to imagine that in the foreseeable future things are going to become more orderly, more fulfilling—that we ourselves will become happier and more successful. This transformation will occur as soon as [fill in the blank].

Then we carry on with the same activities as before. Somehow nothing much changes, but (like my mother) we tweak the parameters as needed so that it appears we’re still on track.

I see a coincidence here because, after parting from my friend I went online, opened my email, and saw a message from the leader of a local writers organization. It began:

Many times I hear writers say, “You know, I think I’ll be happy when…”

The email continued with pretty much the same admonition I had just handed out, focusing on happiness itself as opposed to the other objectives we imagine as being prerequisites to that happiness (getting published or whatever).

As a writer, I would be happy if What About the Boy? went into a second printing, if the screenplay for it went into production. Much more importantly, as a father I would be ecstatic beyond words if some actual remedy were to result from the current renewed push to understand Joseph’s condition—which is the problem underlying creation of both book and screenplay.

My own choices and actions may have no effect on accomplishment of these particular targets. Despite everything I do, they’re still pipe dreams.

But hopefully that doesn’t mean there can be no happiness. And hopefully reaching for happiness while goals remain unattained is not mere denial. I trust that it isn’t.

The above email recommended a certain Muppet video (having to do with “the Snowths”) as a reliable switch to banish unhappy thoughts, and that reminded me of something that has had the same effect on me.

Please click the image below and see if it doesn’t give you a nice warm feeling.

NightGarden

What goes on in there?

large building

I began this blog three years ago with links to interviews I was doing at the time to promote my book. Along the way since then I’ve continued chronicling the ongoing story of the subject of that book (my son Joseph and/or the conundrum behind disability), interspersed with occasional thoughts about writing and reading in general (since that too is important to me) and a snippet or two of what I hope is generally useful insight. I see other writers doing the same on their blogs, possibly with more behind-the-scenes peeks into their daily lives, personal neuroses, ambitions, etc.:

  • “This was a good day. Got a chapter finished…”
  • We will not see the like of Elmore Leonard again…”
  • “I really want to go to Hogwarts… I want Hogwarts to be real.”

Typically, the main point of an author’s blog is to let the reading public know about the existence of a certain book. If the blog is amusing or compelling in some way, visitors may feel moved to take a chance and order a copy. At least, that’s what happens when I find a good author site (Sarah Hoyt’s springs to mind). But blogging is much more than simple promotion. As a public record of what is happening in the author’s world, it can be meaningful when those events have a bearing on the author’s subject, or the creative process, or the joy of reading. That’s when web surfers may glimpse a dynamic connecting the author’s life and efforts and shining a light on the reason the book had to be written.

All this is meant as a sort of apologia for the fact that my posts this year have focused on a renewed effort to identify and perhaps even once again help my aging son. That process is a wheel that turns with exceeding slowness, so even when the cause is uppermost in my mind, updates are infrequent. Apparently it must be uppermost in my mind, and I must be persistent, for the wheel to turn at all.

“Patience is a virtue,” according to a very nice lady who phoned yesterday with the results of Joseph’s microarray.

She said that because the medical center will now be initiating a request for another genetics test (this time of me), and she didn’t want me to expect that it would occur at anything approaching flank speed.

Backing up a bit, it’s now finally known that Joseph is missing “a relatively small piece of DNA” on chromosome 11, including part of one gene (identified as LRRC4C). This is “a variant of unknown significance,” because there isn’t a population of other people known to have the same deletion. Therefore, we don’t know if it’s responsible for Joseph’s condition.

Nancy, the lady who called, compared the gene to an anonymous building. We don’t know what goes on in there, she said.

If I too have the deletion, then its familial, likely benign, and we’ll have to look elsewhere for the source of his difficulties.*

However, a few minutes of online research has yielded the news that this gene may be involved in development of thalamocortical neurons, which in turn are involved with transmitting or processing sensory information. It makes sense, at least, that disruption of this might lead to an autism-spectrum disorder, which is the default label applied to Joseph.

(Hmm, I wonder if a full complement of DNA in this gene would also have given Joseph normal height, a heart without a murmur, etc. Oh, and I almost forgot: Perhaps it would have enabled Joseph to walk on schedule as a child. It’s a mysterious building indeed.)

Despite all the above, life for Joseph continues as before. I’m feeding my own inner demon but accomplishing nothing for him. Still, just as technology has emerged to make this test possible, gene-editing therapies may be in the wings.

Maybe.

*UPDATE: Albeit slowly, the story does continue to unfold, which is a reason for new blog posts. But a footnote is needed here to say for the record that we now know I, as Joseph’s father, have the same deletion on chromosome 11. Since I’m not disabled, this is unlikely to be the explanation we’d thought it was. A more expensive procedure called whole exome sequencing can provide more detailed analysis. I would like to have the info that would yield. At the same time, it boggles my mind that we must delve so deeply to find the basis for a condition so manifest.

29 years and counting

path through maze“So, tell me. What brings you here today?”

“Well, my son here is 29 years old, and he doesn’t have a diagnosis. My understanding is that the state of the art has now advanced to the point where it may finally be possible to get one.”

The intake consultant looked incredulous. “Twenty-nine, and no diagnosis?” She watched him for a moment. He had appropriated the paper tape measure she’d used to measure his head circumference and was now obsessively waving it about in the air. “What’s wrong with just saying he’s autistic?”

“Some people have said that. It’s a convenient handle. But it doesn’t explain anything. No interventions for autism have ever helped him. The treatments we’ve pursued all these years have just been based on guesswork. Some doctors have said categorically he’s not autistic, and a few have pointed out some subtle physical traits that suggest genetic involvement—a deletion or duplication somewhere.”

As often happens, I was saying more than this lady wanted to hear. She attempted no further conversation and just entered a few bits of data into the computer system before leading Joseph and me to the examining room.

We were at Cedars-Sinai Medical Center in Los Angeles, having driven up for the day from San Diego in hopes of finding a genetics specialist willing to provide the diagnostic test that (for reasons I will never understand) the clinic in San Diego had failed to run. Almost four months had passed since Joseph’s wasted appointment there, during which time I’d fallen back into the aggravation and alienation I’d known when he was a baby: You doctors don’t find his problem interesting? You have no curiosity? You see no reason to follow through on your own promises? You don’t return my calls? Why did you go into this line of work in the first place?! Well, never mind. Watch us go elsewhere.

(I’d thought I was now too old for the kind of adventure described in my book, but maybe not. That emotional track is still well polished.)

Okay, okay. Bernie Siegel has explained, and given examples to show, that potentially irritating setbacks can actually be blessings in disguise. If the doctors at Cedars-Sinai help Joseph to a greater extent than would have been possible in San Diego, then ultimately it’s good that events conspired to take us up there.

And that may be. I struggle with that kind of thinking, however. God’s plan for the universe might turn incompetence, evil, or tragedy into good, but my point of view is constrained by experience.

Joseph’s thoughts on this (or any) subject are, as always, less accessible. I would gladly give this space over to him if I could. A point of view does appear to be in there. The social worker who saw us next and the physician who followed both perceived it. For example, after hearing us discuss him for a few minutes, he became visibly unhappy. Who wouldn’t? How’d you like to sit in the presence of people discussing your pectus, hypotelorism, and short fingers?

missing volumeResponding to his discomfort, Dr. Saitta switched to a more generalized topic, comparing a person’s genetic code to a set of encyclopedias. At the time Joseph was born, genetic testing would have revealed whether a volume from the set (say, the book for the letter M) was missing, or if an extra copy were present. We’ve known that isn’t the case. The new test I’ve been pursuing can show if one line of type is missing anywhere in any volume. There is further (more expensive) testing that might spot errors at the word level (e.g., fudge instead of judge). The doctor said spaces between the “words” are her discipline’s next challenge. Work remains to be done, but she seems to be on the leading edge of it. We’d come to the right place.

We got the blood draw, and in a couple weeks should have the result.

Joseph at 29I don’t know if anything can be done in terms of therapy that might improve Joseph’s options in life. That’s a separate question. But it seems to me that an understanding of what we’re up against would be a really good first step.

After 29 years of messing around.

It’s understandable that even specialists don’t know everything about this stuff. But I will never understand the continuing habit of so many providers to treat patients the way Joseph has been treated time and again. Their only redeeming quality is the ability to energize me for renewed efforts. Which occasionally lead to someone like Dr. Saitta.

How I became a fanatic

Obsession

Years ago, my wife Judy and I had a baby with problems. Something bad must have happened to him prior to and/or during birth. We didn’t know that at the time. I mean, he looked great! But as an infant he cried pretty much nonstop and vomited frequently. And then he began missing developmental milestones, such as learning how to crawl.

Judy and I wanted to make things right. Who wouldn’t? The little guy depended on us. And by the way life at our house was not much fun. So we wasted no time in taking him to doctors. We found it a little confusing when those doctors simply told us to wait.

Waiting’s hard when a child shrieks all day and night. Judy and I were new at parenting, but surely this had to be outside the norm. How did other parents handle this kind of situation? Judy thought some people in our shoes might even hurt their kids. There were stories like that in the news. Lacking a better idea, she phoned a child-abuse hotline.

“What do people do?” She demanded. “What do they do when their baby keeps on crying and crying and crying?”

The counselor said it sounded like a medical problem and we ought to be seeing a doctor.

After the first year, the many doctors we continued seeing began to change their message. Instead of asking us to be patient, they now said we had to accept reality. Our son would always be different.

What condition did he have, then?

They didn’t say.

He still cried, still threw up, remained immobile. Would this be his future indefinitely? Were we seriously expected to accept this on his behalf?

Actually, we were. One doctor said to park him in day-care and get on with our own lives.

But why? What caused this?

“It just happened.”

When pressed, another pediatrician mentioned the existence of unconventional therapies. “But I’m not going to talk about that,” she added. “You’ll need to ask other parents.” Those other parents put us in touch with a provider who had a partial answer. Joseph had been hurt during delivery, she said. His skull had been compressed and could not expand. He was in pain.

The fact that she was able to alleviate his discomfort, and stop the crying, led us to believe that she’d been at least partly correct.

And later, when another alternative resource showed us how to get him crawling and then (at 39 months) walking, we felt sure that we were on the right track. And that the right track did not involve mainstream providers.

I began writing about the adventure, but the story took a less-upbeat tone as it continued following our trajectory. Years were passing, and Joseph hadn’t acquired speech. Oh, there were a few startling instances in which he said something—and then looked as surprised as we did—but even those tapered off.

I should add that there has never been doubt regarding Joseph’s own desire to have normal abilities. He was our active partner in the cause.

But Judy and I couldn’t ignore accumulating side effects of the effort (we were the ones doing the therapies, all day, every day), and the ongoing frustration, money worries, exhaustion, and loss of perspective. For her, all this led to illness, eventually to death.

And Joseph remained far from where he needed to be, if he was ever going to have any real options in life.

Belatedly seeking balance, I traveled, remarried, fathered and raised a couple new kids (blessedly free of developmental issues), and revived long-forgotten interests such as music.

Joe-arboretumAll that helped me, and hopefully the others around me, but accomplished nothing for Joseph. And so I couldn’t stop seeking providers who might have ideas. Incredibly, I still didn’t know the cause of his condition, or how it prevented him from acquiring skills. That meant everything attempted was a crapshoot (as it had always been; we’d just been lucky with those early efforts). Since interventions still tended to involve significant effort and financial outlay, my determination began to resemble a gambling addiction.

But what’s the alternative, when you see your first-born son sliding backwards? He has begun losing important abilities that I thought were solid!

Recently I took him to a genetics specialist (the only one in town) who said a new diagnostic test would most likely finally identify the cause, at least, of our troubles. For unknown reasons, the illustrious doctor would not perform that test. But gatekeepers bring out my inner bulldog. Joseph and I now have an appointment with specialists in another city, and if they don’t work out we’ll look further.

And when I know what he’s got, that will be one step along the path.

Seeking resolution

developing_trayThe last several weeks have contributed a new dot in a pointillist picture that has been slowly emerging, like a photo in the developer tray, throughout my son’s life.

The image still isn’t entirely clear. Often I have thought it shows a medical system that’s content to ignore the needs of helpless children who depend utterly on whatever interventions it might offer. That’s what I see when I’m angry. At other times, it looks more like a depiction of the futility of human effort. But the picture continues to take shape, with excruciating slowness, and maybe something more encouraging can yet emerge.

A little background: Joseph has a poorly understood developmental problem that has prevented him from being able to do anything constructive throughout his life, or even to interact normally with others. My memoir covers some of the avenues his mom and I pursued in hopes of making things better for him. And with his cooperation we did actually improve the quality of his life. Significantly. I think our story shows in part that it is worthwhile to extend yourself, and take risks, in pursuit of a cherished goal.

But our achievement of that goal was far from complete, at least partly because we never really knew what we were dealing with. Until you identify your problem, anything you do is guesswork. At various times in his early years Joseph’s doctors used terms like brain injury, cerebral palsy, encephalopathy of unknown etiology, autism, and (my favorite) “he’s got something but we don’t know what.” Treatment programs for such conditions have tended to be controversial, which means not endorsed by mainstream medicine. Which does not mean mainstream medicine had anything of substance to offer. (Please note that I do not blame doctors for what they don’t know. I do sometimes think a bit more effort on their part, in the interest of learning how to help a problem patient, would not be amiss.) For lack of an option, Judy and I took the route into controversy. Quite a few people we knew, or knew of, did likewise on behalf of their developmentally challenged kids — and claimed success! However, without a real diagnosis, we had little assurance that our efforts were being properly directed. When you do something for a period of time — something that may be very difficult and/or very expensive — and you see no result, what does that mean? Should you stop, or should you double down on the theory that more is needed? Questions like that can make a parent crazy.

When Joseph was 16 or 17 years old, a doctor visiting from the East Coast saw him and told me, categorically, that he was not autistic. Instead, various subtle cues I hadn’t even noticed meant that a genetic error was almost definitely at the root of his problem. Well, perhaps that would explain why all of the interventions reported to help with autism had failed us so miserably.

Next question: What, pray tell, is the genetic error? Maybe I’m just a geek when it comes to medical issues, and maybe I know only enough to be dangerous. But it seemed to me then, and still does more than ten years later (This spring he will have his 29th birthday; my boy is practically middle-aged!) — it seems to me that understanding the underlying mechanism would be a necessary first step toward real treatment. I mean, if for example he cannot produce some enzyme or cannot regulate some metabolic process, conceivably something might be done about that. Isn’t this worth exploring?

What has followed has been a series of widely-spaced visits with an eminent specialist in genetics/dysmorphology (ironically, someone who examined Joseph as a newborn and pronounced him free of genetic abnormalities, based on technology available at the time). I’ve tended to seek out meetings with this gentleman whenever my personal research suggests a known condition we might test for.

For example, in 2007 I read about Smith–Lemli–Opitz syndrome (SLOS), an inborn error of cholesterol synthesis (Joseph’s blood tests always showed low cholesterol) that shares many characteristics with autism, e.g., hypersensitive to auditory stimulation and obsessive-compulsive behaviors such as hand flicking. This sounded promising to me, but the doctor thought it highly unlikely because that syndrome comes with other traits that Joseph doesn’t exhibit. He did order a test, to placate me, but due to a series of snafus with the lab that test was never run.

Late in 2013 I read about 22q11.2 deletion syndrome, which comes with heart abnormalities, lowered communication skills, and poor ability to stay on task, and is impervious to autism interventions. Another possible match! Back Joseph and I went to the good doctor. Again, he said that was an unlikely diagnosis. He did mention this time that the state of the art has advanced significantly in diagnosing missing/duplicated genes and offered a reasonable hope that something called an array comparative genomic hybridization test might yield the answer for which I’ve searched so very long.

Incredibly, after six weeks I cannot seem to get this test performed. Repeatedly, I’ve taken Joseph to the lab for a blood draw, and the lab has said the paperwork is unclear, the order isn’t in their computer, etc. Somehow, going back to the doctor’s office does not help. Calling means leaving a voicemail that isn’t returned. Barging in there in person gets me a nice receptionist who says the doctor and his secretary are “not in today,” and who prints out more paper that the lab again refuses to accept

This test IS going to happen. I am not giving up.

But what picture is coming together with all this? Are we seeing primarily the sublime indifference of people presumably in a position to help? Is this simply an object lesson in my own unproductive, compulsive behavior? In weak moments I begin to wonder how productive any activity truly is. All this bustling about certainly keeps one occupied, but results are nice, too, aren’t they?

By the way, in warming up to get all this off my chest, I typed the following phrase in Google:

WHY IS IT SO HARD TO GET ANSWERS?

The first hit to come up with that is a post by another parent, also worried about her kid:

circle_of_moms_com