Living a Nightmare, Hoping for a Dream

Dear Son was in elementary school when I think it was the hardest. I would look out across the street at my neighbor’s children, the oldest which was about the same age as Dear Son. His white blond hair would catch the light as he played about the yard. He was 100% All American boy. I remember as a toddler, he’d be taking the ball and passing it through the basketball hoop. As he got older, he’d think nothing of jumping in a pile of landscape dirt, in his white t-shirt, jean shorts and gym shoes. I remember laughing to myself thinking that his mother was going to be so peeved when she saw that shirt; I know I would just die if Dear Son did that and messed up his clothes. Not really, of course. It was the kind of thing you would say if that was the worst thing that your child did and you prided yourself in keeping your kids looking nice. I would be thrilled if Dear Son could have played sports and jumped in the dirt pile. My own Dear Son would oblige me a few years later when he’d sit in the “dirt hole” and play. I never complained about his clothes.

My neighbor’s son would go on to play soccer, at a young age. He and some of the other boys in the neighborhood would play and the parents would come to watch the games on Saturday morning. My other next door neighbor was a coach and his son played as well so there was an instant bonding of all the parents of the kids who played soccer. That was only normal. I couldn’t help but be a little envious when I went to the neighborhood’s party, and the conversation would turn to soccer or to the other sports; I would soon be quiet, pretending to hone my listening skills, as the other parents would tell the sports stories. I wished how Dear Son could play. I have no doubt he’d be an All Star sports player, if only….. They didn’t know it but when he was sitting, he had a mean kick that would have scored a goal that the best goalie couldn’t block. He’d sit on the floor, with his left leg bent in, and some unsuspecting person would sit a few feet away and roll the ball his way, to be nice of course. Dear Son would kick that ball so hard that the impact of that ball would not only test their reflexes but take their breath away as it knocked them out when it landed in the pit of their stomach. I’d warn them but they wouldn’t listen until they were gasping for breath. My son had a mean left foot, for soccer that is, but the running part of his game, left a lot to be desired.

In elementary school, they continued to send the flyers home. They’d send flyers home every spring for Little League tryouts and during the year, we’d get soccer tryouts and just about every other sport imaginable. I tried asking them nicely not to send them home and even begged them at the annual IEP (Individual Education Plan) meeting to stop however they explained that it would be discriminatory to exclude the Special Needs children from getting the sports notices. Sometimes, it’s more important to be kind than to be nice.

Over the years, I got used to the fact that things would never be the way I wished or I had hoped for Dear Son. It takes time though. Dear Son was only two or so when one of the pediatrician’s was nice enough to tell me that Dear Son was never going to do more than a one year old, even as an adult. He is fifteen now, takes PediaSure via a g-tube and is still in diapers. He wasn’t that far off.

So the problem started with this blog. I began to see several referrals from an infantile spasm web site and decided to investigate. I joined the site, curious to find out where these referrals were coming from. What I found were many mothers, all parents of infants with infantile spasms, looking for answers to their child’s seizures. There were all different kinds of threads, some looking for answers on the best medications for their child, some looking for advice on what kind of diapers to get, and other mothers sharing their suggestions and tales of woe to help each other. When I say tales of woe, it’s not that they were exaggerating, but I couldn’t help but feel such grief and sadness when reading their stories. They really were tales of woe. I was instantly transported when I read their posts, instantly transported back in time to my days with Dear Son. It was the same feeling you get when you walk into a junior high school in any part of the country. No matter how well your life is going, when you walk into that junior high, you are instantly taken back to your junior high days, whether you want to or not. It doesn’t matter if your days in junior high were good or bad, it’s just the growing pains of being a teenager, days any adult would like to forget. You leave the building and you are back in reality, and glad too.

Then there were the e-mails. I began to get some e-mails from some of the parents asking me for answers. One of the parents said it was killing him and his wife thinking about their child’s future and wanted to know what I could tell them. I suddenly felt very inadequate and very protective at the same time. While I wasn’t an expert, I knew in my heart that nothing much would change. I thought back to what I wanted to hear when I was in their shoes and it was honesty. But my heart kept pulling me back. I remember too clearly the frustration of looking for answers in the early years and wanting the pediatric neurologist to put things in black and white which he would never do, just giving me shades of gray. I suddenly cut him enormous slack.

Then there was another e-mail from a mother begging for answers for her son who was having uncontrollable seizures, none of which could be stopped. She didn’t have access to the kinds of medical care we take for granted in our big cities, but she certainly would get four stars for trying to get answers. She even traveled out of state for answers, but they sent her son home to die, since there was nothing they could do for him. I asked a few questions, like how often they performed the EEGs and she said they were doing it every six months. I nearly choked. I wanted to tell her to pack every bag and get to the nearest big academic medical center and to move if she had to rather than lose that child. But I didn’t.

What was most striking though about all of these posts, was the love these parents had for their children. They were all looking for answers, willing to do whatever it takes to stop the seizures. The hardest part though, was the emotional part, seeing these parents grieve for the life that their children would never have, more often than not, the lives of their sons. They were in fact, living a nightmare and hoping for a dream. I remember those days too, when the only way out was a miracle. ‘Tis the season, for miracles. I’ll pray that they all come true.

The Last Thanksgiving?

You never really know if it’s the last Thanksgiving. For many years, I’d celebrate Thanksgiving with my family by either cooking a turkey or going to someone else’s home for the big day. The day would be filled with turkey of course, then lots of delicious food, too much to eat on any one day.

This year of course is different. Dear Son has made it through the MRSA pneumonia in May, lived through a relapse in June and celebrated his 8th grade graduation and his birthday last week. I have a lot to be thankful for.

I spent the last week thinking about his days in the Pediatric Intensive Care Unit (PICU) at Big Academic Medical Center and the hard work of Dr. B, who saved his life the day he was airlifted to Big Academic Medical Center from Local Hospital. I thought about how tirelessly the whole team worked for twelve hours straight to save Dear Son’s life. I thought about how she saved him, and kept him from dying on Mother’s Day and how she brought tulips in for all of the mothers in the PICU, on that day. It was at that moment, that I thought that perhaps there was hope, that my prayers were going to be answered on that day. And they were. Dear Son lived.

He lived to attend his eighth grade graduation just a week after he was dismissed from the hospital, only to suffer a suspected relapse of the MRSA pneumonia a week later.

He made it through the summer, and was able to attend high school in the fall. Imagine that, high school.

He made it through the fall to celebrate his 15th birthday last week.

He made it through yesterday, to get his fancy new tilt wheelchair, so he can sit up better and we can enjoy our walks.

Yes, I have a lot to be thankful for this Thanksgiving, even if he can’t eat turkey anymore. I suppose I can just say a prayer right before I pour the PediaSure into the feeding bag. I’ll thank the Lord for another minute, another hour and another day with Dear Son. I’ll kiss his beautiful face and get down on my knees and say thanks. Thanks for another holiday with the one I love. It could have been worse…if he died, I’d be remembering my last Thanksgiving with Dear Son and instead I am enjoying this one, turkey or no turkey. I think that is cause for a celebration.

News

Recently, I have received several invitations from various organizations regarding publication of my blog. This post is to notify you that I have recently accepted an invitation from the lead editor at Pluck Corporation to become part of BlogBurst, the world’s largest blog syndication network. Pluck Corporation operates BlogBurst, and distributes the content to media sites and newspapers around the world. Recently, Reuters has formed a strategic alliance with Pluck Corporation, to syndicate third party blog content as part of Reuters news and information service. Under the terms of this agreement, Reuters will offer BlogBurst’s syndication service to thousands of its media customers worldwide including The Washington Post and the Gannett newspaper chains, among others. You can read more about Reuter’s and Pluck Corporation’s agreement here and here. Here is an example from the Reuter’s website. I am excited about this new opportunity and would like to thank you all for your support and your interest in Dear Son.

Happy 15th Birthday to Dear Son!

Today is Dear Son’s birthday. To celebrate his birthday, here are fifteen things he would like to tell you about himself:

1) I love a party.
2) I am happiest when I am in a room full of people.
3) Most people compliment me on my blue eyes or my smile.
4) I love country music but my Mom doesn’t care for it. Gretchen Wilson is my favorite country singer. One of my teacher’s introduced me to her music.
5) My best friend in my talking Barney. He keeps me company.
6) I love going for a walk and swinging.
7) I enjoy sitting in my rocking chair.
8) I like it when people get in trouble. It really makes me laugh. I laugh really hard and loud and sometimes people think I am having a seizure.
9) I look exactly like my father but people tell me I have my mother's personality.
10) I love beautiful girls.
11) I am very extroverted.
12) I like it when my cat gets in trouble.
13) I smile when I meet new people.
14) I like listening to music on my headphones.
15) Animals love me.

*This is my favorite picture of Dear Son. It was taken when he was 13.5 years old when he could still sit up and hold his head up.

Killing Me Softly With His Song

We had been sitting there waiting for the doctor to come in. Dear Son, head down, hanging to the left as it always does now, as if his left ear were somehow sewn to his chest; he is quiet, ready to lie down, as he always is, after just a few minutes in the chair. My body was aching, my back throbbing and every square inch of my body hurting, like I had been in a terrible car crash, only there was no crash. Instead, it was as if all of my insides had been torn out from lifting Dear Son, just another casualty of his disease, kind of like a two for one deal.

The progress report had come home from school the other day. They described how Dear Son would fuss after just four to five minutes in his chair, when they wanted him to attend to something. I knew it had nothing to do with attending to the object or lesson; he was fussing because he desperately needed to lie down, unable to sit up any longer. It was just another sign, that things were never going to get better. I looked over the IEP (Individual Education Plan) and saw that none of the goals we had created last year, would ever be attained. I had no idea of what we should do. I knew really, that there could be no goals, because we were on the downside of the hill, so to speak, and just coasting to the finish line, the kind you never want to cross.

It was just yesterday morning, when he boarded the school bus, head down while the aide gently secured him in. Once boarded, the school bus drives around the bend, turns around, then passes me once again as it heads towards school. I usually wait, because I like to get another glimpse of Dear Son and wave to him as he passes by. It is doubtful he sees me though, because his head lies down on his chest, like a broken dolly, that a child has loved too much. The kind of dolly that is ready for the trash, but that no little girl, will ever part with.

The progress report, along with his ailing body, were just two of the examples I would talk to the doctor about. His seizures, were fairly well controlled with the medications, however his night breathing was another story. Night after night, I would lie on my bed, listening to the watery breathing, as the saliva settles in his throat and he tries to breathe through it. The breathing is loud and cuts through the night, easily heard, by ears of any age. I wait until he can breathe easily again; sometimes, I wait a long time. He is unable to control his own saliva anymore and it often backs up in his throat. I spray the Atrovent into his mouth, to decrease the secretions, but I am never convinced, it does much good. The breathing rages on, and I listen night after night, with the same uneasiness like a mother hearing her newborn crying in another room in the hospital, unable to save him from the spinal tap he is receiving. You never forget that cry, or the pit in your stomach, when you hear your baby cry. I remember that cry too, it’s all there, still fresh, as if sitting on the edge of my brain, waiting for a recall. Some nights, he and I get lucky, but other nights, it’s terrible and neither one of us sleeps very well.

The nurse comes in and sees Dear Son. She speaks softly and gently strokes his hair with her hand. She asks how he’s doing and I look away, avoiding any eye contact, so as not to cry, as I tell her he’s not doing so well. She knows this of course, but she’s being polite. I tell her about his birthday on Sunday, hoping to get a smile out of Dear Son. He loves a party and loves his birthday. He’ll be fifteen then, all but ten weeks of those, spent at Big Academic Medical Center, and with Ped Neuro Doc, who’s seen him from the beginning. It’s hard to believe, it’s been that long.

The visit begins and soon thereafter, they are checking the readings on his Vagus Nerve Stimulator. When it was implanted, Dear Son was so thin, that the device stuck out under his armpit, easy enough for a child to find. Today, the only telltale sign, is the scar that remains from the surgery. The nurse tries to hold the device, Ped Neuro Doc holds Dear Son’s arm up and away and I hold his head to the opposite side, to assist in the reading. I had offered to lift him onto the table however the doc thought we could manage by leaving him in the chair. The nurse drops the device and tries again repeatedly only she can’t get a reading and then can’t find her pen. I look at the doc and tell him it’s like a bad neurology joke. With that, Dear Son erupts in laughter immediately, his belly laughs only adding to chaos of trying to get a reading. Next the doctor starts laughing and soon we all are laughing, Dear Son leading the way. That’s the essence of Dear Son, always loving a good laugh and with a laugh that’s so contagious, you can’t help yourself. It’s the kind of story, you would tell at a funeral, at least that’s what flashed through my head.

The visit ends with a discussion of the surgeries. Tonsils and adenoids removed, to open the throat for breathing and a Nissen, to help with the reflux. I ask if it can all be performed before the end of the year, since we’ve met our stop loss. Our stop loss, is met every year now, as a formality. That’s when you know, the disease has you.

We leave the visit, my hands full with the required prescriptions and I get in the car for the long drive home. I wonder now, with all of the suffering, how much is too much. When do we stop? When does it end? It’s like trying to make your ride last longer at the amusement park. Somehow, it’s never as good when you do that. But when do you stop, that’s the question. When is enough finally enough? I look back at Dear Son, head on the pillow that’s become mandatory in the back seat, and see his gorgeous face. He’s quiet and sad, as he is most of the time now. I start talking about his birthday and the small party we will have on Sunday. I tell him that we will all be singing “Happy Birthday” to him and he begins to perk up. He just loves a party. I sing the song to him and when I get to the last line, I add on the “and many more” as if saying it will somehow increase his lifespan. After all, it’s only a matter of time, before the last candle will go out.

The Clothes Make the Man

I was driving around the block, in this new neighborhood, waiting to meet a friend when I came upon the stop sign. To my right, was the new high school. It was several stories high, all brick, and quite imposing. What I noticed most were all the steps to get in. The kids were all walking towards the school since it would be starting soon. It was a cool fall day and the boys were dressed mostly in jeans and short sleeved t-shirts or jeans a sweat jacket of some sort, unzipped and open. Many did not have on closed toe shoes. The girls were dressed similarly only the jeans were tighter and the t-shirts were smaller. They too, had a thin jacket, unzipped and open. The temperature was less than thirty degrees on this day. I thought about the clothes that I dressed Dear Son in today, a heavy fall jacket, long sleeve shirt and sweat pants. I looked around and couldn’t find any of the teenagers, dressed this warm.

I was taking in everything I could, as I slowly drove down the street. I was thankful I was in a school zone so I could absorb all of their actions. This was after all, the high school in our district, the one he should have gone to. I say should, because they denied his admission, even within the Special Education Cooperative, since they did not have the facilities to care for him. What they really meant was that he was too “disabled” for their school. Secretly, I was happy. I had been afraid to send him here, because none of the kids in his classroom would be here, nor any of his aides, nor any of the teachers that knew him. Heck, even the bus company changed. There would be no one that would know anything about Dear Son.

You can’t imagine how that would be. Some of the kids in his classroom could at least speak, and they could have provided some information about him but with no one, I worried about what might happen. Even with a new aide, you always wonder if they will be good to him and also if the school kids would be good. Most often, they just ignore these kids.

I was curious especially about their clothes. One of the advantages of special needs children, is that you can buy them whatever you like, at least if they can’t speak or express their wants or needs. With Dear Son, I could buy whatever I liked and did. I never had to worry about what the trends were at school and usually, he was one of the best dressed. He still fit in of course, but he looked great. I had a rule though, from the very beginning. I made sure never to buy any sweat pants of any kind. That was what disabled people wore and I certainly didn’t want him to “look” disabled. I returned every gift that he ever got, that included sweat pants. I was never ashamed of Dear Son but I loved to dress him well to not only celebrate him but also as a reminder that someone was at home who cared about him and that I was paying attention. Paying attention, meaning, if they were going to mess with him, I was going to find out and then they would have to deal with me. That’s always the fear of the parent of a disabled child, that someone will mess with them.

Dear Son is almost fifteen now and the past year or so hasn’t been kind to him. Not only has he gone through puberty and put on some weight with one of his meds, he can’t move much. This makes dressing particularly problematic since he can’t seem to help at all. I have had some training by the occupational therapists, but it’s still pretty difficult. It was this past year, that I finally broke down and purchased some elastic waist sweat pants. He has other pants certainly, some jeans and some khakis, however the easiest ones to put on and off are the sweat pants. I have to roll him from side to side to get on his pants and it’s nearly impossible to lift his hips off the bed to put on his pants. If I am trying to put on jeans or khakis, by the time I get them up on him, the zipper may be crooked and it’s hard to line everything up, which is where the sweat pants come in. Also, since he’s still in diapers, this is a major issue.

This clothing issue, is why I was so fascinated to watch the other teenagers walking to high school. Did Dear Son fit in anymore? How would he be perceived if he were “normal”? Not a fair statement at all since if he were normal, then he’d be wearing more fitted jeans, in different washes, like the ones that hang in his closet, but that he never wears. He’d also be dressing himself, buying some of his own clothes and certainly wouldn’t need any “extra” room in his jeans for his diaper or for his leg braces. It’s pretty hard at fifteen to buy jeans for him, since most of them are fitted, and don’t allow extra room for these things.

The clothing issue, is what prompted an e-mail from a friend of mine in another state. Her daughter is severely mentally and physically disabled and is extremely small for her age. She is eleven and size of a five year old. She participates in an online group and came across a message post one day where someone randomly asked why all disabled people were dressed like babies. She was crushed. They weren’t asking her, mind you, just asking a general question. She was in tears. She had just purchased a Disney t-shirt that she thought her daughter would love but after seeing the post, refused to dress her in it, because it might appear too “babyish”. Her daughter, wears a full body brace and requires elastic pants. She also wears a onesie cotton t-shirt with snaps, under her brace, to make it more comfortable, when she sweats. She e-mailed me to get my thoughts on this matter.

I find it ironic that mothers of disabled children worry so much about their clothing. We just want our kids to fit in and to be kids. It’s ironic because in Dear Son’s case, many of his high school peers wear pull on nylon sweat pants, and they aren’t disabled. Many normal girls also wear yoga pants so to dress them in pull up elastic pants, isn’t so horrible. I doubt normal teenagers worry they look disabled in sweat pants. Maybe we shouldn’t care so much either.

I thought about this as I dressed him for school today. In a defiant mood, I took his Lucky Brand jeans out of the closet and put them on. After several minutes, they were up. I reached in for the zipper to pull it up and there was the hang tag sewn next to the zipper. It said, “Lucky You”.

*Photo was taken in August of 2005 at age 13.5 years old. This is my favorite picture of Dear Son and is the last photo I have of him, where he was able to sit up straight, even if only briefly.

Pediatric Grand Rounds is up!

A special thanks to ex utero for hosting the 15th Edition of the Pediatric Grand Rounds this week. He did an excellent job. If you get a chance, you can check it out here. I'd also like to thank him for including me in this edition.

Dear Son Diagnosis Update

I met with Dear Son's geneticist last week. Previously, as I reported here, he had listed Dear Son's diagnosis as Partington's Syndrome which was caused by a mutation of the ARX gene. Since that time, they have learned a little bit more and they have dropped the Partington's Syndrome from his diagnosis. His diagnosis is "Cryptogenic Infantile Spasms caused by the ARX Mutation"; they do not have a formal name for it as of yet so this is simply how they have described the diagnosis. As he explained, the reason for the cryptogenic part is that frequently the seizures do not initially show up on the EEGs however at some point, the EEGs will get progressively worse until it will show that they are seizing all the time. The reason for dropping the Partington's Syndrome had to do in part with the dystonia-upon further examination, the hand movements are not dystonic in nature but different. I can't recall the precise term that he used however it he described it to the other two physicians that were present in our visit as a twisting backward of the hand/wrist. The picture above is an example of the unusual positioning of his hands and when his arms are down, the left wrist will remain flexed as positioned above but twist backward. Two years ago, we met with the geneticist and a movement expert and they videotaped Dear Son at Big Academic Medical Center to document the hand movements in particular that are unique to the ARX mutation. This videotape is still used today to educate other physicians on this disorder. I signed a new consent form so that this could continue to be shared and distributed.

He has also shared with me that in the total knockout cases of the gene, those boys are born without any testosterone. At the present time, there are only two places in the U.S. testing for ARX at the present time, Boston and Chicago. See the link above for more information on where you can get tested.

As I recall, there are still less than 80 cases total that the geneticist is aware of with the ARX gene however eight of the last ten cases tested positive with the same gene pattern as Dear Son. This brings the total number of cases for Dear Son's gene pattern to 13 or 14 cases.