Off to see the Wizard -- in hindsight.

Last week I was at the Global Genes conference for advocates of rare diseases. Hope was not only a theme or a tagline there, it percolated through even the most dire discussions of the roads ahead. For many facing a rare diagnosis, the road to hope (of treatment or a cure) goes a bit like this: identify a patient population, identify a gene, fund research, get a clinical trial, then phase 1, phase 2, 3 etc. For my son’s rare disorder Menkes disease, I suppose we’re fortunate to be pretty far down that road. We know the gene, have a clinical trial, have a treatment.

If you have a disorder rare enough to be in need of treatment through a clinical trial, you’ve likely been through some version of hell. You have a disorder with no proven safe treatment. Somehow after getting the dire news of your rare diagnosis you found out that your last best hope is through a clinical trial. Your journey to get a diagnosis undoubtedly had its own scares and worries, and shining like the light at the end of your dark tunnel comes the word: there’s a clinical trial for this disorder, and you might qualify.

And it gleams like hope, your hope against hope. It shimmers like the Emerald City of Oz. Where just a day or two before you felt there was nothing to be done and no where to turn — your hell, like Dante’s had a sign reading “Abandon All Hope Ye Who Enter Here” — now the golden path unfolds before you. You need to go see the Wizard; he can help.

Until this moment you’ve probably been researching and hitting dead ends. Your local doctors have admitted to being out of their depth on this condition. Your friend knew a specialist you should talk to. You did and she turned out to be a specialist in not exactly what you need. When at last you’ve found the expert, the one to whom all the other doctors defer on this disorder, it feels like reaching the happy end of a long quest.

I don’t want to dash anyone’s hopes who may be on the road trying to get a clinical trail for their disorder.

But the clinical trial isn’t the end of the quest, and it may not be happy. Entering the clinical trial, like entering Emerald City, may bring you help, but it will likely bring you some disillusionment too. And the help you get might be far different than the help you were seeking. You’re starting a new journey as a trial participant, and it might be helpful if the office had a sign like Dante’s. Perhaps it should read “Abandon Some Hope” or “Here be Dragons” as they used to mark maps to indicate unknown perils. At the very least they could underline the word “trial” in clinical trial. Double underline it.

Here’s why: you made this journey to get treatment, ideally a cure. But whatever treatment is on offer may not work in your case or in any cases. Or you might be in the placebo group and not get any real treatment at all. This is not to fault the clinical trial system. It needs to work this way if it’s going to work at all. But the patients expectations (and hopes) are often higher or misaligned when they begin the process.

I’m reminded of this excellent formula I first saw in an article on why millennials are unsatisfied.

 

Happiness = Reality – Expectations

I’ve written about adjusting our expectations in light of my son’s diagnosis, but even so we didn’t properly calibrate our expectations of a clinical trial.

The biggest revelation I had was that my son was not so much being treated as he was being studied. Yes, he did get treatment as part of the deal (unless he was in the placebo group), but the bigger picture saw him as one of many data points that might lead to a better treatment or a cure several years down the road. That is to say we could ease on down that sometimes scary road toward a cure, but the happy ending would be for someone else’s child.

For my wife and I it was so much like meeting a great and powerful wizard only to later pull back the curtain and discover he is an ordinary man. No doubt a brilliant scientist, but still a fallible man and not a miracle worker. Perhaps your researcher is overworked or underfunded or just unable to speed the progress toward a cure to when you needed it. We needed it yesterday, and even a wizard isn’t a time traveler. And that’s when our unrealistic hopes deflated. No balloon would carry us away from our troubles.

Even so, hope creeps back in; maybe this wasn’t our last hope, there might be another clinical trial for our disorder sometime soon.

I hasten to add we have no regrets. Armed with our more informed understanding of what a clinical trial could and could not offer, we remain glad and proud to have been a part of it. If no cure could come in time for our child perhaps our child could play a part in finding the cure for the next child.

We were able to pull back the curtain and see that our researcher was a very good man. We just should have never expected him to be a wizard.


As published on The Mighty: http://themighty.com/2015/10/when-the-last-best-hope-ln-your-rare-disease-journey-lets-y0u-down/#ixzz3oZFDkQDg

Tougher days

September. New school year and so of course a cold for Lucas.  And for the last month more discomfort or at least complaining.  At first it seemed likely related to the cold he had but that has cleared and the complaining has not.  It tends to be early morning and later evenings that Lucas complains more than before.  He can usually be brought back to smiles and laughs with enough play and attention so we can't rule out that these are just emotional displeasures he's voicing. But we're always afraid it could be physical. Our leading theory is poop related.  He might be finding it even more burdensome to poop.  (This January we discovered he needed daily Miralax.  Perhaps a larger dose is now needed.) 

It could be he's passing small bladder stones, although we haven't seen the stones in his urine. He sees urology in 2 days. His past few check ins with urology have had surprisingly positive reports.

And there's his hips.  After the right went to permanent dislocation (high and out side) in May of 2014, Lucas has had almost no complaints about that.  Then August 2015, after we decided against hip surgery, the left femur dislocated. It is inside and forward near the groin. It can pop back in to the proper location but spends 95% of time dislocated.  Mostly this seems not to bother Lucas.  But since something is bothering him and the timelines match perhaps it is related to the hip.

Prior to the past month we might go 3-7 days with out hearing an audible complaint from Lucas. Those we could almost always attribute to an emotional complaint rather than physical discomfort.  For the last month the complaints happen about 7:30-8:30am and 6:00-6:30 pm.  Of course this is wake up time and ready for bed time.  And on weekdays he's at school 9-3 so we don't observe any complaints he might have.

Update: 10/9 Urology visit went well.  Noted 1-2 kidney stones, and many bladder stones but not worrisome enough to warrant more than "wait and see". The next day a poppy seed sized stone was expelled.  Having ruled out discomfort from stones we upped his Miralx to 5 ml 2x daily (up form 1x).  So far that solves it (as of 10/14).

A film for Rare Disease Day 2/28/15

I made this short documentary about Lucas' disorder Menkes Disease.

"Heart Breaking - and Heart Warming" - Rare Disease Report

So far it has been re-posted (or tweeted or shared) by Geek Magazine, BoingBoing, The Mighty, NORD, Show You, TechNewsNow , Global Genes Rare DailyRare Disease Report. On 3/16 it screened as part of the 2015 Patients as Partners Conference in Philadelphia. and at a Rare Disease event in NJ along with http://congenitalhi.org/chi-video/, and http://www.raredr.com/.../Our-Curse-Oscar-Nominated.... Orphan Druganaught Blog wrote about the film.  It will screen at The World Orphan Drug Conference in Washington DC. Update: it screened twice at this conference to a crowd of 500 and got a standing ovation.

 

  Medical Daily wrote a piece on it. Rare Gnemonics Tweeted it and FB posted it.

March 26, Miles Murdoch passed away. It was almost exactly 1 month after the film was completed, and just 2 months short of his 6th birthday. His mother plans to show the film at his funeral service.

It also screened April 19. in Warsaw Poland's largest theater as part ofwww.FestiwalMedeon.pl   

Official selection: International Film Festival of Environment, Health and Culture in Jakarta, Indonesia.

It screened July 7 in Tula Russia as part of Shortsfilm.ru.

Official selection 2015 Cinema Touching Disability, Texas.

Mary McDonnell tweeted about it 7/15/15.  After Global Genes ran a story.

Screen Shot 2015-10-07 at 11.39.40 AM.png


Smarter Lucas?

In the last 3 weeks or so we've noticed Lucas seems more aware, more responsive, more capable. Granted this are tiny gains but clearly gains. He's more interested in toys and TV shows. He plays a hide and seek game when his mom says "Where's Lukey?", he tries to burrow his head down into a hiding spot or cover his eyes his his arm. When someone says "Look who's here Lucas" he searches for the new arrival. He's more interested in toys and a bit more capabe of grabbing them.

It seems like a rather sudden gain in abilities. But here's a theory. About three weeks ago we introduced a daily laxative to relieve his chronic constipation. It worked. Before that the constipation would exhaust him daily as he struggled. It had been a problem since September. So maybe when the constipation was relieved it left him with more energy to use on other things.

 

Julian at the Panera Bread

Another piece written for The Mighty.

 

A Panera Bread Employee’s Simple Remark Turned Our Dark Day Around

This is the story of how someone we didn’t know turned one of our toughest times into one of our best days.

When you have a child with Menkes disease, you spend more time than you’d like in the hospital. At its best it’s stressful; at its worst, I’m ready to bark at people for the tiniest misstep. How could they be so insensitive? Do they not know what I’m dealing with? I’m in the ICU of a hospital; isn’t that enough of a clue?

Even on a good day, people can say the wrong thing about my son, Lucas, and set my fingers to white knuckled claws. It’s easy to say the wrong thing. Too easy. Talking to us about our son can be a trap. My wife and I know that’s unfair. Not surprisingly, a whole lot of people avoid talking about Lucas. They want to stay clear of the trap. But then we resent them for ignoring our precious boy. Trapped if you do, trapped if you don’t.

I can’t even recall the reason for this one particular hospital stay. I think we were finding out Lucas wouldn’t be able to eat by mouth anymore. He’d need surgery for a G-tube. He had massive bladder diverticula. Two bad news whammies on the same day. Tensions were high; our moods were grim.

One of the minor problems with spending too much time in a hospital is eating too many meals in the hospital café. We’d worked our way through all the menu items more than once. If we had the luxury of more than a few minutes to eat, we could cross the street to a sports bar, a Starbucks, and we heard they’d just opened a new Panera Bread. On that day, we had time between appointments and Lucas was cleared to leave the building, so we eagerly tried the new dining option. Luckily, everything went smoothly. Had some one messed up our order, we would have snapped.

As we sat with our meals and Lucas in his wheelchair, we did nothing special. I think we hardly spoke. We were too spent. Maybe we doted on our boy a bit more than usual. A young man who worked there came over to us to say something. It wasn’t his job. We’d already been served by someone else.

“I just want you to know I have a little brother with special needs, and I think you guys are doing a great job.” That was it. One perfect sentence. I almost cried on the spot. I’m crying now, three years later, and have every time I recall it. His name was Julian. He didn’t fear the trap. Maybe he sensed how much we needed a boost. Maybe he still had the fearlessness of youth. He might have been 20 years old at most but seemed to have more maturity and perspective than my wife or I at twice his age.

He said a few more things about what it must be like for us. And he got them all right, on key. I managed something in the way of a compliment like, “You saying that made my day.” And then he shared that he too spent a lot of time at hospitals. His younger brother has a rare condition called Dandy-Walker syndrome. And it all made sense.

Yes, he was a stranger, but he was one of us. He’d walked our road. No wonder he could avoid the traps. He turned a dark day into one I’ll never forget. I’ve seen him there since, without my son at my side, and he remembers and asks about Lucas by name. It was such a small thing with such a huge impact. All he really did was let us know he knew our path was rocky and he thought we were doing well on it.

How Parenting a Dying Child Changed All My Expectations

I wrote this piece for The Mighty.

In April on the one year anniversary of The Mighty, founder Mike Porath, listed 4 of the stories that stood out for him in the past year.  Two of them were by me, and he mentioned the Menkes Documentary.

In May this story was awarded Story of the Year by Global Genes - Rare Daily.

How Parenting a Dying Child Changed All My Expectations

Daniel DeFabio

When we had a child on the way, we said we were expecting. What we expected was a healthy, happy, “normal” baby. When our child was born, we never really stopped expecting. We expected him to crawl, walk, talk, do well in school, get a good job, find a nice spouse, bring us grandchildren, perhaps care for us as we age.

Once we learned my son Lucas’ diagnosis of Menkes syndrome, all those expectations went out the window. It was devastating. But it was also liberating. We had to learn that any disappointment we felt was due to comparing our new reality with our imagined future. It was never hard to see him as the wonderful, shining boy who was full of joy and laughter. What took a bit of work was changing our mindset away from the wonders (or terrors) of the future to the happiness in the here and now.

Lucas has given us special permission. Permission to live for the moment. What we had was Lucas and each other and later his younger brother. In any given moment, that alone was precious. Lucas showed it to us. Not just with his bright, gleaming eyes. Not just with his ear-to-ear grins and deep chuckling laughter. Despite his limitations in communicating, he’d actually take us down a peg or two when we got off the path. Without fail, if my wife, Tina, or I was working too hard to the point of grunting and grumbling, Lucas would laugh at us. Instantly we’d be transported back to the big picture of the wonders of now. Smack your head against a cabinet? Lucas laughs at you, and you remember it’s not such a tragedy. Ditto for hitting your thumb with a hammer. Let some untidy bit of food fall from your mouth and Lucas would launch into peels of throaty laughter. It didn’t seem like too much over-interpretation to decide Lucas felt superior to us. We the able-bodied, who had to stuff food into our mouths and exert ourselves to try and bend furniture or the world to our wills. What silly struggles the rest of us have. Not Lucas. In some ways he strikes us as a more pure being.


Lucas can’t walk or talk or sit without support. Lacking the capability to do much at all means he can’t do really anything wrong. He never steals a toy from his brother, he never hits anyone, he never lies. Run down the list of sins; he never does any of them. Instead he’s an almost constant source of smiles, laughter and joy. It’s hard not to view that as some kind of distilled existence.

I know I’m romanticizing what to others observers is a cruel disability. Few people know better than we do how terrible a disease like Menkes is. In dark times I allow myself to imagine, to go back to old expectations, to try to envision a Lucas that might have been, if only. But that isn’t the boy we got. We got the one who never disappoints us. We got the one who has never once been less than loving to us. We got the one who made us see the world as a better place, one we might make even better if we try. We got the boy who’s turning his little brother into one of the kindest, most considerate children we’ve ever known.

With Lucas, it seemed we the parents needed to rise to meet his expectations. He expected nothing too difficult, but it amounted to an entire life shift. He expected us to be with him. As close as possible, as often as possible. That’s all. And that is everything.

When Lucas was born my wife and I asked aloud several times how did we get to be so lucky to have the greatest boy in the world. We still ask that question.

2014 Year end update

Lucas update late 2014

In May 2014 Lucas had a painful incident with fever. He went to the ER at Saratoga Hospital and discovered his right hip was not permanently dislocated. (For about 1 yr prior it chronically popped out and back in with no apparent discomfort for him).

In June or July hip and spine surgery were discussed with Dr. Karl at Albany Med but he was inclined against.

In September a sine surgeon at Albany Med was more aggressive in recommending both surgeries but later backed off those recommendations. Perhaps after hearing Lucas was in no (noticeable) pain and his life expectancy was short.

In November we saw Dr. Shure at Boston Children’s for a third opinion.  We are still awaiting consults from his colleagues in Spine and Nuero.

September was also the start of kindergarten at Gordon Creek with a longer school day. Also the short bus ride meant Lucas no longer napped on the ride home. Possibly as a result each night at about 6:20 he’d grow irritable and 6:30 became his more routine bedtime, where as 7pm had  been his bedtime til now.

Also in September we noticed a consistent pattern of difficulty pooping. He tended to be constipated and struggling for 2 days and then the flood gates opened sometimes with diarrhea for 1-2 days and then back to constipation and it repeats like that.  We introduced a little apple juice to his daily routine and that seems to minimize the constipation.  It’s only a guess but Doctors and nurses support my suspicion that his severe spine curvature is compacting the space for his bowels.  If not that, or maybe in addition to that, he may be losing some abdominal muscle strength.

Outside of the above he had a very happy year, with more smiles and laughs than any other mood.

Although in December he was sent home from school the Friday before Christmas with a slight fever and just general discomfort. Over the next days and weeks we saw minor cold symptoms and some digestive trouble.  He wouldn’t tolerate his full feeds for a few days.  It wasn’t until Jan. 4th that he snapped back to his smiley self.

Make a Wish

Blowing out the candles on a birthday cake has changed for me.  Make a wish.  Hmm.

There should be only one wish I could consider making.

You've seen that internet meme -- people with cancer have only one wish: a cure. It's hard to know what to wish for with Menkes.  Of course a cure.  But a cure helps the next generation of babies that get this disease. A cure discovered today or tomorrow doesn't really help my kid.  How could it?  At best it could halt any further degeneration.  But it won't reverse any damage so far.  I love Lucas the way he is. If some miracle allowed him to start developing more normally at this point with so much harm already done, do we want that?  This is deep in the realm of fantasy, but if he could start making gains at age six, would he walk and talk? Would his life become any easier or just a different kind of difficult?

I suppose a more realistic expectation, if a cure came today, is that his general health might improve as he processed more copper, even if his mental and muscular abilities didn't see much gain. This might allow him to more safely endure any necessary surgical procedures.  But he's actually proved pretty resilient on that front so far.

So yes I wish for a cure.  But it's not precisely what I wish for Lucas.

Even in the sense of Make A Wish as in The Make A Wish Foundation, it's hard to know what to wish for. Lucas would certainly qualify for a wish. But he can't communicate his own wishes and it doesn't seem quite right to just pick one for him.  What he loves most is to be home or some other very familiar place surrounded by family and close friends.  We do that a lot. He laughs and smiles. It's as good as it gets. If I want to give Lucas the happiest time he's ever had I only have to roll on the floor with him. He doesn't dislike theme parks or stage plays or movies but they aren't as interesting to him as a crowd of loved ones fawning over him.

Dancing might come close.  Weird for a wheelchair kid right?  But when I wheel him around in tight fast circles and spin the chair, that's some grade A fun for him.  We should do more of it.  It's tougher in winter.

We're pretty sure he loves toy duckies and the colors bright yellow and orange.  Some puppets crack him up, recently a Doctor and Nurse puppet that his school nurse Barb gave him.  But in terms of the organization Make A Wish, I can't even phrase it for them...We'd like Lucas to go somewhere with lots of plush yellow and orange duckie puppets, with several friends and family.  Maybe that's a good wish for him. But I bet we could do it in the backyard and have him enjoy it even more.

So this month I wasted another birthday candle wish with one more "I don't know...um, let Lukey be happy."  I guess I wasn't supposed to tell my wish, but it's come true so far.

 

Every day.

Every night is tinged, if not saturated, with dread. Lucas could die before morning. There isn't much to do with that knowledge. We've mostly given up on checking on him overnight to be sure he's okay. We're fortunate that he sleeps without incident for almost 12 hours every night. If he has a cold or some symptoms we might check on him as he sleeps.  But often we're almost equally afraid we'll wake him, or find him awake and our interruption will set him to crying.

Not quite every morning, maybe half of them, the dread creeps back as I delay going into to his bedroom.  What if today he's not alive?

But the opposite emotional episode occurs each morning when I wake Lucas up. He (almost always) beams his huge smile at me, and I get to celebrate that he is with us one more day.  We hear all the time that we should live each day as though it were our  last, and focus on the now.  It hard to maintain that mental disposition but Lucas ensures  my mind starts there every morning. Some days I hold on to it longer than others.

 

Lucas had a rough April missing almost 3 weeks of school but has been very healthy (for him) since. He spine curvature seems to have gotten progressively worse since I first noticed it in October.

November: Menkes Disease Awareness Month

My boy has been doing his part to increase awareness of Menkes Disease.

His speech therapist used her experience with him to inform other speech professionals  on this blog: Smart Speech Therapy

And that led to the blog's hostess discussing Menkes on a podcast for speech therapists at about 25 minutes in here: Teach me to Talk

And to wrap up the month, he will be the grand marshal of our hometown Holiday Parade and that will also call attention to Menkes.

Some of the press on that: Times Union, WGNA, Saratogian, Look TV, YNN TV, and News 10 ABC (not available online), The Ballston Journal.

Palliative Care

During this week's hospital stay we were introduced to the Palliative Care team at Albany Med. They are careful not to describe their service as "end of life care" counseling. And in fairness they are useful apart from that aspect. I think though it's safe to characterize them as: additional care consideration with a view toward end of life concerns.  How's that for diplomatic? 

It was a nice relief to have a long conversation with them. One concern I have during hospital stays is the difficulty with finding one doctor with the overall big picture view given a host of specialists become involved, each concerned with mostly their own area. Add to that the rotation of doctors on duty and the idea of continuity of care can be elusive.  

The palliative team might end up serving as a more consistent top level view for Lucas' on going condition in addition to the pressing emergent issues that come up. 

I brought into our discussion the ideas I recently posted here under: The theoretical and the now. I think they were glad I raised the issue before they needed to find a gentle way of broaching it.  They seemed very familiar with the debates family members have as to what is an extreme measure. They were encouraged to hear of Tina's and my rather detached logical view of the path ahead. (But again we're logical now, when it's a more distant possibility.)

Even if this week's episode resolves as well as possible it's hard not to see it as the begin of a deterioration trend. 

Ambulance ride to the ER

On October 1st we had our first episode of emergency care for Lucas.  Prior to this he had been hospitalized only at birth and then again in June 2011 for the "elective" surgery of Nissen fundoplication and adding the g-tube.  But on Oct. 1, 2013 his school called an ambulance and me because of shallow breathing, pale coloring, and temp of 102.  EMTs arrived before me and found his blood Ox at 80.  We went to Ellis Hospital where care was limited to Tylenol, Motrin and oxygen.  A chest x-ray showed pneumonia, a partially collapsed left lung, and what seemed like the stomach escaped through a hernia in the diaphragm to crowd that lung. They had too hard a time getting an IV in and we were transferred by ambulance to Albany Med.

He was 7 days in Alb Med. He had internal bleeding high in the GI tract or from the stomach.  It was determined his fundoplication had come undone and breached the diaphragm as in hiatal hernia cases. His temps reach a high of 104. He lost 1/4 of his normal blood.  A unit of blood and Nexxium fixed that. The added fluids created fairly severe edema of hands, feet and a second chin. Lasix remedied this over the course of 2 days but not before the added fluids showed in his lung (bronchi?). His potassium levels were low. Potassium supplements will now be part of his care.

He is home for a couple days but will return to Alb Med on Friday for a re-do of the Nissen fundoplication and possible repairs to the diaphragm. 

Unrelated, but discovered during this hospital stay, his right elbow chronically dislocates in two places.  This seems to cause him no discomfort and so we may leave it untreated. 

The theoretical and the now.

My wife and I agreed early on in our journey with Lucas and his disease to forgo any extreme measures to extend his life.  But I wonder if those decisions will all come upon us so gradually as to never seem extreme at the moment. Doctors seem to always advocate the next procedure that will "help".

So far he can not urinate, so we catheterize him.  He can not swallow, so he has a mic-key button in his stomach and we hook him up to a machine for each meal of liquid protein formula.

Neither of those seemed very extreme then or now.  But do only distant possibilities seem extreme?  As we approach them do they all seem necessary, reasonable, responsible, required?
If it becomes time for a machine to help him breathe will we remember we once considered that too extreme?

And you can bet it will be sneakier than that.  At first we'll need a machine just PRN, as needed, to get through a tough cold. And that will be reasonable. But days turn to weeks and does a moment come where you never decided to have a machine do all his breathing but he now seems dependent on it?

All these thoughts are too much like predicting the future and I should know better. But there is also preparing for the future.

 

We be illin'.

Dad and the two boys got a nasty stomach bug last Saturday.  Lucas got it first on Thurs. or Friday probably. But he was better Sat. and then worse Sun- today.  Yesterday it got a little scary. He couldn't tolerate any formula at even a rate of 5 ml/hr. (He's tube fed only.) We switched to Pedialyte and even that cause him too much distress.  We saw the Dr.  Not much to be done but try to coax his amounts of food up gradually.  He's lost 6 lbs. down from 36 to 30.

Van down.

Around May 11 something odd happened with our accessible van.  Not odd flat out scary.  We got it in OCt. 2012. For sometime we'd notice the door and ramp might stop halfway while opening or closing and reverse course. There's not much to do but hit the button again and let it reverse again.  So this time we're parked in front of a friend's house ready to visit a museum when the door and ramp go into stops and starts until the door somehow explodes out the window behind it.  The back corner window not the one on the door itself.  So we were without the van for a week while that was fixed.  A huge reminder of how much we rely on that for Lucas.  It was determined to be related to the VMI conversion --the stopper was in the wrong position on the track for the van door-- so the repair didn't cost us anything.