Someone Like You

October 10, 2013 at 12:34 pm

Jealous isn’t the right word; neither is envy–because no one should feel jealous or envious of people affected by rare genetic diseases. But I’ve always felt a longing for the kind of community that some of my friends in this rare genetic disease world have. Even people with rare diseases can find others who have the same condition, to learn from them, laugh and cry with them, and feel like they know others who understand what they are going through. But our family affected by Schwartz-Jampel Syndrome has felt very alone.

This blog and some of my medical writings have led me to six –yes, 6–families with SJS over the course of many years. No family has been geographically close—until we met Annie and her 14 year old son Jack last March through cyberspace. And it turns out they live only a few streets away from my closest college friend. Our world immediately changed.

Ben and Jack, October 2013

Ben and Jack, October 2013

This past weekend our two families impacted by SJS met. All week I had been asking Ben what he might want to ask Jack about. In Ben’s normal 12 year old self, he said “nothing”. Me? I wanted to know everything. What does Jack like to do? How does he move around? What has Annie done to their house to make it accessible? What do they think every day of their lives? Does Jack make jokes at medical appointments, too?

When we rang their doorbell at 3 pm last Sunday and we first saw Jack, I wanted to swoop in with a great big hug, he seemed that much like my own son. I thought of my fourth grade teacher’s remarks on my report card: “Rani lacks self-control”. I couldn’t let this be my first impression.

We met Annie, her husband, Jack, and his older sister. We saw Jack’s ultra cool wheelchair that he takes to school, and Ben got a chance to try out the walking sticks that Jack uses to get around the house. These turned out to be too difficult for Ben, but it was worth giving them a try. Charlotte immediately felt at home by bouncing on furniture (to my dismay) and playing with their dogs. Lucy and Jack’s sister stayed with us, taking it all in. It was their first meeting of SJS siblings, as well.

Before long, it became clear that Jack and Ben are two peas in a pod. They both love video games, computer programming, reading and both are studying difficult languages in middle school. Jack is perfecting Chinese; Ben is learning Latin. We even learned that Jack has the same incredible distaste for Augmentin as Ben. And boy, do they both have the wittiest, driest senses of humor. Jack said so many sincerely funny things that we were holding our sides from laughter pain. We could have talked to him for days.

Over two hours we discussed the pros and cons of side versus rear entry wheelchair vans, the benefits or not of Tegretol, Baclofen and experimental medication such as Mexiletene to deal with myotonia, Ben’s upcoming spinal rod lengthening surgery, and physicians at some of the world’s top medical facilities. We realized our families both use humor as a way of dealing with the things thrown at us each day.

It felt like we’d known each other forever. My only longing now is for the next visit. It can’t happen soon enough.

By Rani Elwy | Posted in Family, Schwartz-Jampel syndrome | Tagged , , , | Comments (34)

A Tale of Two Agencies

August 7, 2013 at 9:41 pm

On Ben's birthday last week, a birthday he shares with Harry Potter (July 31), he should have received his letter via owl inviting him to join Hogwarts School of Witchcraft and Wizardry in the fall. Instead, he received a barrage of snail mail from the Office of Medicaid (aka MassHealth) from the Executive Office of Health and Human Services in the Commonwealth of Massachusetts. These letters did not congratulate him on his admission to Hogwarts. These letters threatened to, and then eventually did, cancel his MassHealth coverage.

Ben celebrating 12 years with his favorite carrot cake (and dad)

Ben celebrating 12 years with his favorite carrot cake (and dad)

We were away, first in Montreal, and then in northern Vermont, having a wonderful family vacation and basking in the ability to do so, since Ben's recovery from the spinal growing rod surgery allowed us to unexpectedly travel this summer. On our return home, voila, there these letters awaited. According to MassHealth, I had exactly one week to get together all the documents I previously sent them in April--during Ben's surgery and recovery--that they claim I never did. Lucky for me, I had confirmation of delivery via signature. I patted myself on the back.

"We tell people not do that" said the MassHealth customer service person that I actually got on the phone, after TWO HOURS of pushing buttons and being on hold, when I explained that I had confirmation the documentation had been delivered. I said "Of course you do, because then someone like me can't tell you that these forms and documentation were sent in before". I was promptly hung up on.

I found another person, who, after patiently listening to my story, tried to help, but I must have topped her frustration level, because she told me she needed to put me on hold and then.... a dial tone. I lost that friend too.

What we need to remember is that Ben qualifies for MassHealth because of the Kaileigh Mulligan waiver, which I've written about before. This allows for children who have a lifetime disability that is equivalent to an institutional level of care to receive Medicaid even if their family's income is over the federal poverty limit. Ben has had MassHealth through the Kaileigh Mulligan program since 2006, when he underwent surgery for a tracheostomy. MassHealth pays for his nursing services, critical to him attending school (he can't without a dedicated nurse) and for us working--and thus paying taxes, which in turns pays for MassHealth. It's a productive cycle.

However, even though family income doesn't count towards Ben's eligibility (which is based on our documentation of his health status that we send in each year), we still need to provide evidence to MassHealth that Ben does not have assets over $2000. He doesn't. He has nothing. We closed his savings account last year, and cashed in the bond he received as a gift at birth, because it became so complicated to keep providing this financial information, year in and year out. We just keep cash under his mattress (kidding!). However, MassHealth needs to determine his share of our family's health benefits. So we need to tell them how much we pay bimonthly for health care insurance (which is good, because that means MassHealth pays for less), dental insurance, and in our case, vision insurance. This was the hold up. Apparently, they claimed, they never got documentation that we pay $11.10 twice a month for vision insurance. This is what I turned in in April.

Feeling the love from those Vermont Creemies!

Feeling the love from those Vermont Creemies!

So I promptly faxed in the statement indicating this $11.10 is paid semimonthly. That was on Ben's and Harry Potter's birthday, July 31. MassHealth's phones were then out of order for the rest of the week; thus I could not confirm that all was now well. On Saturday, August 3, I received a disenrollment notification. I tried calling Monday. The phones still didn't work. I spent another 2 hours pushing buttons, and did find out that through the automated system that he appeared to still be enrolled. Today, while driving to pick up Lucy and Charlotte from camp, I reached another human. She claimed to not have received the fax.

I pulled over, whipped out the paperwork that is now permanently part of my purse, and read to her all that I faxed. It took at least 10 minutes to process the $11.10 twice a month vision payments. Lucy calls me to ask why I am late for camp pick up. The caseworker eventually tells me that Ben is now approved and re-enrolled. I ask for documentation in writing to state this--I mean, they've been sending me notices each day, what is one day more? But apparently they can only send negative notices. Positive notices, such as Yes You Have Coverage, cannot be generated.

I pick up Lucy and Charlotte from camp. I get home, check the mail, and sure enough, MassHealth has not let me down. I have another notice, which tells me that I have until August 29 to provide the documentation on the vision benefits. I can't even cry or complain, I just add this to my ever growing pile of papers in my purse.

I've been meaning to talk to the Medicaid Director for years about these issues, and I decide that now, right now, is the time I will do so. I've just checked the website, and, guess what? He's gone. He was there Friday. Now there is an Acting Director. I know why he left. I would too.

My conversation with him was going to be: I have a son who is permanently disabled. In fact, his condition is progressive, so each year it is worse. Yet each year you make me document just how bad it is and how it will always be bad. On top of that, you've made sure he will never have any credit rating in his life because you make collecting all these financial forms such a nightmare. And when I do send them in, you tell me I haven't, even when I have proof that I have. You don't want me to have proof. You get mad at me when I have proof. I send them in again anyway. You ensure the phones are down so that I can't talk to a human. But I can't talk to a human when the phones are up, not easily anyway. WHY DO YOU DO THIS TO FAMILIES LIKE OURS WHEN WE HAVE SO MUCH GOING ON? And, oh, by the way, I have a PhD and I teach health policy and this situation kills me year after year and what the HECK do you think this is like for people who don't speak English well or don't understand the system , if you can call this a system??? &%@$#*!!!

But now I will have to wait to have this conversation until another Director is appointed. Perhaps I will be calm by then.

Yet, there is good news. While traveling, we realized that Ben's disability parking placard was set to expire in September. I sighed and made a mental note to get a letter from the pediatrician that I could send in to the Department of Transportation, with the requisite application, documenting that he is still indeed disabled and we still need this parking placard. But when we returned, in addition to the MassHealth letters, we also had a NEW, UNREQUESTED, parking placard, miraculously sitting in our mailbox, proactively authorized for another 5 years, with no paperwork, no calls, no tears, no frustrations. Just complete efficiency on the part of DOT, who said, yes, this person will always be disabled, let's just send this out. I am in complete awe, and full of sincere gratitude.

There is always a silver lining somewhere. Now maybe that Hogwarts letter will arrive after all!

By Rani Elwy | Posted in Advocacy, Bureaucracy, Health Insurance, Health Policy and Management, Schwartz-Jampel syndrome | Tagged , , , | Comments (72)

Summer Internal Drive

July 13, 2013 at 12:21 am

Summer. Many people think beaches, day and sleep away camps, fun in the sun, freedom and independence. This is true for Lucy and Charlotte. But when I think of "Ben" and "summer" in the same sentence, I literally sweat. I think about the availability of beach wheelchairs, and camps that provide the right mix of fun, challenge and accessibility. Sensitivity to sun brought on by Ben's medications makes me worry about sun exposure. Independence--there is nothing Ben would like more, but like it or not, he needs to have someone-- a nurse, a family member or a personal care attendant--near him. Freedom is hard to get when you feel like you have a shadow. Ben has lots of shadows.

But when the third week of May arrived and Ben was back in school full-time, something we didn't think would happen so soon after his spine surgery, I thought "OMG, Ben needs a summer plan!". I thought he would have no choice but to be bored at home, recovering. So I quickly got to work with my planning.

Ben playing his newly created game, The Legend of the Mage

Ben loved the Museum of Science camps on video game and web design he attended last year, but I thought he was ready for a bigger challenge. I had researched iD (internalDrive) Tech Camps, based in California and hosted at university campuses throughout the country. They offer computer programming and video game design classes (among other things) for kids 7-18 years old, so I knew challenge would be inherent here. But would they be as welcoming and accessible as the MoS had been last summer?

Ben with the Awesome iD Tech Camp staff at Bentley University

At the end of Ben's week at the Role Play Game Design with RPG Maker class at the iD Tech Camp held at Bentley University in Waltham, MA, I can wholeheartedly say "YES"! From Assistant Director Clymb's call on Sunday to discuss logistics, learn about Schwartz-Jampel syndrome, plan for Ben's arrival on Monday and his daily feedback to us; to Mega's masterful and engaging teaching; and KingPin's hearty welcomes every morning (these are screen names, of course), this experience was truly inspirational. Let me count the ways:

1. Ben actually talked about his camp days with us. Not with excited hand gestures like the women in the family, but he told us about his design plans. Cool.
2. He worried he wouldn't finish his game in time. Ben always worries. But the fact he was worrying meant he was challenged. Also cool.
3. Ben was surrounded by goofy, techie, curious, people who are just like him. People who appreciate that he knows exactly what song is played at what level in which Zelda game.
4. These kindred spirits who surrounded Ben all week accepted him and became his friends. I witnessed it today. I didn't sleep on Sunday night because I was worried about just this sort of thing not happening. More of these experiences will be good for both Ben and me.
5. We now have a new, Ben-designed, faux Zelda game called "The Legend of the Mage"--you'll have to visit to play it!
6. And when Ben enters a new 7th grade class of middle school students in September, he can show them what he accomplished this summer. Video game language is as important as English for making new friends.

But the best thing was the diploma ceremony at the end of today's session, where Mega said something unique about each of the 8 kids in his group (gotta love that low student-teacher ratio!). When it came to Ben, he told the group of parents and kids how clever Ben was, but Ben wouldn't let Mega read the personal remarks Mega had written to Ben on the diploma. I only learned what was written when I privately read the diploma later. These words, and how they made me feel, will be fueling my internal drive for many moons to come. I hope they do the same for Ben.

Ben, you are an amazing person. You are incredibly charming, nice, funny, and caring. You are a lightning rod of happiness, and you brightened everyone's week. You are a paragon camper, and I am so glad to have met you. I hope the rest of your summer is as spectacular as this week was for me.

iD Tech Camp, Ben will be back in Summer 2014!

By Rani Elwy | Posted in Education, Schwartz-Jampel syndrome, Summer Camp | Tagged , , , | Comments (8)

You’ve Been My Shelter

June 21, 2013 at 10:30 pm

Life has become so normal so fast. A week ago, Dr. Emans said that the outcome from Ben's surgery was "phenomenal". Ben no longer needs me, or anyone else, on a minute-by-minute or even hourly basis. So, I'm back to traveling, for work and sometimes for fun. But let me tell you about the first weekend in June.

The LOVE I've been feeling, Kripalu, June 1, 2013

The LOVE I've been feeling, Kripalu, June 1, 2013

I’m driving down the Mass Pike, returning home after a weekend spent with my college roomie Laura at our nearly annual Kripalu yoga and meditation weekend in the Berkshires. I have tears streaming down my face as I listen to all the best, and old, music on my iPhone blaring out at me through Bluetooth.

The weekend rejuvenated me, as does any good weekend spent with a terrific friend. But it also gave me the space and time to relax and let the stress of the past months disappear in the sweaty yoga studios, in my gazes across beautiful lakes, in my walks through forest trails around Tanglewood and in the serene surroundings of the former monastery.

As I'm listening to the Housemartins I realize that they are completely summing up for me how I’ve felt about all the help, support, love, and wonderful wishes I received during the time leading up to, during and after Ben’s spine surgery.

Ben not missing me when I was away! June 1, 2013

I tried to reply with not very glamorous emails to everyone who reached out to us, but it hasn’t felt like enough. Yet, I didn't know how to put into a legible thank you note just exactly how your thoughts and gifts—whether they were prayers, meals, cards, pictures, blankets, wine, books, magazines, balloons, coffee, cookies, toys, phone calls, emails, texts, Facebook posts, tweets, visits, gift cards or responses to my specific cries for help with Charlotte and Lucy—have impacted me.

I was lifted up and carried when I didn’t think my legs could take me much farther. I was given a huge squeeze when I felt very alone. I heard your strong voices telling me we could get through this, and these voices erased all elements of self-doubt I was experiencing. And I'll summon all of these gifts you've given me again for Ben's next surgery, on October 17, and for many surgeries beyond.

But let’s have the Housemartins tell you what it was really like. You need to crank up the volume on this to get the right effect. And you have to imagine me, in my Volkswagen, alone, just past Northampton, listening to this song for the first time in a very long time, and hearing all of you say to me:

In times when you’re troubled
Seems more than you can afford
And you feel, you feel you need a friend
Someone to share the load

And when your skies grow cloudy
I want you to know got a friend that’s true
Just like a shelter, in a time of storm
I’ll see you through, that’s what I’ll do

When your dreams are scattered
Just like the wind blown sand
And you feel, you feel you need a friend
I’ll be there, reach out your hand

And when the tempest is raging
I want you to know got a friend that’s true
Just like a shelter, in a time of storm
I’ll see you through, that’s what I’ll do

I’ll see you through your bad times
I’ll see you through your fears
I’ll see you through your hang ups
Honey I’ll dry all your tears

Thank you, so much, for reaching out your hands. We couldn't have made it through without you.

By Rani Elwy | Posted in Family, Schwartz-Jampel syndrome, Surgery | Tagged , , , , | Comments (64)

Ben’s Road Traveled

April 22, 2013 at 10:39 am

Two roads diverged in a wood, and I,
I took the one less traveled by,
And that has made all the difference.
--Robert Frost

It’s been 18 days since Ben’s surgery at Boston Children’s Hospital, which involved attaching titanium rods to his T1 and T12 vertebrae to create tension to straighten his thoracic spine. By all accounts, and despite some unexpected issues with Ben’s bones, the surgery was spectacularly successful. Ben’s scoliosis has been dramatically reduced from 75 to 25 degrees, and this improvement should become greater with every successive spine surgery he has, every 6-9 months, as the rods are extended to allow for spine growth and the tension to straighten the vertebrae increases.

Ben's sisters visiting in ICU, April 5, 2013

To say the words “spectacularly successful” following any of Ben’s surgeries is a wish I never allow myself. My coping strategy is to prepare for the worst, and then be pleasantly surprised if that doesn’t occur. But the best? I never prepare for that.

What’s been even more spectacular is Ben’s rapid recovery. Each surgery is a road newly traveled for us; it’s impossible to know what to expect, because no surgeon, anywhere, is able to tell us “well, on the last 20 children with Schwartz-Jampel syndrome that I performed this surgery on, this is what it was like”. Because there aren’t enough people with SJS to know this. Because not one physician that Ben sees has another patient with his same condition. I can’t say that every child with SJS would recover from spinal growing rod surgery as well as Ben, but at least it’s one data point.

So each significant surgery is novel, because it’s done on Ben. It’s risky, it feels like an experiment, and the outcomes are largely unknown because Ben is the guinea pig. Only 8 days before the surgery, because I took Ben to see his hip surgeon, the spine surgeon and hip surgeon started discussing the growing rod impacts on Ben’s hips. The hip surgeon and the physical therapist thought that the rods should not be extended into the lumbar spine, because then Ben would no longer be able to sit. Only 2 days before the surgery, our extended team made a definitive plan that only the thoracic spine would be operated on, a lumbar brace would likely be needed to address this part of the scoliosis that isn’t being treated, that when Ben is between 16-18 years old he should undergo a total hip replacement, which would give him enough flexibility in his hips to sit once the lumbar spine was fused with the thoracic spine, following the hip replacement.

Ben's growing rods

It was a 6 month conversation condensed into a few days. It felt very uncomfortable, but at least it happened.

Our road traveled has led to us becoming more insistent that doctors talk to one another, as was amplified during Ben’s hospital stay. When blood-tinged mucous started coming out of his trach during post-op suctioning, something that had only happened twice before, I insisted that Ben’s otolaryngologist (ORL/ENT) doctor be called. When Ben’s breathing became rapid and fierce, I called his pulmonologist directly, to bypass the critical care team who wanted to handle it all by themselves. When the pulmonologist and ORL docs, who have been caring for Ben for nearly 11 years, visited him in the ICU, the attending said, “I didn’t know Ben had so many friends”. Yes, they feel like friends, but more importantly, they know his baseline, what our family is capable of, and they can judge his decline and his recovery needs in a more accurate way as a result of this knowledge. Why not bring them into the picture?

I teach a session on care coordination in my PM755 class to BU School of Public Health students, most of whom are working towards their MPH. It’s a class where I introduce Ben’s needs and our family. I first tell the students about the goals of care coordination, why it is needed and the innovations that exist as part of the Affordable Care Act. But then I need to introduce them to reality, and examples like the one above illustrate my point. My goal is not to make every parent, sister, son, daughter, brother a patient advocate (although that would help); my goal is to illustrate all the reasons why care coordination is such a difficult concept to achieve, even in our nation’s best hospitals.

Having a little hospital fun

Ben’s future now involves traveling down a 5-7 year road of repeat spine surgeries for extending the rods (Ben hopes for every 9 instead of 6 months), and once he is no longer growing, a total hip replacement, followed by a definitive fusion of the thoracic and lumbar spine. But we can’t take our eyes off Ben’s knees, elbows, wrists and eyes, and as always, his respiratory status is vulnerable and needs our attention too.

High school will have some ups and downs, for certain. But right now, we’re looking forward to getting Ben back to middle school, where he can finish up a fantastic 6th grade year, return to the band, and hang out with his friends. We are so thankful that his recovery road, this time, is so much shorter than any of us, including his surgeons, imagined.

By Rani Elwy | Posted in Advocacy, Family, Schwartz-Jampel syndrome, Surgery | Tagged , , | Comments (12)

@BraveBenE

March 23, 2013 at 5:35 pm

Ben at Sandbridge Beach, VA, 2 days after learning that spinal fusion surgery was coming up

Ben hasn’t had surgery since November 2011—almost 1.5 years ago. 2012 was a surgery free year! But on April 4, 2013, that will all change, when Ben undergoes insertion of growing rods along his entire spine to help address his severe scoliosis resulting from Schwartz-Jampel syndrome.

Over the last 10 years, Ben has been cared for by Dr. Emans, Spine Director of the Orthopedics Department of Boston Children’s Hospital. Each year Dr. Emans would examine Ben and say “the curve isn’t bad enough, but when it gets to be 55 degrees curved, we’ll have to talk”.

On August 10, 2012, when Sherin and Lucy were on a plane home from their fairytale Olympic London trip, I was with Ben and Dr. Emans looking at some pretty curvy x-rays of Ben’s vertebrae. Dr. Emans announced that the curve was now 61 degrees. He said “I don’t want to do this surgery, but I have to do this surgery”. It sounded all very non-negotiable.

But negotiate I did. Ben was about to start 6th grade and a new school. In our public school system, this is the biggest transition in K-12. We have 7 elementary schools that feed into one middle school at 6th grade, which then feeds into one high school in 9th grade. I knew how important it was for Ben to make a good first impression with his new classmates and friends. I didn’t want him to be the sick kid who would have a significant surgery right after school started and miss 2 months of school.

So I used the social-emotional development argument, and with a strong pulmonary function test (PFT) result in hand, we got the blessings of both Dr. Emans, and pulmonologist Dr. Haver, to wait until Spring. Dr. Haver insisted the surgery take place after March (all that influenza in hospital would not be a good thing for a surgery where one of the biggest risk factors is pneumonia)—but Ben also argued that he wanted to come back to school after the surgery. Since school was slated to end on June 26, we agreed that April 4 was a reasonable date to meet all these needs.

I was warned that this delay would lead to further spine curvature that could affect Ben’s lungs permanently—and indeed, his curve is now at 70 degrees—but it was a risk I had to take. The most recent PFT has shown the same results from August, so whew, I escaped the bad guy role on that one.

We gave ourselves permission to not think about this surgery until January, but since the first of the year, we’ve been making plans with Ben’s school, our work, and Ben has been undergoing many exams to get ready. His last exam is March 26—to check on the hips, which the rods in the spine will most definitely impact—and then voila, it will be April 2, my last day of work; April 3, Ben’s last day of school, and the day that Lucy and Charlotte go off to good friends’ houses for 2 days; and then, sigh, April 4.

Once again, we will find ourselves in that incredibly awkward position, of being upbeat and positive at 5 am as we drive to Boston, meet with the team, have casual banter with Ben and his surgeons (because the ophthalmologist and ENT will also do some relatively quick procedures at the same time), providing reassuring, calming and loving words to Ben as he undergoes anesthesia in the OR, silently but fervently uttering massive prayers for Ben and the wonderful, dedicated hands who will be taking care of him, and then waiting. Agonizing wait. 6 hours of wait. Oh, God, I dread that wait. All the while knowing the risks, the uncertainties of the success, and dealing with the knowledge that we are setting him up for repeat spine surgeries every 6-9 months, where the rods can be cranked to allow for additional spinal growth, until he finishes growing. And, at that time, another significant spinal fusion to end it all.

Writing is very therapeutic—just read Jamie Pennebaker’s work—and for this surgery, I plan on doing therapeutic and informational tweeting. Let’s see how succinct I can be as we update you on Ben. Follow us @BraveBenE while we give you our 140 character updates on happenings, thoughts, feelings, and more. It’ll be easier than signing in to Ben’s CarePage, and we can leave Facebook for the fun things. And tweet to us too—it will cheer us up!

And if you’re wondering why I am posting this when the surgery is still 12 days away—I’m traveling for work right now and have more time than I will next week when I take over being the solo parent. I always get more done when I’m out of the house! Plus I want to give you all time to connect with @BraveBenE on Twitter. Thank you!

By Rani Elwy | Posted in Family, Schwartz-Jampel syndrome, Surgery | Tagged , , , | Comments (61)

Red Carpet Reception

March 1, 2013 at 11:19 pm

Ben and Ms. Stabnick receiving their Acatemy Award

He wore stripes, just like many Dr. Seuss characters, but was missing a great big hat. But that didn't stop a standing ovation from the Sprague School community, as Ben wheeled his walker down the red carpet Friday morning to accept the "Hats off to Reading" award at Sprague's 6th annual A-CAT-emy Awards--the reading and awards celebration which occurs yearly on or near Dr. Seuss' birthday. Dr. S would have been proud.

Ben on the red carpet with Sprague teachers

Each year Sprague School honors a local author who has made a contribution to their community. This year they voted on Ben and his former, fabulous art teacher Jennifer Stabnick for the book created way back in June 2008, Ben's Busy Day at the Hospital. You've seen this before. We created a few books for Sprague's library since we hadn't had any luck getting it published for real, but apparently it's been a hot item. You can see a Shutterfly version below--enjoy!

Ben with his middle school teachers who took a field trip with us to Sprague!

Proud mama got goosebumps witnessing all that applause. Ben just beamed, with Ms. Stabnick at his side. Charlotte said "that's my brother!". Of course we couldn't tell her in advance. She is not known for secret-keeping.

Thanks to Ben's middle school teachers who not only approved him missing a class for this award, but who also traveled with him to enjoy the spectacle itself!

And what a great reunion it was of Sprague current and former teachers and Ben. What a lovely way to start the day!

Click here to view this photo book larger

Photo Book Tip: Create an adventurous travel photo album at Shutterfly.com.

By Rani Elwy | Posted in Advocacy, Education, Helping Behavior, Hospital appointments, Reading, Schwartz-Jampel syndrome | Tagged , , , , | Comments (4)

Iceland Pre-Op Adventure

February 24, 2013 at 4:13 pm

Ben is scheduled for spinal fusion surgery on April 4. We've known this was going to happen since last August, but willingly blocked it out of our minds until this year. Since January, however, we've had to face reality: we've had school and therapist meetings to prepare for Ben's 6 weeks away from school, we've scheduled necessary pre-op appointments and have successfully coordinated an eye exam under anesthesia just before the spine surgery takes place, and I've been working overtime so that I can more easily take time off work to concentrate on Ben.

But for this surgery, which will be number 24 for Ben and his most trying one to date, we added a very important prepratory step--that of a family trip to Iceland! We wanted to do something fun and different before something challenging and difficult.

Elwy kids at Keflavik Aiport map

Elwy kids at Keflavik Aiport map

Iceland in February sounded different (but fun?), and as one Icelander said to us, "as long as you can handle the wind and the sideways rain" you'll be fine! But we didn't expect the accessibility of a country of only 300,000 people, two-thirds of whom live in its capital city Reykjavik, to rival every other place we've ever been.

We visited the Sun Voyager in Reykjavik, to no avail!

We visited the Sun Voyager in Reykjavik, to no avail!

Upon arrival in Keflavik International Airport, Icelandair staff met us at the gate with a wheelchair for Ben and personally guided our family through immigration to the baggage claim. While getting our rental car, Thor, our first Icelandic friend, gave us a history of the country, told us key facts about certain towns and cities, explained all the movies made in Iceland, and told us where to take Ben.

The apartment we rented on Vatnisstigur in Reykjavik was an accessible dream, with wide, open areas and hallways, a roll-in shower, and not one step, anywhere, inside or outside the building. Elding Whale Watch Cruise staff took me on a brief tour of their two ships so that we could figure out which one would be most accessible for Ben.

On the Elding Whale Watch Cruise, Reykjavik

Separate, disabled bathrooms (favorite Icelandic word--snyrthingar) are everywhere, including the tiny Volcano House museum.

Slatted walkways allow visitors using wheelchairs or walkers to get close to Gullfoss, the gorgeous (but windy!) waterfall in the Golden Triangle.

Ben, Lucy and Charlotte brave the winds at Gullfoss, Iceland

City planners in Reykjavik have added stone ramps to every public area where steps abound.

Ben (and Sherin) loving the ramps at Austurvollur square, Reykjavik

I'm not sure if they use the words "universal design" in Iceland, but they epitomize it.

Sure, there were things we couldn't do, like 10 hour treks across glaciers, and in some areas, Sherin was forced to carry Ben while I lifted the walker. But what Ben could do in Iceland was much more than what he couldn't do. And we lifted him less on this trip then any other one I can remember.

Despite the wind, I will never forget the beauty of Iceland, and I have stored these serene images in my head. When Ben is recovering in the ICU following his spine surgery, and critical care providers are working as hard as possible to control his pain (which may nor may not work, we've been there before), I'll at least be able to conjure up images of lakes and mountains in Thingvellir National Park, the shooting Strokkur geyser in Geysir, the beauty of rain crystals on Ben's eyelashes as he soaked in the milky blue-white silica geothermal spring Blue Lagoon in Grindavik, and his joy of being under the hot waterfall there.

Basking in the Blue Lagoon

I'll be able to help Ben visualize these images as well, as a meditative practice on all things beautiful and good, and we'll make a mantram out of them for dealing with pain, anxiety, stress and impatience.

In April, just say the word Iceland to me, and I'll remember my mantram. Here's hoping that this trip, which has done our family so much good already, will also be the coping mechanism that I need it to be later on.

By Rani Elwy | Posted in Family, Schwartz-Jampel syndrome, Travel | Tagged , , | Comments (15)

Goodbye Gabriel

February 10, 2013 at 9:19 pm

He loved the show Yo Gabba Gabba and his older brother Andre. He smiled and laughed all the time, even through many episodes of pain. He was his mother's joy and love, and she fought so, so hard to get him all the care he needed. And he said his goodbye to his family and died in his sleep early on Monday, February 4. He was only 4 years old.

We never met Gabriel, or his gentle but fierce advocate-mother Constance, or his 8 year old brother Andre. They hail from El Paso, Texas, but are one of the eight families of children with Schwartz-Jampel syndrome (SJS) who have reached out to us over the years. Constance was different though--unlike so many of us these days, she picked up the phone and called us one weekend. It was a bit of a shock to get a phone call out of the blue from a woman wanting some advice about her son with SJS. She must have called at just the right time because I was able to talk to her for a long time--about some hernias that Gabriel was experiencing (Ben had these at age 18 months, too) and what treatment would be like for them; about respiratory and lung issues--Gabriel already had a tracheostomy; about what I believed was a patent ductus arteriosis--"hole in the heart"--a condition Ben had and eventually outgrew and which Gabriel may have had; and about Gabriel's eating issues and whether he needed a g-tube to help him thrive.

Gabriel in 2012

I was able to contact our dedicated Johns Hopkins Medical Institute physicians, Hal Dietz and Ronni Cohn, who recommended that Gabriel seek care at Texas Children's Hospital--and then, in their true, generous spirit, they invited Gabriel for consultations at JHMI. I relayed this information to Constance, but it was too much for her family to undertake a trip to Baltimore. Gabriel's health issues never took even a small break that would have allowed significant travel.

Constance and I continued to be in touch via email, but we hadn't connected since last November. But on Tuesday, she called to let us know Gabriel had died. On Friday, while we in the Northeast were hunkering down during a blizzard, I called Constance in sunny El Paso, after two days of visiting and services for Gabriel, to talk about all the wonderful things that Gabriel brought to this world. We also talked about what I had missed: Gabriel had undergone surgery for the g-tube, which wasn't successful, and had been hospitalized twice for pneumonia, the last time in January.

But the night before he died, he was apparently fine. Gabriel squeezed his mother's hand on Sunday night, told her that he loved her, and she went to bed lying next to him, feeling that warm squeeze. In Constance's words, though, she awoke in the middle of the night as if something had hit her, realized instantly that something was wrong, and turned to check on Gabriel. His body was lifeless. She performed chest compressions until the paramedics came and took Gabriel, Andre and Constance to the hospital. Andre, sobbing, was saying, "Please don't die, you're the only brother I have".

Gabriel was pronounced dead before the sun rose.

With tears streaming down my face, I listened to all of this. What can I or anyone say? There is nothing worse in the world.

Forget all the aches and pains I feel today after shoveling out from our blizzard. Forget that I have deadlines to meet and projects to get done and which I am behind on. Even forget that I get up every night to take care of Ben--a common undertaking that Constance and I shared. Because I have the gift of being able to get up; Constance does not.

As a friend, the mother of a child with a mitochondrial disease once said, when people asked her how she could be so happy when taking care of her sick son, "How do I know that this isn't my bliss? Maybe tomorrow will be worse".

Right now I am in my bliss. Constance's tomorrow is worse. I will embrace this day, and every day, because I can.

By Rani Elwy | Posted in Advocacy, Education, Family, Schwartz-Jampel syndrome | Tagged , , | Comments (6)

Farewell Leona the Large

February 3, 2013 at 10:56 am

Eight year old Lucy begged for a pet--a fish, a bird, a guinea pig or hamster-- because she knew a dog was out of the question. Sherin, who grew up in Jos, Nigeria with more pets than anyone I've ever known, including Alfred the turkey and a monkey whose name I've never known, said "if the fish comes, I go". I took a chance. On Lucy's 9th birthday in 2007, Leona the guinea pig entered our lives. Six year old Ben was thrilled.

Lucy with Leona, July 2007

Lucy had wanted to name her new pet after her two heroes, Leonardo and Galileo, but when learning that the guinea pig was female, she settled on Leona. Like many children with new pets, she was initially very attentive to this pig--fed her daily, cuddled her, complained little when it came to cleaning her cage. But with the passage of time and new activities to spark her interests, Leona--who became Leona the Large in her older age--was of less interest to her. Feeding and cage cleaning became a source of mother-daughter angst, and cuddles happened only when I was feeling up to it.

Ben and Charlotte felt put out that Leona resided in Lucy's room. To make Leona accessible for Ben, we would roll up Lucy's rug so that he could roll his walker in and scratch her cute nose--and practice his reflexes when Leona would attempt a nibble of his finger. Eventually, we got rid of the rug altogether. When Ben was asked to write about a pet at school, it was only natural that Leona would surface in this writing.

We've marveled over the last year at Leona's long life, and wondered if she might become the longest living guinea pig ever. But yesterday she died, an hour before we were due to a friend's house for dinner. I took her death surprisingly hard, with Ben the closest behind. Sherin, who never wanted this pet, took the lead in finding unfrozen ground in our backyard where we held a short but sincere burial and said our goodbyes.

I'm not sure why I'm so sad. Yes, I had two guinea pigs growing up, but I think it is more than that. Lucy is now 14 and Ben 11--Leona's life and death marks the passing of childhood into adolescence. Only 7 year old Charlotte will ever again be excited about caring for a guinea pig, but I can assure you we aren't going there again. Our kids are growing up, and this realization brings such mixed emotions.

Leona also taught Lucy that a pet is for life, something that at age 9 she couldn't comprehend but as she entered middle school and then high school, she had to realize this commitment, no matter how inconvenient it was. Isn't that so reflective of so many things in life?

One day, when Lucy is in college, she'll bring her boyfriend home and show him where her childhood guinea pig is buried, and she will think fondly about the 5 1/2 years that Leona shared her room. I know she will do this, because I did that too.

By Rani Elwy | Posted in Family | Comments (10)