Profiling SMARD: Silas’ Story

** Silas is the son of Lisa, who has been working so hard to get us connected with the Jackson Laboratory!**

 

Silas Werner baffled a small army of Pittsburgh pediatric specialists before he was diagnosed with SMARD (spinal muscular atrophy with respiratory distress) three months after his birth. His parents, Lisa and John, were devastated.
The horrifying news of Silas’ diagnosis came after the death of their first child, Valentia, who died one year earlier at age six weeks. The medical examiner listed the cause as sudden infant death syndrome, despite the absence of risk factors. When Silas was later diagnosed with SMARD, his sister’s death was further investigated and it was confirmed that Valentia—the Latin term for “strong and brave” also had SMARD.
After being assured that SIDS never happens twice within the same family, Lisa took on the challenges of another pregnancy. Silas was born just after Christmas in 2009, at a low birth weight just like his sister, only four pounds eleven ounces. Lisa says she intuitively knew then that she and John faced enduring another “nightmare.”
“Our daughter died in our house, and I lived in constant fear that I would walk into his room and Silas would be dead, too.” Lisa and John, never convinced that Valentia died of SIDS, enrolled Silas in a voluntary sleep study. This miraculous decision saved his life, as he was intubated and rescued when his breathing stopped during the study.
Early into five months of tests, doctors had ruled out SMARD. They eventually diagnosed botulism, assuring the couple that, with the right medications, he would make a complete recovery. He didn’t. Eventually, testing showed SMARD should not have been ruled out.
“We liked the named Silas because in Latin it means from the forest, and we felt like expecting him was the only thing that could pull us out of the forest of grief after losing our daughter,” says Lisa. “Meanwhile, he was the messenger who led us out of the forest of unknown.”
Living against all odds, Silas, now almost two years old, requires round-the-clock care supplied by visiting nurses and his parents who mastered “special needs boot camp.” Despite his condition, Silas radiates joy from his smile and happy facial gestures. John, Lisa and his nurses describe Silas as “having the sweetest disposition of any baby we’ve ever met.” Speaking haltingly through a ventilator, he’s now mastered “mama” and “papa,” much to the delight of Lisa and John.
Despite not being able to breathe on his own and not being able to use his arms and legs because of muscle weakness, Silas is like any other child. He loves music and especially the show Glee. He smiles and likes to watch the wind blow through the trees. And he loves to snuggle in bed with his parents. “Silas makes life rich,” they say.

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Profiling SMARD: Anthony’s Story

​Anthony’s life began with an emergency c-section.  Previous to that, I noticed decreased fetal movement in my last trimester.  My obstetrician ordered several non-stress tests but each one came back fine.  The last one,  they decided to also have an ultrasound conducted and noticed that I only had 20% amniotic fluid.  So that day I was admitted into the hospital and was to be induced the next day.  
​During the induction, my blood pressure became dangerously high ,and do not really remember too much after that – fortunately both my husband and sister filled in the blanks.  
​Anthony’s began to destat and they decided to go ahead with a c-section.  During the operation, Anthony did well, but they almost lost me.  My blood pressure began to plummet and they had to bring me back.  
​After I came to, I asked what we had and asked how he was doing.  He was great!! He just needed a little pass of oxygen, but other than that he was fine.   What I find ironic is that his agar scores were 9, 9 and 10 and he had no problem breastfeeding.  He was on the small side, 5 lbs. 4 oz., but the doctors believed that was due to the decrease amniotic fluid.  They also noticed that I had cysts all over the placenta.  They could not explain that.  I still do not know what that all means.  
​He soon gained weight.  By one month of age, he was already weighing 10 + pounds.  The only problem that we soon saw was his platelets, red blood cell and white blood cell count  were dangerously low.  We had to keep on coming back each week for blood draws until he was three months of age.  At the last doctor’s appointment, my pediatrician said that if this blood draw comes back low again, she was going to refer us to an oncologist.  Luckily, it all fixed itself.  Don’t know why, but luckily it did.  
​Started to notice around six months, he was not making the milestones that normal children do, so my new pediatrician wrote a script for physical therapy.  We began that and he was making great progress. We also saw a neurologist who believed he may have Spinal Muscular Atrophy.  So we had blood drawn.  At around nine months, right around Christmas 2001, he contracted RSV.  He had a hard time clearing the mucous from his nose and lungs.  Something just did not seem right so we took him to the local emergency.  There they x-rayed him and said that it spread into pneumonia.  We were admitted. During a routine blood draw, he began to turn blue and they called a code.  My husband (who is a teacher and a coach) was at a tournament.  I was all alone and worried my son was going to die.  It took them a hour and a half to bring him back.  He was now intubated!!  They  cleared up his RSV pneumonia, but we still did not have the blood work back and I had to fight with Athena Diagnostics about getting the results.  They said our insurance was not going to pay for the test and before they release the results they wanted payment.  I wrote to then Senator Ted Kennedy and Senator John Kerry about my problem and we received the results of the SMA test which came back negative.  I was very happy, but bewildered why he was still unable to come off the ventilator.  It was going on three weeks at this point, and his pneumonia finally cleared up.    Unfortunately, he contracted another infection and we continued to stay in the hospital for an additional 26 days.  We wanted him to come home without the ventilator is at all possible since we did not know that he had SMARDS.  We transferred his care to the University of Michigan for additional therapy and the possibility of getting off the ventilator.  It was not to be – he was trached and we finally came home after an additional 35 days in the hospital.  We could not wait to come home.  A total of 82 days was exhausting.  I lost 30 pounds, got a herniated disk from standing so much ( I stayed by his bedside for 15 hours a day without sitting), and also got the flu as soon as we were home.  So exhausted, but thought the worst was behind us.
 
​Now I had a mission to find out what was wrong with Anthony.  SMARDS was not a diagnosis in 2002 for us.  I contacted doctors through the MDA, Cincinnati Children’s Hospital, even the Mayo Clinic but no one could tell us anything.  He got sick several more times where we had to stay in the hospital for two months at a time.  It was heart wrenching.  The last time was when his gastric tube was placed.  It began innocently enough with a standard cold that developed into a serious lung infection.  He stopped eating, not enough to sustain him, and through the night (I sleep in his room at all times, but this one night did not place in pulse oximeter on) I woke up to find him seizing , his eyes rolled back and blood everywhere on his face from biting his tongue.  We had to call emergency ;  when we got him to the hospital, they told us that his blood sugar was five.  It should be between 100 and 120 for kids like him.  The doctor said we are so fortunate we did not lose him right then and there.  Now we had to see if anything happened in his brain from the lack of oxygen.   He had a pet scan and they said that his basal ganglia did have slight damage, but we would have to wait and see if he would return to his normal function (for him).   Luckily he came back to his normal self within a week.  
​We also endured a stay whereby he had fluid on his lung (a whooping 3 liters).  The doctors were amazed that his saturation only went to 90 the entire time.  When we were at the hospital for that stay, they did a full electrolyte panel and CBC.  They noticed that his Vitamin D, Calcium, Sodium, Phosphorous, and Iron were either elevated or low.  The one we had to be concerned with was his ferritin.  Ferritin levels measure the amount of iron in the blood, his was 12,000 the normal is 200 max.  The most any known cases in medical books was 700 but Anthony’s was 1714% higher.  They would have to check his bone marrow to see if he had hemochromatosis.    He did not and the doctor could not explain why his number were too high.  The only thing they did notice was that he did have the bone marrow of an 80 year old;  probably due to his lack of weight bearing.
 
​I read about a lab in England were they tested blood for a disease now known as SMARDs1.  I asked my neurologist about it and we had to have our insurance ok the testing.  It was $650 to ship the blood and $1729 for the actual test itself.  We did not have the money for that and luckily our insurance did pick up the cost.  It took a full 6 months to get the test results back.  When we did, it was a slight relief.  I knew of SMA but not SMARDs and the MDA was not familiar with it either.  I worked again to find out more information and found more information overseas than here in America.  We are so behind the times when it comes to new discoveries.    
​Unfortunately,  for Anthony we have seen his abilities decrease as his gotten older.  He was able to eat orally, pick up objects with his hands, roll-over, kick his feet, sit with a little help, but he is unable to do those things.  The only consolation I have is I did find out that as long as we keep his lungs healthy, he should live fairly long, because the brain, eyesight, hearing are usually not affected in SMARDS children.  He has been very healthy, (knock on wood) for two straight years.  I keep him away from most people during the winter months of Michigan.  He only sees his nurses, and me and my husband.  If anyone is sick they are not allowed anywhere near him.  During the summer we take him a few places-we try to find places where there are horses.  He just loves horses!!  He also loves trains!  
​I feel so very blessed that he has survived this long, we almost lost him three times in his short life.   I do not know what the future holds, I only pray that Anthony is part of it for a very long time.  I would not know what I would do without him.  
Andrea  M Trupiano

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Profiling SMARD: Hunter’s Story

Hunter’s story

I had a great pregnancy, delivered full term. Hunter was a healthy
baby 7lbs 14oz, 19in long. Everything was going great. He slept and
ate all the time. Well all of a sudden he develops a squeak when he
would breathe. The doctors weren’t worried. Then he starts having a
problem eating, he just didn’t want to eat. He had weekly weight
checks and he kept losing weight. We went in to his doctor one day and
hunter was looking really pale. His Dr told us to take him to the
Children’s Hospital ER and that was the beginning of Hunter’s journey.
June 10, 2009 I will always remember that day. Hunter was 2 ½ months
old. He was admitted to Seattle Children’s Hospital with respiratory
distress. Everyday seemed to get worse. He was put on oxygen. Then he
refused to eat, so they put a feeding tube down his nose to his tummy(
a NG tube). He was really uncomfortable and cranky. The night of June
15th Hunter crashed and was moved to the PICU ( pediatric intensive
care unit). There he was put on CPAP (a high flow of oxygen through
the nose) for maybe a day. Then they intubated him for a procedure and
decided to keep him intubated, because he was comfortable. He stayed
sedated for a long time, otherwise he would try to pull the tube out
of his throat. They tried to extubate him a few times and he always
failed. They decided to give Hunter a tracheotomy in August of 2009.
Hunter was their little mystery, they ran every test they could think
of and everything came back fine. One day a
Neurologist comes in and he says that Hunter has the symptoms of
SMARD. I thought no way, my baby will be fine and he will just grow
out of this. He did the test and we went about our business learning
everything about how to care for Hunter. Before we are about to take
Hunter home I ask someone if the results are in and they said he was
negative, I was so happy. We took Hunter home and everything was
great. We went back for a check up and the Dr told me that Hunter did
have SMARD, the person who told me read the results of the SMA test.
Well I just lost it right there, I just couldn’t believe it, I thought
my little man was going to be just fine.
Well we went home and adjusted to life with Hunter. We were only home
for 2 months when Hunter almost died. I had a nurse who I trusted to
care for him while I slept. One night this nurse was negligent with
Hunter’s care and almost killed him. To sum it up She messed up his
tubing, so he wasn’t breathing and she didn’t do anything about it.
She waited to wake me up and I went in his room and he was lifeless
and I saved him and brought him back to life. He then had a seizure
and was taken to the hospital. He was unresponsive and had seizures on
and off for a few hours. Then he finally came through and was his
happy little self again.
We went a whole year without Hunter having to go to the hospital. Then
flu season came around and he has been in and out since then. Recently
we found out that hunter has a little amount of brain damage and
seizures all from when that nurse almost killed him.
So that is Hunter’s story. I have been putting off from writing it. It
is always emotional thinking back. I always thought when I would have
a baby I would be married and my baby would be healthy, would be able
to walk and say I love you mommy! No matter what though I know my baby
loves me, I know he will walk one day, and he will be healthy one day.
That is what keeps me going strong knowing that my baby is going to be
ok.

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Profiling SMARD: Christopher’s Story

Jan and I were married twelve years before Christopher was born in July of 1989.  He was our little miracle. 
 
From a guys perspective the pregnancy progressed pretty well though Jan was sick a lot and we were quietly concerned that the baby didn’t seem to move as much as other babies.  I know Jan has lots more insight into these times than I do.  She was watched closely because there were concerns.
 
When he was born, he was small.  I remember 4lb 6oz but I’m probably off a mile.  I just remember he was tiny.  He seemed normal though his cry was a little bit quieter but he seemed fine.  I remember his being able to do a pushup in his bassinet.  Over the next bit though we began to think something was wrong.  He would occasionally turn a bit dusky but we couldn’t put our finger on it.  I remember going to a Lamaze reunion with an apnea monitor on a long cord and marveling how much the other kids were squirming.  By now we knew something was wrong and we went from doctor to doctor trying to get someone to believe us.  At the three month mark our then pediatrician was out of town on a family emergency when Christopher crashed.  It’s as though he could eat or breath but not both.  They did a blood gas in emergency and slapped him on a ventilator and he’s been on one since.  That was in October of 1989. 
 
He spent the next four months in ICU undergoing multiple tests that pretty much showed he was normal.  I don’t think there was any such thing as SMARD back then.  I don’t think kids that had it generally lived long enough to get a diagnosis and, of course, they hadn’t sequenced the human genome yet.  From our and their perspective it was an orphan disease.  I remember several times throughout the years MDA would have nothing to do with us because we couldn’t give them a diagnosis (actually, they never did give us any help at all – It’s hard to explain how frustrating that was, having a child with such major muscle/nerve problems that he couldn’t move or even breath and because we didn’t have a name for it we were literally on our own.  You can see I have issues with them.  I hope others have fared better).
 
At seven months of age Christopher came home on a hospital ventilator because the portable vents in those days were not adequate for a kid that small.  Ventilators have changed a lot since those days.   What he has now is half the size of a brief case but superior in nearly every way to that first vent.
 
We were on our own.  No one had ever done what we were doing (that we or the children’s hospital knew of).  If the internet existed, we, and just about everyone else, had never heard of it.  We converted a smallish bedroom into a hospital room with extra wiring and a sink installed against the wall.
 
And so began our new lives.  I am a dentist and Jan had, a number of years earlier, changed majors two and a half years into a four year nursing program because she couldn’t stand nursing (one of those little ironies).   We knew the basics about cross contamination.  I knew a good deal about anatomy, physiology, metabolics, endocrinology and pharmacology.  [In the area of metabolics and nutrition Jan has far surpassed me.  She has been doing research for years.  This brings up a point.  Jan is very willing to share anything she has learned but she is every bit as interested in learning what you all have learned as well.  Nobody knows better than us how a bit of info can make a difference.]
 
As I look back I think what helped a lot, in addition to our faith, is that Christopher was small.  We could easily move him around.  I could hold him in my arms and put him in my lap.  He could still move a bit for a couple of years and I can, in my mind, still hear him say “pa pa”.  He has been unable to speak or move for years and now and he weighs 160lbs.  [Another aside:  Jan and I differ over the issue of “he can’t move from the chin down”.  If we suspend his arms he can get them to swing back and forth enough to activate switches but he is unable to do much else.  He can’t turn his head or breathe independently at all.  What I find fascinating is if it is innervated spinally it doesn’t work.  If it’s innervated cranially he’s OK.  He can smile, smirk, look around laugh etc but it’s all facial and head muscles.  He can turn on and off the most beautiful smile like a light switch.  His slight arm movement seems to be the result of some accessory innervation of the shoulder girdle from his cranial nerves.  I guess, on this point I’m glass half empty and she’s half full.]
 
We have had Christopher at home now for over twenty years.  He has only been back to the hospital twice since he came home.  The first time it was for a neurogenic bladder.  We discovered he was not voiding well enough and his blood pressure went nuts until we could figure it out.  He now gets cathed several times a day.  The second time was for his lungs.  That was a couple of years ago and we almost lost him.  He was in ICU for a month but he pulled through.

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Profiling SMARD: Jaime’s Story

Jaime was born full term on the 10th October 2009, we had a difficult last few months of pregnancy as she was small. I had steroid injections and regular monitoring. She was born only 3lb 15oz which shocked everyone and spent 5 days in the Neonatal Unit before being discharged.

She was a strong and feisty little girl from Day 1, she could lift her head from lying and cry for England! When she was a month old she stopped feeding as well and after a couple days our GP advised us to take us into hospital in the morning. The following morning we took her in and she had sats on 70% and was rushed straight to Resus. She was diagnosed with a chest infection and was put on CPAP, she responded well and a week later was on nasal prongs only needing a small amount of oxygen. Whilst feeding her she suddenly went into respiratory arrest, the Doctors resuscitated her and took her back to HDU and CPAP. She didn’t respond very well and deteriorated until two nights later we were woken to say she had been bagged for 3 hours, was in 100% oxygen and things weren’t looking good. Thankfully she’s a fighter and she stabilised enough for them to transfer her to Leicester ICU and was intubated. She continued to improve in ICU but despite several attempts of extubation (many of them because she’s a madam and pulled the tube out) she wouldn’t tolerate longer than a couple of hours.

Jaime was quite a puzzle to the Doctors and therapists as she was behaving and moving as any normal baby. In fact she was proving quite a hit with the ICU staff as they weren’t used to being able to play and interact with their patients, and when she looked like she was going to start smiling it just added more play time into the day.

The doctors ordered a string of tests and consultants to review her and two weeks later we were no closer to understanding it until an EEG showed nerve weakness in her hands and feet. We were told the most common diagnosis was SMA Type 1 or Charcot Marie Tooth, although they said she wasn’t presenting as they’d expect for these conditions. Our research into the conditions put significant doubts in our minds but never the less we had a nerve wracking wait until the results came back. One of our Doctors was working with a child in Nottingham with a strange variant of SMA but was about one (we think this could’ve been Maddison!) and SMARD as diagnosis was mentioned from the beginning.

After one month in ICU we made the difficult decision to have Jaime trached, in hindsight it was absolutely the correct decision as despite her strength and fight Jaime was starting to look tired and drawn from being on the Ventilator for so long. Our difficult decision was lightened as the day after her trachy was done she smiled for the first time.

A few days after the operation she was transferred to the High Dependency Unit, which was a very nervous time indeed. We were very worried that she’d gone from having a nurse at the end of her bed 24/7 to being in a side room. We both stayed with her, taking it in turns to watch her sleep, and on the first night she stopped triggering the Nippy (she was on Pressure Support) and her sats plummeted in a few seconds. Having been through it once before we new to pull the emergency buzzer and we were amazed at how quickly all the staff on Ward 12 piled in, and how quickly Jaime turned pink again! Jaime was moved to Pressure Control and the Doctors on the ward decided the best thing was to get Jaime bigger, she was now 10 weeks old and barely 5lbs and they knew that the best chance Jaime had was to get some weight so she had reserves. Pushing her respiratory function was the bottom of their list, especially after we had the all clear for SMA Type 1 and CMT. With the future unclear but looking brighter we enjoyed our first Christmas with Jaime and she got thoroughly spoilt!

In total we stayed on Ward 12 for a year, and they were very successful at putting weight on Jaime and at 3 months I could finally start buying her newborn clothing rather than Prem! Unfortunately with weight and height gain came muscle weakness, initially in her legs which she couldn’t lift and then by 5 months she stopped lifting her arms and at 6 months after a severe chest infection she lost the ability to swallow and move from the neck down. These were very difficult times and coincided with getting the confirmation of SMARD. We did what every parent does and ‘googled’ SMARD and came across ‘Daily Dakin’ which was amazing. We saw this amazing little boy who had an amazing quality of life and we were determined to give the same thing to Jaime. We got in contact with Dakin’s mum who put us in touch with Madison’s parents who were only an hour away from us in the UK. We joined SMASpace and after so many months in isolation with Jaime’s condition we loved being able hear about other peoples stories and experiences. They offered us real hope that Jaime could start to move again once she stopped growing.

She had a Gastrostomy at 7 months and from the age of 10 months she started to regain some movement, initially her arms moved in the bath. When she was 14 months old we were finally discharged from hospital, which meant leaving all her friends from ward 12 and trusting a new set of staff in the community. Coventry has never looked after a child with Jaime’s dependencies and so was a great challenge to them, and despite a few initial hiccups 2 months later it’s all going brilliantly, and we enjoyed our first Christmas at home with Jaime (and once again she got spoilt!)

Being at home was a huge step change, for so long we had had a daily commute down the motorway to visit Jaime for just a couple of hours each day her Grandparents spending the day with her. We have had to alter work hours and the way we live at home to make everything work, which is a huge strain but we’re getting used to it and we just need one smile from Jaime to know that it’s all worth it. Once we were at home Jaime really started to flourish, she started to ‘talk’ over the vent although we’re yet to get past ‘ra-ra’ and ‘ba-ba’ and she now cries for attention again. After only a few weeks at home her physical strength is returning, she’s started to swallow, cough, burp and projectile vomit again – so we’re back trying to get her to eat – although it’s just a game to her at the moment! Her arms and shoulders are starting to get stronger and she can roll cars on her table and she can turn her head from side to side.

Jaime’s personality and strength is an inspiration to us all, and everyone who has been involved in her care has been amazing. The generosity people have shown towards us is un-repayable and we’re permanently indebted to everyone who saved our little girl and continues to make her one of the happiest kids I’ve ever met. In April all our lives change again when our family grows and Jaime gets a little sister!

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Hi all!  I apologize for the lack of posts–Dakin was sick over New Year’s and we have been reeling from that–in addition to all the regular SMARD stuff.  So I am sorry, and I promise I will do better!

Which brings me to my points: 1.  I am hoping other SMARD parents will want to contribute to this blog.  If you are interested, let me know and I can add you as an admin and you can post whenever you like.  2.  I thought it might be fun to share adaptive ideas with one another, so if you have an idea that works for your little one, write me up a post with some pics and I will post it.  I will be posting an example with Dakin’s marionette strings tomorrow!

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**If you have read Welcome to Holland, you will really appreciate this.  I was approached by Dana through email a few months ago as she was trying to share this–it is amazing.  Check out her blog.** 

Amsterdam International

To fully get this post, please read (or re-read) Welcome to Holland before starting.  Thanks.

 In the special needs world, there is a poem (essay? whatever.) called “Welcome to Holland.”  It is supposed to explain what it’s like to have a child with special needs.  It’s short and sweet. 

It skips everything.

While “Welcome to Holland” has a place, I used to hate it.  It skipped over all of the agony of having a child with special needs and went right to the happy ending. 

The raw, painful, confusing entry into Holland was just glossed over.  And considering the fact that this little poem is so often passed along to new-moms-of-kids-with-special-needs, it seems unfair to just hand them a little story about getting new guidebooks and windmills and tulips.

If I had written “Welcome to Holland”, I would have included the terrible entry time.  And it would sound like this:

Amsterdam International
 
Parents of “normal” kids who are friends with parents of kids with special needs often say things like “Wow! How do you do it? I wouldn’t be able to handle everything—you guys are amazing!” (Well, thank you very much.) But there’s no special manual, no magical positive attitude serum, no guide to embodying strength and serenity . . . people just do what they have to do. You rise to the occasion, and embrace your sense of humor (or grow a new one). You come to love your life, and it’s hard to imagine it a different way (although when you try, it may sting a little). But things weren’t always like this . . . at first, you ricocheted around the stages of grief, and it was hard to see the sun through the clouds. And forget the damn tulips or windmills. In the beginning you’re stuck in Amsterdam International Airport. And no one ever talks about how much it sucks.

You briskly walk off of the plane into the airport thinking “There-must-be-a-way-to-fix-this-please-please-don’t-make-me-have-to-stay-here-THIS-ISN’T-WHAT-I-WANTED-please-just-take-it-back”. The airport is covered with signs in Dutch that don’t help, and several well-meaning airport professionals try to calm you into realizing that you are here (oh, and since they’re shutting down the airport today, you can never leave. Never never. This is your new reality.). Their tone and smiles are reassuring, and for a moment you feel a little bit more calm . . . but the pit in your stomach doesn’t leave and a new wave of panic isn’t far off.

(Although you don’t know it yet, this will become a pattern. You will often come to a place of almost acceptance, only to quickly re-become devastated or infuriated about this goddamned unfair deviation to Holland. At first this will happen several times a day, but it will taper to several times a week, and then only occasionally.)

A flash of realization—your family and friends are waiting. Some in Italy, some back home . . . all wanting to hear about your arrival in Rome. Now what is there to say? And how do you say it? You settle on leaving an outgoing voicemail that says “We’ve arrived, the flight was fine, more news to come” because really, what else can you say? You’re not even sure what to tell yourself about Holland, let alone your loved ones.

(Although you don’t know it yet, this will become a pattern. How can you talk to people about Holland? If they sweetly offer reassurances, it’s hard to find comfort in them . . . they’ve never been to Holland, after all.


And their attempts at sympathy? While genuine, you don’t need their pity . . . their pity says “Wow, things must really suck for you” . . . and when you’re just trying to hold yourself together, that doesn’t help. When you hear someone else say that things are bad, it’s hard to maintain your denial, to keep up your everything-is-just-fine-thank-you-very-much outer shell. Pity hits too close to home, and you can’t admit to yourself how terrible it feels to be stuck in Holland, because then you will undoubtedly collapse into a pile of raw, wailing agony. So you have to deflect and hold yourself together . . . deflect and hold yourself together.)

You sneak sideways glances at your travel companion, who also was ready for Italy. You have no idea how (s)he’s handling this massive change in plans, and can’t bring yourself to ask. You think “Please, please don’t leave me here. Stay with me. We can find the right things to say to each other, I think. Maybe we can have a good life here.” But the terror of a mutual breakdown, of admitting that you’re deep in a pit of raw misery, of saying it out loud and thereby making it reality, is too strong. So you say nothing.

(Although you don’t know it yet, this may become a pattern. It will get easier with practice, but it will always be difficult to talk with your partner about your residency in Holland. Your emotions won’t often line up—you’ll be accepting things and trying to build a home just as he starts clamoring for appointments with more diplomats who may be able to “fix” it all. And then you’ll switch, you moving into anger and him into acceptance. You will be afraid of sharing your depression, because it might be contagious—how can you share all of the things you hate about Holland without worrying that you’re just showing your partner all of the reasons that he should sink into depression, too?)

And what you keep thinking but can’t bring yourself to say aloud is that you would give anything to go back in time a few months. You wish you never bought the tickets. It seems that no traveler is ever supposed to say “I wish I never even got on the plane. I just want to be back at home.” But it’s true, and it makes you feel terrible about yourself, which is just fantastic . . . a giant dose of guilt is just what a terrified lonely lost tourist needs.

Although you don’t know it yet, this is the part that will fade. After you’re ready, and get out of the airport, you will get to know Holland and you won’t regret the fact that you have traveled. Oh, you will long for Italy from time to time, and want to rage against the unfairness from time to time, but you will get past the little voice that once said “Take this back from me. I don’t want this trip at all.”

Each traveler has to find their own way out of the airport. Some people navigate through the corridors in a pretty direct path (the corridors can lead right in a row: Denial to Anger to Bargaining to Depression to Acceptance). More commonly, you shuffle and wind around . . . leaving the Depression hallway to find yourself somehow back in Anger again. You may be here for months.

But you will leave the airport. You will.

And as you learn more about Holland, and see how much it has to offer, you will grow to love it.

And it will change who you are, for the better.

© Dana Nieder 10/2010 All Rights Reserved

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Profiling SMARD: Evan’s Story

Evan’s Story (excerpts from a presentation given at a conference)

 Evan, our 7 year old boy, is everything we always wanted in a son. He is absolutely adorable with the cutest toothy grin. Most days he is happy-go –lucky and gets tickled by the littlest thing. He makes everyone around him smile too. I lie down next to him at night and he shares from his heart what he has been mulling around in his mind. Yes, I have a lot to be grateful for. This picture of Evan is a few years old, but I have always loved it because he looks like a typical kid. In some ways he is and in many others he is not. He is the little boy I always wanted . . . and a lot more of what I didn’t expect.

After being married a year, I couldn’t wait to have kids and thankfully, Carl, my husband felt the same. When I finally got pregnant, I felt like all my dreams were coming true. My pregnancy was relatively uneventful except for bleeding all the way through the first half. Since the doctor wasn’t concerned, I wasn’t either.

On July 24th, 2003 we had a little 5lb 14 oz baby boy named Evan David. He was the best baby and slept most of the time. He hardly ever cried and when he did, he had such a soft sweet cry. No one believes us, but he started smiling at 2 weeks old. All of our friends were jealous. 

I loved being a mother! Yes, those first few weeks home were exhausting, but I didn’t care. I did all the things I had been waiting to do as a mother. Dress him up in cute clothes, take him to church and show him off and just be called, “Evan’s mom”. Then something happened that made things unexpectedly stressful. Evan, at three and a half months old, decided he didn’t want to eat anymore. He would go 8 hours or more without wanting to nurse. The doctor suggested trying to feed him with a syringe filled with milk. He would just spit it out. After numerous Dr.’s appts and tests, when he was three and a half months old, one doctor finally noticed that his breathing wasn’t right. We found out that his liver was pushed up into his lungs. He wouldn’t eat because he was having to choose between that and breathing.

Immediately, we were admitted into Children’s hospital with surgery scheduled right away. Looking back I am glad that we found this when we did because I know Evan would have stopped breathing soon after that. The nurses and doctors reassured us that once he recovered from surgery we would go home and live a normal life. They predicted he would be in the hospital about a week. This wasn’t so bad. Just a little bump in the road and then we could go back to living our life. Things, however, turned out very differently than anyone had expected.
When Evan got out of surgery, he was taken off of the ventilator. After being off for 16 hours, he crashed. No problem, he probably just needed it because of the surgery. So, they waited a week and tried again. Once again he crashed. Every time they tried to take him off the ventilator he turned blue. At this point we had been in the hospital for a month and were beginning to wonder what was going on. We didn’t want to admit it out loud, but we were starting to notice some other things that weren’t quite right. His toes wouldn’t move and his fingers were curled up all the time. The OTs and PTs from the hospital came in and said he wasn’t meeting milestones that he should be at this age. I wanted to attribute it all to him being tied to the bed so he wouldn’t pull his tubes out. But deep inside I knew that really wasn’t the reason. That’s when the battery of tests began. Evan was tested for things like Polio, Botulism, West Nile Virus and Spinal Muscular Atrophy – all which came back negative. By this time Evan had been intubated on the ventilator for 6 weeks and we had to make the really hard decision to put a trach tube in. That felt so permanent and final.

We stayed in the hospital for exactly 3 months (54 days of that in the ICU). Our son came home a very different child than when he went in. My dreams and expectations I had for my life and family were lost.

I now had a six month old child with tubes hanging off his body. I now had a nurse in my home 16 hours a day caring for MY child. Evan had so many doctors’ appts. and therapies. Our life revolved around caring for him. Our social lives suffered because we couldn’t go many places. I was up against insurance companies and medical supply companies and even doctors and nurses. There were days when all I could do was lie in bed and cry. There were other days when I felt anger creep up inside that my son had to go through this. Other times I just denied he was truly sick. Maybe he would get better. Afterall, we still had no diagnosis. His diaphragm was completely paralyzed and there was obvious weakness through his entire body, but maybe it was something that could get better.

Carl’s sister was doing research for us on the internet and found a condition that looked incredibly like what Evan had. There were x-rays online that showed livers that had pushed up into the lungs on the right side. There were pictures of curled fingers and toes. My heart sank thinking about this being a possible diagnosis. It was very clear in all the articles that this was a progressive disease with no cure and early in his life he would most likely succumb. Because at that time there was no way to test it here in the United States, we had to send our bloodwork to Germany. When Evan was 15 months old we finally got the diagnosis of SMARD.

Evan’s disease and our situation is what it is. There is nothing I can do to change it and at some point I had to realize that and let go of the expectations I had for my life. I can’t speak for all of you, but I know for a lot of us we have these expectations on what life is supposed to be like and then when it doesn’t turn out that way there is a grieving process. I go through the grieving process every time I see Evan lose strength. What helps me during these times to change my perspective is to think of things I am thankful for in regards to the situation.

Gratefulness – doesn’t mean I have to love Evan’s disease. In fact, I hate that my child has a disease that will make him get weaker, but I am thankful that we have had the time with him that we have had. I don’t like having nurses in my home all the time, but I am so glad we have the care that we do and that I don’t have to do it on my own. I hate that my son has to be on a ventilator 24/7, but I am so thankful for the technology so he can live and not only that, but he can live at home. No matter what we are going through there are always things we can be grateful for.

It makes me so sad that Evan’s hands aren’t able to grip anything anymore, but I am thankful for my other son, 5-year-old Andy, who willingly acts as hands and feet for Evan. By focusing on the things I am grateful for, I can change my perspective and get out from under the cloud that I could live under. Otherwise, I would be totally consumed with fear and anxiety over the future.

My life is not what I had dreamt, but Evan has been exactly what I needed. I am thankful for the gift God has given me in Evan and pray that I will be the mom I need to be to him. Despite the circumstances, Evan has been doing very well. He attends a typical 2nd grade class and absolutely loves it! His classmates and teachers are so kind to him and help him all that they can. For these things I am grateful. He is realizing he is different, but has kept his smile and good attitude and for that I am grateful. In fact one night, while he was sick with a respiratory virus, he said, “Mom, I have a lot to be thankful for. I am especially thankful for God’s love and for all the things I have to help me (referring to his medical equipment). When we sit at the table on Thanksgiving, I am going to have a lot to say about what I’m thankful for.” I had to turn away because I had tears in my eyes. What a lesson in thankfulness!

God is so good and I am thankful. God continues to give me strength to deal with the unexpected and for that I am thankful.

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Valentia’s Story

**This is part of the story of Valentia, Silas’ sister.  Valentia passed away at six weeks old of SMARD.  This telling is heart wrenching and raw and real–and I believe necessary.  In Valentia’s passing, she enabled Silas to be here with us.  She should be celebrated.**   

VALENTIA PRISCILLA AZELLE WERNER

September 23, 2008- October 23, 2008

 The following is an excerpt from a biography I began writing about the events surrounding Valentia’s death.  My husband, John, and I were told she died from SIDS, but I never believed SIDS took her life because unlike all the other babies who lost their lives to SIDS in our county (over a five (5) year period), Valentia had no risk factors. It was clear to me that she did not die from SIDS.  It was frustrating and I was outraged that nobody in the medical community would listen to me, and merely wrote me off as a grieving mother in denial. As such, I started my own investigation to try to uncover what may have taken her life.   Unfortunately we would not discover that she had SMARD until after Silas was born, but if I hadn’t done my own investigation into her death Silas would not be alive today.

 Only four pounds when she was born, it was important that Valentia begin gaining weight. The doctors and nurses told me that it was more imperative to feed her every three hours with a bottle than to spend too much time trying to get her to latch on in order to breast-feed her. I was upset for not being able to successfully breast feed Valentia, but John and I still felt blessed that she loved to eat and was growing. We, along with our parents, adoringly referred to her as our little “chow hound.” In fact, she was growing so well that the pediatrician said that she didn’t need to see Valentia until her two-month checkup.  Everyone who knew Valentia witnessed nothing but a healthy, growing, gorgeous baby.

 When she was born, Valentia looked very much like me with her round face and brown eyes. Her brown eyes changed steadily and soon she had John’s big alluring azure eyes, along with his perfectly shaped sweetheart mouth, his pale skin, and Aunt Laura’s (John’s sister) long, slim frame. She still had a round face and “the Porter nose,” as my dad proudly described it. The hair on top of Valentia’s head was still growing and looked like very fine peach fuzz close up, but from far away, it looked as if she had a receding hairline. It was adorable.

Still sitting on the bedroom floor, I felt the tears begin to swell in my eyes. I took a deep breath, closed my eyes, and quickly wiped away the tears before they hit my cheeks.  It was so painful to see the massage chair where I spent so much time feeding and loving and caressing my dear little Valentia. I felt as if I was going to vomit, so I directed my eyes toward the window and concentrated on the melancholy white sky streaming through the panes of glass and the sturdy old oak tree in the distance – the first thing I would cast my eyes upon as I awakened on all those pregnant mornings. I would gaze out the window, look at that tree with its spring buds and think how Valentia will be here with me the next time that those buds begin to blossom. It was here in this room where Valentia was conceived and where Valentia died. That’s when I realize that I’m sitting next to my side of the bed, the exact spot where my baby daughter’s short precious life suddenly ended.  Positioning myself on the spot where Valentia died, I pulled my knees in tightly to my chest trying to roll myself into a small ball in an attempt to simulate what it might have been like for Valentia when she lay there.   I thought about her taking her last breath that night, trying to imagine what she saw right before she closed her eyes for the final time. I wondered if I was too far away for her little eyes to see me in the darkened room. Then my thoughts faded back to the eve of our nightmare. 

Valentia was crying when I lay her down in her crisp white ruffled bassinet, almost as if she was trying to tell me something. I lifted her out and handed her to John while I made a fresh bottle, but John soon discovered that Valentia was “stinky,” so I immediately undressed her so that I could give her a bath. “That’s why you’re crying,” I said. “You’re a stinky little girl. Mama is going to give you a bath.”  Before I began bathing her, she was making soft-sounding snort noises through her nose, but it didn’t seriously concern me.  Weeks earlier, the pediatrician, as well as all my friends with babies, assured me that these noises were perfectly normal, but the noises stopped when Valentia was in the bath. We had recently turned on the furnace to cope with the cold bitter Pittsburgh weather, so I thought that the cause of Valentia’s muted snorts was all the extremely dry air from our forced-air gas furnace. I remember yelling to John in the next room: “She’s not making those noises anymore. I think it’s because of the steam from the water. I think it’s too dry in that room because of the furnace. Even [our little Yorkshire Terrier] Gigi was making hacking noises earlier today. It must be too dry in there and I think that’s why she was crying.”

I washed Valentia’s soft peach fuzz hairline, and she smiled as I rinsed the suds from her head. Her eyes looked particularly bright and blue that night, which is how I’ll always remember them. When her hair was wet, her sweet little head always seemed larger than her tiny 5 pound, 5 ounce body. “Valentia, I said teasingly.  “You are the cutest little alien baby. Mama loves you. You are beautiful. You look more like your Dada every day. You have his big beautiful blue eyes. I love you so much.”  I had Valentia’s bathing method well under control at this point, unlike the first week she was home, and it had quickly become my favorite activity. I wanted to savor the moment because I was afraid she would grow up too fast. She loved to feel the warm water splash on her body when I sprayed her with the hand-held hose from the Jacuzzi tub. She absolutely loved bath time.

The room seemed chilly. I think the temperature read 67 degrees. Valentia had only a few smaller undershirts upstairs, and I couldn’t find a clean one, so I dressed her in one of the cotton undershirt style onsie. John was peering over my shoulder to make sure he could undress Valentia for the next diaper change. He was just starting to learn the mechanics of crossover snappy undershirts. “Don’t worry about snapping the bottom,” I explained. “I’m just going to use this as an undershirt.” I lay Valentia down in her pink fleece jumper, the one with the ballet skipper feet that my mom had bought her, and noticed that her feet were cold. So I slipped some warm cotton socks on her feet before I snapped the jump suit. I grabbed the swaddle blanket from her dresser drawer and gently swaddled her, arms to her side.  Swaddling is supposed to comfort babies because it reminds them of their tight quarters in the uterus.  John used to call it a straight jacket. He had a point.

Trying to help her breathe better, I detached her Sweet Peace (an automated rocker that simulate rocking arms) from its base and set it down next to my side of the bed for her to sleep in.  This way she could still sleep on her back, reclined but not totally flat.  My friends with a babies told me that one trick to get a baby to sleep was to put them in their carrier. The Sweet Peace was shaped like a carrier, but more relined. “Should I actually get her carrier or do you think this is safe for night sleeping?” I asked John.  “When I bought it,” he reminded me,” the guy at Babyland said that his daughter used the Sweet Peace as a bassinet.” “Oh yeah,” I replied. “He told me the same thing.

So I set Valentia down gently in the Sweet Peace, making sure that her little head was in the head positioner so she didn’t slouch over while John plugged in the vaporizer to add moisture to the air.  But Valentia continued to cry so I gave her a pacifier. She didn’t seem to want it though. This was unusual because she loved that pacifier so much that John joked that she looked like the baby from the Simpson’s who always had a pacifier stuck in her mouth.  Nonetheless, I figured she’d start sucking away as soon as she clamed down. I tucked the bottom part of the pacifier in her little fleece swaddle so that it wouldn’t fall out, a trick I used to hold it in place when I drove with Valentia over to my mom’s house 45 minutes away. I also wanted to ensure it wouldn’t fall out because I had read that pacifiers reduced the risk of SIDS (Sudden Infant Death Syndrome) by 70%, something to do with the sucking motion and brain stimulation. Just that week, I also learned that ceiling fans were significant SIDS risk reducers because they decrease the chance that babies will re-breathe their own carbon dioxide. I didn’t know much about SIDS at that point. I thought it was caused by suffocation and that, for some reason, boys, African American babies, and babies with teenage mothers were more at risk.  So even though I had little fear that Valentia was at risk, I turned on the ceiling fan too, just to be extra careful, especially after two different friends who had stopped by that week happened to bring up the subject of SIDS and ceiling fans during the course of their visit.

Valentia was still crying. “Awe, Valentia. Don’t cry. Mama is here. Mama is right here. I can see you and I’m right here.”  Those were the last words I spoke to her before she drifted off to sleep. My voice was the last thing she heard before she took her last breath. I sometimes hear myself repeating those words out loud: “Mama can see you. Mama is right here.” Then instantly I feel a hot wave of anxiety course through my body.  Recriminating thoughts begin to flood through my mind:

 MAMA DIDN’T SEE THAT YOU STOPPED BREATHING.

MAMA WAS RIGHT HERE NEXT TO YOU

   BUT DIDN’T KNOW WHAT YOU NEEDED.

MAMA FAILED YOU. MAMA FED YOU IN THIS ROOM.

             MAMA LOVED YOU IN THIS ROOM,

BUT MAMA LET YOU DIE IN THIS ROOM.

 I had just given birth six weeks ago and now my baby was dead! Buried in the ground.  I didn’t want to think or talk about anything else.  Nothing else was worthy of my thoughts, and my thoughts were all I had.  I wanted to savor every last one.  I wanted to climb up on top of every rooftop and scream into a bullhorn:

 My baby was alive. She was a person. She lived.  She had a birth certificate,

She had a social security card. She had an insurance card. SHE MATTERED!

 She was here.  She smiled. She cried. She liked listening to her Dada read her

 Green Eggs and Ham. She hated getting undressed but loved getting a bath.

 She was her own little person with her own personality, but now she’s dead.

 My baby is dead! I wanted to scream to every stranger I passed on the street:

    VALENTIA DIED AND NOBODY KNOWS WHY!

 I wanted someone from television to do a story about her on “Unsolved Mysteries.” I wanted the entire world to know about Valentia. Refocusing my thoughts on seeing Valentia again, I figured that the closest I could ever get to being with her is through her brother or sister. So I imagined what it would be like if someday we have another child.  Will he or she look like her? And if we have another baby, will we be able to live in this house? The house where Valentia died?  I think about the hundreds of joyful mornings that took place in this house before the single horrifying day that Valentia died and wonder if I can stay here in this handsome old house…our beloved home.

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Profiling SMARD: Maddison’s Story

Maddison was born  6.8.08 a healthy 7lb130z.  She was born with club foot but we was told its postional so a few times a phsiyo she should be fine.  After a few visits to the phsiyo we noticed the movement in her feet had stopped.  She was referred to a pediatritian, they weren’t worried, just said they would see her in 6 months.
When maddison was 6 months old she fell ill and was takern to hospital where they said she had pnemoinia ,she had a week of antibiotics and and was sent home after 2 weeks in hospital, while at home her feeding was poor and she seemed to struggle breathing also she would not bare any weight on her legs.  3 weeks after the time she was sent home from hospital we were back again.  This was the 16th feb 2009.  A and E the docs noticed her breathing pattern was not quite right, and admitted her to the wards, a day later maddison got alot worse and was taken up to intensive care unit, there they did a xray and noticed the her right side of her diphragm was high, and her lung had collasped.  With the other sypmtoms that I had told the e.g no movement of feet, no weight bareing, tiny cry and now poor feeding, they got a neuro team to look at her.  And thats when all the test started.  Endless test.  But while all these test was being done the docs on picu thought it may be congenatal her diphragm and choose to opperate to pull it down and tighten it to enable her lung to re open, and it did, maddison was taken back to the normal ward on only oxygen and  a ng feeding tube.
 
On the ward they couldnt get maddison off oxygen so she remaind in hospital ofr a further 10 weeks in this time she had endless chest infections and was incubated up to 4 times.
At this point maddiosn would be about 8 months and is now on non invasive venilation, a nerve conduction showed there was a neuro problem, and was sent for a mucsul biopsiy,which also said there was a problem too.  So with all these test dr chow started piecing all her symptoms togther, foot deformaties, weak cry, weak cough, sweating, high heart rate, poor feeding, on going breathing problems and low muscul tone.  On the 20th may 2009 the diagnosis was back, our worse fear SMARD1 positive.  We were in compleate shock and felt nothing but sadness at this point, every we had read was so so bad and as good as said she would be compleatly paralyzed and being only alive beacuse of machiens, and NO QUALITY OF LIFE was used alot.  A week after the dignososis maddison fell ill again and was put back in picu back on the vent,this time was different, this time we new she might not come off.  After a week on the vent and a unsucessfull extubation, they gave us the talk at 2oclock in moring, heres how it went”you have some big decisions to make, you must think of maddison and her quilty of life “wll she become a burden” me and jamie(her dad)said im sorry but shes our daughter she will never be a burden, and there is no decision to make,shes going no where, we new this meant maddison needing  a trachostomy and 24/7 ventilation.  That  night we promised our baby girl she will have a brillent quilty of life and all the love and effection her brothers and sisters get, she would want foe nothing.
with this promise we needed extra money,so we did some fundraiseing and raied 20,000 pound before she evern came out of hospital.  At this point maddison had been in hospital 4 months and we never left her.  Also when she had her trachy maddison had a g tube because they said she WILL loose her swallow.
So from june to december it was all training to look after maddison, includeing intence chest phisyo, alot of body development phisyo and basic life support. 
The hospital of nottingham queens medical center had never had any children with smard1 ever or any were to them,so they couldnt say what maddison furture held.
On the 19 december 2009 almost 11 months after we first takern he in hospital,we finally could take maddison home.just in time for christmas,which was our goal.
From then till now maddison as thrived, no more hospital, even when she as had chest infections she has beat it all by her self.  thanx to the cough assist we love it.
maddison as a big team of people that her.  9 in total, she has a carer sit up all night wacthing her as she needs 24 hour care.
maddison as 1 older sister lacey 9,healthy,harley 6,healthy and jayden 3,healthy.  maddison loves haveing older sileant so much from them.
As for the g tube maddison eats 3 meals a day, and has fluids throgh her g tube,shes a piggy.
maddison loves danceing , singing, makeing a mess, haveing a strope normall 2 year old things.she can talk sing and comuicate very well,aslo she can sign.
At the moment maddiosn can sit,roll,pull her self across the floor with her arms,get from sitting into lieing,eat,talk.  This is just for straters im sure she will be doing alot more next year lol.
We work very very hard with maddison development and its paying off,so fingers up to youve got smard you wont move or have a QUALITY OF LIFE.
maddison has been on loads of fair rides, a 16ft inflateable slide, padderling pool, tramperline, a bike, been on holiday and played on a beach.
All in all maddison is a true insperation and a soilder….

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