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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Dealing

I have a friend who is a pastor in a hospital.  As you can imagine, he sees a lot of what we as SMARD parents deal with–anger, sadness, depression, anxiety, etc.  He told me that people usually deal with major issues in one of four ways: they eat it, they drink it, they shop it or they f*#* it.  His comment really got me to thinking about how I am dealing with Dakin’s illness. 

When Dakin was in the hospital, I gained 15 pounds.  Waiting for test results I gained another 35.  So, clearly, I eat my stress.  It was not a healthy response and my body is still suffering from my lack of ability to deal with the stress in a healthy way. 

I am attempting now to find alternatives to help me deal–because obviously the issue isn’t going away.  One of my favorite releases is reality television (don’t judge me…ha!), especially the Real Housewives series.  I am sure you know how it is–the sadness and reality of SMARD is just too much sometimes, but I know concentrating on the ridiculous lives of these ridiculous women will help distract me–at least for a little while.

What are your favorite releases?  How have you coped–negatively or positively–with the stress of SMARD?

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Profiling SMARD: Eli’s Story

**make sure you wish Eli a happy birthday!!**

Eli was born December 10th-2009 a little on the small side.. He was born 5 weeks early and weighed 4lbs 7ozs due to a clotting factor that I was diagnosed with during my second pregnancy! He was very healthy and had a very strong cry! He did great and went straight to the well baby nursey! He was released to go home the same day I was. Eli did all the things normal babies do eat, sleep and potty! Nothing would have prepared us for what happened when he was 2 months. When went for a check up, everything was what seemed normal good check up and vaccines and by midnight he was acting very strange! Sudden episodes of cool clammy pale spells. Nothing seemed to calm him down other than too hold him very tightly against your chest. We decided to take him to our local hospital and he was diagnosed with rsv and pneumonia! He was treated and released 2 days later. We came home and Eli did well for 4 days until the episodes started once again. We then were airlifted to a childrens hospital 2 hours away. He was tested for infantile botulism, which was negative! He had many more test done which led the Docs down the path of SMA or Dejerine-Sottas syndrome(known as infantile Charcot-Marie Tooth) also. All which were negative. We also had a muscle and nerve biopsy and they too were inconclusive.. We were discharged 4 months later with a trach, ventilator, G-tube, due to a paralyzed diaphragm. During this time we decided we No longer wanted to follow up with the first Childrens hospital and was transferred over to UAB childrens in Birmingham, AL. We went for our 1st visit and the neurologist thought Eli was just like a child they had there at UAB who had SMARD. They tested Eli and 3 weeks later his test came back abnormal and he was diagnosed with Smard! I truely believe God led us to the doctors at Birmingham, after 5 months of Numerous test and all negative results! We are truley blessed to have Eli in our lives and thank God each and everyday for the breaths we take and the air we breathe! He and all  SMARD kids are such little inspirations! Thank u Lord for them all!!!

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Profiling SMARD: Presley’s Story

Presley was born a healthy baby girl at 6 lbs 13 oz. She was such a strong girl from the second she was out! She held up her head and rolled from tummy to back the day she was born. But within a few weeks we noticed she liked to keep her hands held in little fists and up like a bunny rabbit. We teased thats how she was in the womb. At 3-4 months her little hands would reach out in fists….but our doctor at the time did not seem concerned. “sometimes babies don’t open there hands yet.” But this was like she never opened them ALL the way. Like her finger tips were weak. At six months we noticed her feet were weaker as well, and in fact they did not move at all? This seemed more than a coincidence-Both hands and feet..? So thats when our doctor FINALLY referred us to neurology. Within one visit they knew Presley had something neuromuscular but didnt know what. They were thinking Charcot Marie Tooth. Her hands looked like a CMT patient. But CMT patients dont usually show signs this early. They told us they did not know what to expect since they did not know what she had but we would continue to test her and eventually find the answer. A Muscle Biopsy at 1 years old showed she had sma type 1. Which our doctors knew was false because she was standing, sitting, crawling, eating…..just couldn’t move her toes and feet and her hands were kinda claw like. Her hands had actually drastically improved though and she could grab anything and do anything with them. Her only set back was she had to wear AFO’s. We took a gene test for sma-came up negative. That was ruled out, they still thought CMT. At 13 months she started pulling to stand, walking along furniture, running in her walker. She would crawl to her walker, climb up to it herself and go! She could go anywhere. No big deal. But we noticed she was holding her neck a little crooked and she was deveoping scoliosis. It went from, “hmmm, I think she might have scoliosis” to 60 degrees in a matter of months. At this point we were concerned with her lungs that they would eventually be squished and compromised by her rapid growing curve. They thought they would put her on bipap in a few months just at night to keep her chest walls expanded and prevent problems. At 18 months she got rsv. Thats when things went downhill. After extubating her from being vented for almost 2 weeks they could not wean her off the nasal cannula-so we went home on that and bipap at night. At night she would desat still on bipap. So we went back to the hospital after a week or so to adjust the settings. Nothing they would do would keep her from dropping at night. During the day though she was fine on nassal cannula and even off any oxygen. Finally they ran some tests and discovered her diaphram was extremely weak and almost paralyzed. Thats when they questioned if it could be smard? Though they didn’t think it was likely in her case. We decided to Gtube her because her vocal cords were 80% paralyzed as well and she aspirated food since February’s rsv-and after g tube surgery they tried to extubate and she only lasted til night time when she coded and they had to re-intubate. That’s when we knew she needed to be trached. She was happy and full of life still even intubated and in the hospital, so we knew she would want to stay with us. The day we trached her she came back from the surgery breathing at ease and so much more comfortable and was talking in a little whisper-which is more than they told us she would do! So we were thrilled. She got scoliosis surgery a few weeks later and we have been at home ever since. In September they finally got the results back from my husband and my gene tests that confirmed what she had was smard. Our neurologist was pretty surprised because family history possibly showed CMT and Presley lost her diaphram so much later than they though smard kids usually did? But its confirmed. She has smard. Despite everything, all the hard work and surgeries she still is so happy and full of life! She walked up until her back surgery and I think the surgery was just really hard on her-she has to rebuild all her back muscles in the right spot, since she was used to walking with a crooked back. She is strong and beautiful and life is very full! She talks so much now and recently has learned to use her real voice and not just the whisper. She has to concentrate, but she can do it. She learned how to sit up again after the surgery, and can roll over as well. She can bear a little bit of weight again as well, with a lot of help from me and also her stander. But she has a strong desire to keep trying to stand, so I let her keep trying. She can eat pudding thick food now without aspirating but we can’t do liquid yet. She loves her bumbo, and american sign language, and learning her numbers and letters. And she is so smiley ALL THE TIME! She is the light of our lives and we enjoy every second! We keep her locked away as a hermit in the winter, and we are planning on playing as much as possible this summer! Zoo, aquarium, park, everything! The hardest part is not knowing what to expect. But we try to make our own path. We desperately want a cure or treatment. She is so strong and happy trached and if she could get stronger we know she would be determined enough to do it! She is our inspiration!!

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Profiling SMARD: Dakin’s Story

Hi all!  Welcome to Bridging the Gap!  I am hoping this site will help to reinforce our community as well as helping with advocacy, so in that vein  I Mindy thought it might be fun to get to know our kids.  Thusly, here is Dakin.

Dakin was born on Halloween 2007.  After a perfect, uneventful pregnancy, he was born at 7 lbs, 9 oz, with a good cry.  He was a mostly perfect baby–he ate and slept as well as any newborn does…until about 2 months of age.  Then the weirdness began.  He started decreasing his eating, and gagging horribly when we would pick him up.  After repeated visits to the pediatrician, we were told he had reflux.  Eleven days after the last visit, Dakin wokr up very lethargic.  We managed to get him in at the pediatrician’s, and he was immediately rushed to the ER, and from there lifeflighted to Dallas, where we stayed for 2.5 months. 

None of the multiple doctors we saw knew what was wrong, other than they could see his diaphragm was not moving as much as it should.  They advised tracheostomy, saying he would ‘grow out of it.’  We went ahead with the surgery, proceeded to Our Children’s House at Baylor and learned to care for Dakin’s many needs.  While there, Dakin’s amazing pulmonologist thought it might be worth one last trip to see Dr. Susan Iannaccone, a world class neurologist.  We did, and she suspected SMARD.  At the time, SMARD testing was not available in the US, and so after being tested, we were released home to wait.  Three months later, we received notification that Dakin’s results were abnormal.  In October, a month before Dakin’s first birthday, he was finally officially diagnosed with SMARD, though the final and definitive test results did not come back until a year after the initial testing.

Flash forward.  We have had the amazing opportunity to watch Dakin learn and grow in ways we feared he would not be able to.  We have helped advocate for SMARD kids through helping forward ‘regular’ SMA research.  We have had more fun and joy than we ever could have imagined.  Dakin is light and laughter and joyfulness, and we are lucky to have him.

 He has PT, OT and Speech, as well as 2-3 times daily breathing treatments with Xopenex and Atrovent.  He takes a small dose of Atenolol for a higher-than-normal heart rate, but other than that, nothing.  We do trach care daily and trach changes weekly.  Dakin spends time in the stander 5 days a week, and I think it has done amazing things for him.

So anyway, that’s our little one!!  We are very much looking forward to meeting all of you! 

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