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?

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!!!

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!!

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! 

Bridging the Gap

Hello! If you are here, it probably means you know and love someone with SMARD (Spinal Muscular Atrophy with Respiratory Distress). SMARD, a genetic neuromuscular disorder, is extremely rare, and there is neither treatment nor cure.

Here at Bridging the Gap, we are hoping to offer a lifeline to families struggling with a SMARD diagnosis. Knowing that SMARD patients are few and far between, we would like to bridge the gap between us, as well as offer support and a community.

Welcome! If you have any questions or are recently diagnosed and don’t know where to begin, email us at bridgingthegapSMARD@hotmail.com