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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6 Comments

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6 responses to “Profiling SMARD: Presley’s Story

  1. Sarah Betteley (Jaime's Mum)

    She’s an inspiration!

    • Thank you Sarah! I am in love with Jamie as well! I cant wait to see her profile too! I am loving that we can get to know all our sweet little kiddos and that we are working together to get research started and feeling more hope than when we were feeling when diagnosed a few months back! Applause to everyone!

  2. Lisa

    Hi Mindy,

    Presley is gorgeous, her smile radiates abiding joy. Thank you for sharing her with us and inspiring us with her story.

    I can’t imagine the average adult going through all the tests and surgeries that she had to endure, but yet here she is, this precious little flower, stronger than most adults, smiling and exuding happiness! She is a miracle!

  3. Nicole

    Presley is beautiful! She brought big smiles to my life this morning. Thank you for sharing her story.

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