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Unable to Speak and Diagnosed with Phelan-McDermid Syndrome, Sierra is Teaching Others To Communicate Without Words


Phelan McDermid syndrome, also known as 22q13 deletion syndrome, is associated with intellectual disabilities, sleep disorders and seizures.

How do you tell the story of someone who has no words? As her mother, I can only give my side of the story and just hope that I can put into words just how very special Sierra is in this life.

Sierra was born at midnight on my 29th birthday. Although she had to spend five days in the neonatal intensive care unit (NICU) for ingesting meconium, Sierra was the perfect birthday present in every way. From birth, she was an easy and happy baby. She always had plenty of smiles and giggles to share. As new parents, we were elated and mesmerized by “our little burrito” (Sierra loved to be swaddled in the early months).

Unfortunately, Sierra was also plagued with ear infections and respiratory problems for much of her first year. She spent many nights screaming and even spent a week in the hospital with pneumonia. Even then, she handled these illnesses better than most children would. We were so caught up with the illnesses that it was not until Sierra was eight months old that I realized that she was not sitting up yet. We contacted our doctor who recommended seeing a neurologist, a developmental pediatrician and an Early Intervention program. As Sierra got a little older, our fears expanded from her gross motor delays (caused by hypotonia) to other developmental areas. The doctors recommended that we do genetic testing. All of the doctors, including the neurogeneticist who completed the testing, thought that Sierra just had hypotonia and that she would “just grow out of it.”

I will never forget the day (Friday, Nov. 9th, 2007) that I got the call telling me about Sierra. I was six months pregnant with my second daughter, when a genetic counselor called and said that they had found a chromosomal deletion. They told me about the deletion (22q13), that Sierra was mentally retarded and not to look on the Internet until after we met with them for a consultation. It is amazing how much a couple of minutes can alter your whole universe. I do not think anyone can quite understand a moment like that. I will share my husband’s reaction, a very intimate moment, only because I think it puts the feelings into perspective. When I told him about the phone call, he cried, he cursed, he threw furniture, he punched a wall and then he sat on the couch and said, “it’s okay; Sierra and I will be best friends for life.”

Sierra is a happy, beautiful little girl. I do not think anyone who looked at her beautiful face would know that she has a chromosomal deletion (Phelan-McDermid syndrome). However, if they spent a little time watching her, they would soon realize that she’s “different.” Even more, if they spent a little time trying to get to know her, they would come to love those differences.

In the years since her diagnosis, I am still amazed at the wave of emotions that come and go. In the beginning, I grieved the loss of things that she may never experience (close friends, love, being a mother…). The wonderful thing about time is that the feelings of grief comes less often. They have been replaced with pure gratitude for having Sierra in my life. She has most assuredly given me a new outlook on life. I, like so many others, have taken so much for granted. I am envious of Sierra’s overwhelming joy of the simple things in life (jumping up and down, going for a car ride, swinging, being tickled and hugged, watching Sesame Street…). I feel fortunate every day of my life that I was chosen to be her mother. Every day I am amazed by her ability to overcome the challenge(s) of the day. She wakes up with a smile and goes to bed with a smile, despite all that she has to deal with. How many of us can say the same, despite dealing with so much less?

Sierra cannot speak. Although she has no words, when she looks you in the eye, you know that she has so much to say. Recently, she has been getting frustrated with not being able to communicate or, even more so, with our lack of ability to understand what she wants to say. I simply cannot imagine not being able to communicate my wants and my needs. Yet, despite her inability to speak, I am in awe of the ways that she has learned to communicate. She will grab the TV remote if she wants to watch a show, stand at the dining room table if she wants to eat, go to the front door if she wants to go for a walk or car ride, and my favorite, take your hand in hers to lead you to what she wants. Although these are wonderful strides, they simply are not enough. We have spent days comforting our daughter as she screamed in pain. We have watched countless doctors helplessly search for the causes of this pain, but to no avail because they have no idea where to search.

My hope for writing this story is to help people realize that Sierra is not just a diagnosis. She is a wonderful child that if you took a step back from her “differences” and tried to know her, you would simply find a precious little girl who loves to laugh, whose smile can melt your heart and who is so easy to love. My eternal hope for Sierra is that through science and technology, she will one day be able to tell her wants and needs and even more so, her own story.

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  1. Jade says:

    Hi there, my daughter has the same diagnoses, take one day at a time, tilly looks just the same as your daughter, I hope one day science will improve and find a way to knock out the shank 3 and be able to provide other treatments, she has a standing frame for her hypotonia and I also do rhythmic movement teqniques with her every day she is improving slowly but as long as I can give her the best life possible that’s all that matters to me, our love is strong enough just keep that hope.

  2. rebecca says:

    Thank you for sharing. My daughter was diagnosed yesterday with Phelan-McDermid. You are so right, those few minutes change your entire world.

  3. Sabrina says:

    Beautiful article! It sounds exactly like my Alyssa!

  4. Barbara Moore says:

    I posted this on facebook. Have you tried to communicate using pictures? PECS (picture exchange communication, also means Pyramid Education Consultants) has a lot on the internet. I have 2 children with this same deletion, neither of them talk and I use a couple of methods of communication for them. They don’t use it as well as I had hoped, it helps some. Also, ipad has several apps for communication. Although expensive, Proloquo2go is one app that I use. Hope this helps if you haven’t tried already.

  5. Megan Toole says:

    Just so beautiful!! Brought tears to my eyes! Our kids are so different but so the same at once.

    I hope one day that I feel confident to share what I have written about my Olivia :)

  6. Gaby R. says:

    This is such a wonderful story; it could be the one of my little Marina !!!! Lots of hugs..

  7. Amy estrela says:

    Wonderful write up. She sounds just like Jacob. He also has PMS And now is 7
    I get it. I understand. As I have been telling people.
    We walk down the same path
    And we share the same footsteps
    We have the same journey
    Just not at the same time and place.
    Welcome to the community
    Xoxoxo amy
    Mom to Justin (17) and Jacob (7) PMS, autism, hypotonia, tachycardia, hypospadius, micrognathia, seizures, atrial septal defect, asthma, hemolytic anemia, a1 alpha anti trypsin deficiency ( some have cleared on their own)

  8. Helen Wise says:

    We are blessed to know a little boy with Phelan-McDermid Syndrome, and he too is a delight. I maintain that these very special kids are sent to very special families!!

  9. Julie says:

    Very similar circumstances. I was also pregnant when we found out almost a year ago. Our almost 4 year old Wyatt is also very happy and a joy to have in our lives. It can be hard to think about the future so we try to just live for him in this moment. Thanks for writing this. It’s beautiful.

  10. Melissa says:

    Thanks for sharing your story and the true emotions that come with it. I cried as I read your husbands reaction. My daughter Lily is 4 and was diagnosed a year ago October 11th. I remember them using the term “moderate to severe intellectual disability” and I remember thinking what’s that mean? Will she have a learning disability. Of course they are too PC to say mentally retarded so I had to ask the questions to figure it out. I was blind sighted because at that time I just thought she had a speech delay. As she’s gotten older, the intellectual disability is becoming more evident. It definitely was a phone call that changed our whole lives! Thanks again for sharing your beautiful daughter’s story. Love and prayers for the future!

  11. Kurt Koester says:

    Very nice write-up, Bonnie! It brought a tear to my eye and smiles, too. It’s very similar to our daughter’s story. Of course, you know that our Kylie (age 11) also has Phelan-McDermid Syndrome. We are a small, but mighty group with only 850 (or so) known diagnosed individuals in the world that are registered with our international foundation. However, our connection to autism expands our world exponentially. Researchers are very interested in our children because they most definitely have a known genetic cause for their autistc behavoirs. Perhaps learning more about Phelan-McDermid Syndrome will open pathways for understanding more about autism. Anyone that wants to learn more about PMS and/or cares to contribute to our cause should visit this website >>>www.pmsf.org. Thanks again, Bonnie, for sharing Sierra’s story!

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