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.

19 thoughts on “Unable to Speak and Diagnosed with Phelan-McDermid Syndrome, Sierra is Teaching Others To Communicate Without Words”

  1. 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 >>> Thanks again, Bonnie, for sharing Sierra’s story!

  2. 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!

  3. 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.

  4. 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!!

  5. 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)

  6. Gaby R. says:

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

  7. 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 🙂

  8. 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.

  9. Sabrina says:

    Beautiful article! It sounds exactly like my Alyssa!

  10. 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.

  11. 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.

  12. Lindsey says:

    My daughter was diagnosed in December of 2014. It was a life changing day. We have since been trying to stay on top of all of the other health issues and delays for her. She just turned one year old last week. I would love to hear more from other families about when some milestones were reached and also if any of your children have had hip displaysia. Our doctor wants to know more and how to possibly treat and wanted to know of other PMS kids have had displaysia as well. When did your kids walk? Sit up? Or is the range so broad that it’s hard to compare? I know some of these were posted years ago but I thought I’d reach out and see if I could connect to some of you. Thanks!

  13. dilek cetin says:

    Hi, my daughter is a very special girl just like sierra. She had a cardiac surgery (corrected) when she was 12days, and because she had kidney problem as well (she only has one working kidney now) the doctors did a genetics test which showed She had phelan-mcdermid syndome. At 9months (still not sitting) We had complex needs appointment and thats when the pediatrician noticed she was hypotonia. She is 14months now we have a special chair which the occupational therapist provided and portage coming in to help out with her developement skills. Having all these problems is not easy but having 4 children (she is the youngest) i can say that she is the loveliest and the funniest. She’s like a meditation to me, when im stressed i just go and play with her and all my stress just goes away. The only thing that worries me is, how different would her life be in the future, speaking walking running studying working falling in love getting married having kids etc, for me i will look after her for the rest of my life but i don’t want her to be upset

  14. Sarah says:

    This might not be of help to original family, but maybe others will see this. Many states, if not all, will cover the consultations and speech language therapy for preschool children. There are low and high tech forms of augmentative and alternative communication(AAC). Low tech would be something like using images or flash cards. High tech ranges from apps on iPads to devices created solely with the purpose of communication. If your child can’t talk, seek the assistance of a SLP. If they have a severe communication disorder, look for a more specialized SLP.

  15. Bobby says:

    I know this is outdated however we just received the diagnosis for PMS and my daughter had hip dysphasia.

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  18. John Welsh says:

    We have a wonderful little boy named John who was just diagnosed with P.M.S. He is 6 years old and a delight to be around. The diagnosis came 3 days ago so we have yet to go to the geneticist. Appointment is in two weeks. When he was 18 months he was diagnosed with PDD NOS. He received all the early intervention services and went to a special school for nursery and pre-K. He is currently in a special Ed kindergarten class 12-1-1 and is being held back. Prior to kindergarten he was diagnosed with apraxia. John is verbal, and low muscle tone. He also has some of the other symptoms. Before we knew anything about this we had him evaluated and his iq score came back in the I.D range. We are absolutely devastated by this diagnosis. Our world is upside down. I know a lot of the posts on here are very dated, I actually just stumbled across this site. If there is anyone out there who is going through this with a kid that sounds like John please reach out.

  19. Jeff Grimsby says:

    Hello, our daughter Liesel’s blood work came back for Phela- Mcdemid syndrome. As I looked up what this syndrome of course like most we experienced shock and grief. I am grateful for networks like this so families can share their experiences and not feel so alone .She was born with a horse shoe kidney,and hip displatia. lIesel has just turned one. During her first year we noticed hypotonia, and developmental delays. She does not crawl or talk, she babbles some. She can grab using fingers, but will not feed herself or want to hold a bottle. We have an appointment with a geneticist soon to read use her exact blood work chromosome results. I will be reading other families posts and sharing mine as this journey starts.

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