Special Needs Spolight || Aurelia

Hi, I’m Megan. I’m a stay-at-home mama to 3 girls, the youngest of whom has Smith-Magenis syndrome, a rare genetic disorder. I’m also a knitter–it keeps me sane and is portable. My husband, Keith, is a forensic architect. We live in Virginia but long for the West Coast. I write about us (sporadically) here at Moogielight or you can find me @moogielight on Instagram.

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Miggy: Hi Megan and welcome! So happy to have you here today. First, can you take me back to the day you knew your daughter would have special needs? Was it before birth, shortly after birth, or sometime after that? Do you remember how you first felt? Can you compare those first thoughts and feelings with how you feel now?

Megan: We didn’t know during my pregnancy that there were any problems. When Aurelia was born, however, she immediately had a tough time breathing and quickly developed multiple other mysterious symptoms. She was in and out of the hospital for weeks after birth, and endured test after test, but no one knew what was going on. As she got older she continued to struggle with rapid breathing, chronic constipation, choking while breastfeeding (she couldn’t take a bottle at all), missed developmental milestones, vision problems. Doctors, specialists, even 2 geneticists, told us she’d grow out of it, but I knew something was different about our sweet girl. At 9 months, a new pediatrician took one look at Aurelia and ordered an evaluation with Early Intervention and referred us to a neurologist who in turn referred us to a (3rd) geneticist, who ordered multiple tests. At 14 months, we got our answer: Smith-Magenis syndrome (SMS).

Getting the news was surreal. We were lucky in that the geneticist had actually heard of the disorder and could refer us to an expert–that is a rare experience for parents–but even so she had little information to give us other than a printout from a website. It wasn’t until we got to the car and started googling that we really started learning about our daughter’s diagnosis. At that point we were filled with shock, fear and grief. It took weeks of processing and learning how to place boundaries on what we allowed ourselves to read about SMS before we could start to come to terms with it the fact our daughter had this life-altering disorder. We were scared, but knew we’d fight for our girl every chance we got. I focused on stories of small children with the disorder and told myself we’d take it step-by-step; the future could be dealt with later. That said, the reality of what Aurelia’s diagnosis meant took a while to set in. The first time another SMS mama said the word “disability” when describing our daughter’s needs, it hit me like a ton of bricks. I’d never thought of her diagnosis that way, or maybe never let myself think of it that way. It made total sense, but understanding that I had a child with a disability somehow took her diagnosis to another level for me.

Aurelia is 4, almost 5, now. In the past few years, we have made connections with an online worldwide community of families with children with SMS and even met a couple of families in our area. We’ve had amazing parents of older kiddos with SMS take us under their wing, become wonderful friends and valuable resources, something I hope to do for others someday. We’ve attended a PRISMS (www.prisms.org) conference to meet other families and persons with SMS and learn about the latest scientific findings. We are armed with more knowledge and support, which makes a huge difference. SMS is hard and scary at times, but I wear the label “special needs mama” with pride. We still have a lot to learn, but are making strides alongside our daughter, who surprises us every day with what she learns and accomplishes. She is teaching us to always presume competence and see the girl instead of the disorder.
Miggy: Could you please educate us about Smith-Magenis syndrome, how it affects Aurelia and how her needs affect your day-to-day life?

Megan: Smith-Magenis syndrome (SMS) is a rare genetic disorder caused by either a deletion or mutation on the short arm of the 17th chromosome at 17p11.2. It is believed to occur in as many as 1 in 25,000 individuals, but at last count there were fewer than 800 diagnosed persons worldwide. The chromosomal abnormality associated with SMS is commonly a random, non-familial occurrence, though can be inherited in some cases. Persons with SMS are typically happy and affectionate, with excellent memories, strong wills, and a proclivity for technology. Most also struggle with global developmental delays, health problems, low muscle tone (hypotonia), cognitive delays, lack of safety awareness, an inability to localize or feel pain, and intense sensory processing and behavioral challenges which cause meltdowns with self-injurious and aggressive behaviors. One of the most challenging symptoms is the inverted sleep cycle: persons with SMS produce their bodies’ natural melatonin in the mornings instead of at night like most individuals, and many stop producing any melatonin at all by adulthood. This results in continuous sleep deprivation, which exacerbates behaviors and health issues. Aurelia frequently is awake from 1am to 5am, having only slept a few hours prior to waking and sleeping only an hour or so afterward. Naps can be equally sporadic.Aurelia is, in many ways, a “typical” kid. She’s smart, silly, and affectionate and she loves to learn and participate in family and school activities. She loves being outside, and is happiest playing in the waves and sand at the beach; she loves to paint and play with bubbles. She is, however, significantly impacted by SMS and is followed by roughly 20 medical specialists and PT, OT, ST and ABA therapists. Because she is very easily overwhelmed and triggered into intense behaviors, we have put plans and supports in place to help her and us get through each day. We schedule events and appointments at times she tends to be calmest. Keith and I tag-team on particularly strenuous appointments or at sibling events, making sure one person can attend to her needs while the other person speaks with the doctor or watches a performance. Because she doesn’t sleep much, either her dad or myself have to be up with her at night, meaning we are also continually sleep-deprived. When awake, Aurelia needs constant monitoring to keep her safe and calm, to keep her from running off unattended or doing something dangerous. Having someone continually by her side is also necessary to make sure a frustrating moment doesn’t become a full-blown meltdown and if it does, to move her somewhere safe so she doesn’t hurt herself. Persons with SMS often don’t have the ability to calm themselves or self-soothe; instead, behaviors and emotions escalate until someone steps in to help. Ignoring a tantrum is not an option. I don’t work outside the home, so I can be available to take her to her many appointments and be on-call when she is at school in case of a bad day. At school, she has a 1:1 aide that is always with her.

As tough as managing her disability is, seeing her little face light up when she’s having fun, or watching her hug her sisters or begin to run or jump, or hearing her say (or watching her sign) a new phrase for the first time, or feeling her arms around my neck is so powerful that all that tough stuff is very worth it. Yes, I would rid her of SMS if I could, because parts of it are so, so hard on her and us. But I would never go back and choose a life without her to rid us of SMS. Aurelia is not SMS. Aurelia lights up our world.
Miggy: What are the biggest worries you face for Aurelia? On the flip side, what are your hopes and dreams for her?

Megan: Making sure our daughter has the education, healthcare and services she needs to be cared for and also to develop and grow and learn to her maximum potential is the biggest worry right now. Our state is ranked 39th in the country for state services for persons with disabilities (according to the UCP State Scorecards). Not that impressive. Aurelia will very likely need lifelong supports and what is available here is not adequate for her needs. The Medicaid-funded programs she qualifies for (which are only for her, not our family; she qualifies because of her disability) are underfunded;one has a waitlist so long she may never be chosen for a spot, even though she’s being put on the waitlist at 4 years old. Public education in our city is rated amongst the lowest in the country and special education is even worse. Private schools aren’t an option for her unless we provide for all of her services ourselves, on top of tuition, and many aren’t set up for a student with her level of need, even if we could afford that (we can’t). Aurelia has an amazing teacher now in the public school system and the staff is good and trying, but the resources and policies of the district are such that as she enters elementary school and continues on, the prospects for her education are scary and possibly very limiting for her future. Ultimately, we don’t feel like we will be able to stay here long-term but we are also struggling to figure out where to move to, how to afford a move and provide for our other kids in a way that’s as fair as possible. Moving and starting the process of qualifying for services and finding her 20 specialists elsewhere is also daunting.

We are considering these life-altering moves and changes for our family because we want Aurelia to have the ability to learn and make friends and be included. We want her to be happy and safe. We want our family to have the supports we need to make sure we can provide all she needs. I hope she continues to love school and have positive experiences there. I hope she maintains the level of health she has now and continues getting stronger and making developmental strides and learns to pull back on those big behaviors. I hope one day she is able to go to college or get a job she loves and to live independently from us – whether that is supported living or a group home or whatever she needs. I hope she makes friends and always feels loved.

Miggy: How can people best approach or respond to Aurelia? Is there something you wish other people knew so as to avoid awkward or hurtful situations?

Megan: Our daughter’s behaviors can be intense. They are genetically driven and she does not often have the ability to control them. Sometimes we know she’s on edge and avoid people or curtly tell them to leave her alone; we may not hug a friend or shake the hand of a new acquaintance. This isn’t to be rude, but to be proactive and keep her from being triggered into a meltdown, as we know she is upset when people touch Mama or Daddy and has high anxiety around many strangers. Please don’t be offended. Other times, despite all our preparation and attempts to prevent it, we’ve pushed her past her limit and she’s in full meltdown in the middle of the grocery store or a park or a restaurant. People see a child screaming and hitting herself or the people she is with or throwing things and often react with gasps or comments on her behavior or stares. They don’t know that child only slept 4 hours of the last 24 and is in pain or is scared and can’t express it in a socially-acceptable way. If you witness a child melting down, please consider that you don’t know that child’s story, what challenges she faces. Know that the caregiver is doing all they can to calm that child, even if it looks like they aren’t doing anything. If you want help, please don’t touch the child or the caregiver or their things without asking, as that can exacerbate things. Instead, try engaging siblings in lighthearted conversation, without removing them from the caregiver’s sight, or simply ask, “How can I help you?” to the caregiver. Please don’t be offended if we don’t respond or say “No, thanks.” We may not know how to explain what we need in that moment, as we are laser-focused on our little one, or we may know that engaging with you could break a fragile peace we see on the horizon. Also, please recognize that she and we have every right to attempt outings to any public place, even if it could result in a meltdown, and we likely are working very hard to prevent them, even if we aren’t successful.

Miggy: I know from firsthand experience what a special role siblings can play in your special needs journey. Is there anything you’d like to share about your other children and their relationship to your Aurelia?

Megan: Aurelia’s older sisters are her friends, her teachers, and her protectors. They love her and help her and squabble with her, getting mad when she gets into their stuff. They make her laugh and teach her to make fart noises with slime and she wants nothing more than to be included in their activities and antics, unless they are annoying her. Aurelia’s disability definitely shapes their experiences together, and the older girls will learn compassion and patience in a way not many others will experience, but they also sacrifice their parents’ attention and get jealous. They are true sisters.Miggy: Tell us something you love about Aurelia. A special story, a personality trait or just something others might not know.

Megan: That Aurelia shares my love for the beach is so wonderful to me. All my girls love it, but it is a place Aurelia is most at peace. The night before we go she carries around her bucket and shovel and talks about it nonstop. Once there, she is happy, running across the sand and reaching for the waves as they rush away from shore, laughing when they come back in and surround her. We stay for hours and she wants nothing more than to sleep within earshot of the water and return the next day.

Miggy: What is the biggest lesson you’ve learned since becoming a special needs mom? Megan: The biggest and most important lesson has been learning how amazing kids like Aurelia are. I used to believe I’d never be able to handle having child with a disability. I didn’t realize what a light she’d be in our lives. I never knew how smart a child with a cognitive disability could be, how physically strong a child with mobility challenges or low muscle tone has to be to do the things most of us take for granted, how hard a kid with health problems works to make progress, how determined they have to be to keep getting up and dusting themselves off when they fall, how delightful it is to share in their moments of success and achievement. My daughter and the other children and families we’ve met since her diagnosis prove every day that children with disabilities live lives full of strength and brilliance and love. Yes, the challenges are there, but so is joy. It is such a gift to have our daughter and others like her in our lives.

Miggy: If you could say something to the mom who just starting on this journey of special needs, what would you say? What would you say to yourself if you could go back in time?

Megan: You can do it. She is amazing. It will not be easy, there will be tears, but we can do hard things and she is so, so worth it. Also, find the other special needs mamas. They know all.

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Megan, I loved this. So educational, real and positive all at the same time. Wow–your daughter has a very challenging condition that I had never heard of before… the sleep alone would be tough for anyone. But you are so quick to also talk about all you love about her–what a light and joy she is in your family. The perfect line that captured that for me was, “Yes, I would rid her of SMS if I could, because parts of it are so, so hard on her and us. But I would never go back and choose a life without her to rid us of SMS. Aurelia is not SMS.” Beautifully said. Lastly, I absolutely love your advice about how people can approach your daughter and family, “If you witness a child melting down, please consider that you don’t know that child’s story, what challenges she faces. Know that the caregiver is doing all they can to calm that child, even if it looks like they aren’t doing anything… Also, please recognize that she and we have every right to attempt outings to any public place, even if it could result in a meltdown, and we likely are working very hard to prevent them, even if we aren’t successful.” YES! I could not agree more. People and kids with disabilities, should be welcomed and respected in public places the same as everyone else. They might be loud, they might have behavioral issues, they might look different, but they are every bit as human and therefore have the very same rights as everyone else. Thank you so much for sharing your wisdom, experience and especially your beautiful daughter Aurelia. So much love to you and your family!

As always if you or someone you know would like to participate in the special needs spotlight please email me at thislittlemiggy at gmail dot com. Have a fantastic weekend!

XO,

Miggy