While You Complain, Let Me Explain

Photo by Zachary Kyra-Derksen on Unsplash

It takes a lot to get me fired up. I generally let people say what they want without inserting my thoughts and opinions. I let things roll on by and if I don’t like it, I hit the DELETE button. This week I read a post on social media that annoyed me, but I didn’t react right away. I dug into the story a bit deeper to get more details. I watched the video in question to form my own opinion and thoughts. I progressed from annoyed to angry.

As a mom of an adult daughter that uses a wheelchair, we face challenges getting to and from places often. I plan our trips around where we may be able to find a place to park. There is always some anxiety that I feel when I take Emily places. There may be disappointment that when we arrive at our destination, there may not be a place to park, and we will return home. (Daniel Defabio and I discuss this issue in detail in Episode 2 of Pain Points on The Disorder Channel.) 

The disappointment is that even if you find parking, will the aisles be wide enough? Justin and I are planning a trip to H Mart this week. I wanted to take Emily with us for a spring break field trip, and he informed me the aisles were too cluttered and narrow to accommodate her wheelchair. We will have to go when she is at her adult day program. This makes me sad.

Will there be access to a restroom large enough to fit Emily, her wheelchair, and me? Not even some ADA restrooms are accessible! That is the truth. If they are large enough, often they are occupied by able-bodied individuals who think they are entitled to the “plush stall” to conduct their business.

These are some of the struggles we’ve faced over the years, but I see change is coming. I look at the parents of children younger than Emily that are trailblazers. They are setting the world on fire with advocacy and creating awareness. I believe awareness is step one to creating change and improving accessibility. I am learning to speak up (in my 50s) and say something when I feel like the disabled community is not being seen or heard. 

This leads me to why Candace and I need to have a talk. Author, journalist, and political commentator Candace Owen decided to trash an ad campaign for SKIMS shapewear that depicted a woman in a wheelchair wearing a SKIM bra and underwear set. Before I share my thoughts, let me share her words: “I didn’t know we had to see that in our face. And now we’re going to have to look forward to campaigns where women that are in wheelchairs are now wearing bras and underwear because, we as a society, just cannot get to the bottom of our ridiculousness.” 


The mama bear in me wants to curse her out and rage on her, but the problem-solver and benefit-of-the-doubt-giver think maybe this is a teachable moment. 

  1. I believe there is a good percentage of people that agree with Candace. Before I had Emily, I would have been careless with my words and expectations of society to meet the needs of the disabled population. It is expensive to make changes that only impact part of the population, but I was wrong, and so is Candace. Over 61 million Americans have a disability. 19% of Americans have a physical or mental condition that limits them in some capacity.
  2. “I didn’t know we had to see (insert any adjective) in our face” is NEVER going to be the right thing to say. Shall I give you some examples?: black people, fat people, white men, disabled people, Chinese, Christian, Buddhist….hopefully, you are getting the message. That sentence is never going to land well. Period.
  3. This ad has been around for almost a year, and you are just getting around to blasting it? Some journalist you are.
  4. The ad is for ADAPTIVE undergarments. Do you know what that means, Candace? They are made to help those with physical limitations get in and out of them. Did you research before you went raging? Again, some journalist you are.
  5. The answer is YES. Yes. I want to see this and many more ads where the disabled are included. I wrote about this in a post last year. Candace, let me direct you to another article you can read to get some knowledge. Disability is Diversity.
  6. I do not want you to be canceled, and I do not wish you or anyone you love to end up disabled, but I hope you will learn more and open your mind to the beautiful word of disability. There is a lot of goodness there. Exposure might make you less angry and more open too. You never know. 
  7. You have a right to say whatever you like. We live in a country where you are free to spew whatever you desire. In the words of Ted Lasso, “I want you to know, I value each of your opinions, even when you’re wrong.” Because your opinion, riddled with venom and hate, was the catalyst that provoked me to speak out.

I want to live in a world where I see my daughter and her peers at the movies, football games, and the H Mart, and no one even notices. They are just peeps grabbing some ramen or watching some ball. They are included and able to enjoy the same things as everyone else. A world that includes my daughter is the only one that makes sense. Bring on that ridiculousness all day long.

Zebra Stripe Fashion
Wheelchair Using Beauty
Emily with Jacklyn Smith

Grief Emerging From a Closet Purge

This weekend Todd is camping, and he even took Ben with him. I cannot believe how much quieter the house is without the young pup following me every minute of the day. Coco is content and thrilled to just be left alone. Enjoying the calm that surrounds her while she sleeps and eats.

I am on a round of Prednisone, which has taken over Slaughter’s fictional characters at interrupting my slumber. If you know me, you also know that I am not a great sleeper when my spouse is away. Prednisone and the absence of Todd is a great recipe to create progress on this year’s home purging goal. I am on a mission to purge 10 items a day in 2023. It seems my shopping may have surpassed my purging at this point. There’s that! But this weekend I am making up for the imbalance.

It’s a beautiful weekend for the first time in weeks in not-so-sunny Southern California. I wanted to get to the purge quickly and then get outside to enjoy the sunshine I’v desperately missed. I began cleaning out a bench seat full of this and that. Old blankets, random flat sheets, tablecloths, and more tablecloths. I swiftly conquered this task and filled a 33-gallon bag with pride. 

Next up, a quick closet purge. Emily and I share a closet in her room. It is stuffed to the gills and overwhelming to look at. After a week of self-development novels (Jay Shetty and Shauna Niequist were the authors of the week), I was ready to let go of some of my belongings to make space for more internal calm. Less is more.

As I began quickly browsing the contents at a rapid pace, I pulled out a jacket one of Emily’s caregivers had created a few years ago. My heart suddenly skipped a beat, and grief swept over me like a crashing wave. There I was holding this denim jacket with a glittering butterfly and the charm that dangled from it, “Big Sis”. I began to cry. Tears streamed down my face. I could hardly catch my breath. It was raw, palpable, and uncontrollable. I couldn’t contain the sadness that erupted from the sight of that silly, beaten-up jacket. Billie, you have been on this journey long enough to know how this works. Caregivers come. Caregivers go. This is just one step on a path. A path on the way to their dreams. A pit stop in the race. Why are you so upset about this? What is going on? Your emotions are a bit over the top don’t you think? Wow, you are a hot mess and blubbering the ugly cry. Get a hold of yourself!

The sound of Emily giggling at my ugly cry broke the spell. I know Emily desperately misses some of the caregivers that have crossed the threshold of our home. The grief and loss that follows the absence of a caregiver are always difficult. But those that were more than caregivers are the toughest. The ones that loved Emily as if she was a younger sibling. They treated her with dignity, love, and compassion. The caregivers that entered our home, took charge and embraced our family with effortless ease. They added joy to Emily’s life and my life too. The ones I adopted as bonus children. They helped me grow as a mom and caregiver while adding joy and laughter to our home.

That damn denim jacket that hasn’t been out of the closet since 2019 is a reminder of the loss that comes with this journey. The special people that come and go. The ones that come and leave an imprint in our lives. The attachments we make as we open up our hearts and our homes. The joy these women impart in Emily’s life. The priceless smiles and laughter they elicit from Emily by only their presence. These caregivers became part of our family. They support Emily. They support me. They support the family. You cannot imagine life without them until one day, that is the reality.

Scorched Psyche, Slaughter, and Sleepless Nights

The pattern has repeated itself night after night for almost a week. I need to figure out how to disrupt it and clear the debris. I can only hope that my scorched psyche will heal once I empty the crazy in my mind. Writing has always been my cheapest form of therapy. For my sanity and the sanity of those around me, let this process work.

The usual menopause ritual has been the same for months. Night sweats and hot flashes spring on me, with regularity around 2 am, to disrupt my precious slumber. While not the loveliest way to wake up, I can usually get out of bed, change my jammies, drink some cold water, and return to my priceless slumber. The dogs occasionally add a step or two to this ritual, but I get more sleep. For the past week, the 2 am menopause wake-up call has marked the end of my sleep cycle for the night. What the heck is up with that? I blame it all on Karin Slaughter. Damn her.

I protect my mind and emotional well-being by avoiding watching anything scary or disturbing. I just don’t do it because it sticks with me. You will not catch me watching a horror film unless forced, and I have been forced, or at least coerced. (Thank you, Christy, for insisting we watch Carrie in my room when we celebrated your birthday. The boutique hotel had a weird, retro vibe. Did I mention the room had creepy ceramic clowns everywhere? When the movie ended, Christy returned to her room to sleep—I stared at the ceiling until sunrise.) I try to avoid anything that is going to disrupt my inner peace.

While I avoid watching horror movies or gory shows, I read books in every genre, including thrillers. Last year I read a couple of Karin Slaughter books. I read Pieces of Her and Girl, Forgotten.These books were graphic and full of gore, and I read them without damage. I have a gift, call it a superpower, that emerges when I read graphic novels. My mind does not absorb the horror on the page. My psyche is protected in a frosty bubble that glosses over the horrific scene the author describes. I can tamper down the images in my mind and dull the impression. This superpower has allowed me to enjoy the occasional thriller without trauma.

Thrillers and murder mysteries, especially ones with graphic violence, are few and far between in my reading queue, yet, something in Slaughter’s writing calls me back for more. Her characters are well-developed, and Slaughter is a great storyteller. The latest novel I read, False Witness, was Kryptonite to my superpower. (I want to curse like a sailor or my mom, but I will do my best to suppress dropping an F-bomb.) I finished this novel over a week ago and haven’t slept more than 4 hours a night since. I might lose my sh*t if I don’t figure out how to reclaim my inner calm in the chaos.

Every time menopause has knocked me from my peaceful slumber this past week with flames of fire, freaking Karin Slaughter’s mind-twisting, disturbed, tortured cast of souls has come along for the ride. I mean what the actual H-E-double chopsticks Karin?! These sisters and the twisted serial killer (a boy the girls used to babysit) have hijacked my mind in the middle of the night. For some reason, this novel hit home and struck a chord. Slaughter’s characters are relatable, and I find a hint of my younger self in the sisters. I babysat at a very young age, grew up in extreme poverty, and experienced abuse as a child. Any parallels end here. The extreme pain, heartache, depth, and depravity of their suffering are next level, and I cannot shake off the lingering uneasiness.

I keep reminding myself it is just a story. The girls aren’t real. The serial killer and his evil father are fiction! I wonder if any of the kids I babysat became serial killers. I did watch neighborhood kids whose father was a homicide detective. The dad was odd, but after reading these damn books, I get it. I understand why. Did his kids witness things that screwed them up for life? These are the thoughts stealing my slumber.

Last night, I never fell asleep. My husband is camping, and my son texted me at 1 am to tell me he was staying at his friend’s house. Like a Garth song, I Ain’t Going Down ‘Til the Sun Comes Up. Tonight, or this morning, I would be awake and waiting for the hot flashes to visit. I sat in bed, opened my phone, and searched for information on Karin Slaughter. I had to find out more about this woman who stole my superpower. It turns out she had a typical upbringing, or so she says. With the stories she tells, can I really know for certain? One article talks about her ability to write stories that are not easy to forget. You think about the characters long after the story ends. Heck yeah! Karin sure as heck does.

At 5 am, it was 4 am yesterday (dreaded springing forward foolery), I decided to take the senior poodle outside to potty and then try to catch a little sleep. Isn’t some sleep better than no sleep? Sleep never happened. After tossing and turning for another hour, I grabbed my freshly charged-up iPad (my favorite place to write), refilled my glass with water, completed the daily Wordle (gotta keep my tired mind fresh), and decided to start writing. I will write to clear my mind. I am hoping it will help remove the scorched soil. I will then plant fresh seedlings and guard them against the elements. My reading choices will contain fluffy romance novels and self-development books for the unforeseen future. Sorry, Karin. While I love you, like Ross and Rachel, it is time for us to take a break.

Creating a Moment of Care in the Chaos

Photo by Brett Jordan: https://www.pexels.com/photo/close-up-shot-of-scrabble-tiles-on-a-white-surface-5721049/

Raising children is accompanied by a list of never-ending tasks. The to-do list is never finished. When our child (or adult) has complex developmental or intellectual disabilities, the list is long. We are expected to work a full-time job, maintain the home, transport our kids to countless therapy and medical appointments, along with school and homework, and make sure our family is fed at least one balanced meal. (One that doesn’t include someone asking if we would like fries with that.) Did I mention the laundry? Well, that never ends too. It is a lot. It can feel overwhelming and impossible. We then turn on the television or open our social media to catch a moment of normalcy, only to be bombarded with memes, commercials, and reels taunting the importance of self-care. Everyone is preaching to us to fill our cups first, and we must learn to manage our time better and ask others for help. We put a checkmark beside GUILT on our mental list of inadequacies as parents, employees, and partners.

How do we make it work? How can we take care of our partners, children, job requirements, our homes, and have anything left for us? How can we be expected to be our child’s therapist, nurse, parent, Lyft driver, maid, personal shopper, and take impeccable care of ourselves too? The truth is, we can’t. The pace is not sustainable, but how do we change things? Many of us do not have a network of support or respite workers. The supply of qualified care is short, and the demand is great. Some parents, especially in rural areas, do not have access to agencies and services to provide support. Many do not have money to pay for caregivers to provide respite.

The effort required to create time to care for ourselves can be taxing and exhausting, and we have no energy to even attempt it. Many parents give up even trying. I spend many hours procuring care for Emily and making plans for her. She gets so bored being with me. There are days when all she does is whine for hours. She protests in her own way being stuck with me. Those days are often the most difficult (and also why I keep a pair of noise-canceling headphones in my possession).

I am persistent enough to keep looking for caregivers to not only provide care for Emily but who are willing to entertain and engage with her. Emily loves having caregivers that are closer in age to her. She wants to engage in the typical activities of a young adult. Go out shopping and go out to eat. She wants to be on the go and out of the house. I get it. She is twenty-two and ready to groove. I am also flexible and know that sometimes caregivers will cancel or be unavailable when I need someone. I adjust accordingly and get creative.

I don’t let the difficulty of the task deter me from trying. My sanity depends on me getting breaks. Little breaks daily and longer breaks whenever possible. Caring for Emily 24/7 is exhausting and often not rewarding. I do it because I love her and want the best for her. I also want the best for me too.

Even when I cannot get away from caring for Emily physically, I can mentally. There is no excuse for me not to give myself some respite every day. Even if it means I daydream that I am on a beach in Greece, soaking up the sun while staring out the kitchen window as I wash dishes. It can be dancing around my living room with reckless abandon as Emily looks on with amusement and maybe even a giggle that makes my heart smile. Self-care can be seeking a moment of gratitude in the most challenging tasks. (These usually involve excrement of some sort. Oh, the joy!) I take a moment. I am lucky to have a washing machine and hot water. I am thankful for gloves and a handheld shower sprayer. I am grateful for sheets and diaper wipes. Oh, how many times I have expressed gratitude for diaper wipes! Someone told me once that even when you cannot take care of yourself physically, you can always care for yourself mentally. I find a way to nurture my mental well-being every single day.

Everyone around us is screaming for us to take care of ourselves. If we don’t, we will burn out. We feel guilty if we do it. We think caring for ourselves means we must stop caring for our loved ones. That can feel true. It is also true that we can find ways to nurture and care for our souls while we are caring for our loved ones. We can learn and practice escaping in our minds. Remember daydreaming? We take a break in our souls. We take a few minutes to pause, breathe, dream, and create the feeling of calm or joy we desire. It isn’t as hard as we make it. Think about someone or something that makes you smile. Picture a giggling baby, a kitten, a puppy that befriended a duckling (I just saw this and it made me feel happy), a loved one that made you feel loved and nurtured, or a bird singing outside your window. The sky’s the limit! As you picture something in your mind that makes you smile or feel good, notice a sense of calm creep in. It might be fleeting, and that is okay. Every time you take a minute to change your emotional state from the inside, it will begin to improve on the outside. I do not live a life where I can physically care for myself whenever I want, but I can always take a moment to find something to be grateful for in a moment of struggle. Sometimes, it might just be letting out a long exhale. Oh, the beauty and joy in the exhale.

The Gift Of Unlearning: Raising a Child with Intellectual Disabilities

Photo by Ivan Bertolazzi

I remember the day Emily was born. She came along twenty-two months after her brother, Justin. It was such an easy delivery. The doctor barely arrived in time to catch Emily as she emerged from the safety of my womb. I remember teasing the doctor that she shouldn’t get paid to come in just in time to catch my girl. We had a good laugh. We did not know with certainty that we were having a girl. (Justin was always certain he was getting a baby sister.) Dr. Schwartz asserted that she knew Emily was a girl because her hand was the first body part to emerge. “The girls always come out with their hand out first”, she said jokingly. This was the setting of my delivery. It was fun, laughing, joking, and calm. The vibe was high. The delivery was wicked fast. Emily was perfectly healthy.

Emily’s delivery was such a contrast to her older brother’s birth. Justin was in fetal distress. The umbilical cord wrapped not once, not twice, but three times around his neck. The delivery process was too far along to do a C-section. He was vacuum extracted, and he was not breathing. I was terrified. Todd wasn’t able to cut the umbilical cord, and the doctor apologized for this, but Todd didn’t care. He just wanted Justin to be okay. The doctor passed Justin to a team that was waiting. As I looked at his incubator, I could not see Justin. I only saw a sea of yellow blocking the view. Justin was surrounded by a medical team trying to get him breathing. I kept asking if he was okay. My mom and Todd kept telling me everything was fine, but I refused to believe them. As the doctor began stitching up the incisions she made to expedite Justin’s entry, all I could do was cry and pray he would breathe. When he finally let out a cry, I finally exhaled.

I have reflected on the tale of two deliveries for years. Justin, while having a challenging time coming into the world, was not impacted by it. He is brilliant and physically healthy. Emily’s birth, while easy and uneventful, was followed by challenges. She has both physical and intellectual disabilities. I remember when my healthy baby girl began to lose weight, and I sensed she had some physical delays. The fear of anything being wrong consumed my thoughts. When one of the specialists we saw thought that Emily might have Cystic Fibrosis, I was terrified, but I believed it was something I could handle.

With great clarity, I recall the conversation Todd and I had after Emily was tested for CF. As we shared our worries and fears, I distinctly remember telling Todd that I could handle anything that might impact Emily’s physical progress, but it would devastate me if she had cognitive delays. As long as Emily could talk, we would be okay. I believed that an inability to communicate with words, or read, or write would be the worst thing. I love conversation and I believed having a child that was unable to do that would be impossible to process. What kind of life would that be without words? I didn’t think I could handle Emily having an intellectual disability. Twenty-two years later, Emily’s intellectual disability hasn’t crushed or destroyed me. I was so wrong.

I understand the woman I was when Emily was born and the biases I had. My parents valued education. Intelligence was associated with your worth. My mom never gave a damn about looks or status, but she did care if you could conjugate verbs and articulate well. It wasn’t just my parents, but society values intelligence and education. Often individuals that are unable to speak to communicate and express themselves are looked down on. The intellectually disabled are often seen as “less than” by society. I am ashamed that I once shared this view to some extent.

Emily shined a bright light on my beliefs and helped me see just how flawed my views, the views of my parents, and the views of society are. She has challenged the validity of my thinking and proved that her intellectual disability is not something I could not handle. It did not need to be fixed. She has shown me that her gift and worth are equal to every other human on this planet. Her worthiness is not dependent on her IQ or ability to write an essay or recite a poem. She is worthy and whole exactly as she is. I am proud that Emily has taught me to see things differently. She has expanded my views and changed my perspective. I have learned to unlearn. It is my hope that Emily and others that walk a similar journey help others unlearn too. As we unlearn things we think are true, may we grow in our ability to accept each person fully and completely as they are.

Dancing in Disconnect

Photo by Kostiantyn Li on Unsplash

This past weekend, Todd and I decided to take the family camping for the long weekend. Justin wanted to stay home and have friends over, and he agreed to care for our senior poodle, Coco. We chose our location and planned our meals. I prepared all the things needed to take Emily on a road trip. We spent Thursday night loading up the trailer and finalizing the details. 

I was up before the sun on Friday to prepare Emily’s food for the day and pack last-minute items. In the middle of this work, Coco vomited in the hall. As I was cleaning up the mess, she got sick again. She has always had a sensitive stomach, and while I was feeling bad for her, I also was annoyed because it was not on my list of things to get done to leave. Todd appeared soon after. I greeted him but my tone conveyed I was annoyed. He presumed I was mad at him, and things went downhill from there. I tried to explain that I was just frustrated and he had nothing to do with it, but my words were not registering. 

The cloud of annoyance and frustration followed us to the campsite. Todd remained distant and curt, and I focused solely on Emily. This dance of discontent and distance proceeded for the next twenty-four hours. On Saturday evening, I demanded we have the campfire we had planned. (I didn’t care if it was the last thing either of us wanted to do.)

After I got Emily in bed, I poured a glass of wine and went to sit by the empty fire pit. My thoughts were racing. We are not on the same page, and this is frustrating me. We may not be on the planet at this point. I think we are in different solar systems! I just want to pack up and go home. We usually connect well when we camp. We get away from the noise, work, and responsibilities. What is going on? We have to talk about this and clear the air.

Todd, seeing me alone, decided to come outside. He silently went to work to build a beautiful fire. He made sure it was perfect. I knew this was his way of meeting me in the middle. He came and sat next to me and touched my hand. It’s now or never. Let’s open up and see what happens.

“We haven’t really been communicating well this weekend,” I said.

“You’re right. We haven’t,” Todd replied.

The simple act of naming and claiming it created an opening for a conversation. We created a space for each other. As we watched the sun begin to set and the stars started to grace us with their presence, we began to speak to each other, and more importantly, we listened. I thought about the past week and getting a diagnosis for Emily. It was big news for both of us, and while I was elated and overjoyed, I never stopped to ask Todd how he felt about it. I spoke to everyone else but not to him. I asked him about his thoughts and feelings. We shared openly about it. Todd is still processing having the diagnosis and what that means. I, on the other hand, am off to learn and connect. 

As the stars enveloped us in a breathtaking display, I was humbled. I recognized my part in the disconnect and miscommunication. I understood that Todd and I did receive the same news, but how we might process it would be different. We mostly sat silently after the Emily diagnosis chat, but I felt closer to him. Todd and I were sitting together and holding hands. We shared a dazzling display of the new moon sky full of stars. The Milky Way was the backdrop to clearing the air and showing up for one another in connected silence.

Ursala Major (The Big Dipper)

Note: I am not, nor do I claim to be an expert on marriage. After 30 years, I consider myself a novice in the skills of marriage. I am grateful to my friend Amy, who is a licensed therapist. She recommends The Gottman Institute for free and valuable relationship resources.

Todd and I worked on this together

Finally Diagnosed: A Twenty-Two-Year Journey

Photo by Sangharsh Lohakare on Unsplash

In 2020 I was a guest on the podcast Once Upon a Gene. The host and I had a long discussion about Emily’s undiagnosed journey. I was very clear with the host (and now friend), Effie Parks, that I was okay not having a diagnosis. I knew a diagnosis was not going to change Emily or “fix her” and our family has an amazing support system. Despite my contentment with Emily’s undiagnosed status, Effie encouraged me to get updated genetic testing for Emily. “Science has changed a lot in 20 years. Don’t settle for a BS cerebral palsy diagnosis if it doesn’t fit Emily,” she said.

After that conversation, I thought about what Effie had said. Emily had a typical and healthy birth. She had an Apgar score of 10. It was picture-perfect. Nothing about a cerebral palsy diagnosis ever made sense to me but I rolled with it. I decided that at Emily’s next neurologist appointment, I would discuss getting authorization for a geneticist. Dr. Dyes agreed it was time to see if science might now have an answer they didn’t have in 2001 and 2002. She put in the authorization. The process of authorization for testing took two years.

The cheek swabs were done in November of last year and sent to the laboratory for processing. In December 2022, I got an email that there were new results in Emily’s MyChart. I logged in only to find I could not see or access the results. I left messages with the geneticist’s office and emailed the geneticist. On January 9th, 2023, I got an email from the geneticist that someone would be calling me from genetics to set up an appointment to go over the testing. The call never came. More messages left and nothing.

Last week I reached out to the company that processed the DNA samples, GeneDX ,to request the results. The customer support team was phenomenal. They sent me some forms to complete to authorize the release of the reports. Less than a week later, the results arrived in my inbox. I printed out the reports and studied them. The report for Mitochondrial Disorders / Sequence Analysis and Deletion Testing of the Mitochondrial Genome: NEGATIVE. My heart sank. Then I saw a second email that followed. I opened it and this one read Diagnostic Testing / XomeDxPlus / Clinical Exome Sequence Analysis: POSITIVE. Did I read that correctly? It says positive? I read through the report a few times but did not fully understand what I was reading: 

I emailed the report to a contact I made at the Global Genes Patient Advocacy Summit last year. (Dr. Shruti Mitkus was on the panel I spoke on regarding the undiagnosed journey.) Dr. Shruti Mitkus is the Director of General Education and Navigation at Global Genes. She confirmed that the testing did find some answers and offered to explain how to read the report. She spent almost 30 minutes explaining each column and defining each term used. She was kind and supportive. She did not give me any counseling or advice. Shruti just explained everything in simple terms I could understand. I am very grateful for her time and the support of the incredible organization she works with.

Emily has TBR1-related neurodevelopmental disorder. There are several different variants that are associated with the TBR1 Gene. Patients with the T532Rfs*144, which Emily has, seem to have the most severe intellectual and developmental delays. Now that I had a diagnosis and some information about the disorder, I searched Facebook for a TBR1 group. I found a group and requested to join. I introduced myself and Emily in the introduction thread. The group administrator asked me to share Emily’s variant and I did. Within minutes, she connected me with 9 parents in the group that have a child with the exact same variant. While this disorder is very rare, I was able to find others that have it. In just a few minutes I was making connections to other moms raising a child with the same genetic disorder as Emily.

I was surprised at the emotions that surfaced. I was overcome with a tremendous sense of gratitude that there are other parents that have traveled a similar journey. As I scrolled through photo after photo, I thought WOW! Genes don’t lie. I cried after reading a post about two moms that have daughters with the same variant as Emily. They traveled with their daughters to meet in person and shared a few photos from the meeting. There is a photo of the 6-year-old girl being carried with her legs dangling to mom’s knees, and the 29-year-old in her wheelchair with her mom behind her. Both girls have chewy necklaces in their mouths. Both girls have long, skinny hands and fingers. It was like looking at the past and the future in one square photo. (Emily is being carried on my hip at 6 and Emily is in her wheelchair with me in the near future.) It was clear by my reaction to the images and stories I read, that I desired an answer more than I realized. We all want to know we belong somewhere and that we are not alone. The diagnosis, while not going to change anything, gave me that for Emily. She is not alone and she belongs. There are others that share her rare genetic disorder.

I will be sharing more about TBR1 as I learn more. For now, I will bask in the joy and gratitude of finding a group that I can connect with about struggles, joy, symptoms, and concerns on our not-so-typical and NOW DIAGNOSED journey.

Experiencing a Heart Smile

Photo by Danny De los Reyes on Unsplash

What makes you smile? That was the question we pondered in our listening circle group today. It was an easy question for me. “The better question to ask me is what doesn’t make me smile? I smile all the time. I smile at puppies, kittens, babies, commercials, and my kids, and when I connect with others. I am a smiler.” Is smiler even a word? Well, it is now. 

I smile often. I smile freely. Thinking of something that brings me joy makes me smile and smiling often makes me think of something that brings me joy. It goes both ways. Smiling is a universal language. It is a way to connect without saying a word. It requires no words and it expresses so much. My mom taught me there is a lot of power in a smile.

My wise and wonderful friend, Patti, shared a powerful encounter she witnessed that made her smile. She described witnessing an interaction between two strangers. She called this type of smile a “heart smile”. I wrote the term down right away and drank in what she shared. There is power in the smile we share as we pass a stranger. The physical exchange of energy without words or interaction. There is also a smile that emerges when we bear witness to a beautiful human connection or interaction. This is a smile that grows from the heart and erupts onto our faces. It warms us from the inside and we express the warmth in a smile or grin.

Things that make me HEART SMILE:

  • A babies giggle or smile.
  • When someone takes time to engage and interact with Emily, knowing she will not reciprocate in a way that is expected. They do it anyway.
  • The dentist that wants to ease Emily’s anxiety by doing the exam outside on the grass to make her more comfortable.
  • Justin reading his 3rd grade essay in front of the school about his love and admiration for his younger disabled sister.
  • Todd buying new plants for “my garden” and spends hours toiling in the soil on his only day off to bring me joy.
  • A half-day retreat with 30 We Are Brave Together women connecting, sharing, and giving their souls some much needed love and compassion.
  • Experiencing Emily’s laughter or smile. (Something she does less as she ages.)
  • My dogs’ energy and excitement when I walk into their presence. (Even if I was just there 30 seconds before.)
  • A text or a call from someone I haven’t talked to in a while to tell me they were thinking of me.
  • My husband getting Emily ready for bed so I can write, read, or rest.
  • Live music shared with strangers. Everyone is connected by sound and energy.
  • Justin cheering Emily on as she tries to get something that requires her to crawl.
  • When my friend sees that Emily’s scarf is getting tattered and makes a new one.
  • It is an unexpected card in the mail.
  • It’s a neighbor sharing the bounty from their lemon tree with those walking in the neighborhood.
  • It is the woman who lives a few blocks away that runs out to greet Emily and give her a hair clip or flower.

As I complete this sparse list of heart smile memories and moments, I am smiling. The feelings and energy of these experiences and exchanges are fresh in my mind, in my heart, and reflected in the mirror with a big ‘ole toothy smile.

What makes your heart smile?

Different Path and Different Journey

“Normality is a paved road: It’s comfortable to walk, but no flowers grow.”-Vincent Van Gogh 

Photo by Will Francis on Unsplash

Cradled in her arms is her first grandchild. At two months of age, Wyatt craves the comfort of a warm embrace and the sway of arms that hold him while he sleeps. As I watch Patti gently rocking Wyatt to sleep, the memories of my children as infants emerge from the depths of my consciousness. Holding a precious, tiny, and vulnerable human is an incredible experience. The infant depends on another human to meet every need. We hold them knowing that this is just a temporary season. One day they will begin pulling away from us and demanding independence, freedom, and autonomy. 

Patti and Wyatt

Someday they will be able to express their wants and needs. For now, we try to figure out what they cannot yet tell us. Are they hungry? Are they thirsty? Are they tired or overwhelmed? Do they need to be changed? Do they have gas or is their tummy upset? It’s a guessing game, until one day it isn’t. One day they reach for the bottle or cup on their own. One day they pick up the Cheerio or cracker and pop it into their mouth. They begin to see themselves as separate from you. They are no longer dependent on others and can begin to make decisions for themselves, or at least that is the natural progression for most children. 

As the memories of both my kids as infants and toddlers surface, I am also reminded of the moment, or moments, when each of my children got to any fork in the road. One child always traveled the asphalt trail that was clear of obstacles. His path was easy. It was smooth, straight, and easy to walk. Justin began to drink from a cup and learned to fall asleep on his own. He began walking and talking. His problem-solving skills continually developed and his desire for independence emerged and grew with each success. It was a typical path with mile markers and clear signage to guide him on his journey.

Emily turned down the other road. This path, not well marked, was overgrown with bushes and trees. It required clearing the debris along the way in order to go any further. Many stops had to be taken to rest as the journey was hard, at times impossible. There weren’t any maps or guides to help her traverse the terrain. It was too difficult for her to travel alone. She was unable to walk the path and had to be carried every step.  The trail requires maximum assistance to travel and some parts will never be experienced as the difficulty is too great even with help.

There are years that pass without seeing any signs or mile markers. She crossed mile marker two before ever drinking from a cup unassisted or sleeping through the night. She began to crawl somewhere between mile marker three and four. At mile marker 22, she still requires help to drink at times, someone must assist her to eat and she depends on medication to sleep. Now too large to be carried, she must be pushed in her wheelchair. She will never be able to travel this road solo and experience the freedom and independent travel others experience. Yet, this journey, this path, is never boring or mundane. It is always challenging, and exciting, and the scenery is unique.

The journey started the same with both of my kids. I remember holding them, rocking them in my arms, and counting their fingers and toes. The beauty of caring for them and assisting in meeting every need. It was beautiful and satisfying to watch Justin find his independence. But that was not the path for Emily. She will always need me (or someone) to assist her in meeting her needs. Her journey will never lead to her independence, and her path will often be challenging and difficult. We will continue to learn and grow as we travel with her. While this path is difficult, and the trail often treacherous, it is also beautiful. The flowers are fragrant and unique. The views often stunning. This trail has introduced us to guides, angels, opportunities, and lessons we would have missed had Emily traveled the easy, paved, and well-worn trail.

The Urban Farm Era Coming to a Close

Last week as I processed the pearl-sized loss of my goldfish I got hit with another small loss. On the anniversary of my dad’s passing, my sweet Tinkerbell was taken from the coop by raccoons. Tink was a beautiful bantam Buff Brahma that we acquired in June 2016. A result of a very cruel senior prank at Emily’s high school. The seniors thought it would be cute to release baby chicks, chickens, and other animals on the campus. I am not sure what happened to all the animals, but our family adopted two bantam chickens to add to our crew. Siouxsie, a Frizzle Cochin that had wild feathers that went every which way. She reminded me of a punk rocker from the 80s. 

Many of you may not know that for years we ran a sort of urban farm in our backyard. Our yard, complete with a swimming pool and deck, also housed several chickens, a garden, and a compost station. I was not down for any of it, except the chickens. My friend was tired of being the only one in the family to care for her chickens, so she decided to rehome them. Todd and I jumped at the chance to have chickens. She gifted us with the coop, food, and 3 lovely hens. These chicks quickly changed the landscape of our yard. Todd continued to grow the space they could consume in the yard. He built a shed to store all the “stuff” that comes along with chickens, composting, and crops (well, a small garden of yumminess).

For years we had more eggs than we could ever use in various colors and hues. Our family shared eggs with anyone who would take them. (I wish we had an abundance of eggs today!) We had 7 hens at one point. That was the first time the raccoons got in. I came home from work to a massacre. Tink and Siouxsie were hiding in the nesting boxes and were safe. Two of the hens were gutted and I was devastated. As I went to access the situation, I saw one of the hens walking but she was bleeding from her neck. I was trying to assess her condition when my neighbor yelled over the fence for me to look out. On top of the chicken coop was a large raccoon on his back legs hissing at me. He was less than two feet away. I grabbed the only thing I could find (a broom) and drove him away. 

Thankfully, Todd arrived home soon after and took over triage, and cleaned up the scene of the crime. He and a few neighbors also went on a hunt to avenge the death of my girls, but the raccoon was sly and got away. The following weekend Todd completely enclosed the chicken area so raccoons could not get back in again. That seemed to work until this past week. I think the raccoons opened the nesting box and snagged her based on the evidence left behind. 

Several years ago we gave up on the composting endeavor. We gathered more critters than this city girl was ready to interact with. A couple of years ago the garden was replaced with my sauna, pomegranate tree, some herbs, and a tiny lavender field. We decided not to replace the hens as they passed. All that was left of the urban farm was Tinkerbell and another chicken that I could not even name after the raccoon massacre. Now I am caring for a solo senior hen that is probably lonely and sad without her frenemy, Tink. 

This week brought back lots of memories that have been buried. I often share that I am grateful when a lost memory trickles up from the archives. It is comforting. I am also reminded that change is the only thing that is certain. Seasons change and our circumstances change. As the season of caring for a plethora of pets closes it opens the door to a new season in my life. I am excited to live my next adventure.