Meet the Blacks

Note: Our family met the Black family at the Angelman Family Conference. We are so thankful we met them. They were kind enough to share their journey on the blog. When I started this blog, I did it with the intention of giving a platform to Angelman families. I wanted to give families the opportunity to be heard. Betsy was kind enough and brave enough to share her family’s story. I cannot thank her enough. It has been a joy to cheer their family on and we cannot thank them enough for being in our corner.

When Adam asked me to write a guest post on his blog, I agreed, because I love reading his posts, and I love bringing awareness to Angelman syndrome. After I realized I had to choose my topic, I panicked a little because I had no idea what viewpoint I could possibly bring to the AS community that hasn’t been covered. This is a good thing, because it means that all of the amazing work that the Angelman Syndrome Foundation does, and all of the beautiful groups, literature, webinars, and trainings that they provide have been incredibly informative and supportive for our families!

The other day, I listened to the “newly diagnosed” podcast in the car while my daughter was in OT, and as I was smiling to myself and agreeing out loud with Amanda, Kathryn, and Liz, I realized that a major difference between myself and these rockstar advocates who have paved the way for families and individuals affected by AS is that their oldest children were the ones with the same diagnosis as my youngest. I am going to talk about how I believe this has shaped my family’s past two years since Sophie’s diagnosis.

We are fortunate because Sophie is a good sleeper and she doesn’t suffer from seizures, but I also think that having older kids and getting the diagnosis kind of late (26 months) has helped our family to have mostly positive feelings about everything because we see Sophie’s determination and we know just how hardworking and intelligent she is, and that gives us hope.

My husband, Jared, and I have been married for 17 years. We met as students at Texas A&M University in 2001, became best friends, started dating, and married in 2005. We have the privilege of raising our four beautiful children: William, 15 next month, Henry, 13 next month, Vivian, 10, and Sophie, 4.

The six year gap between the girls was not intentional. We had two devastating losses between Vivian and Sophie. First, I had an ectopic pregnancy that ruptured in June 2016. A year later, we got pregnant again. I was over 35, so we decided to do the blood test at 12 weeks to find out the gender. We honestly didn’t even think about genetic abnormalities since we knew we would love and raise our baby no matter what.

We found out that I was carrying a little girl, and we named her Emily May. It was such an exciting and hopeful time for us. When we announced the pregnancy to the kids, one of our boys, who were 8 and 6 at the time, asked us if Emily had made it out of the Fallopian tube and into the uterus yet. I remember thinking it both neat that they understood the miracle of life and sad that they knew the details because of my previous loss.

My pregnancy went by with no issues, and when Jared wasn’t able to make it to the 20 week anatomy scan, I told him it was not a big deal since we already knew she was a girl and she didn’t have any genetic abnormalities. It was during the scan that my doctor and I were shocked to find that Emily was no longer alive. The little girl that we’d prayed for and rejoiced about had died before we got to meet her.

Jared came home and we told the kids, and then we went to the hospital so I could deliver Emily’s tiny body. Afterward, Jared and I held one another and cried, and we agreed that we couldn’t do this again. It was too hard. That was September 7, 2017.

At the end of the year, Jared told me that he didn’t feel like our family was complete. I had felt the same thing but didn’t want to speak up. After consulting with my OB, who said that we were cleared to try again, we found out we were expecting in February 2018. Again we did the early testing and found out that we were having another girl and her test results were normal. We were cautiously optimistic, and I had a very easy pregnancy, especially since my wonderful OB knew how nervous I was, and she snuck me in for sonograms at every appointment.

At 37 weeks, I had a scare where I didn’t feel her moving for a while, so we went to the hospital for monitoring. It was determined that she had IUGR, and I was scheduled for an induction the next day. The induction went slowly and ended up with a c-section to bring our tiny (5# 1oz) and precious Sophie Claire into the world.

Recovery from the c-section was not bad, mainly because I was just so happy to have a baby in my arms and for my older kids to have a healthy little sister to snuggle. Jared and I spent the next three (he says six!) months trading off sleep and sitting in the living room holding Sophie upright while she screamed in pain from reflux. It wasn’t a huge surprise because our older kids had varying degrees of reflux and required medication, but Sophie’s was off the charts painful (for all of us!) and the medications did little to relieve her.

Around five or six months, we were finally able to get her to sleep, and we were so grateful. We noticed she wasn’t as strong or interested in moving as our older kids were at that age, but she had missed out on lots of tummy time because of her reflux, so we kind of chalked it up to that.

At eight months, we noticed an eye wander, and we knew exactly who to call because our oldest developed an eye turn when he was three, and we’d gone through a year of patching and visits with the pediatric ophthalmologist before William had his strabismus repair surgery. I remember scheduling the appointment and thinking that I hoped once her eyes were corrected she would start to plow through all the milestones. When we saw Dr. Norman at nine months of age, he diagnosed her with strabismus and farsightedness. In addition to patching, he wrote her a prescription for glasses. They arrived when she was 10 months old.

Sophie turned one in October 2019, and after two months of glasses and PT, she was still unable to sit herself up unassisted, though she could stay sitting for a while if we placed her in that position. At her checkup, her pediatrician noted that she had some motor delays, but since Vivian had been a late walker (17.5 months!), and since Sophie was in PT, she said we should come back at 18 months to check on the more concerning issue: her weight! She was only 16.5 lbs at one year old.

When we returned for the 18 month visit, the world was basically shut down for COVID. I felt like canceling the visit since we’d invested in a baby scale at home, but the nurse on the line encouraged me to bring Sophie in, and I’m so glad we did. Her doctor was stumped that Sophie was still so small and delayed, so she wrote referrals to all of the specialties: genetics, neurology, endocrinology, and cardiology. We lucked out because a lot of these specialists take months to get appointments with, but they all had cancellations, and we were able to make the rounds in about two months.

The only abnormal result we got was Sophie’s brain MRI. It showed that she had a Chiari I Malformation, a congenital condition in which the skull is too small, causing brain tissue to extend into the spinal canal. It causes severe headache and neck pain. Apparently it often goes undiagnosed. With this information, we again hoped we’d found out the cause of her delays, and we scheduled with a neurosurgeon who specializes in CM. While we didn’t want Sophie to undergo a decompression surgery, we hoped it might alleviate any pain she was having that we didn’t know about and would help her to thrive. The neurosurgeon looked at her scans and agreed she had CM, but he didn’t think it was a bad case, and he didn’t want to do surgery on such a small person. By 18 months, she was still under 20 pounds.

After Sophie turned two, I had a zoom checkup with her neurologist. He asked a ton of questions and watched Sophie scoot around her room on her bottom. When we were about to end the call, he said, “well, let me know if she starts having seizures and we can run a cerebral palsy panel.” I didn’t know what this entailed, but I asked, “Can we please just do the test now BEFORE seizures may start?” He agreed, and a buccal swab test kit was mailed to our house. I swabbed the inside of each of Sophie’s cheeks, being careful not to touch her teeth or let her bite the swab, and we ran the test to the nearest FedEx.

Two months later, her neurologist called to let me know that Sophie’s test results had come in. Jared couldn’t be home, so I recorded the call. It was just under 11 minutes. He said, “she has a pathogenic change in the gene that’s associated with Angelman syndrome, which can present with early hypotonia, delayed development, usually delayed speech, and a lot of these children develop seizures.” I’d never heard the words “Angelman syndrome,” but my heart was simultaneously rejoicing that we’d found some answers and that we knew what we were dealing with, but also crushed to hear that our child had a genetic syndrome that will likely cause seizures. He followed up with, “One thing to know about Angelman... cause you’re gonna read about it, and I mean, it’s not great by a longshot. Most all the kids are intellectually impaired. Many of the kids don’t develop speech, and a lot of them have seizures. However, Angelman is one of the things that’s very close to having a genetic treatment. I would think within a couple of years we’ll have something. Drug manufacturers are noticing because it affects a single gene.” We ended the call, and I hugged Sophie tight and told her we were going to be okay, though I wasn’t sure at that time how we could be.

That night I couldn’t sleep, and I cried to Jared that I didn’t want this to be true for our girl. I wanted so much more for her. And then it hit me: Sophie is not here by accident. She was planned and wanted, and she defied the odds to make it here alive after our previous losses. God made her exactly who she is meant to be. She is the same person we fell in love with on October 5, 2018, and we are going to do everything we can to make sure that she lives the best life possible.

Jared found the ASF Wall of Accomplishments soon after diagnosis day, and was so excited to show me all the cool things that individuals with AS were capable of accomplishing. That was very uplifting, and it was the start of our embracing this diagnosis and getting involved. On January 2, 2021, I had a call with ASF CEO Amanda Moore, and she was the first person I was able to tell that my child had AS. She asked me how I was doing, and choking back tears, I told her, “I don’t really know yet.” We had the best conversation, and when I got off the phone with her, I was armed with information and HOPE! It was that conversation that prepared our minds and our hearts for telling our family and friends about Sophie’s diagnosis.

First, we told Sophie and her older siblings at dinner one night. They knew that she’d been working hard in PT and speech, and that we’d been seeking reasons for her delayed development. We explained that Sophie had one tiny gene that was mutated and it affected her speech and movement. We told them that she might not ever walk and that she might not ever talk, and that she would live with Dad and Mom forever. The kids handled it well, and Vivian (8 years old at that time), asked “What happens to her when...” and we realized she was asking what happened when Jared and I are gone. William (13 years old), said “well I’ll probably be married by then, so she can live with my wife and me.” Although we would never expect him to spend his adult life caring for his sister in our absence, that statement reiterated what was simple enough for our children to understand: Sophie is the same person today as she was the day before we knew her diagnosis, and we love her and the JOY she brings to our lives. God knew exactly what we needed, and she is the piece our family was missing.

The two years since Sophie’s diagnosis have only brought more joy and happiness. She continues to work hard in her many therapies each week. She goes to preschool every morning until noon, and after school she has therapies each day except Friday. She loves all of her therapists, teachers, and classmates, and her therapy center and riding center have become extra family for us. They love Sophie so much (I mean, it’s impossible not to love this ball of joy!), and they celebrate all of her achievements right along with us! One great thing about being told what your child MIGHT NOT be able to do is that it makes the achievements so much sweeter when they DO happen.

I have heard that diagnoses such as Angelman can be isolating. Luckily, we have experienced something much different. Our community has grown exponentially since Sophie’s diagnosis. Our family and our friends from church and school have jumped right in to fundraise for the ASF with us, and volunteer or participate at the ASF Walk. They’ve celebrated Sophie’s victories, as well as prayed for her and for us as we continue to learn about our rare girl. One time when I checked my son’s phone, I saw he’d sent a link to a news interview that included Sophie during her hippo-therapy session. He sent it to multiple friends. All of the friends responded “She’s so cute!” or “Yay! Go Sophie!” These were 14 year old boys in high school! She makes our family better.

In addition, we have made some of the most incredible friendships with other families navigating this same syndrome. Shortly after Jared showed me the wall of accomplishments, I found a video of a precious little girl learning to crawl. She had three older siblings behind her, cheering her on. I thought to myself, “This looks so much like what goes on in our household.” Then, I took a peek at the caption: “Lola, Fort Worth, TX” We live in Fort Worth, TX! I did some Facebook sleuthing, and I reached out to Lola’s mom, Chelsea. I sent her a message saying I hoped I wasn’t creepy, but I’d just received an AS diagnosis for my daughter and I would love the opportunity to meet her. It turns out that Lola’s family lived one mile from us. Chelsea and Lola have become some of our very favorite friends. Lola is one year older than Sophie, and they attend the same preschool and therapy center. I cannot imagine our lives without their family in it.

Similarly, we were fortunate to meet the Birchmeiers at the ASF Conference this summer. We instantly clicked, and it has been our privilege to walk alongside them and all of the newly diagnosed families in this journey. Anytime Adam posts a video or photo of Maddie, our whole family rejoices in whatever new thing that precious girl is doing.

We know that Sophie will have a lifetime of difficulties, but she handles each one as they come, and she teaches us all how to be better. It is our absolute honor to know and raise this incredible little lady, and we are blessed to be surrounded by this wonderfully supportive community.

-Written by Betsy Black