"I needed to push for what I thought my daughter needed. I was her voice." Shares Nora's mom Lisa. Read this US family's story, here.
If you would like to support Lisa's extraordinary fundraising efforts, you can find her current campaign page here.
Nora Leigh Superina: 7 lbs 1 oz, 20 inches of perfection.
On March 16th, 2020, our sweet, beautiful, Nora Leigh was born. My pregnancy was uneventful and Nora was full term and 7 lbs 1 oz. She spent a short time in the NICU for swallowing some amniotic fluid that would just not absorb because, as the delivery doctor put it, she “flipped out on a wave” of amniotic fluid after just one quick push. Nora was perfect. She was a beautiful and happy baby who took to breastfeeding wonderfully, like her three sisters before her. Having three daughters prior to Nora’s birth, I was no stranger to motherhood, which is why when Nora seemed a little different than my other girls, I began to worry. Most babies leave the hospital lower than their birth weight, but it is expected that within those first few weeks of life, they gain that weight back and then some. Nora did not.
...when Nora seemed a little different than my other [three] girls, I began to worry.
The Infant Stage and my Denial
Nora often seemed weak and floppy to me. It was not uncommon for her to look exhausted with dark bags under her eyes, even after a decent night of sleep. She never really “rolled” over, it was more like she “plopped” when she tried to turn her body. She was very gassy and often seemed uncomfortable. She had a great appetite and nursed on demand, yet she was gaining weight slowly. Despite her slow gain, Nora always followed her own curve, so I was often told, “She is just small, don’t worry” or “She’s petite, like her sisters.” When strangers saw her they assumed she was at least 3 months younger than she actually was. “She is petite.” “She is petite.” “She is petite.” This is what I told them. This is what I told myself. At first, I believed this. I desperately wanted to believe this. How could anything be wrong with my beautiful little girl? She was perfect.
“She is petite.” “She is petite.” “She is petite.” This is what I told them. This is what I told myself.
Something Just Isn't Right- Acceptance
Nora was growing up and I did what I did with my other daughters, what our pediatrician recommended, I introduced baby food. Her stools became excessive and oh so stinky. It seemed like anytime she ate or drank anything, she would have a bowel movement. I began keeping a notebook where I logged everything she ate, drank, her naps, how often she went to the bathroom, what the stools looked like, how she slept... everything. This notebook became an obsession for me and it was at this point that I realized that I knew something was wrong. I had known for some time now... why else would I be so obsessive with keeping track of everything she consumed and everything she did? I did not do this with my other children. My mother’s intuition told me something was wrong and Nora needed my help.
I began keeping a notebook where I logged everything she ate, drank, her naps, how often she went to the bathroom, what the stools looked like, how she slept... everything. This notebook became an obsession for me and it was at this point that I realized that I knew something was wrong.
Failure to Thrive- The Official Start of Our Diagnosis Journey
At Nora’s 6 month checkup with her pediatrician, Nora was labeled “Failure to Thrive.” Even though she was never on the charts for her weight and always at a very low percentile for her height, for the first time, she had fallen off her growth curve. Regardless of what her weight was at that appointment, I had gone into that office with the intention of asking for a script to get bloodwork. Nora’s pediatrician agreed that this was a good idea and off we went for what would be the first of many blood draws. Soon after, the results came back and showed that she had elevated liver enzymes. I remember a sudden rush of fear and having to sit down with Nora fidgeting on my lap. I was told that this could be due to an infection and not to be overly concerned, but they did want to make sure there was nothing to worry about. We were sent straight to Zwanger-Pesiri for a pelvic and abdominal ultrasound, which showed that everything looked normal. This was reassuring, but the fear was still there because we still didn't have an explanation for all of her symptoms. We were given a script for a sweat test at the hospital and were referred to a Gastroenterologist. The sweat test was negative and we were able to rule out Cystic Fibrosis. The gastroenterologist did a cholestasis panel, more bloodwork, and checked her fecal fat in a stool sample, but regretfully, did not check her fecal elastase. If she did, she would have seen that Nora had exocrine pancreatic insufficiency. Looking back, I wish I had pushed more for the doctors to investigate why her stools were so irregular rather than accepting the statement that “frequent bowel movements were normal for babies.” But now I’m taking you closer to the end of the diagnosis journey, I digress.
Over the next few months Nora had more blood draws and doctor appointments than any baby should. No one had answers for us and we kept getting referrals to different specialty doctors: a hepatologist, endocrinologist, cardiologist, neurologist, pulmonologist, and a geneticist.
Over the next few months Nora had more blood draws and doctor appointments than any baby should. No one had answers for us and we kept getting referrals to different specialty doctors: a hepatologist, endocrinologist, cardiologist, neurologist, pulmonologist, and a geneticist. I had her evaluated through Early Intervention for physical therapy, which she did not qualify for, but I knew she needed due to her hypotonia and delay in gross motor skills. This is when I first realized that I couldn't be that mom who sat back and listened to what everyone said. I needed to push for what I thought my daughter needed. I was her voice. So, I had her reevaluated and ended up going through insurance to get her PT when she did not qualify for the second time. Her visits to cardiology, endocrinology, and neurology suggested no problems with these areas and Nora’s essential team of doctors became her geneticist, hepatologist, and gastroenterologist. At this point everyone seemed to believe that Nora had an unknown metabolic or mitochondrial disease that was affecting her liver. She had a microarray, a whole exome sequencing, metabolic and mitochondrial panels, lysosomal storage disease panels, and other testing specific to certain metabolic diseases, but nothing explained her “Failure to Thrive,” elevated liver enzymes, and stools. Everything came back negative, VOUS [Variant of Unknown Significance], or an unrelated carrier status. I asked if there was any more testing that can be done and learned of the Whole Genome Sequencing (WGS). We were told that there was a ten percent yield and the fact that the WES came back negative suggested that it was unlikely that it would give us any answers.
I needed to push for what I thought my daughter needed. I was her voice.
On May 5th, 2021, Nora had a liver biopsy, which showed advanced liver disease due to advanced fibrosis and fat. The doctors did not recognize “the process” that was occurring in her liver and decided that it was of metabolic origin. In the coming months she would get sick frequently. She had multiple respiratory infections, eye infections, ear infections, a urinary tract infection, and multiple episodes of cellulitis from bug bites. I feared her getting sick, because I just knew her body was not reacting to common illnesses, like colds, the way that a healthy child’s body would. We had quite a few Emergency Room visits from high fevers and she ended up with Pneumonia from her “common colds” twice. I was frantic for answers.
In the coming months she would get sick frequently. She had multiple respiratory infections, eye infections, ear infections, a urinary tract infection, and multiple episodes of cellulitis from bug bites.
I trusted Nora’s doctors and I knew that they cared, but no one was more invested in her well being than me, so I dove into my own research. During the day I was a mom and high school teacher, at night I became a doctor, a researcher. I spent hours upon hours searching for a diagnosis for my baby. Like I said, I knew the doctors were doing their part and that they wanted answers, but nobody will ever want answers as much as a mother who has to watch her baby suffer. Every night I sat at my laptop with no less than 10 tabs up on my screen. I would go back and forth between Facebook groups entitled “Parents of Failure to Thrive Children,” “Parents of Children with an Undiagnosed Disease,” etc. I researched doctors who specialized in metabolic diseases and sent them emails, even found their personal contact information on social networking sites and contacted them directly. I had no shame. I became that “annoying'' parent who called over and over to check if lab results were in or if they had any suggestions on something I could be doing differently to help my daughter. “Keep doing what you're doing,” was always the response. So I kept doing what I was doing, praying that the doctors were doing the same. I applied to the Undiagnosed Disease Network and I emailed more doctors. I did safe trial diets and asked for more testing from the doctors. Through the online groups I contacted parents of children who had symptoms similar to Nora’s then dove into diagnosis after diagnosis trying to determine if any of them matched up with Nora’s symptoms.
I spent hours upon hours searching for a diagnosis for my baby. [...] nobody will ever want answers as much as a mother who has to watch her baby suffer. Every night I sat at my laptop with no less than 10 tabs up on my screen.
June 28th, 2021. “We have a diagnosis for your daughter.”
We were on a family vacation in Florida and just finishing up breakfast when my cell phone rang. It was Nora’s geneticist. The first thing she asked was when we were planning on coming home. The fear was immediate. Why would this question be asked unless there was an urgency in getting Nora home? Her second question was if my husband, Graig, was around. Graig and I proceeded to the back bedroom of the condo where we were told, “We have a diagnosis for your daughter.” We didn’t know it then, but that one sentence would change our lives forever. With that sentence, Shwachman-Diamond Syndrome, a disease that we had never heard of before, had instantaneously become a significant part of our life. The rest of the conversation was a blur, but we were basically told of the new team of doctors this disease would require her see: a hematologist, gastroenterologist, pulmonologist, hepatologist, and other doctors as needed. Her main doctor was going to be a hematologist because Nora was just diagnosed with an ultra rare blood and bone marrow disease. We were then told that there is no treatment or cure, yet, just aggressive management. The phone call ended with her saying that there was not much more information for her to give us because she was not very familiar with SDS and she recommended that we not google too much and try to enjoy the rest of our vacation. We hung up the phone and proceeded with our morning on autopilot in a fog of fear. I slathered the girls in sunblock and helped them into their bathing suits, all the while fighting back the urge to scream or cry. I needed to know more, but feared what I would find out. My phone itched in my pocket.
“We have a diagnosis for your daughter.” We didn’t know it then, but that one sentence would change our lives forever. With that sentence, Shwachman-Diamond Syndrome, a disease that we had never heard of before, had instantaneously become a significant part of our life.
At the pool, I waited until the girls were settled, swimming in the water with their daddy. I sat in a lounge chair under an umbrella and pulled out my phone, “What is Shwachman-Diamond Syndrome?” I scrolled and clicked. The first link I clicked had the word “adulthood” in the first sentence. Adulthood. My baby girl would become a little girl, then a big girl, and one day, an adult. Relief flooded through me. We had time. Time to find treatments and a cure. Over the next few hours I made calls to Nora’s team of doctors. They sent me scripts for stool samples to check for exocrine pancreatic insufficiency, so that Nora can start on Creon, an enzyme replacement medicine that would allow her to digest food properly. I set up appointments with all of the doctors that she would need to see when we got back to New York.
The first link I clicked had the word “adulthood” in the first sentence. Adulthood. My baby girl would become a little girl, then a big girl, and one day, an adult. Relief flooded through me. We had time. Time to find treatments and a cure.
From all these phone calls with Nora’s doctors, one statement stands out in my mind, “When it comes to rare diseases, parents find the cures.” This doctor also suggested I find an online support group and align myself with like-minded parents who understand the importance of research. Parents who know that action is needed, that sitting back and waiting for things to happen is not an option.
Parents Will Find the Cure
My fundraising began that afternoon at the Florida pool, and since then, as a family, we have raised over $80,000. [Visit our visit her fundraising page here]. I will stop at nothing to find treatments and a cure for my sweet daughter and others like her. I will share her story with anyone who will listen. I will spread awareness, I will raise funds, I will find a cure...because that's what moms of children with rare diseases do.
I will stop at nothing to find treatments and a cure for my sweet daughter and others like her. I will share her story with anyone who will listen. I will spread awareness, I will raise funds, I will find a cure...because that's what moms of children with rare diseases do.
Having a diagnosis for Nora has been a blessing because we now know what we are up against. Like the saying goes, knowledge is power. Now, Nora has an amazing team of doctors who go above and beyond and listen to my concerns. If they don’t have all the answers (because who really does when it comes to rare disease?) then they find someone who does. Nora has a fever protocol and she takes medications and vitamins that her body needs to thrive. We know what to look for and we know how to deal with health problems as they come. We are connected with an amazing group of people who “get it” and are there to listen or help with any day to day questions. We will be okay. Nora will be great.
If anyone reading this can take anything out of Nora’s story, it would be that a mother’s instinct is always right. Trust yourself, you know your child. Do the research and don’t be afraid to make demands from doctors and ask for the extra tests and bloodwork. If you finally get a diagnosis and it turns out to be a rare disease, like SDS, do more research! Spread awareness, fundraise, and align yourself with like-minded people who have similar goals. You are your child’s biggest advocate and you will make a difference in your child's life! Last, but not least, SHARE your story because you never know who is staying up late researching their child’s symptoms in hopes of possibly stumbling across something that can help them get answers. You can make a difference.
Spread awareness, fundraise, and align yourself with like-minded people who have similar goals. You are your child’s biggest advocate and you will make a difference in your child's life!
Addendum- October 12, 2021
Sometimes life throws you a curveball. Sometimes life throws you two. Yesterday, October 12, 2021, I received a phone call that the genetic testing for my other daughters: Maria, Emma, and Kayla, had resulted. (It was recommended that we have them tested, regardless of them not having any obvious symptoms, because they each have a 50% chance of being a carrier, a 25% chance that they are fine and a 25% chance of being positive). Maria and Emma are carriers of the genetic mutation that causes SDS. But, Kayla....Kayla, my sweet 3-year-old, chubby faced , happy girl, was positive.
What did I miss? My mind raced and is still racing with scenarios...the time she had an ear infection that took two rounds of antibiotics to go away...when she was a newborn and her body was covered in a rash that turned out to be a yeast infection...she’s on the shorter side, but my husband and I would never be considered tall. Weight wise, she is the biggest of all my girls and she has hit all of her milestones. When Kayla gets sick, she recovers. When Kayla gets bug bites, she does not get cellulitis. What did I miss? Nothing. Kayla is not like Nora...and if you really think about it, Nora being born may have saved Kayla’s life. Again, there is power in knowledge, and now we know. Now we can monitor and keep her as healthy as possible. Kayla may not exhibit the typical SDS symptoms right now, but maybe one day she will, and knowing gives us the opportunity to get ahead of it. I thank God every day for giving me these little girls and I trust in His plan. I know with all my heart that I was meant to be their mommy and now we have two perfect girls to fight for… to find a cure for. Nora and Kayla’s Quest for a Cure. We got this.
Sometimes life throws you a curveball. Sometimes life throws you two. [...] I know with all my heart that I was meant to be their mommy and now we have two perfect girls to fight for… to find a cure for. Nora and Kayla’s Quest for a Cure. We got this.
[Editorial note: Thank you Lisa for your incredible fundraising efforts, success, resilience, and positivity. Your work has a profound impact and all the donations from your efforts go 100% to research. To donate to Lisa's fundraiser, visit her fundraising page here.]