A mother’s story for her 18 month old son
PATIENT STORIES
JULY 30, 2020
JJ Brown is a mom on a mission, SRF is glad she and her husband found us. In the short time they have been diagnosed they have raised funds for the Heller project, connected with SRF leaders and started brainstorming on how they can help. Sharing this story is one of the many ways she is doing just that. This beautifully written blow by blow will resonate with some families and will hopefully be read by biopharma & clinicians to help them understand what our families endure to help their loved ones affected by SYNGAP1.
Steven Theodore Brown, you are the second son of Jelline and Chris Brown, and you are the little brother of Tyler Ryan Brown and the big brother to Baby Brown #3. You were born on the weekend of Super Bowl LII. February 2, 2019, at 0303 you entered the world and were placed on my chest. You did not cry, you did not nestle for the breast, you just stared at me. Your look and old-soul eyes were trying to tell me of our future, but I did not yet understand what that deep soul-searching expression would come to mean. All the nurses said you had the face of an old gentleman and that you would grow into a handsome young man. Your seriousness would become your wisdom. My heart knew you were unlike any other child, but my mind only understood you were simply quite different from your brother.
Your dad and I thought we would be leaving the hospital in time to watch the football game at home and introduce you to your older brother, but you had other plans. Nursing was not easy for you. Latch, suck, swallow, breath was a rhythm you did not follow. We tried formula and still you did not get enough nourishment. Instead of going home to watch the football game in the comfort of our home, we stayed in our local hospital so you could get enough light therapy to speed the recovery of your jaundice. Your dad bought the entire nursing staff chicken wings and fries and we watched the most boring Super Bowl game in recent history. I was pumping breast milk for you every 1.5 to 2 hours and it took a team of nursing staff and I to feed you and keep you under the blue lights to help your liver metabolize the bilirubin turning your skin and eyes yellow. With time and love, we finally went home.
The next several days were challenging as our family adjusted to your arrival. Your older brother did not understand how blessed we were to have you make us a family of four. He was recovering from an upper respiratory infection and double ear infections. He just wanted to have his mommy all to himself; at 18 months old sharing was not a concept he could grasp yet. Tyler did, however, give you his respiratory virus & at a week old you got very ill. You stopped breathing in the middle of the night and spiked a very high fever. That was the first time my heart stopped for you. You opened your eyes and gave me that look. The look of “I know Mom, it’s going to be very hard, but we will be okay” and I cried. I cried because I love you with every fiber of my being and I thought I lost you. I cried, because I was beginning to understand we were at the start of what would be a struggle to give you all you need in life.
You recovered from your respiratory infection, but you continued to struggle to nurse. You choked when nursing from my breast; gasped and vomited when you tried to nurse from the bottle. I went to the lactation consultant and she confirmed you were still not transferring milk. The milk would spill out of your mouth every time you tried to swallow. Your dad and I made the decision to let Dr. A, your pediatrician, correct the anterior tongue tie that restricted the movement of your tongue while nursing. Your latch immediately improved; but, overtime we would realize your transfer and swallow was not improving despite our weekly visits to the lactation consultant over the next several months.
Every couple months you would continue to get ill with respiratory infections. You would get a high fever and a cough. You required antibiotics and weeks of breathing treatments to improve. You would cry for hours on end everyday and I did not know how to comfort you. I struggled to help you, I struggled to understand what you needed, but I always fought for you, I love you. I would not take no for an answer when pediatricians would tell me it was your personality that made you cry all the time, or it was just reflux making you vomit after every nursing session, or my milk flow was too fast and that was why the milk continued to spill out of your mouth. Despite doctors not listening to my concerns, I sought specialists to help us — but nobody was listening to the entire story, no one physician was looking at the big picture. Together, you and I figured out a way for you to nurse and get enough milk. I spent hours and hours feeding you so you could grow, gain weight and strength. But, you did not thrive. You did not get strong and move or play or use your body.
At four months old you were a rolling Rockstar. You rolled right off our master bed, hit your head and went unconscious. That was the second time my heart stopped for you. We immediately took you to the local emergency room and demanded a CT before you were released. Deep down your dad and I knew you rolling off the bed probably did not have long last effects, but we also knew you were struggling to physically develop and thrive. You were being held back and I did not know what was holding you back, but your dad and I knew we would find out and we would help you overcome it.
You never reached for and grabbed objects. You never reached for me. You would simply give me that look. That look that told me “I need you, I am trying to tell you I am different, I know this is going to be hard, but we will be okay”. Your smile and laugh continues to light up a room. Your laugh comes from deep within your being and it warms our hearts. Your smile and your look propel us to keep seeking answers. Our hope was centered around your laugh, your smile, your inner sunshine.
At six months old you would not eat solids. Your hands were still clenched in fists as if you physically could not open them. No matter how much you would have wanted to reach, you simply could not. You were still growing. You were at 99% in height and weight, still on tract with your growth chart, but you were weak. Your muscle tone was so low you could not support yourself. You still had episodes at night where you would stop breathing. Your dad and I methodically never forgot to put your breathing monitor on your foot every night. Your night time waking became increasingly more frequent as you got older as if sleeping was uncomfortable or a struggle for you. You would fluctuate between diarrhea and long periods of severe constipation. It appeared that all your muscles were affected. The pediatric gastroenterologist would not listen to my concerns. The pediatrician’s office would not listen to my concerns. At your 6 month wellness visit we were told to try harder. Try harder to make you take a bottle. Try harder to introduce the sippy cup. Try harder to make you open your hands. Try harder to stop nursing at night. Try harder…trying was all we did, you and I would try our best at everything.
By 9 months of age I knew you were different, special, it was more than just your personality or my over protectiveness as a mother. After being told it was my fault you were no longer developing like your brother did, that it was my fault you could not open your hands or swallow food or milk, that it was my fault you could not hold yourself to sit or did not have the strength to try to crawl, that it was me delaying your physical development, I knew it was ME that would be the one person to find the answer and get help for you. I asked for a repeat 9 month wellness visit after you injured yourself two times without showing any withdrawal reflex. It was as if you did not feel the mechanical or thermal pain inflicted on your skin until you were badly injured. Dr. A had not seen you in several months and I came prepared. I demonstrated to Dr. A your delays in development. You gave him the look. The look that said “please help me, I am trapped and cannot grow, I cannot spread my wings, I cannot open my hands”. We were immediately referred to a pediatric neurologist in Sacramento.
On Christmas eve, the pediatric neurologist, Dr. B, confirmed a mother’s greatest fears — you were not normal, you had a severe developmental delay, you display Autism-like behaviors (that was how Dr. B described your intense soul-piercing look), and you could possibly have a brain tumor. We asked about Cerebral Palsy, we asked about trauma caused by rolling off the bed when you were 5 months old, we asked about your repeated apnea episodes and lack of oxygen to the brain, we asked about the jaundice as an infant causing long term neurologic deficits. No answers were given except all those were unlikely. We were told to get an MRI as soon as possible. We listened to the doctor, we did our best to tell your story, and we requested genetic testing.
Two weeks later your dad and I had to hand you over to a pediatric anesthesiologist for an MRI. I have never cried so hard before in my life. My pain came from deep within that only a mother could understand. A pain and fear for my baby and any complications that could come from anesthesia. A pain and fear that would come from the diagnosis of a tumor or long-lasting brain trauma. A pain and fear of not being able to hold you again or feel the warmth and joy of your smile. Your father held me tight and, when the anesthesiologist came to give us an update, we pleaded with her to pull blood and submit it for testing. We wanted your entire genome sequenced. Every strand of your DNA decoded. From my core as a mother I knew that was where you were holding the answer to why you are different. Your dad and the doctor were able to get the blood submitted and then we waited. Preliminary results of the MRI showed your brain is anatomically normal. During recovery from anesthesia, you had a brief EEG to measure your brain waves. It was normal. Your dad and I requested an evaluation by a feeding therapist and recommendation for a pediatric gastroenterologist that would listen to our concerns. During these visits, we discovered you were physically unable to swallow normally and that was probably the reason you would so easily get sick with respiratory infections. You were likely aspirating every time you tried nursing. Nobody listened to your nurse, because you were gaining weight at each wellness check. But, your growth eventually stalled. My body was struggling to keep up with your needs and you could not eat solid foods yet. The doctors recommend a feeding tube. We were supposed to get you a feeding tube a month later, but COVID — a novel respiratory virus — paralyzed the country and your procedure was postponed.
Over the next four months I built a coat of armor and we started the fight for your life, your quality of life. COVID-19 essentially stopped all services that could help you learn how to use your body. All services that could help you strengthen your muscles. All services that could teach you how to accept and swallow food. I would not give up. My medical background and my care-giving nature would find a way to help you. You slowly opened your hands around 13–14 months old. You gradually made small strides toward a crawl around 15 months old. Everyday was a struggle to help you get nutrition and hydration, but I willed my body to provide for you. Every night was a struggle to help your body relax and sleep, but your father and I never stopped comforting you, rocking you, nursing you. And, then May 12, 2020, at 15 months old, we had an answer. Your diagnosis: SYNGAP1 mutation, a heterozygous mutation in the 6th exon of your SYNGAP1 gene. This mutation causes your brain cells to only make half the appropriate amount of SynGAP proteins essential for memory, learning, muscle function, behavior, and sleep. It explains all your clinical symptoms. All the developmental delays and difficulties could be explained and your father and I understood you would need specialized assistance. We also learned that your SYNGAP1 mutation has a high probability of causing a seizure disorder by the age of 3. And my heart stopped again.
You knew. You always knew. Now I understand when you look at me and say “this will be hard, it will always be challenging, but we will be okay”. Every small milestone you achieve is so much brighter, because every movement, every learned skill, each step in your development from an infant to toddler to child will be 100x harder for you than if you had enough SynGAP. You will develop. You will learn. You do. You tirelessly carve your own path, every day.
You are my strength. Your smile, your laugh, you fuel your father and my desire to give you the best in life. WE will not accept no when doctors, specialists, researchers, say no or have no answers.
Your dad and I are only at the beginning of trying to understand what you already know about your genetic disorder. We have found a community of families with children like you through the SynGAP Research Fund, of parents that will literally move mountains to provide a healthy and happy quality of life for their children.
I apologize for putting you through surgery for a g-tube and a prolonged hospitalization during a pandemic, but my body stopped providing for you. You are going to be a big brother. You will share me with another child and our family will continue to grow. I will keep making endless phone calls on your behalf, I will keep emailing doctors and researchers, and your dad and I will build you a team of medical professionals to help you thrive. Slowly, we will strengthen your muscles, you will develop your swallow, we will help you sleep at night, we will make steps forward after your regressions. I promise. This is my purpose.
I make you this promise Steven, you will not be held back, you will not be left behind. It is my purpose in life to help you. It is my purpose in life to let you change the world.
Sincerely,
Mom
PS — Help our family support the SRF Grant to advance the Epigenetics of SYNGAP1 here.
PPS — JJ wrote a follow up to this article which you can read here SyngapResearchFund.org/blog/emotions
