JJ Brown is a mom on a mission, SRF is grateful she has joined our tribe. JJ & Chris have been helping non-stop since they found us. Sharing her story and gift for writing is just one way. JJ’s first blog highlights Steven’s challenges and their journey around getting a diagnosis. In this article JJ expresses the emotions that she faces on the other side of a diagnosis.
COPING WITH THE DIAGNOSIS
Steven was diagnosed with a SYNGAP1 mutation just over three months ago. Dr. A called us the evening of May 12, 2020, for our scheduled telehealth appointment. After casually asking about Steven, Dr. A was ready to go home for the night. We remind him that the genetic test results should be complete by now (it had been 5 months) and we would like to know the results. After looking up the results, Dr. A informed us that Steven had a SYNGAP1 mutation and that explains his delayed development. He asked if Steven was sensitive to light and ended the call. He put his doctor’s coat up for the day and Chris and I were left to digest this minimal information.
We started with a simple google search while making dinner. “Dr.” Wikipedia’s brief explanation was enough to send our minds spinning. After putting the kids to bed for the night, Chris and I dove a little deeper into SYNGAP1 research. We spent hours talking and crying. It was our first night of our new life with Steven the Syngapian.
We have an answer and for that I am grateful. A simple explanation for all of Steven’s struggles, deficits, and delays. In our short time with the diagnosis, Steven’s day to day is not all that much different from before he was diagnosed. The focus has always been to aid in his development and make his daily life as rich as possible. His brother Tyler’s daily life became about sharing Mom and Dad with his little brother; learning how to adapt. And for Chris and I, since Steven was born we have been in different states of survival. With his diagnosis we felt that survival was all we were going to be able to do for a probably a long time.
ALL THE EMOTIONS
After the initial google search and the first few papers we read, we started feeling all the emotions. Emotions such as anger, frustration, relief, fear, grief and eventually acceptance, empowerment, and purpose.
Anger. I was angry with myself. I was mad at the universe. I did not understand why this happened to us. I was angry with the doctors. Steven has a diagnosis, but still none of his physicians understand either the basics or the complexity of syndromes caused by the lack of SynGAP. The burden was not lifted by getting a diagnosis. It is still my responsibility to be the expert on Steven and to make sure his medical needs are met. And, that sometimes can make me so mad at our medical system. For rare disease parents, a diagnosis does not make getting medical care or diagnostics any easier and that can be a difficult pill to swallow when talking with the doctors. I am still angry some days, I cannot change this. I feel overwhelmed and frustrated, but the anger overall has faded and gives way to so many other emotions.
Frustration. Taking care of a special needs child is difficult. Understatement of the century, but it is the simple truth. I hate that I get so frustrated with Steven sometimes, because his actions are not his fault. He is tired. He does not have words yet. Every small action is 100x harder for his little body than for his brother. Most of my frustration is with myself for not having the patience to listen to what he is trying to tell me, but sometimes after days on end of the daily grind, I just do not have anything more to give and I get short-tempered with my children. I am human after all, but in their eyes I am Mom and Mom is so much more than one person—Mom is the maker of food, the daily housecleaner, she puts clean sheets on the bed and clothes in the drawers, she is the healer of all injuries and insults, the ultimate entertainer and friend, mom is a teacher and the fighter of monsters and the banisher of all fears. She is the person in our house that makes the world continue to spin. I am frustrated for still being in survival mode. Honestly, I do not yet see how to get out of survival mode, and as long as the day ends and the next begins I am okay with just surviving.
Relief. On a single piece of paper I have an answer to one of my deepest fears for my child, a diagnosis—“Gene: SYNGAP1; Disease: SYNGAP1-related disorder; Mode of Inheritance: autosomal dominant; Variant: c535delG p.E179SfsX9; Zygosity: heterozygous; Inherited from: unknown; Classification: pathologic variant.” His mutation to the best of our knowledge is a de novo mutation meaning a random single missing G nucleotide in his SYNGAP gene that occurred at conception. This is not my fault. I could not have caused this. I am relieved to know why Steven has so many challenges. I am relieved to know why he is so unique. His extra special needs and Syngapian powers come from a single change in one of his SYNGAP genes. A change that cannot be explained beyond randomness.
Helplessness. Unfortunately, that randomness that makes Steven so very special also makes me feel so very helpless. No matter how much I wish I could, I cannot change the very material that makes up his being. His DNA is as unique to him as any child’s personality or dreams. When Steven struggles at night to sleep or it takes every ounce of strength and focus to grab a toy, I feel helpless. When he falls flat and lays on the floor, I feel helpless. When he is crying and I cannot stop the tears, I feel helpless. And, as he gets older I will continue to feel helpless, because I cannot change how hard life is going to be for him. All I can do is try my best to make each day have as many happy moments as I can for him and his brother.
Fear. Steven is 18 months old and since he was born I have lived in fear of what each day will look like for him. He has so many struggles and some days the sheer quantity of his medical conditions feel overwhelming. The night of his diagnosis I did a google search on his mutation and my fears escalated. I didn’t know I could be more afraid of my son’s future than the unknown.
- Pervasive developmental delays
- Gait abnormalities and orthopedic problems
- Generalized hypotonia
- Autism-spectrum disorder
- Sensory processing disorder
- Sleep problems
- Failure to thrive, these scare the hell out of me.
But…Steven has been living with most of these problems already and he is still growing, he is still smiling, he still finds joy in each day. Ultimately, the daily problem list did not grow after his diagnosis. Steven does not seem to be afraid of any of these things. He simply needs love, nourishment, encouragement and some fun to make his day as bright as it can be. As his mom, I hold these fears close to my chest and put one foot in front of the other. And, if Steven needs more help, I will find it for him. If he starts having seizures, we will tackle that when we can. Having a diagnosis now means I can do my best to prepare Steven for handling the challenges ahead of him.
Guilt. Before Steven’s diagnosis I felt guilt for not knowing how to help Steven and now with a diagnosis I still feel guilty sometimes for not knowing how to help him. Somehow knowing Steven has a genetic disorder does not take away this guilt, but I can at least put it in perspective. I feel guilty for not giving Tyler enough attention or for not knowing how to meet his needs. I feel guilty for wanting to get away from my kids sometimes and to just be alone. I feel guilty when I just walk away from the dishes or the laundry or the whining kiddos and step outside for a breath. I feel guilty for looking forward to a glass of wine or sharing a beer with my husband (well that was before baby Brown 3 was coming). This is mom guilt. And mom guilt is there no matter if my child has a genetic disorder or not. I cannot always give myself grace, but with time my guilt like my anger is fading.
Grief. Every single day, sometimes openly and sometimes silently, I grieve for my son, my family, our future. Before Steven’s diagnosis I could pretend that someday he was going to “catch up” to his brother, but now I know Steven will always be different. Life will always be harder for Steven. After talking with other parents, I think we all grieve for what we think we have lost. We all acutely feel the sadness and heartache when our child struggles. Getting a diagnosis only made the stab of sadness so much stronger, because I can never take away his pain or his difficulties. As time passes and Steven ages I grieve, because there is no therapy yet to “fix” his genetic mutation or to boost his SynGap proteins. Steven will always struggle to learn. He will be forced to work harder to every small step he takes, every small or large purposeful movement of his body will take so much more energy than his brother, and I cannot change this. These feelings of sadness are extraordinarily strong, and I know will deepen with time. Sometimes I am overwhelmed by my sadness for my son and family, but like two sides of a coin, Steven shows me joy. He finds happiness in each day. His smile glows and lights up a room. Another mother once asked me when I was pregnant with my first son if I could choose one thing for my baby what would it be? I said I want him to be happy and healthy. She said I could only choose one. If I can keep Steven smiling, I know I can keep going every day, I can keep fighting for him.
Acceptance. This stage I am only beginning to enter. My brain understands I cannot “fix” Steven, I must accept him and all his uniqueness and genetic diversity, but my heart is slower to catch up. My heart still aches for my baby, but that ache is okay. I accept I will be sad. I accept sometimes I will be frustrated or angry. I accept that I am helpless to change his genetic code. I accept that I will fear for his future and feel guilt for not being as strong as I can every second of every day. And I accept that I can focus my emotions and I am helping my son. I am his greatest advocate. I am his daily care-giver and his daily hero. I accept that I have one answer, but not all the answers, and I accept the challenge to fight for my son and my family’s quality of life. Someday we will be more than surviving, I know this in my bones. We have a diagnosis and although I do not know exactly what our future holds at least I have a vague roadmap to follow.
Empowerment. Before Steven’s diagnosis we were treading water and hoping for a ship to come rescue us. Now with a diagnosis, we are the ship. SYNGAP1 mutation means Steven has a disability that will affect him his entire life. He needs therapy and medical professionals to aid in his development and monitor his health. I have a diagnosis to focus my learning such that I can help educate his medical team and I can build a team around him to help him for a long time. Doctors, therapists, insurance companies cannot deny Steven’s special needs. And, I have a diagnosis so we can connect with other families with children affected by a SYNGAP1 genetic mutation. We can build our tribe now and as a tribe we can lean on each other, support each other, and work together to change the world for our children.
Purpose. I firmly believe Steven is my ambassador of hope and he is meant to change the world. He has a genetic disorder, but he is also my perfect squishy baby. He keeps me grounded, while also encouraging me to push the limits of science and biology. Before Steven I was a veterinarian and a mom. Before Steven’s diagnosis, I was struggling to balance Steven’s needs with Tyler’s needs. Steven’s diagnosis means Steven gives me another purpose—to tell our story, to inform parents and empower them to seek genetic testing, to educate the world on SYNGAP1-related syndrome, to push researchers and biopharma to explore the possibilities of therapies for our children and other children with rare genetic disorders.
“God does not make mistakes.” I cannot tell you where I first heard this phrase, but it resonates with me every day. Chris was raised in the Catholic church, I was not. I was not raised to go to church, and I have never read the bible, but this phrase has helped me hold myself together when I feel like I am drowning in my emotions. It holds me together on the days when I feel like I am spinning my wheels trying to coordinate Steven’s doctor appointments. It gives me patience when I cannot comfort him on the days he cries inconsolably. And it gives me grace when I feel guilty for all my feelings of ineptitude, helplessness, and smallness in the world of raising a Syngapian and growing family. These emotions do not happen independently of each other and sometimes it is just a continuum of feelings. Having a diagnosis means I can channel my feelings, but I cannot change them and that is okay. “God does not make mistakes” and Steven is still my perfect squishy baby, so every day as Grandpa Brown would say “we just keep on pedaling.”
FINDING OUR TRIBE
There are over 600 diagnosed children and adults with SynGap globally. Steven was #536 (at least that is what we estimate him to be). That means there are over a thousand parents of diagnosed Syngapians out there. Taking care of a child with special needs is exhausting and isolating and having a diagnosis allowed us to connect to families with children affected by the same clinical syndrome. We have found a tribe with the SynGap Research Fund (SRF). Within the first week of Steven’s diagnosis parents from SRF reached out to us and welcomed us. They encouraged us to take time to process the information of what his diagnosis means (and we did, kind of) and to ask questions. We asked a lot of questions and quickly realized this was our tribe. These are our people. We are bound by our children and their genetic mutation but we all also share the common goal of trying to better our children’s lives.
SRF is one support group we found after Steven was diagnosed. For newly diagnosed parents, I strongly encourage you to reach out to each group and meet as many parents as possible to build your tribe. Find the only people who truly understand what you go through each and every day.
SRF is based on three principles: collaboration, transparency and urgency. These three principles resonate deeply with Syngapian families. Collaboration means bringing together families, bringing together researchers, and bringing together biopharma companies. Transparency means there are no distortions, no hidden agenda, all of SRF’s activities and finances are open to the public. Transparency also means making the science available to parents to better share the knowledge within the community. On the website there are multiple tabs under each heading. One of the tabs that is a great resource is the knowledge center tab. There are links to the latest articles about SynGap and there are links to blogs to help explain, summarize and synthesize what is happening in academia and the private sectors. Urgency. This speaks for itself, but urgency means “Time is Brain” for our children and as time passes critical windows for learning close. As the brain goes each day with too little SynGap protein there is no getting that time back, it’s gone. SRF urgently wants to improve the lives of our children. Perks: SRF hosts webinars to bring researchers face to face with parents. SRF hosts a happy hour Zoom call every Wednesday (at 5 Pacific, here’s the link: bit.ly/SRFHH) to connect parents with each other and share our struggles and triumphs. SRF has a Facebook page to stay connected and to connect extended family with the SynGap community.
Chris and I joined as many Facebook groups for SynGap families as we could in the first few days following Steven’s diagnosis. I also joined a few local Facebook groups and local mom groups on Facebook to start building a tribe. So far, we have only participated in SRF led functions, but we still follow the other groups online.
BUILDING OUR TEAM
Prior to Steven’s diagnosis we had doctors. Each doctor assessed and made recommendations for each system being evaluated. Now we have a diagnosis and we are building a team for Steven. So far Steven has a Pediatric Neurologist, Pediatric Pulmonologist, Pediatric Gastroenterologist, Pediatric Surgeon, Developmental Pediatrician (upcoming appointment), Geneticist, General Pediatrician, Occupational therapist, Physical therapist, Speech therapist (language) and Feeding therapist (speech OT). We are seeking a second opinion from a regional medical center for neurology and pulmonology and trying to consolidate doctors to 3 institutions (right now we are at about 13 different places to get Steven’s care). These are just for Steven’s current medical problems, but we know that Steven will need these doctors and therapists to help him grow and thrive. He will need them to monitor and follow his medical problem list. And, it is our job as parents to coordinate all of it. It is our job to bring to their attention any changes in Steven’s life or development. It is our job to stay on top of the latest research and therapies so we can share this knowledge with his doctors. Building a tribe has helped Chris and I stay up to date and continue our education to further Steven’s care.
Lastly, we have contacted and updated Steven’s case through the Alta Regional Center. With Steven’s diagnosis, he was deemed by the Alta Regional Center and is eligible for the Medicaid waiver. He is also eligible for early intervention services, but in our county these services are currently on hold. We are still waiting for Steven’s Medicaid waiver to be processed, but his care will be retroactive to June 1 (the beginning of the month he was deemed). Financially, it is impossible to provide the level of care for Steven that we want to give him to help him grow and gain strength. Medicaid should alleviate some of the financial burden. The Alta Regional Center provides other services as well that we will investigate as we build a team for Steven one step at a time.
PLANNING FOR THE FUTURE
SYNGAP1 mutation is a genetic disorder that will forever be a part of our son, so we need to plan for his forever. This starts now. First, we contacted our family lawyer and amended our plans to include a Special Needs Trust just for Steven. This trust will hold any funds left for Steven and insure that they cannot count against him in the eyes of the state or federal government as it relates to services. We also had to amend our Will to update who we would want to care for our children in the event that Chris and I pass away before they are 18. We had to make sure that the person we choose is willing and able to accept the responsibility and care for three children, one of which has special needs.
This meeting with the lawyer brought me to tears. How can I plan for the rest of my child’s life when I am trying to just get through each day? How can I know he will be financially stable when we are trying to just collect and pay the medical bills we already have, and it is only June of this year? How and who can we ask to care for our children if we die too soon? This last question will probably keep me awake at night until all my children are adults, because who can possibly give them, give Steven, the care I can give him. But, these are questions that need to be put into writing, because if there were to be a tragedy, we need to make sure all of our children’s needs are met. Logistically, just getting a special needs trust is all we have done so far.
Second, the future requires money. Research requires money. Awareness requires money. Fundraising is pivotal to driving research and awareness forward and forward we must go to find therapies for our children. Luckily, we are not alone, we have a tribe. SRF is actively fundraising for specific labs to help answer key questions to the cellular regulation of SynGap proteins. SRF funds labs to grow brain organoids of SynGap children to provide another model for research in addition to the SynGap specific mice. These SynGap mice and organoids are used to better understand the complexity of the SYNGAP1-related syndrome. Research will drive knowledge and therapy. The other side of the coin is awareness. Children and adults need to get a diagnosis in order to have a targeted therapy plan. Diagnosis is key to therapy. First, a diagnosis will enable families to take full advantage of therapies and services through their state or local government. Second, a diagnosis will allow families to join this wonderful forward-thinking community to help find targeted SynGap therapy. More cases of SynGap will draw the attention of biopharma companies to expand their small molecule, gene or antisense therapies to SynGap. The overarching goal is to help our children. We will do this fundraising to support research and awareness, to connect families and educate families, to excite and raise the attention of scientists and biopharma. This is our future.
For the present, Chris and I have learned not to take anything for granted and to try to be thankful for all we have. We have two beautiful sons (and another baby on the way). We have each other. We have a tribe. We have a plan and a roadmap of where we want to go with our family and with the SynGap community. Our day-to-day has not changed very much, but our future certainly has and for that we can feel all the emotions including empowerment, purpose, and thankfulness.