Sanfilippo Syndrome

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    Waiting to Lose a Child to Sanfilippo Syndrome

    I knew this was coming. At least, I suspected it would come. The whir of the oxygen machine, the light from the monitors illuminating a little body in a big bed. Bags of saline and medicine and food hanging from the IV pole — like a medical jellyfish. Sea turtle decals on the doors and large pictures of the ocean on the bathroom wall. In our little aquarium with glass doors and windows for observation by the hospital staff, we are swimming in the unknown. “How is it going to happen? What do kids with Sanfilippo syndrome die of?” I asked the genetic counselor this question within a week of getting my daughter’s diagnosis. Maybe ignorance is bliss, but I needed to stare the shark right in the face — instead of just feeling it circling closer and closer. “Respiratory failure is the typical cause.” Now that we’re in the hospital with a respiratory illness, a blue tube running from the whirring machine to my daughter’s mask, I wonder. I wonder if this is it. In the thousands of times that I’ve thought of her death — every day for the last ten-and-a-half years since that first phone call — I have asked myself an impossible question that has no right answer. How would I like that moment to go? I have thought it maybe would be easier if my daughter would go in her sleep, but then I fear that she would be alone and scared. I didn’t know if I could handle being with her, watching her breaths and wondering which would be the last. Now, though, I desperately hope I’m present. My daughter’s like a scuba diver, but the ocean isn’t outside of her. The waves crash on the shores of her lungs, and I’m reminded that we’re made of water. Still, when the floods come and the dams break, water flows where it’s not supposed to, and there’s wreckage. Her oxygen supply sits on wheels — there are no goggles or flippers as part of her ensemble. I navigate my own flood of emotions: resignation, fear, longing, sadness, anticipation, and exhaustion. I’m treading water. I’m not a good swimmer, but I have learned how to let the flow of emotions come to me. They sometimes come in waves, threatening to capsize me, but other times, they gently rock me, soothing and consoling me. I’ve heard it said that salt water cures all things: tears, sweat, and the sea. I know that to be true because I have let salty rivers run down my face as I gasp for breath between sobs. I have worked my body, pounding out frustration, confusion, and joy as sweat drips down my nose and makes my glasses slide. I have felt the delicious dichotomy of shrinking irrelevance and profound significance as I’ve stood with my feet in the sand and watched the vast ocean stretching out before me. There’s healing in the water. The flow and rhythm. The waves and ripples. The pulse in the fish tank of the womb. My daughter navigated the baptism of water and blood into a new life after gently swimming and swirling and stretching for nine months. I hope I get to care for her body as her soul makes the transition to the next destination. I hope I get to tell her I love her. I hope I get to witness the crossing. I hope I get to mother her and labor with her — in pain and joy and wonder. But not today. Today, we adjust the flow of air, silence alarms when the IV line is pinched, adjust her, check her skin, change her, and rub her legs. Today, her wild hair gets caught on the stickers attached to her chest and the straps keeping the mask tight on her face. Today, I breathe in the scent of my daughter’s hair, touch her skin, and feel a wave of gratitude for the gift of motherhood.

    Jen Sarkar

    When Do You Know It's Time to Pull Your Child From School?

    I knew eventually I would find myself asking fellow parents who have been in our shoes this very question. However, I never thought it would be so soon. My son, Carter, is currently 9 years old and he’s pretty medically complex. Over the past year and a half since COVID started, Carter has been in home hospital. This is a program districts in California offer for children who may be immune-suppressed or their doctor believes they are too high-risk to be attending in-person school. Legally, as required by the state, we are to get a teacher to come to our home five hours a week and the allotted therapy time in his IEP. When we first came to the district, Carter was 3 years old and accepted into their special day class under other health impairment (OHI) due to chronic pancreatitis. At that time, we were focused on getting our boy back to an average level of speech and skills so that he might be able to join a typical class. We had no idea a new diagnosis was to come and days before his fourth birthday, we were shocked by receiving the diagnosis of Sanfilippo syndrome. This new diagnosis gave us answers to exactly why he had a speech delay, developmental delay, along with so many other things. We quickly realized the goals we had set out for him were unrealistic and geared up to make achievable goals. Home hospital is excellent theoretically. We heard of it when the district first suggested the possibility when Carter had a new central line placed around four and a half. As you can imagine, the Sanfilippo diagnosis completely turned our world upside down, and it opened our eyes to the fact that something we won’t have with our son is a lot of time. We were tempted to put him on home hospital then; however, socializing with his peers was more important. We had to take a step back and realize although we would love nothing but more time with him at home, it was best to send him to school. Fast forward to today – we’ve officially been on home hospital since August 2020. Unfortunately, the district could not bring someone into our home for in-person services until this summer; four months after they brought all students back on campus, to be exact. Over the last year and a half, Carter had about 150 words to now maybe having 20. He has lost many skills and abilities, and we’ll never know if it was the progression of the Sanfilippo or if it’s the lack of support and services that many, if not most, children with disabilities are seeing due to COVID. If I had to guess, though, I would say it was the second. In last year’s IEP, I had a complete breakdown. I remember begging the district for help, assistance, ideas, anything; I just needed help! At that time, they had already brought his special day class back on campus for in-person learning. I was met with — nothing we can do at this time but only offer virtual therapy. I remember sobbing as I abruptly left the meeting shouting, “You say no child left behind, what about my son? That’s exactly what you’re doing. You’re leaving him behind!” Of course, as any parent would, I fought. I fought for my son and his rights. I fought for them to do the right thing, not just to let him slip under the radar. This was not fair by any means, and this was not the first time I would go head to head with the district over it. Speaking with other parents I know we’re going though the same thing the one thing we all collectively saw was a lack of support and services for our children. The people in charge say, “don’t worry we’ll make it up later in the school year.”  But what about those children who will not be able to make it up?  What about those children who have already lost and will not be able to regain those skills? Fast forward to today; we’re still waiting on getting a teacher for him to come into our home for the five hours a week. We’ve finally scheduled speech and occupational therapy weekly, only a month after school has started. Our goals have drastically changed from socializing with peers and gaining skills to now focusing on maintaining his current skills and abilities. However, if I am honest, he’s not getting much, if anything, from our therapy sessions from the district. In a typical session, I am blocking his behaviors for the entire session, so the therapists do not get hurt and end with them just giving me ideas on things to work on throughout the week, which I am grateful for, but it’s not the same. And if I am candid, I think I am really just keeping therapy going, so he is not just seeing and socializing with our family all the time. Knowing that we don’t have a lot of time with Carter, I want to pull him from school to make as many memories with him as possible. I know I can find other ways to incorporate therapies and keep him stimulated and moving, but I also know that’s also not fair to him. I am not a a certified therapists, just a mom. I am just tired and at a loss. I fought for something he deserves, something he needs, and now, I am not sure if he’d even benefit from it at all because there has been such a significant regression in various areas. And with that, I am left constantly asking myself, when do you know it’s time to pull your child from school?  

    Jen Sarkar

    When a Kid's Birthdays Are Extra Special

    If you have children, you know every month they ask, “is it almost my birthday?” Of course, some parents dread this question weekly, but for me, I would give anything to have my son ask me this very question. Thirteen days before our son Carter’s fourth birthday, he was diagnosed with a devastating disease called Sanfilippo syndrome. The best way to describe Sanfilippo is that it’s a childhood version of Alzheimer’s that will take his ability to remember people, places, and things. In addition, he will lose all of his speech, the ability to walk, eat, and unfortunately, will pass away more than likely in his mid to late teens as there’s currently no cure or treatment option for these children. I know many families whose children have a similar diagnosis of other rare diseases dread their children’s birthday. To many, it can be a day they grieve as it’s a reminder that another year has passed, and they relive the many things that their child’s diagnosis has taken from them. It can also be a reminder that while other people’s children and families keep growing, we are in a sense on an entirely different planet where the signs are constant of how much our child’s disease has stolen and will continue to take from them. I’ll be damned if I let Sanfilippo take any more joy or happiness from our family. For me, I dread the day that we’ll have the conversations of, “how many children do you have and how old are they?” And my response will be, “Two! Our daughter who is such and such age and our son Carter who is forever this age.” I want to say that when I realized this, we made birthdays extra special, but honestly, birthdays have always been a big celebration in our family. Birthdays are one actual day that should be about the birthday person what they want to do, what kind of decorations, cake, treats, games/activities they want to do — a day solely about them and celebrating all the things they have accomplished that year. I love putting together our kid’s cake yearly, picking a theme, and creating a celebration for them where we can all enjoy making memories. However, I know that one day there will come a day that Carter will not be here. So, instead of looking back with regrets of grieving on his birthday yearly, I want to remember all the different themes, characters, cakes, games, toys he got to play with, and little victories he had every year. Having those memories will uplift us and bring us joy during a bittersweet time. Once you get a terminal diagnosis, you start seeing things in a different light and begin to appreciate all the little things you may have once overlooked. For example, your child asking you weekly if it’s their birthday. Although it may be challenging and frustrating to hear and answer weekly, I can tell you that you’re going to miss that one day. So soak it in now and be thankful your kiddo is excited to celebrate their special day with you.

    Jen Sarkar

    How Do You Cope With Knowing Your Child Has a Terminal Disease?

    I get asked daily, “how do you cope knowing Carter is terminal?” It’s a fair question, and I think those who ask genuinely come from a good place. They want to understand what is an unfathomable situation for most people. When you have a child, you dream of who they will look like, what their hobbies will include, who their friends will be, and what they will do in life. You picture pride-filled and joyful moments such as riding their first bike, going on the first date, graduating high school, all ordinary hopes and dreams. The last thing you probably think about is if they’re going to be healthy. The truth of the matter is, I have no idea what I’m doing. Navigating a terminal disease does not come with a manual. It’s a step-by-step, day-by-day thing, and what works for one person may not work for another. What I can tell you is that it became abundantly clear after Carter’s Sanfilippo diagnosis that time is not on our side. I tell everyone to tell those you love them daily. If you want to visit a friend, relative, or loved one do it now! Please don’t put it off because you never know if you will get the opportunity to do it again. In the last four years, I have found that I cannot focus on the negatives. When I do, I go to a dark place, and I miss out on some fantastic days. I need to find the positive every day because there is something to be thankful for every day. Doing this helps keep me present and live in the moment. Carter’s motto is, “live today, hope for tomorrow.” Our family tries to do this every day. Every day is good! Right now, Carter is still here, and he is happy. That’s all we can ask for but here’s to hoping that tomorrow will be an even better day and show us something new to be grateful for.

    Jen Sarkar

    Coping With the Challenges of Your Child's Sanfilippo Syndrome

    This year went by in the blink of an eye, and there have been so many changes this year — honestly, too many to count. Most of them didn’t come until September, and they have been life-changing. If you are new to our story, hello and welcome. Our son Carter, aka “C-Money,” is currently 9 years old and is medically complex. When he was 18 months old, he was diagnosed with chronic pancreatitis due to a rare CRTC gene mutation. When he was just shy of 4 years old, he was diagnosed with Sanfilippo syndrome , a terminal illness in children that’s similar to a childhood version of Alzheimer’s Disease . There is currently no cure or treatment, but as a community, we have hope. Then in September, C’s portal vein thrombosis reared its head and has been causing GI bleeds, but we are not sure why exactly these bleeds are occurring. There have been new fears I never knew we’d have, and since learning of them, they replay constantly in my mind. There’s no escaping the conditions, either. Almost daily, I speak to one of C’s doctors. I am reading articles they have sent me to review and discuss for our next appointment. I am updating them on how he is and what he has been doing. Talking with doctors has become so second nature, I disassociate about two to five minutes into the conversation. I go through the script in my head: “These are his current medications, and he is no longer taking x, y, and z. His digestion is (‘OK,’ ‘great,’ ‘eh’ — this varies by the day). He is doing OK for now” — you get the picture. I sometimes feel like a new mom repeatedly worrying about every little detail in the hope that if any of it seems “odd,” we may catch it sooner, but I know there is no way that’s possible. You can only detect a bleed once it’s started, and even then, since there is no clear way to fix it right now, all we can do is give blood and hope it stops on its own. And the falling. C’s become a bit less steady on his feet, almost as if his ankles give out and cannot bear weight. Typically, falls like that would worry me a little, but it wasn’t anything like it is now. Now, you can hear me let out a loud gasp pretty much any time he takes a fall. I try to remain calm and assess the situation. I have flawlessly achieved that goal on the exterior, but inside, full panic ensues. Within seconds, my mind has already developed three different scenarios of what is to come, what will happen, and how we need to cover it. Welcome to the life of parenting a medically complex child . You have good days and bad days, and you genuinely cherish those good days, but sometimes the negativity of all the harder news consumes you, and it’s hard not to fall into a pit of despair. My therapist says it’s a bag of things that make this all happen. The anticipatory grief mixing with my post-traumatic stress disorder (PTSD) and anxiety points to depression on the horizon. Little does my therapist know, I’m already there. And do you know what I hate most about that? The guilt. I feel guilty All. The. Time. Guilty that I feel sad and in pain when I am not the one who is terminally ill. Guilty that I need to take mental health breaks to get through the day. I am filled with guilt that I cannot change any of the struggles and guilty that I am not at my best — because my kids and my husband deserve that. The best advice I’ve gotten is from another mom of a child with Sanfilippo syndrome. Unfortunately, her son passed away in 2018 at 20 years old. She has helped countless families navigate Sanfilippo syndrome, and I have always admired her dearly. I reached out, asking how to deal with the ever-impending guilt. Her advice was, “You actually need to learn to embrace the grief . Learn to walk with it, so it doesn’t overtake you. We learned to live in the moment, like literally every day was our last.” We have been mentally preparing ourselves for this next chapter for the last five years. Thinking we somewhat knew what to expect and believed we were, as they say, “living as if you were dying.” But surprise, surprise — as adults, we’re all still learning. When you think you have a hold on life, it may throw you for dips, loops, and turns. Navigating a child’s terminal disease is no different. These last few months have proven to be more difficult than I could ever imagine, and in speaking to others who have walked this path, I have learned that it does not get any easier. Thank you for allowing me to share my thoughts and emotions with you. Although these are not the happy-go-lucky emotions you may be accustomed to seeing from us, I hope that being transparent with you will help you understand what we share in the future and relate a bit more to others who may be going through similar experiences.

    Jen Sarkar

    3 Things Not to Say to the Parent of a Child With a Disability

    I never thought I would be in this place. I never thought I would be this person. I never thought it would happen to me. These thoughts are common among parents whose child has just received a diagnosis. When you find out your child has Down syndrome, autism, or a rare disease like my son Carter, many questions start coming to mind. You take it in, you process it, which can take days, months, even sometimes years.  Then you begin living your life in this “new normal,” learning and adapting to various changes for the rest of your life. You become an expert in their health condition. You learn to appreciate and celebrate the little victories your child has and does. You begin to see everything in a different light and focus on the things that truly matter because you have no other option. But there are a few things I think parents of children with disabilities universally agree are not helpful to hear. Please stop telling us: “God only gives you what you can handle.” “I don’t know how you do it.” “I could never do what you do.” While we know you are trying to show support, it can simply backfire and piss us off.  You don’t know how we do it — we don’t have a choice.  You could never do what we do — trust me, you could and would if it was your child. Here are other things you could say instead: You are a fantastic parent! I admire your strength and unconditional love for your child. Hey, I know I do not get your daily struggles, but I want you to know you’re amazing, and I see you. Instead of making it about you, make it about them. Uplift them, tell them how terrific they are, how amazing their kiddos are, and that although you may not fully understand the day in and outs, you are inspired by them and their child’s story.

    Jen Sarkar

    My Biggest Fear as the Parent of a Child With Sanfilippo Syndrome

    I have quite a few fears. I rarely share them as I am a very guarded person; having a child with a terminal disease will do that to you. However, as I am currently working on the never-ending project of growing and developing myself, I feel comfortable sharing my biggest fear with you. My biggest fear is not living in the moment.  We all do it; you rush to get your camera or phone to capture these little moments that will soon become memories.  I worry that when I look back at those pictures or videos, I will have regrets of not putting down the camera and become upset that I didn’t just soak in the moment. Then, another part of me says I am irrational and tell myself to keep capturing everything because you never know when it will be gone. For instance, when Carter used to burp, he would say, “excuse me, it my tum-tum.” Our sweet boy hasn’t said that phrase in over three-and-a-half years, and I am so thankful I have numerous videos of him saying it. I know there is no right or wrong answer to this. It’s just mom guilt, I suppose. If I continue to live by Carter’s motto, live today, hope for tomorrow, I think that could help. One day, if I had my phone all day well, then the next day maybe I step back a bit to enjoy those moments. With everything in life, there needs to be a balance, and perhaps that’s the answer.

    Jen Sarkar

    How People Respond When Your Child Is Terminally Ill

    When people find out I am a parent of a terminally ill child, I typically get two different responses. The most common response I get is the one I dislike the most. It’s the “I’m sorry.” Simply put, it’s just sympathy mixed with the pity card. These people typically do not ask any other questions and want to end the conversation as quickly as possible. It is almost as if they shut down after they hear the word “terminal.” I’m not too fond of this for a few different reasons, but mainly, the last thing I want is your pity. Honestly, since his diagnosis four years ago, my son has taught our family more than we will ever learn in a lifetime. What I want is for you to show an interest in my child. The second type of person I come by is rare, but I personally love them. They are the ones who ask questions. What disease does he have? How did you find out? Is it genetic? How is he doing now? I love these type of people because they genuinely want to know more. They allow me to share his story, advocate for him, and spread awareness about Sanfilippo syndrome all at the same time. It means a lot. I know some people may think that it may be “annoying” to me or others in the same or similar situation, or that it may be too personal to ask these questions — but let me tell you, it’s not. Do you get annoyed when someone asks you questions about your neurotypical child? All we want is for others to treat our children as people too. We love it when you want to know more about them, such as their likes, dislikes, and how their day is going. So the next time you cross paths with a parent of a child with a disability, or a parent of a terminally ill child, please ask about their child. If their child is present, please acknowledge them, even if it’s just a smile with eye contact. Trust me, something that small could change our entire day.

    Jen Sarkar

    Why 'Super Siblings' of Children With Disabilities Deserve Recognition

    When you and your partner start deciding to have children, your mind may start to dream up all of the different scenarios and directions your life may take you. Will you have all boys? Will you have all girls? Maybe you’ll have one of each. Or perhaps you guys are the one and done type of family. The one thing you probably never dream up is what life would be like with a child with a disability. I can tell you this because I’m a mother of two (blessed to have one girl and one boy), and probably spent days daydreaming what our life would be like. Four years ago our son, Carter, was diagnosed with a rare and fatal disease called Sanfilippo syndrome. Sanfilippo is a rapidly degenerative disease with no cure or treatment option at this time. On top of that, he also has chronic pancreatitis and in his short eight years here, he’s spent over 350 days in the hospital. A bit bleak, right? We try not to focus on the negatives because it’s a deep hole that is hard to get out of, but instead, we focus on all of the positives and live by Carter’s motto — live today, hope for tomorrow. However, I am not writing about Carter today. I am writing about our amazing daughter, Sophia. Sophia just turned 10 and in her short decade here, she has dealt with more than most adults do in their lifetime. When she was younger, she was my partner in crime to all of our various doctor appointments. All the nurses would “sneak” her extra stickers at the end of our appointments for being such a good helper. At Carter’s speech, physical therapy, and occupation therapy appointments, she would do her homework and get caught up on reading. All of the other children who came in were just drawn to her. They would see her in our little nook and walk by; Sophia would stop whatever she was doing to smile at them, say hi, and if they wanted a buddy to play with until their therapy started she was more than happy to oblige. Sophia has gone days with only having one parent at home because one of us had to stay in the hospital; she has even slept in the hospital with us a handful of times. When it was time to start in-home A.B.A. therapy, our supervisor asked if we had any questions, and I clearly remember this conversation. Sophia asked in the sweetest voice, “I do.” She went on to ask, “The stuff that you are teaching mommy and daddy, is it something I should help with too?” She was eight years old at the time, and to this day, I still get choked up looking back on it. Honestly, this girl has a heart of gold and is wise beyond her years. I have always had a special place in my heart for children who have siblings with a disability, but it really came to light this past winter at the annual M.P.S. conference. I have seen many in our community refer to them as “super siblings,” which is exactly what they are! Seeing so many of them together at one time made my heart explode. They were playing with other siblings that were not theirs, engaging with everyone, and it was just a vision that genuinely fed your soul. If someone had a question on any specifics for their sibling, they had no problem discussing it, and were basically like a third parent. When one of my favorite super siblings {besides Sophie, of course} Grey gave her presentation on her the sibling support website/network she created call the B.L.A.I.R. Connection https://www.theblairconnection.org/, I realized at that time just what a lack of support these children have. These super siblings, brothers and sisters have access to so many various support systems such as special needs education, therapy, speech, behavioral health, etc. But what do the super siblings have? From what I found out, many super siblings like their parents find comfort in one another because they know these other children “just get it.” They can speak openly with no judgment about feeling neglected. They can discuss or write about how their wants and needs come second and how they get frustrated with so many people coming in and out to help their siblings; because, at times, it can feel like a revolving door. Grey’s website dives into the lack of support for these super siblings, and I am so thankful for it. It connects siblings and creates a safe environment for them to have these conversations or discuss how and find support on how they may be able to start these difficult conversations. I can only imagine how much they want to tell us but hold back in fear that it may upset us. Mental health is not just something for adults. Our youth deserve to have the light shine on them as well, especially when dealing with extraordinary stresses that come with a special needs sibling. With COVID-19 going on and schools closed for the year, these super siblings may have lost their one outlet of not being able to get a break from their sibling. As a parent of a child with a disability and a typical child, I can tell you it’s challenging to balance. I can honestly say our family could not do what we do without Sophia. She is the M.V.P. of our family, and we make sure to let her know that daily. She is happy to comfort Carter when he is upset. She continually helps us grab diapers or wipes when we have a messy explosion and is the first to pick out a movie she knows her brother will love for family movie night! However, she and many others deserve an outlet where they can speak their truths without judgment or fear that they will upset their parents. I hope other parents who may be in my shoes look for various things to help support their super siblings during these difficult times. I highly suggest you check out the B.L.A.I.R Connection so your child may be able to connect with other siblings who “just get it.”

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