1p36 Deletion Syndrome

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1p36 Deletion Syndrome
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    #1p36DeletionSyndrome I know my granddaughter has a genetic disorder but not sure the number for the depletion. She’s never gotten help. At 17 she has bad hygiene. Leaning disability no friends. So upset

    7 Signs You Need a Break From Caregiving

    I didn’t realize how much I needed a break until I had a nervous breakdown after my best friend died by suicide. What followed was endless PTSD symptoms such as feeling out of my body, physical pain, flashbacks, numbness and more. I learned the hard way that self-care needed to be a daily part of my life to recover. In my recovery, I have found a calling in sharing my path in hopes it can help other medical parents. Do you recognize when you need a break for a minute, an hour, a day or even a weekend? I found it very hard as a mother of a daughter with a genetic disorder to figure out when I needed a break. There were certainly times when my life felt out of control, but I didn’t have the right tools to do anything about it. 1. High Emotions Over the years, I’ve cried while on the phone with the insurance company and even the phone company. Much of my life felt out of control, so my frustration and emotions came out at the other person on the other end of the phone. I sincerely apologize to those people who didn’t deserve my tears or wrath. Of course, I cried at various doctors’ appointments over good and bad news through the years, but it was more acceptable to show emotions there. After my oldest started school, I did hire a babysitter to come over every Wednesday for two to three hours, so I could get out of the house. At first, I just sat at a coffee shop and stared at the wall. It took a few weeks to have the focus to pick up a book to read. That’s when I first realized I needed a break, but didn’t know what else to do. 2. How Can You Tell When You Need Self-Care? I have included responses from an online survey filled out by medical parents. They responded to the question, “How can you tell when you need self-care?” Darla, mom to Rollie with Down syndrome explains that she needs self-care when “Emotions are high and at the surface.” Katie, mom to Stella with Turner syndrome said, “When I grow extra impatient with my family.” Micah, mom to Annissa with Turner syndrome and cleft palate, replied, “When I feel completely overwhelmed and frustrated by the lack of answers.” 3. Yelling That always should have been a sign I was overly stressed. I have a tendency to yell when I am frustrated. Yvonne, mom to Sage with bipolar, OCD and Turner syndrome explained, “When every little thing makes me want to scream and yell, I know I need to take a step back.” 4. Mental Clarity At the beginning of my caregiving journey, I didn’t understand what the doctors were saying. I was in a post-partum depression and understandably upset. Luckily, that changed later, and I could understand what was going on. Stephanie, mom to Amy with TS, answered, “I start to mentally check out at the doctors since we see one nearly weekly.” 5. Anxiety I had my first panic attack after my daughter was diagnosed with her genetic disorder. I couldn’t breathe and I was terrified. Meditation and yoga have helped immensely. Colleen, mom to Claire who has Turner syndrome, said, “Working full-time and trying to fit in doctor appointments, meeting with teachers and other school professionals is exhausting. I never knew I had anxiety until my daughter entered school, and all my worlds started competing for my time. The increase in heart rate and trying to fight my tears is my trigger.” 6. Depression/Blah Days I always thought I had more anxiety than depression, but as I look back, I remember days where I didn’t feel like doing much of anything. I always explained that I was tired, but I was most likely depressed. Melissa, mom to Tyler with 1p36 deletion syndrome said, “I’m often in a rut, and would rather sit and do nothing, or sleep than any other activity. I call them my “blah days.” 7. Consumed by Worry This was pretty much how I lived for years — consumed by worry. It never helped my daughter and it certainly didn’t help my stress level, but it was hard to stop. When your child is sick, you will do anything to make her healthy regardless of your own well-being. Therese, mom to Brady with complex heart issues and multiple open-heart surgeries, explains, “I know I need self-care when I start becoming consumed with worry about Brady’s health as well as when I am not sleeping well, I become irritable and I am less optimistic.” Through daily breathwork, yoga and meditation, I can remain calm through most situations now. The keyword is every day. Of course, I have also done a lot of trauma work to get to a calmer place. So, before you start having breakdowns at school, the doctor or at home, start taking care of yourself — every day.

    Cristin Riebel

    Truths I've Learned From a Long-Term Hospital Stay With My Daughter

    During the first year of my daughter’s life, we spent close to two months in the hospital. At different times, we were in the NICU, the cardiac ICU, on the neurology and cardiac inpatient floors, and we did an inpatient and outpatient stent for two different surgeries. Those days were some of the most challenging, confusing, exhausting days of my life. But we made it through, and we even managed to find moments of levity between the moments of stress and terror. 1. You learn the routine. Like most hospitals, at the children’s hospital where my daughter received care, the doctors begin rounding early in the morning. They take a multidisciplinary approach to care, and depending on your child’s condition, the team that rounds may have up to six clinicians or more. For instance, in the NICU each morning there was an attending physician, a nutritionist, a cardiologist, etc. Most days we would know what time the team started rounding, but we would never know exactly when they were coming to see us. Although we were always eager to speak with the doctors, we quickly learned the later in the morning the team stopped by (and the smaller the team), the less serious the patient’s condition. For instance, on our first day on the neurology floor after my daughter’s seizures began, we had a huge team of doctors who showed up around 7:30 a.m. On the day we were discharged, we only saw one physician and he did not stop by until close to noon. 2. Lunch time is the best time. The days at the hospital can be very long, so it’s helpful to find a way to break up the hours and find something to look forward to. For my husband and I, it was lunch time. Especially while we were in the ICU, we looked forward to an excuse to escape for a little while. Soon after breakfast we’d begin talking about what we wanted for lunch. Would it be pizza, something from the grill, or (our favorite) the salad bar? Not only did we look forward to the food, but it was a chance to see other people and even sit outside if the weather allowed. And we didn’t feel guilty about leaving for a little while. After all, we had to eat to keep up our strength for our daughter’s sake.   3. Your child’s room will become your “home.” Aside from our time in the NICU, we were able to stay overnight with our daughter. The rooms at the hospital we stayed at have a chair that folds out into a bed. There’s closet space for overnight bags, and a bathroom with shower. We would stay there for days at a time without going home. So naturally, it began to feel more like a hotel room. And bringing a few familiar items from home can make the stay seem a little bit more bearable. I remember the best night was when my husband brought my daughter’s favorite bouncy seat to the hospital. I pulled her, along with all her wires and tubes, out of her hospital bed and placed her in the chair. Then I turned on some Taylor Swift jams and danced around her until she couldn’t stop giggling. Of course, our time was interrupted by a nurse coming to give her meds. But those brief moments were healing for me, and made the hospital room feel a little bit more like our living room. 4. Eventually the clinicians might seem like unwelcome guests. A friend of mine used to work as a child-life specialist at the hospital. If you’re not familiar, child-life specialists are wonderful people who help families to feel more comfortable in the foreign setting of the hospital. They’re part counselor, part navigator, part playmate. She said sometimes the parents of her patients were difficult to work with. One mother even accused my friend of flirting with her husband after only a few words were exchanged. My first response was to think how illogical that mother must have been. But after I thought about it a little more, I understood. Since the room begins to feel like your home, you start to feel like every clinician who walks through the door is intruding — especially because they come at all hours of the day and night. Imagine how a mother would feel if another woman popped by her home late in the evening and started playing with her children and engaging her husband in conversation. She might feel defensive and a little jealous. Now, I realize it’s far-fetched to think a clinician is hitting on your husband, but in the sleep-deprived, stressed out, deeply frazzled brain, I can see how this thinking could occur. 5. You will sleep an ugly sleep in front of highly-educated strangers. Sleep is an allusive activity when you’re staying at the hospital. The bed is uncomfortable, there is constant and unpredictable beeping from the monitors, bright lights from the hallway and a near constant stream of clinicians who stop by throughout the night (and that doesn’t even include the nightmare that is staying in the ICU). But no matter how miserable and interrupted the stay, eventually, you will crash — hard. You will fall asleep strewn across the chair of a bed, mouth wide open, snoring and drooling. And then you will wake up to multiple doctors in your room, who all seem cleaner, more awake and more “normal” than you ever remember being. It will be at that moment you will be expected to have a meaningful and intelligent conversation about your child’s plan of care. And you will be so incredibly exhausted that you won’t even care about your unkempt appearance or morning breath. Like yesterday and all the days before, all that really matters is that your little one is receiving the care they need. 6. When you leave, you might not know how to act. Time seems to stand still when you’re at the hospital. And if you’re lucky, eventually you’ll receive the news that it’s, “Go home day.” Upon discharge, I had to resist the urge to run to the car, lest someone catch us and drag us back to the room. Leaving the parking ramp with your child in the car feels surreal. And if you’re like me, you’re glad you’re not the one driving because, honestly, you can’t really remember how to operate a car or follow the rules of the road. The fact that you have freedom to stop at a drive-through or pick up a Redbox is sheer ecstasy. And placing your baby in their own bed that night will make you feel overjoyed and terrified at the same time. Once again, you and your partner are the sole protectors of this beautiful child, and the world is as it should be. We want to hear your story. Become a Mighty contributor here . Thinkstock image by Fargo_Art