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The Importance of Organization When Your Child Has a Rare Disease

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Having a child with a rare disease is a loving, caring, busy, never-ending, supporting, advocating life. For my child, we have a primary care doctor, 12 specialists, four therapists, three nurses, two case managers, and the list continues. For most, managing this can be difficult, which is why organization is extremely important. Here are some of the ways I have learned to manage Talynn’s care.

Medications and Syringes

One of our cabinets in our kitchen stores all of Talynn’s medications and syringes. We have all of the opened medications on the bottom and the non-opened on the top so we know what is needed. The other section of the cabinet stores her syringes. We have them separated with a silverware tray in order of size so they are easy to find.

Extra Supplies

We were able to snag this amazing 10-drawer cart from Micheal’s for $25 when they were having a special. In this we store extra syringes, pulse oximetry probes, nasal cannulas, CPAP mask, g-tube extensions, g-tube, tape, deep suction tubing, and nebulizer tubing. In the short two-drawer container we have her emergency gravity bags, g-tube bags, and Ambu bags. The crate holds all of Talynn’s nursing papers and notes. Extra oxygen tanks are also stored in the closet on the left.

Paperwork

Explanations of benefits, medical bills, weight checks, appointment follow-ups, visit summaries, trust funds… where do you put all of these things? I have created a filing system. I have a file folder for 2016, and inside that folder is subfolders labeled bills and explanation of benefits (EOBs). The big binder has all of Talynn’s appointments, doctors, weight/height logs, surgeries and everything in between. I got dividers and labeled each of her doctors, therapists, and programs on each one. When Talynn was younger and undiagnosed, I took her binder to every appointment so I would not leave out any information in hopes to get her an answer. Now that she is diagnosed, I have been able to step back from doing this because she has an amazing team of doctors who communicate and listen when I explain Bohring-Opitz syndrome to them.

Appointments

I use to carry around a yearly calendar and write down all of the appointments, but since having child number two, I forget everything. I have started using Google Calendar! I love it! I upload all of our appointments and then it will notify my phone with them. My favorite part is I can share the event with my husband, mom, or anyone. This helps my husband know where I am and which appointment we are at (it gets confusing!) and allows my mom to know which day she has one of my girls.

It can be very overwhelming, and I hope some of these organization tools can help you. Thank you for reading, and be sure to follow Talynn’s Journey and Bohring-Opitz Syndrome Foundation on Facebook!

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To the Nurse Responsible for My Daughter's Rare Diagnosis

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10850183_915548661789050_1688561760785653349_n Eva was born one month premature on Dec. 12, 2010. I had good prenatal care and several ultrasounds during my pregnancy, which led me to believe that I was going to have a healthy baby girl. When Eva was born, the first thing I noticed was the large heart-shaped birth mark on her forehead. Her long fingers that were tightly clenched in a fist. She had beautiful blue eyes and a gorgeous full head of hair. Due to mild husky breathing, she was sent to the neonatal intensive care unit (NICU) for observation. That first night I spent in the hospital without my baby, I worried about other things being wrong. Something didn’t seem right to me. I remember being reassured that everything was going to be OK. I was reminded that I was tired. The next day I tried to nurse Eva in the NICU, but upon attempting, we noticed Eva had a high-arched palate and a weak suck. We then resorted to bottle feeding, but Eva would vomit every time we fed her.

On Eva’s third day of life, the doctors discovered she had an intestinal obstruction. Eva’s pancreas had grown around her duodenum, which was strangling the intestine and preventing digestion. She was transported to a larger hospital with a bigger NICU and pediatric surgical staff.  While Eva recovered, the doctors recommended further genetic testing. But all the tests came back negative. Her chromosome karyotype was even normal. Upon discharge we were told that Eva could have some medical issue, but we were reassured it was most likely not going to be significant.   

My husband and I brought Eva home on Friday, Dec. 30, 2010. The first few days at home were rough. Eva still couldn’t latch and breastfeed. It took an unusually long time to feed her. I’d work with her for hours, but she wasn’t getting the milk.  She didn’t cry to be fed. Her breathing seemed noisy.  I was greatly concerned, but I kept moving forward, knowing we’d have a baby checkup to address our concerns in three days.

I explained to the pediatrician that I felt Eva had feeding troubles and I believed she was catching a cold. I wanted to see a geneticist. The doctor told me the noisy breathing was due to her high-arched palate. He reassured me Eva was fine and told me to just focus on getting Eva to grow for the time being. He didn’t feel there was anything wrong with her. In this doctor’s eyes I was a tired mother with unbalanced hormones. I left feeling empty-handed. We took Eva home and watched her closely.   Two days later, her breathing became labored, and we ended up in our local emergency room. We nearly lost Eva. Time stopped as we watched doctors and nurses working to get her breathe. Eva had RSV Bronchiolitis and ended up in the pediatric intensive care unit (PICU) for several weeks.  

We hoped this first respiratory infection and hospitalization was just going to be a little bump in the road, but it turned out to be the first of many. During the first six months of Eva’s life, she was hospitalized six times due to respiratory infections, extremely poor feeding, severe gastric reflux and choking. The pediatrician finally assisted us referrals to see several specialists — a gastroenterologist, an ear nose throat (ENT) doctor, and yes, a geneticist.

The gastroenterologist put Eva on special formulas, but she still was not growing. Eva also had another chromosome test (micro array), which was again negative. After several conversations with one research hospital, we were told that they suspected Eva had a very rare syndrome called Opitz C syndrome. But when I read about the clinical characteristics of the syndrome, I didn’t believe the potential diagnosis fit our daughter’s symptoms.  There wasn’t a DNA test available to confirm the indicated syndrome.   

Eva was still failing to thrive. At the age of 6 months, she weighed eight pounds. I decided we needed a second opinion. Instead of battling with our pediatrician for more referrals, we had our gastroenterologist help request a referral to see specialists at Children’s Hospital Los Angeles. 

It was there, during a pre-genetics appointment, that we met Sally Ward, a pulmonologist. She evaluated Eva, put her on oxygen and admitted her to the hospital.

During our five week stay, we learned a lot about Eva’s medical issues. We learned that Eva had obstructive sleep apnea and she was aspirating while feeding. An excellent dietician immediately discovered that we’d received incorrect formula mixing instructions and Eva was not getting enough calories. 

This was a turning point for me as a parent. I realized more than ever that my instincts were real and that I needed to be more persistent and involved in Eva’s medical care. I realized if I didn’t do my part by asking questions and learning as much as I could about Eva’s health, I wouldn’t be able to help her.

I was grateful that Eva’s health was improving and that she was finally getting the medical help she needed. I was grateful that we were beginning to understand Eva’s needs, but I still longed to have a diagnosis for her. It just seemed that if we had a diagnosis, I would be able understand her illness, possibly prevent complications and perhaps meet other mothers of children with similar stories who knew what I was experiencing.

During the first hospitalization, we met many excellent nurses. They were all truly dedicated to helping Eva. They kept my spirits up the entire stay. Eva’s LVN, Michele Luce McConnell, was extremely dedicated. She was truly a wonderful support to Eva and our family. She helped me understand why certain tests were being done and explained medical terms. She also told me not to give up. Every day I would tell her that I wish we could solve Eva’s syndrome mystery. Michele always gave me hope. She even offered to help me research syndromes online. I never expected Michele to use her personal time, but she did.

One Sunday night just before the nursing shift change, Michele came running into Eva’s room. She told me to look at two Facebook pages online. She carefully warned me that she was not trying to tell me what syndrome Eva had, but she insisted I take a look. The first Facebook page she showed me was dedicated to a little girl named Lauren Marie Graham from Alaska who passed away due to feeding intolerance when she was 20 months old. The other Facebook page was for a little boy named Okke Van Gemert from the Netherlands, who was 5 years old. I spent hours, actually the entire night, looking at pictures of these children and reading their stories. There were significant similarities between these children and our little Eva. The baby pictures of the children looked like our little Eva.  The facial appearances were astonishingly similar. I instinctively knew that night that Michele had found Eva’s diagnosis.

Both Lauren Marie Graham and Okke Van Gemert had a rare syndrome called Bohring-Opitz (C-like Syndrome). There are only approximately 35 diagnosed children in the world. Since Eva was expected to be discharged within days, I decided to keep the information to myself and learn more about the syndrome so I could be prepared with many questions to ask during our genetics outpatient follow-up appointment.  

I decided to contact the mothers of the children from the Facebook pages. I shared information about Eva with them, and they added me to the Bohring-Opitz Facebook group. Within that group, I met several other mothers online from around the world who had children whose stories were nearly identical to Eva’s. There were approximately six or seven families in the Bohring-Opitz syndrome Facebook  group in 2011.

When we finally made it to our outpatient appointment with the genetics division, I remember the doctor telling me to continue our research with UCLA since we’d originally started our genetic syndrome search there. I began to ask her questions about Bohring-Opitz syndrome, and as soon as I mentioned it, the physician went to her computer and pulled up a recently published medical article, “De Novo nonsense mutations in ASXL1 cause Bohring-Opitz Syndrome.” We read the publication together, and she agreed this was a possible diagnosis. It also turned out that a DNA test had just been discovered the month prior in the Netherlands. So, there was just one more thing to do… send Eva’s DNA abroad.

After five months of HMO hurdles, I decided to pay for the test out of pocket. Some people thought I was crazy since the syndrome was so rare. I was frequently asked, “What are the chances?” I would reply that there was a 99 percent chance. After several long months of waiting, Eva’s DNA tested positive for Bohring-Opitz in February 2012. The first person I called to share our news was the one and only, Michele Luce McConnell.

Bohring-Opitz (BOS) is a debilitating syndrome that has a poor prognosis due to severe feeding issues, susceptibility to frequent, unknown respiratory illnesses and obstructive sleep apnea. BOS children are developmentally delayed and have poor muscle tone. Medical journals indicate that these children have only a 50 percent chance of survival their first year. The literature, unfortunately, didn’t paint a hopeful picture. Therefore, my next goal was to learn as much as I could about this syndrome by writing the mothers abroad who had older children. Even today, these moms offer invaluable information, and we have a strong support group for our medically fragile children.

Eva’s first two years of life were extremely difficult because we nearly lived in the hospital.  There were also moments when we felt that doctors were ready to give up on her due to the syndrome’s poor prognosis.  Some doctors said hurtful things to me and questioned my ability as a mother. I learned quickly that parents of chronically ill children have to walk a tight rope when dealing with doctors.  Managing a child’s care with numerous specialists is a balancing act. When dealing with rare syndromes, there’s not any published medical information to help doctors with treatment plans.  Engaging physicians to participate in a family-centered care approach is not always easy. However, parents of children with rare diseases often have their ears closer to the ground about the syndrome from their own personal networking. 

It’s always been in those moments of despair that I somehow find tremendous energy to persevere.  I know more than ever that God has given me a special gift and that Eva’s purpose has not yet been fulfilled. Eva is now 4 years old. She’s disabled, but she’s an extremely happy, curious and playful child. She’s full of pure love. We’re also now well connected in the world of medical genetics. We share the medical treatment plans that worked for Eva with others in hope to help other BOS children. The BOS families across the world have an amazing bond. The sharing of our children through Facebook has helped others find their diagnosis. 

Eva has made my life whole, and I love sharing about her. I’m thankful for Michele Luce McConnell, the nurse who led us to Eva’s diagnosis. I don’t know if we would have Eva today if it hadn’t been for her love and dedication.

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This Illustration Used To Make Me Break Down. Not Anymore.

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unnamed (67) The first letter I opened after returning home from three weeks in the hospital was from the Cystic Fibrosis Foundation, asking for the continued support of the organization. In the envelope was an illustrated picture of a little girl holding a bouquet of flowers. Sixty-five roses.

“Sixty-five roses” is what children call the terminal illness because “cystic fibrosis” is too difficult to say.

The little girl on the card looked like how I imagine my baby would at this age — big curls, storybook features, inquisitive eyes. It was just an illustration. Not a real child. I hadn’t cried since we were first admitted to the hospital. But something about this cheesy cartoon child gave me permission to fall apart.

At 4 months old, my daughter, Adelaide, weighed less than eight pounds, and her skin was the color of a child in a Victorian portrait. Everyone told us how beautiful she was — a perfect porcelain doll.

As it turned out, that porcelain hue was severe anemia. Her blood work was off the charts abnormal. Something was terribly wrong.

Our first pediatrician assumed I wasn’t feeding her enough. He was of the blame-the-mother philosophy. I explained she was nursing all day. The problem was not with supply. It was all going in, but nothing stayed in. It reminded me of that silly children’s song, “There’s a hole in the bucket, dear Liza, dear Liza / There’s a hole in the bucket, dear Liza, a hole.”

Nothing remained in her body long enough to actually absorb. A hole in the bucket. Dear Liza, a hole.

We left our blame-the-mom doc and took Adelaide to a pediatrician who was known to be the best diagnostician in Santa Monica, California. He took one look at Addie and cancelled all of his afternoon appointments. No blame, no brush off — a real doctor.

He sent us upstairs to a lactation consultant, who after two seconds of hearing my baby suckle said, “A blind person could see that baby is getting enough to eat.”

They took more blood, urine, stool. They poked and prodded and still weren’t sure why she was failing to thrive. We were referred to a gastroenterologist. “But before you go,” the doctor said, “Let’s rule out Cystic Fibrosis. It’s probably not that, but let’s rule out the bad stuff first.”

He made an appointment for us. This was suddenly real. There was bad stuff we were ruling out.

The second I got home I hopped on the internet and looked up the disease they thought my daughter probably didn’t have. Cystic Fibrosis. Isn’t that the foundation that sends me monthly letters with sad stories of children dying? I’d even seen a Movie of the Week in the 1980’s about a little girl whose parents had to hold her upside down and beat her vigorously on the back to dislodge the mucous and blood from her lungs. Her father was the famed sports writer, Frank Deford, and his daughter died when she was only 9. It was one of those conditions where you thank God you don’t have it or know anyone else who does.

But this was the worse-case scenario. The doctor didn’t appear concerned. We were just ruling it out. Just crossing it off our list of “awful things.”

Maybe she had an allergy or blockage — some correctable disorder where, at worst, she may have to take a pill every day or have minor surgery or a special diet. It wasn’t going to be this – – this disease that’s so horrible, the children who have it can’t even call it by its real name.

When I scrolled down to “symptoms,” the breath left my body. Salty skin, failure to thrive, anemia. They were describing my baby. My sweet, napping, salty baby, who had no idea her mother’s heart was being ripped from her body. The median age of survival was 37, but most didn’t live to adulthood.

The doctor didn’t think it was likely, but I knew this was it. This 80’s Movie of the Week terminal illness with a name so ugly they have to cover it with flowers.

A sweat test confirmed it. Adelaide had Sixty Five Roses.

unnamed (66) My daughter turned 9 a few days ago. With respiratory therapy, a bazillion meds and anal retentive parenting, she’s thriving. She’s a swimmer, a surfer and a Girl Scout. That’s not to say Cystic Fibrosis is a bed of roses. Her treatments steal hours out of her day, she has chronic stomach aches and we deal with the real fear that this is still a fatal illness. She’s been poked and prodded and has had more procedures than my 96-year-old grandmother. But she’s here. And she’s funny and so full of life that people do a double take when I tell them she has CF.

When I was 18, I began making donations to the Cystic Fibrosis Foundation, ten years before my daughter was born. And on the day she was released from the hospital, when I couldn’t believe we were coming home to this life, I received a “thank you” from the foundation I had no idea would one day become my family.

Today in an antique store I found an embroidered picture of the little girl — the one with the roses, curly hair and inquisitive eyes. But this time I didn’t break down. After nine years of living life, rather than a diagnosis, I saw a brave little girl looking deep into a bouquet, searching for beauty in a word that’s still too difficult to say.

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When My Son Says He Wishes He Has Down Syndrome Like His Brother

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There’s so much I don’t know about everything.

Each year I learn a little more as I go — about life generally, about who I am, about my children, about living with Down syndrome. I can navigate pretty well through not knowing everything, but there’s something I haven’t figured out yet. When my youngest typical child looks at his older brother with Down syndrome and says he wants to have his life, I’m stumped. How do I respond to that?

My youngest is 10 years old, and for him, the longterm is the upcoming weekend. Trying to explain some of the longterm implications for Davis, who has Down syndrome, doesn’t work.  And I walk the fine line of making Davis’s life plan sound something less than wonderful, as I hope it will be.  I know Carter wishes he carried fewer responsibilities and less work; he envies when he thinks about Davis. It still breaks my heart to hear him wish he has Down syndrome. I’ve certainly experienced the unique joys that come to us as a family with a child with special needs, but there’s never a day I don’t also see a long line of doors that are closed to Davis because of his diagnosis. When I think about Carter, those same doors seem to be wide open.

As shining as all of these wonderful moments we write about are, there’s also the extra weight that we carry on the journey. In our family, this confusion of Carter not embracing all of his possibilities contributes to that weight.

But sometimes I also wonder if Carter is on to something. Do I lack an answer for Carter because there’s some truth to what he says? That a simpler life, free of the demands and worries for the most part, is something to be envied? Maybe I can use that line of thought to inspire me to simplify in this new year. If simplicity is part of what is to be envied, how can I bring that about more in my own life across these next 12 months? So, if I do that, add this to the long list of lessons I’ve learned from my children.

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If I Could Go Back to the Day I Heard He Was Developmentally Delayed, I’d Remind Myself of This

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He smiles. Every day.

If I could go back to the day I heard, “your son is developmentally delayed; he may have autism,” I would tell myself that he smiles… every day. He’s happy. He’s so smart, and he loves. He may be delayed, but he’s progressing. I would tell myself all the positive things he’s doing and that he’s going to do. I would tell myself to try and not stress because in the end, it makes it so much worse. I’d tell myself it could be worse. You’ve got this. You’ve already done this. You can do this.

You see, my son just had his 3rd birthday. He’s seen a pediatric special needs team: occupational therapist, physical therapist, speech therapist, psychologist, ears nose and throat specialist, audiologist, pediatrician, neurologist and geneticist. He’s had an EKG, sweat tests, genetic testing and he’s on a waiting list for an MRI. He didn’t walk until he was 2, and he often struggles to keep his balance or run. He’s just learning to talk.

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But the part that matters is he smiles, laughs and loves — every day.  He looks me in the eye and says “Wu you” for “love you.” He doesn’t do things quite as fast as his peers, but with lots of help, he’s doing better. He knows he’s loved, and we’ve taught him to love back. That’s all I need. They say my son is special and nice. They have no idea just how true that is.

I know as he grows, things are going to be hard for him and for us. I cannot see what’s in store for him, but I know he’ll be taken care of. I won’t let the unknown hold us back.

Recently my son was having a bad morning, and going into daycare was looking like it was going to be awful. The tears and the clinging was starting. All of a sudden a little friend of his, who could see him crying, came over and held out his hand. That was all Ethan needed. A small gesture by a sweet 2-year-old boy. Off he went happy as can be. Made my morning.

I quit asking why I was given all this, and I’ve accepted that my son has made me worthy of looking after him. Nobody’s perfect. That’s the bottom line. Everyone has their struggles.

This whole journey with Ethan, and with my oldest son, Jack, has reminded me that this life was never ours to plan from the start. Everything is going to be OK. Because I have him, and he has me. I am his momma; my life is dedicated to making sure he thrives. My 3-year-old child is a gift; he’s beautiful, happy, full of life and fun to be around. And he smiles. Every day. That’s all I need to remind myself.

The Mighty is asking its readers this question: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to [email protected] Please  include a photo for the piece, a photo of yourself and 1-2 sentence bio.

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What Horses Taught Me About My Disability

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I grew up in a stable home with loving parents.

The one thing they couldn’t love away is my cerebral palsy, which mostly affects my fine motor skills, coordination, balance and movement. Failure has been a part of my life since I was a child. I had to go to therapy to learn how to skip, run and even put my hair in a ponytail. Life became about rising up from failure, adapting and getting back on the horse (no pun intended). I became resilient to obstacles in front of me even though I severely lacked the confidence that I exuded. I always needed help to do simple things that, in my mind, any “normal” person could do with ease. As I grew older and started to babysit, I came to the point of being fearful of being a mother. I can never hold a baby and feed them. What if my baby needs something and I can’t physically help them? What if I hurt or drop my baby? That fear turned into acceptance that I would never be a mother because I physically couldn’t. That was one obstacle I thought I couldn’t overcome. That fear has stayed with me until a few weeks ago.

I met Rebecca in early October 2014 when she started coming to our church’s 20’s group. She immediately introduced me to Stable Moments, a program that helps foster and adopted children heal and build dependable relationships through horses. I’d always loved horses and had done a good amount of riding and hippotherapy (therapy for special needs children on horses), so I wanted to know more. But, like most 23-year-olds, I had a nine-to-five job that didn’t allow much time for going to the barn for hours on end. I thought it would stay a distant image that would never mature into more.

My life turned upside down when I lost my job in October. Did they downsize? No. It was my fault I lost my job. I was now a failure. I was a young woman with cerebral palsy, fearful of her future, unable to adapt or “get back on the horse.”

I began to believe all the lies that I was a terrible person who wouldn’t find another job. At our 20’s Halloween party, Rebecca casually mentioned that if I had time I should come to the barn to ride and learn more about Stable Moments.

The first day I came, Rebecca had to do everything for me. I felt so unstable on Jesse (the horse) that I began to feel like a failure again. I felt like an utter fool when Rebecca trotted and I had to watch. I couldn’t trot, and that saddened me to the point where I cried all the way home. I was so frustrated that I was unemployed, that my cerebral palsy got in the way of everything, and that I needed help with everything.

I loved the barn, the horses and Rebecca, so I made Tuesday my day to go to the barn and have a small respite from life. At the barn I didn’t have to think about the next interview, or the company that had rejected me, or the other company that never responded back. All I had to focus on was riding, the smell of the horses and the feeling of purpose I had with Jesse. As I kept going, guess what happened? I got better. I remember the day when I felt like I was ready to trot. I was scared. What if I fell? That would be embarrassing, and it would hurt. I decided to try and I was able to trot and post. I was elated that day and texted Rebecca, “I feel so confident in myself!” This got me thinking, if I did more than I ever thought I could with riding, couldn’t I do the same with motherhood? What the riding had instilled in me was confidence and strength, both mentally and physically, in myself. I knew where I came from — being able to do nothing to being able to do everything. I also learned it’s OK to take it slow; the first day I wanted to do everything because I thought I was a failure if I didn’t. Now I know that it’s the journey that makes me who I am. If I never went through the journey I would never be as strong or as able. It takes time to become confident and trust my abilities and myself.

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I can now say happily that I’m employed but am building time to ride and to be a volunteer for Stable Moments. This is a time that I will always cherish, but I also look forward to my first day of work. My work is a blessing in many ways. Financially, it’s afforded me to support a Stable Moments horse for a year, so the children in the program can hopefully learn what I’ve learned about the journey. Stable Moments has truly changed my life in a way I could never imagine.

This post originally appeared on StableMoments.com.

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