When Battling Rare Disease Is Like Climbing a Mountain

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Imagine you have gone through every test known to man, plus some.
Well this has happened to me in the past 13 years. I thought I had a diagnosis, then I was told the doctors had changed their minds, so I spent 17 days in the hospital with some of the best brains in the land and at the end of that there was no definitive diagnosis, just more medication.

Then add to that the complete loss of your voice for three months – not a word, not a syllable, frustration growing ever deeper communicating through a synthesized voice on your smart phone.

Then your eyesight is affected badly. You wonder to yourself, what next? Then it hits and hits hard: depression.

We expect so much from our clinicians but sometimes they are stumped. I have decided to call my condition the “Napier syndrome” – that makes me more than one in a million.

You have a choice: you can go to bed, pull the covers over your head and never get up again, or you can decide to climb the mountain. Yes, it is very steep and the oxygen level gets lower as you climb ever higher, but on you go, climbing higher and higher. Every day you know you will never reach the summit but you still keep pressing on regardless.

This is a lonely journey but for one: the one who cares for you 24/7, the one who endures your moods and your anger and keeps coming back for more – in my case, it’s my amazing wife.

I know I will never reach the summit, but I also know I will never stop trying. Living with a disability changes everything: the extra medical costs (I find this amusing – you have the condition but you also pay for the privilege of having it), your friends stop visiting you, you may begin to become isolated, you may begin to lose hope… But then you remember you have been here before many times – too many to count – but although you’ve never reached the summit, you never gave up – you just kept climbing.

That is what it is like when you have a condition no one else has. Don’t ever dis my ability, because my abilities far exceed my disability and that plus my faith is what defines me. That’s what drives me to see others in a similar situation, give them all the help they need to lead productive lives and, when possible, join them on the climb to the top of the mountain.

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Thinkstock photo via sezer66.

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What the Rare Disease Community Means to Me

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My husband and I found out we were expecting our first child in March of 2012. We were surprised and shocked and so excited. During those nine months of waiting for our son to be born, we also squeezed in a wedding and a brief honeymoon. It was such an exciting time in our lives and a complete whirlwind. The thought that anything could be wrong with my unborn child never even crossed my mind.

We planned on breastfeeding, only having natural baby products, definitely no co-sleeping, and a minimal amount of wooden toys. Oh man, were we naive. So, so naive!

Silas was born on a sunny day in November. It was a fast and uncomplicated birth that had topped off my totally normal and healthy pregnancy. We had so many warm and cuddly snuggles with our sweet baby boy. Things were perfect! I think at this point many of you might know what’s coming next, the feeling that creeps in as you start to notice or hear things that make you feel a little unsettled. The not-super-obvious red flags that lead you down the road to endless doctors’ appointments, therapies and many tears.

Silas had trouble regulating his body temperature in the hospital and had failed his newborn hearing test three times. We stayed in the hospital for one extra day, until they felt comfortable with his body temperature. He refused to breastfeed, and I felt like a failure as a mom. I had every friend around telling me about lactation consultants and squeezing boobs like hamburgers and “You have to try these cookies, they will solve all of your problems.” Alas, he never got it down and we went to formula. We had sleepless nights, missed milestones, extra amounts of spit-up, and lots of co-sleeping (it’s amazing what you’ll do to get an hour of sleep).

It took hundreds of appointments and three years for us to get a diagnosis. We heard from every specialist that they had no idea what wrong, but they suspected something rare. Towards the end, our geneticist ordered a whole-exome sequence. She gave us a results wait time of four months and a 25 percent chance of getting a diagnosis (in other words, don’t hold your breath). If nothing came of it, she was throwing in the towel and referring us to the NIH. Four months later, we received a magical phone call — he had a diagnosis! We went in for our appointment and she explained that he has ADNP syndrome, and that there were only 13 other people in the world with this diagnosis and exactly three publications. The only thing we learned from that appointment was a name of a diagnosis and nothing new. No prognosis, no “what to expect,” nothing. We were still, essentially, alone. We then found a Facebook group for parents with children with ADNP syndrome, and my life was changed!

It turns out that Silas was actually the 33rd patient diagnosed. We scoured every post and picture. These kids looked just like Silas and had almost all of the same characteristics. My husband and I were up for hours reading; we felt so much instant camaraderie. We knew right away that we had found a new family, our tribe.

Over the last one and half years, since receiving the diagnosis, we have become actively involved in the rare disease community. We now have 105 patients worldwide in our ADNP community. We have started a foundation for research (ADNP Kids Research Foundation). Many of us have attended rare disease conferences. In September of 2016, five other ADNP mothers and I went to the Global Genes Summit in California. It’s a three-day conference for rare disease patients and patient advocates. We walked in this conference not knowing what to expect and found a home. We were surrounded with hundreds of people who knew exactly what we were going through. I was so amazed and how open people were, how willing and eager to share all they knew with us.

We knew we wanted to start a foundation for research. With such a small patient populations and minimal research out there currently, it’s hard to get funding. We reached out to established foundation members and the staff at Global Genes, the Everylife Foundation, and Rare Disease Legislative Advocates (RDLA). Everyone was so happy to share what they knew with us to make our journey easier. The common phrase we hear around the community is “Why reinvent the wheel if you don’t have to.” We are so thankful we didn’t have to reinvent anything. We have been able to lean on and get support from so many other rare disease advocates.

This community has been like nothing I’ve ever known. It has transformed the way I interact with people in my life. It has inspired me to fight and advocate for not only my child, but all rare disease patients. I have been given a voice and intend to do everything I can to shine a light on rare diseases. I feel honored every day to serve this cause alongside so many selfless and passionate people.

The rare disease community has given me light where there was darkness and grief. Hope where there was despair. Knowledge where there was confusion and loss. Courage and a voice where there was silence and fear. But most importantly, a big giant family where there was no one. I am forever grateful for this community and their love.

Visit ADNP Kids here.

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Caregiver Self-Care, Not Just One More Thing on the List

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Last month we had 28 medical appointments in our calendar. That does not include the IEP and meetings for updated medical accommodations at the school, nor the medical care for the dog who urgently needed dental surgery.

I am, after the loss of my former husband a few years ago, a single and only parent; the sole source of income for our family. A mom and a caregiver to two kids (9 and 10) who have have medically complex, rare illnesses. The situation is made a bit more challenging because there are no known cures; their illnesses are unrelated and have demanded a great deal of care the past few years.

Before my kids’ illnesses, I enjoyed training for half marathons on wooded trails, hosting dinner parties, sweating in Crossfit, meditating quietly in the early morning, hiking or doing yoga with friends and trying new paleo recipes. I was for the most part, fairly healthy.

Like many caregivers of children with complex illnesses, I found myself short on time, short on money, and slowly but surely losing opportunities for working-out, seeing friends and preparing nutritious meals for myself. My time was devoted to getting my kids to clinical trials and medical appointments. I tried my best to hold anchors of childhood normalcy by making sure they got to school and had play-dates as their health permitted, while still accommodating their nutritional needs. And by reducing how much I slept, I was able continue to work full-time.

I know self-care matters. I know it matters as much as administering medications, researching clinical trials and ensuring the magic of childhood is not lost to my children.

Research and experience shows caregivers have elevated rates of  certain illnesses, increased rates of depression and are at risk for substance abuse, insomnia and weight gain. Like many caregivers of medically complex and chronically ill children, I can anticipate being a hands-on caregiver for at least another decade. The cause of my stress can be measured in years, not weeks. And like many caregivers, after two years of what felt like non-stop care-giving activities — clinical trials, weekly medical appointments, in-patient stays, lengthy procedures, missed school and work, a future uncertain with the progression of rare pediatric diseases — I found myself needing to take inventory of how I was going to take care of myself in what had become my new normal.

Medical appointments replaced lunches spent at the gym. PubMed research replaced meals with friends. Eating an apple with almond butter replaced trying new recipes using the contents of my farm box. Updating notes in the kids’ electronic health records replaced morning meditations during quiet sunrises.

I work in healthcare. I know the importance of mitigating the stress of being a caregiver through evidence-based practices that include social connections, movement, healthy nutrition and mindfulness. For me, and many others, research shows spiritual practices and/or faith can also play a role in successfully managing stress.

We have a giant calendar that charts our family’s month. Now, along with the medical appointments, prescription pick-ups, reminders about physical therapy, work travel and client meetings, there are also notations holding time for my self-care: swimming, a hike with a friend, extra sleep, a visit to the gym, time to meditate or a new recipe to try.

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Thinkstock photo by: AntonioGuilem

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What It's Like to Hear a Geneticist Say, 'It's Never Been Seen Before'

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“It’s never been seen before,” the geneticist told my husband and I with a faint grin. I could tell that for someone in his profession, he was trying to contain his excitement.

We had been on the journey for my daughter’s diagnosis for 18 months now. She was about to turn 3, and we finally had an answer. She had a genetic mutation on the SHANK2 gene that had never been seen in anyone in the world, ever.

I immediately had mixed emotions. So it wasn’t Rett syndrome, Angelman syndrome, or something else. It was this. “Which is what now?” I thought to myself, waiting for an explanation. However, all I got was, “We don’t know” and “Time will tell.”

Just as we were about to leave, the senior doctor (one of many we had seen in the three-hour appointment) told us, “Well, you thought today would mark the end of a journey, but really it’s just begun.” The more I think about that statement the more I realize how true it is.

With every other possible diagnosis we had come across, there were others. There were support groups, message boards, books, blog posts, articles, Facebook groups, and studies. But with this, we were alone. There was no “What to Expect” book. There was no other parent to contact. There is no doctor who specializes in it. It’s just us. We are alone. Completely alone.

The genetics doctors have decided to publish an article about my daughter in medical journals, giving me some hope that we will find someone else in the future. For now, we watch and wait. We wait to see if she will thrive or develop more problems.

Right now we know she is completely nonverbal, has receptive language disturbances, low tone, loose joints, sensory processing disorder, autism spectrum disorder, and visual processing issues. I want her to stay right where she is, and for my brain, the fear of the unknown can be unbearable.

Will she develop heart problems or scoliosis? Will she have regression? What about seizures? Does she understand what I’m saying to her? Will she ever speak my name? I long to have her run up to me with a hug and exclamation of “Mama!” Time will tell if I will ever get my wish. While I wait, I try. I try everything. Maybe pictures will be her way of speaking or perhaps sign language. We jump headfirst into every angle hoping it could lead to a breakthrough.

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She continues to surprise me with her zest for life and unique understanding of the world around her. She loves with her whole heart, and that love exudes from her smile. If you meet her, you are forever changed for the better, and I’m so lucky to have been given the gift of being her mama.

While I am completely alone in the world, it doesn’t matter to me. I have her and she is all this mama needs.

Follow this journey on Difficult Mommy.

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How I've Found True Friendship Living With a Rare Disease

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When I think of friendship, I usually think of the people in my life who have seen me through thick and thin. The people who perhaps I have grown up with, gone to school or university with, traveled with, played sports with or worked with for years. I think of the people who I hope will always be there for me.

The truth is friends often come and go. Sometimes that’s because we have relocated or had a difference in opinion or have just naturally grown apart. We grow up, we change, we get married, have kids and often find new friends. The memories of special friendships stay with me though, as a photograph album in my mind to look back when I want to be reminded of happy times spent together.

Sometimes, health issues can remove us from a “normal” social life that is often necessary to hold friendships together. Sometimes health can get so complex, friends no longer know what to say or what to ask. Maybe they feel so distressed about what is happening to us it becomes easier to slowly let the friendship slip. We might think it sounds terrible but I believe it’s also understandable.

Chronic disease changes everything, for everyone. Just like other life changing moments can do.

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I’ve learned that as new life evolves for a person with chronic disease — around medical appointments and accepting new ways of living with a disability — some beautiful friends remain but more than likely, new friendships will emerge. If we let them.

As someone with a chronic disease, it could be easy to feel as if you have been treated unfairly, and that response is also completely understandable. Life is often changing at an accelerating rate. Let’s face it, life with chronic disease changes your life forever.

I believe it is important to grieve over friendships that are drifting or are lost. That grief process is necessary, but I also believe once we have done the grieving, there comes a time to reach out and connect again — within our new limitations and with new expectations of ourselves and others.

I’ve been involved with online support groups for two years as an administrator. My aim in these groups is always to help others. It’s something I love to do and I feel it gives me purpose. It helps me make sense of this new phase of my life, this whole new world where I am daily finding ways to live anew with complex diseases. The unexpected outcome from being involved with these online groups is the friendships I’ve seen blossom among two people or groups of people. Friendships that have leaped out of the Facebook forum arena into coffee shops and home visits or regular phone calls and emails. The added bonus for me has not only been connecting others, but also finding my own connections with like-minded beautiful people who I now call “true friends.”

“Friendship is born at that moment when one person says to another, “What! You too? I thought I was the only one.”  – CS Lewis.

If you’re looking for genuine support, care, understanding and friendship, you are welcome to join my closed Facebook support forum, “Medical Musings with Friends.” It’s a safe place to connect with others living with chronic and complex diseases. People who truly understand the daily challenges.  A warm welcome awaits.

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Our Family's Journey So Far With a HIVEP2 Gene Mutation

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My family is on a journey I didn’t expect to take, and a foundation of hope has been my north star. Our journey can be inspiring but also many times daunting, and if we become hopeless we will lose our way. I would like to honor my son by sharing part of his journey.

Curren has been seen by five neurologists, four geneticists, a neurogeneticist, two developmental specialists, a GI specialist, an ENT specialist, two ophthalmologists, a orthopedist, two othotists, a podiatrist, two psychologists, two pediatricians, four physical therapists, two occupational therapists, and two speech therapists; this has all been in the first three years of life. Beginning about two years ago, Curren ramped up therapy to five days a week, sometimes up to four hours in one day. He is a tough cookie, and he works hard every day. Sometimes he forgets how to do the things he learns, but Curren never gives up.

Curren was born with a mutation in his HIVEP2 gene, but he was not diagnosed until he was 2 years old, after a long diagnostic journey. When reviewing his birth records, I noticed they recorded abnormal hypotonic behavior and muscular tone upon his first evaluation, but it was actually Curren’s daycare that told me his muscle tone was not “normal” four months later. Between his low tone and difficulty with brain signaling, Curren has a hard time controlling movement, especially in his legs. And although his muscles are strong enough to do it, Curren hasn’t been able to crawl, pull up, or walk yet. He is, however, doing fantastic in his new wheelchair, and we are planning to get a mobile stander which supports Curren in a standing position but has wheels like a wheelchair so he can move around and be at the level of his peers. Many people ask if Curren will ever walk, and it’s a challenging question to answer. There is no way to know, but I have hope that he will.

We have been blessed with good health over the past year, but that wasn’t always the case. Curren was first sick when he was 4 weeks old and was on antibiotics over 20 times during the first year and a half of life. He was diagnosed with reactive airway disorder at 4 months old, when he was in the hospital for respiratory distress. Curren also experienced a seizure and metabolic crisis event when he was 2. Many of the other children with HIVEP2 disorder experience GI issues, but the only problem we have experienced is a “failure to thrive” diagnosis based on Curren’s slow growth. We are also fortunate so far to have good reports from the ophthalmologist, as eye problems are common for our community.

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Like many others with HIVEP2, Curren is on the autism spectrum. He is motivated by social experiences but experiences regressions, language disorder, sensory integration disorder, and obsessive-compulsive disorder. Curren is nonverbal, and it is so difficult for a child who has so much to say to not be able to say any of it out loud. He understands what is going on around him, and he has intent for his legs, hands, and mouth to do certain things, but the message seems to get scrambled and the action doesn’t happen the way it should. Lately, I ask Curren to touch his head (which is actually challenging for him since he can’t see it) and he starts clapping. I can tell from the look on his face that he is not thinking about clapping and is confused why his hands aren’t touching his head, but the directions from his brain don’t seem to be delivering the right message. I see this also in his speech. Once when we were in the hospital, and he was over it, he said clear as day, “all done” but hasn’t said it again in over a year. I can’t imagine the frustration to have this disconnect between your brain and your body, but my son handles it incredibly.

On this journey, we have seen such kindness and compassion. It is so heartwarming to see Curren’s fans, rooting for him to not give up. Curren has an exceptional team of professionals caring for him and looking for answers. We are eternally grateful to the doctors and therapists that are making a difference in Curren’s life. It is not always an easy journey, but the people who support Curren do make hope feel more grounded. I am also so very proud of my son for the tremendous effort he puts forth and for his beautiful spirit that has not been subdued. I have hope for the future and what it holds!

Follow this journey on Hope for HIVEP2.

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