This site is a place for the people who love a child with a rare disease, disorder or illness… the child, parents, siblings, aunts, uncles, grandparents, guardians, cousins and beloved friends. I am the mother of a son with a rare pediatric disease, JORRP, and the last two years have been a journey for our family and loved ones. We have felt fear and triumph, desperation and hope. I have never felt more supported, or more isolated. I hope to use this website as a place to share information, support and stories. This website and community will grow through your contributions. So please, consider sharing information or a story or building a profile. Thank you. xo, nora
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Neely’s recovery from ADEM (Acute Disseminating Encephalomyelitis) is just part of the story I hope to share with this web-site.
Neely’s condition and recovery have inspired many families over this year to share their stories with us. We’ve heard stories of amazing recoveries, rare conditions, frustrations with doctors (primarily pediatricians), and health care bureaucracy. While there are wonderful hospitals (like Greenville Children’s Hospital) and amazing doctors (like Dr. Augusto Morales) that are truly focused on patient needs and healing; there are still far to many opportunities for parents and children to get caught in the bureaucracy of health care.
Finding a physician that you feel comfortable with, is conveniently located to you, and has the hours of operation that you need only get you to the starting line. “Well Visits” and “Check-ups” are easy. Here are a few things to consider whether you are looking for a new physician or evaluating the one you have. (You should always be evaluating the one you have.)
Know Your Doctors philosophy on referring to specialists
Ask if your doctors office conducts patient satisfaction surveys or evaluations
Ask about hot-lines for patients or parents of patients that want more information
Know Your doctors relationship with local hospitals and Emergency Rooms (Ask around..)
Call your (or any) trusted health care insurance company to see if they have recommendations or evaluations
We are fortunate to have very good health care insurance. Neely’s Dad and I are lucky to work for supportive companies that offer not only great employee benefits. (BMW,Mfg and ScanSource,Inc) but good support systems for employees to help you find the information you need to make good decisions regarding your families health. But I realize that is not the norm. And having good health insurance is just one piece of the puzzle.
The most important thing we have learned is also the most common thing we hear from those families that have shared their stories with us. And that is:
Know Your Doctor and Make sure that your Doctor knows you
Never stop asking questions
Don’t be intimidated by a white lab coat and a Medical Degree
Don’t be timid about demanding a test seeking a second opinion.
No one cares more about your health than you. And no one will advocate harder for a child than his/her parent. Help us use this website to share your success stories. How have you cut through the clutter to get the attention you needed? Share your story here…
To know Nora, Ayrie and Shiya is to absolutely love them. Spend an hour with Nora and you’ll see how much she cares for her boys, spend a day with her and you’ll see how strong she fights, spend a couple more years with her and realize what perseverance really means.
Our relationship with Nora started quite simply, “hey, we’re going to go baby-sit for my boss. She has a little boy who has some sort of disease in his throat, so he may talk quietly.” Nora started as Richard’s boss at a charter school in Chicago, and Christa came along for the ride when she found out Richard was going to be watching two boys on his own (one of which was a newborn).
After a night of fun with Ayrie (I think we sang Old McDonald about 30 times), and after a night of realizing how sweet newborns can be, Christa finally worked up the courage to ask Nora what was wrong with Ayrie. A mouthful, at the time, we learned he suffered from a rare disease, Recurrent Respiratory Papillomatosis (RRP). Tumors grew on Ayrie’s vocal chords and made it difficult for him to breathe. He would go into surgery every month or so to have them removed before they spread–it sounded simple enough, right?
I’m not sure if Nora even knows this, but there was a moment when I, Christa, realized the true weight of the situation. I was watching Ayrie, and Nora had set us up with some finger paints. Her sister Emily (a true angel on earth), came into the apartment, and in the next room I could hear Nora crying. I could hear her saying, “what am I going to do?” She came out and she took Ayrie in her arms and just held him, kissed him and hugged him. Pizza shortly arrived, and I remember sitting in her family room and thinking, what would I do if I was in her situation?
We both thought that if you had a child who was suffering from a rare disease that you just curled up, you cried, you shut yourself out from the world. A naive perspective, we know, because Nora did the exact opposite. She fought for her son. She sought out the best medical care and found it! She was determined to establish a support system for other parents and guardians who are helping to fight alongside their loved ones as they battle rare diseases.
So what has Nora taught us? She’s taught us simply to never give up! While we’re training for the Chicago Half Marathon (we’re running in honor of Ayrie), we’re thinking of her and the boys. We’re realizing how lucky we are to be able to suck in another gulp of fresh air. Sure quitting is easy, but pushing through, persevering is what changes the world. We have no doubt that is what Nora is doing. We’re honored, proud and incredibly lucky to have had our lives cross paths.
This is one of the posts from my blog, “Coming Unglued”, about life with Ehlers-Danlos Syndrome which is a rare connective tissue disorder in which the body’s ability to produce enough collagen is severely limited due to genetic mutations. In 1998, my first husband died from the Vascular form of EDS; two weeks later my son was diagnosed with the same condition. In this form, people are prone to aneurysms, arterial ruptures/dissections, organ ruptures, and other life-threatening complications. Like most rare diseases, there is no cure – and there is no treatment. And for us, there is no way of knowing or predicting what the disease will do or when it will do it. I started blogging because I’ve found that the key to surviving this journey is in connecting with as many other people going through similar situations as possible. Raising a child with a rare disease is hard enough. Doing it alone . . . well, that’s just uncalled for.
It’s strange what being the parent of a child with a rare, life-threatening or debilitating genetic disorder can do to a person. There’s even a movie about it – “Extraordinary Measures”, with Harrison Ford and that other guy from the “George of the Jungle” movie my kids still like to watch. It’s about a dad who quits his job to partner with a scientist and push the science to develop a life-saving treatment for the disease. Oh yeah – it’s based on a true story.
Its’ also the kind of story that people like me look at and think “Wow! That’s just like what we go through with EDS.” Haven’t actually seen it yet, but that is actually what I think. That is actually what I hope for someday.
Long before the movie was made, families like this have been doing extraordinary things in their quests to find treatments and cures for their children; whether to save their lives or at least improve the quality of what life they have left. And long after the movie is forgotten, the newly inducted members of this ever-growing group of parents will continue to lie awake at night wondering which medical journal, which doctor, which article has the missing key to their child’s disease. They will feel driven to do it; they will feel compelled to do it, and they will feel heart breaking guilt when they do not succeed.
One thing you find yourself doing, especially now that the internet has exploded with untold treasures of medical research just waiting to be mined, is sifting through long, wordy and usually incomprehensible research articles that may contain even the tiniest connection to your child’s disease. Every once in a while, if you’re very lucky, you may even see a story of someone with the disease on T.V., or a doctor testing a new treatment which holds promising possibilities.
That’s when your mind starts to whirl, flying through every scrap of information you’ve ever memorized, looking for the elusive missing pieces. That’s when you get a little more desperate than usual (you’re always desperate), which is what happened to me a few weeks ago.
Last December, I saw a story on 60 Minutes about breakthroughs in a field called “Regenerative Medicine” in which doctors use different methods to trick the body into growing or repairing missing or damaged tissue. My heart pounded in my throat as I watched – was I really hearing and seeing what I thought I was? Could this be true? I imagined all sorts of implications for my child and the millions like him around the world. I knew my very basic knowledge of cell formation was too limited to know if this could be for us or not. So I did what any other parent of a child with a rare genetic disease would do: I hopped on the internet.
For about three days I scoured websites, located all major research institutions in the U.S. exploring this field, AND – talk about hitting the jackpot – I found the emails of several of the doctors featured in the story!! (It’s not that hard, really). So, again, I did what any self-respecting-parent-of-a-child-with-a-rare-genetic-disease would do – I sent out about ten emails to prominent doctors at prestigious institutions – I was making cold-calls (or whatever it’s called for emails).
I came to my senses a couple of weeks later when I had received no replies and remembered that there are M-I-L-L-I-O-N-S of families going though the same thing as me, and surely no less than two-thirds had probably done equally as desperate things. More than likely, the servers at those hospitals had crashed from the influx of emails from parents like me. Oh well, at least I’d taken a shot at it, right?
But then . . . out of nowhere – I got an email response from a vascular surgeon who works with the Institute for Regenerative Medicine in Pittsburgh. HOLY COW! I skimmed it faster than my mind could read – looking for key words, like “possibility” and “hope” or “promising potential“, but found none.
The email essentially said that as of right now there are no applications for the treatment in Ehlers Danlos patients, and they simply didn’t know about the future. And then he told me how to take care of a child with vascular Ehlers-Danlos syndrome; at least he was covering his bases. So – I moved on and pretty much forgot all about the other emails.
But today, when I opened my inbox, there was an email I thought was from another EDS patient I’d been told was going to contact me. I opened it quickly, started skimming, and soon realized that – OH! MY! GOD! It was a reply to the email I’d sent to THE doctor on whom the majority of the 60 Minutes story was focused.
Heart racing, adrenaline pumping, I backed up and started re-reading; actually reading this time. O.k. - it was from his associate – he was helping respond to emails – they were very backed up after the show – just like I thought – blah, blah, blah – and then, the meat of it. Which I’ve copied for you here:
“Re your specific inquiry…
1. None of Dr. Badylak’s research has specifically addressed your area of interest
2. While ECM shows substantial promise to repair damaged tissue, I do not envision that it would be effective in reversing the root cause of your son’s affliction
3. ECM and tissue engineering in general, offer promise to treat tissue defects, but the use of such procedures would require surgical interventions.”
The rest was “thank you for your interest”….. “blah, blah, blah”…..“etcetera, etcetera”…balloon popping….bubble bursting…..eyes getting teary….heart breaking all over again.
This post is a bit dark and depressing. So feel free to stop reading now! It’s titled ‘Innocence lost… how my son’s rare disease has made me more fearful’ but ironically, I will also be writing a post titled ‘Purpose gained… how my son’s rare disease has made me more fearless’
****
Oh, my dreams. They are awful. I am reminded of PTSD or at least what I have heard about PTSD. After a while, you get to a place managing a chronic disease where life seems normal and to everyone else, you look like you are healing and moving forward. But your psyche, (or whatever you want to call it), is very scared and damaged.
I woke up about a month ago and Ayrie’s breathing was so unusually quiet that I thought he was dead. It was an automatic & subconscious thought and once I woke myself up completely I knew that he wasn’t dead, but my heart was racing and I had to walk over to him and put my hand over his chest none the less.
Last night I dreamed that he was dead, on a ventilator and I had to know decide when to ‘pull the plug’. I was devastated, heart broken, frozen… I tried to rationalize it, telling myself that people lose their loved ones all the time and have to make this hard decision and life goes on. But I was feeling absolutely crushed that I was losing my son. And what’s worse? I had this dream multiple times. I kept waking up part way and trying to clear the dream from my head but it was like the dream had a grip on me and kept pulling me back.
I another dream I had to kill my younger son. I don’t remember the specifics but I think its related to my guilt over the amount of attention that I sometimes need to give my older son with JORRP and worry over the impact that it will have on my dear, sweet, goofy 2-year-old.
In many ways I am a laid back mom. I let my kids climb too high, stay up too late and run too far ahead of me one the sidewalk. I encourage their independence and put everything at their level so that at 2 & 4 they can pick out their own clothing, get themselves dressed, prepare their own snacks, find towels to clean up their own messes, etc. But JORRP has taken a sense of security from me. I am still laid back but I am scared and in the back of my mind I can’t help but think that we haven’t experienced the worst yet.
Rare diseases need your voice, creative solutions and iWish.
iWish is designed to give rare diseases a voice and a face. Through your help, together we can help change the way the world looks at rare diseases by sensitizing people to their monumental needs.
How to participate:
Picture (optional) – With your contribution, together we can change the way the world looks at rare diseases. We are looking for:
your artistic picture that will help the world connect or identify with a rare disease or diseases
pictures that show the world what it is like to live with a rare disease
Contributions can be actual photographs or they can be artistic representations. Don’t be afraid to reach out and be creative.
NOTE: any violent, racist, pornographic or offensive pictures will be banned.
iWish (required) – Now its time to write your iWish. Here are the points that you should include:
A description about your picture (required if you submit a picture)
Your iWish for a rare disease or diseases (required)
Your experience with a rare disease or diseases (optional)
NOTE: any racist or offensive content will be banned.
Have you read this poem before? My friend posted a quote from this poem on her facebook page and it really intrigued me. I asked her about the quote and she sent me to this page. As I read the poem I felt it resonating with me. I’ve aways been a high achiever. I can remember crying about a B+ on my report card in high school and my parents thinking I was crazy! ”It’s a great grade, Nora,” they told me. but it wasn’t good enough to me. But lately I have this fire burning inside me that makes me want to do even more, to give back, to become a person that contributes in a positive way to others. And it feels different because I’m not motivated anymore by an external factor like a grade or performance review, but I’m intrinsically motivated to be the kind of person that I can look up to. That my kids can look up to. It’s like being on a constant caffeine high in that I have this energy that keeps me working in the middle of the night. Right now I am a single mom to my two boys, working full-time towards my PhD, working as a graduate assistant and starting a non-profit (www.tombolo.mn). Reading this poem helped me understand my drive with a little more clarity.
It doesn’t interest me what you do for a living. I want to know what you ache for and if you dare to dream of meeting your heart’s longing.
It doesn’t interest me how old you are. I want to know if you will risk looking like a fool for love, for your dream, for the adventure of being alive.
It doesn’t interest me what planets are squaring your moon. I want to know if you have touched the centre of your own sorrow, if you have been opened by life’s betrayals or have become shrivelled and closed from fear of further pain.
I want to know if you can sit with pain, mine or your own, without moving to hide it, or fade it, or fix it.
I want to know if you can be with joy, mine or your own; if you can dance with wildness and let the ecstasy fill you to the tips of your fingers and toes without cautioning us to be careful, be realistic, remember the limitations of being human.
It doesn’t interest me if the story you are telling me is true. I want to know if you can disappoint another to be true to yourself. If you can bear the accusation of betrayal and not betray your own soul. If you can be faithless and therefore trustworthy.
I want to know if you can see Beauty even when it is not pretty every day. And if you can source your own life from its presence.
I want to know if you can live with failure, yours and mine, and still stand at the edge of the lake and shout to the silver of the full moon, ‘Yes.’
It doesn’t interest me to know where you live or how much money you have. I want to know if you can get up after the night of grief and despair, weary and bruised to the bone and do what needs to be done to feed the children.
It doesn’t interest me who you know or how you came to be here. I want to know if you will stand in the centre of the fire with me and not shrink back.
It doesn’t interest me where or what or with whom you have studied. I want to know what sustains you from the inside when all else falls away.
I want to know if you can be alone with yourself and if you truly like the company you keep in the empty moments.
The New England Journal of Medicine posted a fascinating article about drug side effects. It revels that all of the side effects listed on drug information handouts are generated from clinician or doctor reports of patient side effects and does not take into account the actualpatient experience. It’s not surprising that this would be the case. Patient voice is often missing in the traditional Western medical experience. What makes this so fascinating is just how different clinician and patient reports are. See the chart below:
Even though this blog is about rare diseases and their impact on children and loved ones, I think its interesting to explore other topics related to biology, physiology, sociology, philosophy, etc. Essentially I find a lot of seemingly unrelated things to be connected and like to spend time thinking and talking about overlap and the implications. Below is an article about brain structure that I find really interesting. I’ve been thinking about whether these same rules can also be applied to the way we organize ourselves socially.
KurzweilAI.net, Apr. 23, 2010
Scientists have discovered “striking similarities” between human brains, the nervous system of the nematode worm Caenorhabditis elegans and computer chips.
They found that all three shared two basic properties, probably because they represent the most efficient way of wiring a complex network in a confined physical space:
A Russian doll-like architecture, with the same patterns repeating over and over again at different scales.
In his 2010 Skoll World Forum speech, Jeff Skoll said: “Changing the world is a team sport, everyone has a role to play.”
Peter Deitz, a social media expert from Oxford proposed that delegates and speakers at the 2010 Skoll World Forum were describing, “a new drink that’s two parts Internet, five parts Interaction, and ten parts Interdependence.” Deitz wonders wonders whether we have evolved beyond social entrepreneurship and if the ascendance of Internet, Interaction and Interdependence should force us to reconsider our work as Social Interpreneurship.
Internet culture is reshaping our field through open platforms and peer-to-peer communications.
Interaction among delegates in small groups, tapping the immense renewable energy of activated smart people.
Interdependence in that large scale impact requires a new appreciation and harnessing of the Interdependence of people, planet, and purpose.”
You can join Peter Deitz in an on-line conversation on Interpreneurship.
Every year on April 16, otolaryngologist-head and neck surgeons and other voice health professionals worldwide join together to recognize World Voice Day. World Voice Day encourages men and women, young and old, to assess their vocal health and take action to improve or maintain good voice habits. The American Academy of Otolaryngology-Head and Neck Surgery has sponsored the U.S. observance of World Voice Day since its inception in 2002.
Nothing on this site constitutes medical or legal advice. I am a mother and advocate who is engaged and enjoys sharing my family's experiences JORRP and news about rare diseases and health care. Please consult your own health care providers for advice on your unique situation.
