Category Archives: Rare Diseases

Making the Tough Calls

When does the risk outweigh the benefit? How do you decide if medical treatments for your child are more harm than good? Making the tough calls has never been easy, and apparently the weight of this burden never goes away. I remember my son, 4 months old, critcially ill and crying incessantly. Crying because he…

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The Difference A Week Can Make

What a difference a week can make! Last week I was looking toward Monday with apprehension, even dread. We were all but certain that our little man was to be diagnosed with a rare bone disorder that would probably require surgery. Pessimists? Realists? I’m not sure. After 3 years of bad news, it’s sometimes hard…

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Another Day, Another Diagnosis

Well, the day is almost here… I wish I was more excited, but it’s not THAT kind of day that we’ve been waiting for. For about a month now, we’ve been waiting for the July the 19th and Monday it will finally be here. This is the day we go to meet a new specialist….

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First attempts at socialization

One of the things that we are starting to feel is necessary is for Hannah to start socializing with other children around her age.  We don’t have any friends with young infants, so the only real experience she has had are friends of her brother and sister, who are obviously older than she is. We…

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Why I am dreading the tracheostomy

A couple of days ago, we had our followup with our ENT.  Hannah has been having some breathing issues lately, and I had brought them up to her since our pediatrician and occupational therapist felt that she had airway issues. The ENT did a laryngoscopy and found that Hannah had vocal cord paralysis.  She would…

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Planting the “special needs” seeds

Because Hannah’s disease progression is slower than was originally expected (thank goodness!), we have been able to slowly plant the seeds of Hannah’s illness to Ethan (8) and Abigail (5).  We made a very strong point never to say she is “sick” but that she has a “disease.”  We don’t want them to connect being…

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Yes, I DO raise my kids differently

Out of the hundreds of wonderful and supportive comments and emails I receive, every once in a great while I apparently piss someone off with something I share.  Instead of writing back to this one person, I decided to share my response here in case anyone else felt the same way.  When I mentioned a…

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How a little bear named Hope made history

Over the years, I have met some wonderful people online who have become an some of my closest friends. Being able to meet them in person, even just once, has helped solidify friendships that have lasted almost a decade. Throughout this journey with Hannah, I have also met some wonderful people. Some who have become…

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For Tuesday…

One of the greatest, most wonderful, empowering things about blogging is learning that you’re not alone. That you don’t have to do this by yourself. That there is a whole community of people who genuinely care about what you’re going through… The lovely Debi from Who Says 8 Is Enough? is hosting a very special…

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Fine Line between Research and Parenting

Not only does my beautiful little girl have an incredibly rare and fatal disease of which only a few hundred children have, but we recently found out that her DNA mutation combination (the combination of my bad Gaucher gene and my husband’s bad Gaucher gene) is something that has never been seen before and cannot…

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