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            Emergencies in my baby girl’s life were something of a biweekly event. Starting at about two months of age, I rushed my daughter to the Children’s ER often for gastric issues. These episodes consisted of her not being able to keep formula/food down, refusing to eat and screaming in pain that could not be comforted. I was told to switch formula time and time again until she was nearly 7 months old, at which time it was suggested she may be lactose-intolerant and we began a soy-based formula. But even then, she continued to have issues with her digestive system. and didn’t hold solid foods well.

            My daughter is now seven and still has gastric/digestive problems. We’ve since learned she is NOT lactose-intolerant. In fact, last year, she was diagnosed with a rare connective tissue disorder called Ehlers-Danlos Syndrome and she has type 3, otherwise known as hypermobile Ehlers-Danlos Syndrome (hEDS). I’ve learned to stop rushing to the doctor or the hospital due to her headaches, sore throats and stomach pains. In some ways, her being diagnosed with a rare disease has relaxed me when it comes to her medical treatment. The more I learn about hEDS and figure out her unique set of symptoms and their severity, the less I tend to freak out about certain aches, pains and other things that used to panic me.

            Yet, recently, I learned another lesson: that having a child with a rare disease will keep me second-guessing my choices regarding her care; that I’ll feel guilty about my decisions surrounding her symptoms no matter what I decide; that I’ll think I’ve made the wrong choice for her no matter what.

            I came to this emotional revelation a few weeks ago when she began complaining of stomach pains again. I gave my pat response I’ve learned over the years and on a Sunday evening, we went through her bed time routine as usual even as she persisted that her stomach hurt. The next morning, after she was dressed for school, I happened to caress the side of her head and realized she was warm. Her temperature was only 100.3 but I called school to let them know she wouldn’t be there. She was still saying her stomach hurt but her tone had changed to one of intense pain and urgency. I called her doctor and they agreed to fit us in later that day. I gave her some Motrin and let her lay down. Less than an hour later, I went in to check on her and found her white as a sheet, teary eyed and burning up. Her temperature had risen to nearly 103.0 even after a dose of medicine. I called the doctor and they said to take her to the Children’s Hospital immediately.

            After several tests and an x-ray, I learned that she was severely impacted. I was given a prescription for laxatives to give her twice a day for a week and told to continue maintenance laxatives so this didn’t happen again. The two lead doctors said this could have been related to her hEDS but we can’t know for sure. I sat there waiting for our discharge papers feeling silly all over again. I’d thought she had appendicitis or a similar serious condition and here she was constipated, albeit significantly. When one of the doctors came back in, I told him I felt ridiculous and he said, “Having a sick child can make you doubt yourself. Don’t let it. You’ve done the right thing.” It was then that I realized I was still jumping to conclusions that were far more serious than the end diagnosis (and thank God for that!); I was beating myself up for not taking her stomach pain seriously enough, for not taking action the night before even though if I called the doctor over her every stomach ache, it would be a daily, unnecessary occurrence.

            Rare diseases are tricky enough. Having a child with one is an emotional entanglement of worry, self-doubt, guilt, fear and feelings of inadequacy. I’d rather rush to the hospital and find out it’s simply a symptom of her hEDS than not act on it at all. But I also can’t rush down there each time something comes up. I feel jerked around by her EDS at times, like it’s playing a game and I can’t win no matter how hard I try. There’s one thing I know for sure though: that my daughter is uniquely wonderful; that’s she’s strong, creative, funny, intelligent; that she’s loved; that she brightens my life and many others. Her having a rare disease is a tiny, miniscule part of who she is. But it makes up a huge part of my emotional focus as her mom.

 

 

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A Motherhood Milestone You May Not Relate To

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            Two nights ago, I reached a milestone. I doubt it’s one many other parents reach. I doubt it’s a milestone other people would even consider. But for me, it was major! My daughter is 7-years-old and has had many sleepovers at other people’s houses. I can’t even begin to think of how many parents have hosted her in their homes. Yet, not once has she had a friend stay over at our house. It’s not that invites haven’t been given; nobody’s taken us up on them. Most often, instead of the friend staying here, the parent(s) will offer to have my daughter over.

            But the other night, she had her first friend stay at our house. I was so elated and grateful when my friend asked me if I would mind her young son staying at our house. To be honest, I was also shocked that someone was finally trusting me with their child overnight. Her son and my daughter attend the same school; I’d be picking them both up, have her son here overnight and then take them both to school in the morning. I thanked her for her trust profusely and told her it was the first time someone was letting their child stay at our house. She commented that maybe it was due to people not wanting to ‘burden me’ because they know I have two chronic illnesses on top of my physical disability. Yet she also made the remark that people simply aren’t aware of all that I’m capable of; they make a judgement call based on their assumptions and don’t give me the benefit of the doubt. She said she knew I could do it and wasn’t worried in the least.

            I’d often wondered if the reason we hadn’t hosted another child overnight was due to my illnesses or disability. It had made me feel a little inadequate, less than and different to realize people were quick to let my daughter stay with them but never to let their child stay with us. It’s a feeling and a situation I doubt most parents experience unless they’re like me. People frequently comment that they ‘don’t know how I do it,’ ‘will help me whenever I need it’ and ‘are inspired by me’ for being a disabled single parent. But what they don’t understand is that I’m not an inspiration; I’m just a parent like them; that I don’t know any other way to do and live my life except this one so to me, it’s not harder than anyone else’s life. Yes, I need help from time to time, but everyone does. Every parent (especially single parents!) needs a break now and then. It has nothing to do with my disability. What other parents don’t realize is that I can’t imagine how they do what they do! I get worn out just watching some of my friends run around on their healthier legs or working full-time then coming home to take care of their house and family, most often with multiple children. It’s not about the life we live or how we’re living it; it’s about our perspective, which we only have through the lens of how our own lives work.

            So, back to the other night: I picked the kids up from school and we chattered away excitedly in the van on the way home. They both had homework so that came first. Then I fed them dinner, let them play for a while and got them both ready for bed – teeth brushed and all! I read two books, sang them a song and left the bedroom. The next morning, I laid their uniforms out, made them breakfast, packed them both lunches and drove them to school… on time. Doesn’t that sound like what would happen in a nondisabled person’s home? Doesn’t that seem so bland, so common, so uninspiring?!?

            My parental milestone flew by without flaws nor fanfare but to me, it was dazzling! It made me feel like I belonged to the parents’ club. I felt not only trusted but respected. Because my friend and her husband didn’t hesitate in allowing their son to stay with me; they didn’t question me as to whether it would ‘burden’ me or be ‘too much.’ They treated me like they do anyone else; they simply saw me as another parent. And sadly, if more of my friends and parents of my daughter’s friends would see me this way, treat me this way, I never would’ve had a milestone to begin with. It wouldn’t have taken 7 years for someone to trust me with their child; to know that I’m just as capable as any other parent; to see me as they see themselves.

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Playtime for the kiddos!

Health-care Workers Skepticism Can Have Dire Consequences to Patients

I am writing this in hopes that others with rare disease(s) recognize the importance of speaking up; and health-care professionals of all types realize the importance of listening.

 

I found myself out of one of my medications and had no refills left. Out of the plethora of meds that I take, this is the one that keeps me alive – I have Idiopathic Intracranial Hypertension, a rare disease which affects only one percent of the world. For an unknown reason, my body stopped absorbing my spinal fluid, so it builds up in and around my brain and spinal column. Fortunately, I am one of the 50% of patients who respond to this medication, which was the only FDA-approved med in my state at the time of my diagnosis nearly ten years ago. I went into ‘remission’ after one year of taking the medicine. Remission is a commonly debated term among the IH patient community as well as with doctors and specialists. For my purposes, I use it to describe the ceasing of my IH symptoms and leveling of my spinal pressure while ON medicine. However, in 2015, my CSF (cerebral spinal fluid) levels began to rise again, causing decreased vision, headaches and pressure within my head. My dosage was increased but I’ve since lost some vision in my left eye and still deal with headaches and pressure at times. Without the medicine, my CSF would increase until I experienced blindness, seizures, stroke or death. So, the medicine literally keeps me alive!!

My pharmacy contacted my doctor’s office on a Friday about refilling the medication but got no response. The pharmacist was kind enough to give me an emergency supply to last until Monday morning. Rx supply When Monday came, I contacted the office twice through an online messaging system, imploring them to refill my prescription that day as I was out of the med. By the afternoon, my pharmacy still hadn’t received an order to fill so I called the office. The nurse asked what I needed, and I explained to her the urgency of having the prescription called in that day. When I mentioned what the medication was used for, she replied with sarcasm, “It drains your spinal fluid?” I said, “Yes, I have Idiopathic Intracranial Hypertension.” She said, “Huh, never heard of it. Well, I’ll send this to the doctor and tell him you say it’s urgent.” I got off the phone feeling hurt, frustrated and angry. Just because she’d never heard of my disease didn’t make it nonexistent! Her skepticism could endanger me! Sure enough, I called the pharmacy Monday evening to learn that they’d still not received an order.

So, Tuesday morning, I called the doctor’s office again in a near panic. I learned from the young lady who took my call that the nurse had not sent the message to my doctor but to his nurse and no action was taken! I again repeated how important it was that I begin taking this medication as soon as possible and why. I was told that she was marking it urgent and that if the pharmacy had not received an order within an hour, to call back and ask for her specifically. Low and behold, I was finally listened to! She listened and acted, and I had my medicine in a few hours!!

I thought about what would have happened had I not been assertive in advocating for myself. I thought about patients who may not know they have that right or feel confident enough to speak up. But, when people have rare diseases, there are medications we take that literally mean life or death for us. We matter! We’re important! We deserve to speak up for ourselves! We deserve to be listened to! We deserve to LIVE!

And, how about the health-care workers? The ones who aren’t knowledgeable about every rare disease? The ones who dismiss patients as hypochondriacs or dramatic instead of listening to them and taking them seriously? This kind of attitude can cause much harm in the life of a rare disease patient, not to mention their family.

So, if you have a rare disease like me, SPEAK UP! And if you work in the health-care system, LISTEN UP! Let’s start giving CARE to our RARE!