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7 Challenges I've Encountered With Having a Rare Disease

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Having a rare disease can come with many additional problems that can make treating the disease accurately and knowledgeably quite difficult.

These are the ways having the rare congenital disease renal tubular acidosis (RTA) has affected my life.

1. I wasn’t diagnosed until I was an adult, despite seeing my first nephrologist, due to severe problems and pain, at age 3. They didn’t know what was wrong and it didn’t fit the normal lab results of the more common kidney diseases. So, when my lab results improved, they discharged me. The problem is that kidney stones and infections cause symptoms and lab results to go up and down. I was also misdiagnosed with a different congenital kidney disease when I was 18. I was properly diagnosed at age 23.

2. The impact of not being diagnosed until adulthood is enormous. Family and friends thought I was just overly sensitive to pain when I was a child, which caused me to believe the same. This led to me now having permanent scarring in both of my kidneys, from 18 years of zero treatment on infections and stones. It has also led to me often doubting my own pain or the severity of how sick I am.

 

3. When I tell new doctors I have renal tubular acidosis, I’ve only met two who knew anything about it. Others have asked me if I’m “still on dialysis.” My kidney disease causes my kidneys to filter too quickly, and causes chronic stones and infections, among other things. Kidney failure and dialysis is usually a symptom caused later in life, due to the damage done to the kidneys over a lifetime of infections and stones. Thankfully I have not needed dialysis yet, but that does not mean my kidney disease doesn’t affect my life and my health severely. I have had my kidney shut down. I have needed emergency surgeries. I have scarring. I get chronic infections and stones and severe pain. I also have problems with my mineral and electrolyte levels, which can get quite serious.

4. I had a seizure, caused by low phosphates, which is a symptom of my kidney disease I didn’t know about and my doctors didn’t know about. My phosphates had never been tested before. Luckily the emergency doctor knew what RTA was and knew the seizure could be caused by it. This led him to testing my phosphate levels and discovering they were very low, which led to me being given a prescription for it.

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5. New research and better treatments are not developed as often for rare conditions. There have been no new treatments available in the 15 years since I’ve been diagnosed. I am unable to tolerate the only treatments, so I have to take inferior medications to try to minimize the impact of this disease on my body.

6. It’s hard for me to find forums and support groups. I’ve only found one small one, and there are only a few people in it who have my exact type of RTA, because I have the rarest type of this rare disease.

7. Many doctors will initially question my diagnosis, because it is so rare, until they find out which specialist diagnosed me. I’ve met a few people who have been diagnosed, started treatment and got referred to a new doctor, and are then told they don’t have it. It’s confusing and stressful when you get a diagnosis, start treatments and then have other doctors tell you to stop treatment, saying that you don’t have it. I’ve been lucky that mine was diagnosed by a respected doctor in the field who did all of the extensive, proper tests.

Having a rare disease adds some difficulties, and these are just a few of the main ones I’ve encountered. I’d love to hear other ways it has impacted your life differently.

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Thinkstock images by Photodisc

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The Various Types of Kidney Stone Pain

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I have renal tubular acidosis, which causes me to constantly make kidney stones. The pain of a kidney stone really depends on many factors. I’ve been asked this question so many times, so I’ve decided to list the differences.

Sand/gravel: These are very tiny stones that look like little pieces of sand. If you pass one or two, you may not even feel it, or it will feel like some scratchy, irritating pain. If you pass big clumps of these at once, it can be quite painful. As painful as a small stone, or even as painful as a large stone, if the clump of them is very sharp. It can feel like you have a bad UTI when you’re passing these tiny stones and it can cause anywhere from minor pain to quite bad renal colic.

Little stones: These stones are bigger than sand, but can pass on their own, usually. My docs told me that women can successfully pass stones three mm and smaller. Men can pass ones a little bit larger. I’ve had some three-mm ones that were very difficult to pass, and got stuck on the way down, in various areas. So, I consider three-mm stones to be pretty awful.

Smaller than three mm: Painful. Quite painful. Enough to make you drop to the floor when they cause spasms. These are around the size that most people who have passed stones without needing surgery have had. They can cause serious renal colic pain and hurt quite a bit as they travel. Some people faint, even from these small stones, but some people have a fairly easy time. Here’s where something else comes in to play. Some stones are very jagged and sharp. They are the worst of these small stones. They tear your tissues and cause bleeding, more pain and often cause infection in the tissues that were torn. Smoother stones are much easier to pass and far less painful. Also, men have larger/wider urethras than women, so they have an easier time passing this size of stone.

Stones aren’t all the same. I’ve passed more than I could ever keep track of in my lifetime and they are all different.

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Large stones: These suckers are the ones doctors talk about when they say kidney stones are the most painful thing a person can go through. These stones, when they move in the kidney, cause an enormous amount of pain. When they try to pass out of the kidney, they get stuck either at the end of the kidney right before the ureter, or in the ureter. The ureter is the tube between the kidney and the bladder. Urine flows through the ureter in order to get to the bladder. It then flows from the bladder into the urethra when you urinate.

Getting a stone stuck in your ureter is agony. It blocks the urine flow, blocks the kidney, so urine starts to build up inside the kidney. The kidney starts to swell and swell and swell. This is extremely dangerous, and emergency surgery is needed or you could die.

A stone can also get stuck in the urethra, if it happened to somehow make it into the bladder. This is also very dangerous as it causes your urine to back up in your bladder and both kidneys.

When I’ve had large stones stuck in my ureter, I’ve hallucinated, vomited, screamed and cried. I’ve never fainted from one. I kind of wish I would. Nothing can help ease this pain. It is unbearable. The renal colic is like nothing I can explain, but I’ll try. Imagine your kidney is a balloon. You continue to keep filling it, until it is ready to burst and then you still keep filling it. But it’s not bursting. It needs to burst. But it’s not. It’s starts to spasm. Clench. Burn. Squeeze. It’s like a knife is cutting you while a vice is squeezing you. Sharp pains radiate from your kidney, down into your ureter and bladder and pain is all you can feel. All you know. You can’t sit, lie down, stand. Nothing helps.

I’ve had some different things done, surgically, depending on where the stone was stuck.

One time, mine was close enough to my bladder, had made it far enough down the ureter, that the surgeon was able to go in and do a “basket extraction.” What they do is put you out, insert a device into your urethra, through your bladder, and then into the ureter. The basket device grabs the stone and they pull it out.

Another time, my stone was too high up. Still in my kidney, but blocking the ureter, so no urine was able to exit my kidney. So, they had two options, open up my back and kidney and put a tube into my kidney in order to drain it and save my life. Or, they can put a stent into the ureter. The stent prevents the stone from obstructing the flow of urine. Keeps the ureter open for business. I chose the stent option.

After they inserted the stent, I then had to go for lithotripsy treatments, to blast the stone into smaller, passable pieces. Initially, when they first tried to do lithotripsy, my stone was not showing up on X-ray. They can’t blindly do this treatment, it would damage the kidney, so, I had to keep going back until the pesky stone showed up again, so they could zap it.

They keep the stent in you until you’ve passed the majority of small stone pieces, in order to prevent the kidney from being obstructed again. So, I had the stent in me for a few months while I passed all the stones. I felt pretty good with the stent, although it did take some getting used to. It basically looks like a bent wire coat hanger. It feels very strange to sit and bend over, when a stent is inside you. When they removed the stent they didn’t even sedate me. I was terrified. They just used a topical numbing agent. But, it wasn’t as bad as I had feared.

So, there are various levels of kidney stone pain. Just because you, or someone you know, has had one, the pain experience can be vastly different. The only times when the pain has been consistent, in my experience, is when the kidney is obstructed. Obstructed pain always feels the same. And I wouldn’t wish it on anyone.

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Thinkstock photo via Tharakorn.

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How Being My Mom's Caregiver Changed My Life

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I’ll never forget my mom’s reaction the first time she saw me walk. I’d walked since I was about 5 years old, but as I approached 40, my gait was drastically different. I’d just had selective dorsal rhizotomy (SDR), a life-changing surgery that removed the spasticity caused by cerebral palsy. While we waited for the elevator to open, my mom’s eyes welled up when she said: “I’m sorry, I didn’t know.”

Standing there stunned, clutching my walker, I hugged and reassured Mom, trying to hold back my own tears. I cried realizing the beauty in the moment —  the fact that she had this thought and the ability to express it to me. As Alzheimer’s invaded my mom’s brain, she was having a much harder time understanding things, she was frequently at a loss for words, and when she tried to speak, she often didn’t make sense.

My mom raised 11 children without driving a car or using a computer. I am her youngest child, the only one born with a disability. We’d never really discussed my cerebral palsy or how it affected either of us. When I saw the pain in her eyes as she apologized, I knew what I had to do: pay it forward, share my SDR story far and wide! I didn’t want adults and children with CP or their parents — to stumble upon this surgery on Facebook like me. I discovered SDR when I entered a caregiver contest in a desperate attempt to help my mom. I wasn’t looking for something to help my disability. My love for my mom led me to the surgery that would change my life.

I believe knowledge is power, and my goal was to give the CP community this game-changing information. If my story helped one person or one parent like my mom, who feels they didn’t do the best for her child, it would be worth it. On July 29, 2013, (four months to the day of my surgery), The Huffington Post published my article: “SDR: Life-Changing Surgery for Cerebral Palsy.”

What happened next is truly amazing! In the four years since I shared my story, it’s been re-published, referenced on CP blogs, etc. I’ve heard from so many people — in the U.S. and around the world — about how my article changed their life or their child’s life. I mentor potential candidates, answer (non-medical) questions whenever someone is considering the surgery. SDR led me to a greater purpose. I’m a disability/SDR advocate raising awareness for cerebral palsy on my blog, and my What CP Looks Like Facebook page is changing the world’s perception of people with CP.

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My mom helped people her entire life.  As her daughter and one of her primary caregivers, I’m proud to carry the torch of keeping both the tradition of giving — and her memory (she died four months ago) — alive.

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What It's Like to Be Exhausted by Day, Wide Awake by Night

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Discussing the difficulties with insomnia and feeling fatigued all day but wide awake all night.

Read the full version of What It’s Like to Be Exhausted by Day, Wide Awake by Night.

Read the full transcript:

What It’s Like to Be Exhausted by Day, Wide Awake by Night

Sleep.

When you get a good night’s sleep, you wake up refreshed and ready to start a new day full of energy, and when the day is over start the process all over again.

But what if sleep doesn’t refresh your body, refill it with energy?

What if you’re unable to sleep at all?

I am exhausted all day long, with no improvement.

I used to try everything – coffee, energy drinks, espresso, naps…nothing helped.

And then, when it comes time to go to bed at an acceptable hour, I’m not able to sleep, even though I’m so worn out I don’t want to get up to use the bathroom.

I sit up all night, praying I drift off into the darkness that I dream of.

I wake up in the morning and realize I only got three hours of sleep.

Some days are not as bad; I’ll admit it.

Those days I do more than usual, like go to the store, go outside with my dog and spend more time standing up than sitting down.

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And I feel great about myself that day. Then, the next day, the fatigue sets in again.

It is a hard thing for friends and family to understand, me being tired all day, every day.

I have trouble maintaining a regular job, keeping plans, and making it to every major holiday with family…the list goes on and on.

I’m thankful for the good days that I have, even though they are few and far between.

It gives me something to look forward to on the days I’m stuck in bed wishing I could be outside, swimming, walking, basking in the sunshine and just being the normal me.

Written By Lauren Eline

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What My Sons on the Autism Spectrum Have Taught Me

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As I sit down to write about what my sons have taught me through their struggles and triumphs living with a disability that they might not fully understand yet, I realize it’s going to be difficult. It would take far less time to list what they haven’t taught me. I just celebrated my seventh Mother’s Day. I was 25 and naive when my first child was born. Go ahead and do the math. I didn’t know what I didn’t know. I mean, I did a lot of babysitting growing up and I was a nanny for twin toddlers in college, so obviously I was qualified to be a mother, right?

I didn’t know that the only food I’d be able to keep down for the first four months of pregnancy was Kraft macaroni and cheese. I didn’t know I would call my pediatrician’s emergency line at ridiculous hours for ridiculous reasons (“Why is he sleeping so much?” “Is green poop normal? Google told me it could indicate too much iron.”) terrified that I’d miss something. I didn’t know I would miss something. I would pass off my sweet, docile toddler’s dramatic and overnight behavior change just before his 3rd birthday as acting out because of the new baby coming. I would blame his meltdowns on attention-seeking while I was consumed with caring for a baby and his father traveled. I would tell myself the appearance of phobias were just things he’d grow out of and that all kids were sensitive to the shrieking of baby brother. I let people tell me he would adjust to kindergarten when he was 5. That was one of the most crucial lessons my eldest son taught me. He taught me not only to listen to him but to also listen to myself and trust my mom instincts. I believe God gives us those instincts for a reason. No one knows your child like you.

I pulled him out of school under the wagging fingers of the school social worker, principal and teacher, who believed the problem was me. I was being too soft. That his hands clamped over his ears in the lunchroom, the tears rolling down his 5-year-old face, and the gagging at hot lunch day were not indicative of something more but a deliberate act put on by a child who simply didn’t want to go to school. But I had swallowed and indeed fed myself the “kids do this” line too many times. I have always gone far beyond being a people-pleaser, struggling most of my life with anxiety over what people think of me. While counseling was a huge tool in my overcoming this, it was my son A who taught me that what people believe about me is not nearly as important as what I believe about myself, and others’ opinions can’t hold a candle to what’s best for my child. A taught me that I can’t control what people believe, and just because someone believes something doesn’t make it true. When A was diagnosed with autism spectrum disorder at 6 years old, he taught me about self-forgiveness. I had to forgive myself for what I didn’t know. It had been wrong of me to punish him for meltdowns he couldn’t control. He was teaching me how to parent him and he was teaching me how to be kind to myself.

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When I began homeschooling A, it was truly my job to teach him, and it was daunting at first. Once again, he’s taught me so much more. Some days would make me question myself again. Maybe everyone’s right; maybe I can’t do this. He’ll fall behind. But they weren’t and I can and he didn’t. A year of intensive therapy, an amazing hybrid school where homeschooled kids attend small classes twice a week, and a lot of learning later, A has blossomed in a way I could have only hoped and prayed for. Homeschooling is absolutely the right decision for him, despite the well-meaning advice from naysayers, including therapists. A taught me to have confidence in myself, and in him. A taught me that the toughest situations can get better with a lot of faith, hard work and patience. A taught me that the autism diagnosis I was so afraid of is not a prison sentence but merely a roadmap, a tool. The autism that makes it difficult for A to participate in large groups, the anxiety that makes sounds, textures and smells hard for him, also makes him understand others’ differences. When A sees a child throwing himself on the floor in the grocery store, he will be the first to say, “I feel bad for him and his mom. It seems like he’s having a really hard time.” He has compassion for a situation that many adults sadly approach with scorn and assume to be “bad parenting.”

I can’t leave my precocious son E out of this conversation. E was spitfire before he was born. He was so active, his little feet knocked one of my ribs out of place! Little did I know this little boy would change my flat screen world to three-dimensional HD color. E started teaching me when he was an infant. When I say he never slept, I am not exaggerating. The first time he ever slept more than 90 minutes at a stretch, he was 15 months old. The well-meaning advice-givers told me to let him cry it out and that I was spoiling him. Now, I am not against the cry-it-out method itself, but E needed to be held. He needed to rub/pinch my arm and comfort nurse. He needed touch and motion to feel calm and secure. Since he was conceived, E and I have had an almost uncanny connection. I knew I was pregnant with him even when test after test showed one line. You can’t not know E is there. If you know him, you know what I mean!

E has always taught me what he needs. To this day, E still needs touch to fall asleep or to calm down. E taught me that it is possible to do whatever you need to do for your children, even function on an hour’s sleep. Moms are superheroes, whether your child is “typical” or has a disability. When E started preschool at the same school A attended, he taught me to be flexible. We loved (and still love) the school, but it became apparent that E needed more than the school could provide. Due to his difficulty following verbal instruction, E was not able to complete our school district’s evaluation process accurately. He did not qualify for special education that spring, at 2 and a half. In the fall of his second year of preschool, I returned to the district’s early childhood center armed with the results of a private evaluation completed by an occupation therapist. The results showed that E had dyspraxia and sensory processing disorder. He was reevaluated at the early childhood center and this time he qualified for special education placement, a full IEP, and bus service. E has been obsessed with school buses forever, so this was and still is thrilling for him. The child who struggles with transitions runs out to that bus every day like it is a flying carpet arriving to take him to Disney World.

E taught me persistence. E taught me advocacy. E taught me that one person’s school bus is another person’s golden chariot. E teaches me courage every day. The first day that bus arrived to take him to a brand new school, he jumped on and bravely waved to Mommy from the window, headed for the unknown. E teaches me that life is an adventure. When I mention in conversations that E receives special education services, I’ve been met with an, “I’m sorry.” Please don’t be. I’m not. E is thriving. His speech has really taken off.

When E received his official autism diagnosis at 4, it wasn’t a surprise to me. Applied behavior analysis therapy was recommended. I was nervous and overwhelmed. A lot of hours, a lot of therapists coming and going through our home, and varying opinions in the autism community left me unsure. Still, we tried. The benefits are already apparent to me. E has taught me patience.

E teaches me tolerance and compassion. Public outings can be a challenge. He jumps first, asks questions later. If you’ve seen me out and about with E, you may have seen him elope and me running after him. E does not do this to be naughty. He does it because the world is his playground and when he sees something interesting, he runs straight for it. His expressive language is delayed, and verbal communication is a challenge for him. It is difficult for him to stop and say, “Mom I want to go see that.” Conversely, E is prone to sensory overload. When he needs to escape a crowded, noisy, bright place, he will simply take off. He may also seek sensory input by touching things, repeating phrases or making loud noises/speaking loudly. Sadly, people gawk at E when he does these things. You can’t look at E and see that he has a disability. E has taught me to have a thick skin. Yes, public outings can be exhausting sometimes, but I will not deprive him of going to fun places like the museum or Rainforest Café.

E has taught me that there’s often more to behavior than meets the eye, and I’m not just referring to autism. I feel like I have become a more accepting, less judgmental person all around. I still have a lot to learn, but I would like to think I’ve learned to choose kindness over judgment more often. My child on the floor of the Lego store is not being a “brat.” He is experiencing sensory overload due to a lot of people, fluorescent lights and colorful displays. Likewise, the mom on her phone at the park may be burned out. This might be the first time her kids have entertained themselves all week and she’s finally sitting and catching up with friends or reading an eBook. The person with the bad temper who seems angry at the world may really just be sad. I’m not saying behavior should be excused, but there’s usually an explanation. E has taught me that the world still has a long way to go when it comes to acceptance.

I believe my boys have taught me more than I could ever teach them. Seeing them try, struggle and try again teaches me strength. Being in tune to their needs has helped me to be in tune with my own. When A goes up to his room with noise-canceling headphones, his blanket and his Iron Golem stuffed animal, he teaches me it’s not only OK but important to take a break when it’s needed. When E runs like the Energizer Bunny, he teaches me to never apologize for uniqueness. My boys have taught me that some people will never understand, never try to understand, and that’s OK. We won’t hide away to make them comfortable. My boys have taught me love beyond measure, patience I didn’t know I was capable of, self-care, grace, and that the world is a better place with them in it.

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Thinkstock image by Design Pics/Don Hammond

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The Teacher Who Inspired Me as a Student With Cerebral Palsy

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As a high school student with cerebral palsy, taking health class was therapeutic. I learned it was acceptable to love myself regardless of my weaknesses. My teacher, Dr. Carlos Lugo, encouraged his students to have healthy attitudes and high self-esteem. He suggested that his students look in the mirror every morning and say, “I am important. I am unique. I’m worthy as a person.” This was a way to create a positive image about ourselves, an image that would guide us throughout our lives.

I was the only student in Mr. Lugo’s class with a physical disability. He never treated me differently from the rest of the class. I noticed special ed students were often treated differently from students enrolled in regular classes, especially in terms of expectations for higher education.

Mr. Lugo encouraged the health class to look with optimism toward the future and to set goals despite any challenges or criticism we might face. I felt especially motivated when he encouraged everyone in class to attend college. I never before heard any of my teachers mention a word about attending college. His advice made a strong impression on me.

This June it will be 20 years since I graduated from high school, and I am still in contact with Mr. Lugo. We have become close friends. When I am going through a tough time and I need encouragement, I just grab the phone and call Mr. Lugo. Hearing his words of wisdom helps me to cope with the situation. If for some reason he is unable to answer my call at that moment, he responds back the next day or so.

Throughout my college journey, I kept Mr. Lugo updated about my progress and my setbacks. I remember a couple of times when I phoned him and explained how challenging it was for me to keep up with my academic responsibilities. He always had encouraging words for me, even when I returned to college after dropping out during one of my most difficult period. I especially recall when he told me this: “The  goals that seem too hard to accomplish are the ones that end up being the most rewarding, because of the struggles that we had to encounter along the way.”

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Sometimes talking over the phone is not enough. I ask if can come over his house a Sunday evening. Like a father and a daughter we spend time sitting in the living room talking while we enjoy a glass of wine. Talking with Mr. Lugo is like talking with my own father. That is how close our friendship is. Then, his wife cooks dinner and invites me to join the family at the table, making me feel at home.

Four years ago, after a very long journey, I obtained a Bachelor’s degree in
communication with a concentration in print journalism and a minor in English.
Graduation day was a long and exciting day for me and for my family and friends. The ceremony was held in the morning and lasted for three hours. Afterward, we went out for lunch to celebrate. Once we got home we were tired. All my parents wanted to do was to take off their shoes and relax.

Then I received a phone call from Mr. Lugo’s wife to congratulate me on behalf of the family. He wasn’t able to attend my graduation due to his busy schedule. A while after I hung up, I told my parents I wanted to stop by his house. We lived just a few minutes away.

I called Mr. Lugo’s wife back, and asked her if he would be home and if it was OK for my parents and me to stop by. His wife said yes. It was a weekday and my parents thought that it wasn’t appropriate to visit him on a weekday, since he is a very busy person. I was determined to go anyway. It felt important for me to visit Mr. Lugo while I was still wearing the graduation gown I had put on early that morning.

Once my parents and I arrived at Mr. Lugo’s house, we were welcomed by him and his family. He asked his wife to take a photo of the two of us. For me, going to Mr. Lugo’s home and being in a photo alongside my former teacher and mentor while wearing my graduation gown, was my expression of gratitude. It was a way for me to say to Mr. Lugo, “Thank you for believing in my abilities. Thank you for not focusing on my disability. Because of your support and encouragement, I was able to start a new journey and overcome my initial insecurity about accomplishing it.”

Like a farmer who plants seeds every spring and then gathers his harvest in the fall, Mr. Lugo helped me to grow. Back in high school, he planted a seed of healthy self-esteem in his students. The seed of believing that I was capable of reaching my goals despite the criticism and setbacks I might encounter along the way.

I strongly believe that there are many wonderful special education teachers from different backgrounds out there doing an excellent job. Sharing my own story is a way to point out the difference these teachers make in their students’ lives every day.

Juana Ortiz’s book “I Made It” is available on Amazon.

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