Finding Strength You Didn’t Know You Had

“Your blood work came back abnormal. These levels indicate your child may have Down Syndrome, so we are going to send you for a higher level ultrasound and we may need further testing like an amniocentesis ….”

The fog rolled in and the genetic counselor’s words sounded more like the teacher in Charlie Brown. I sat there, stunned, mouth agape, thinking, “I’m only 20 years old. I don’t even know how to be a parent, much less the parent of a child with Down Syndrome. How am I going to do this? What do I do?  I’m not cut out for this. I can’t do this.” I’m brought back to the sound of the genetic counselor’s voice as she’s explaining my “options.” Wait, what? Adoption? Abortion? This is MY baby we’re talking about. I’m not just going to get rid of her. And in that moment I knew, Down Syndrome or not, I was going to tackle this head on.  My daughter was born without any complications and without Down Syndrome.

Fast forward almost 5 years later and in walks the neonatologist and she slowly starts to explain “Your son has some interesting characteristics like a flat nasal bridge, thin philtrum, webbed fingers, and a significant heart murmur. On their own, these things aren’t usually anything to worry about, but when they present at the same time they indicate some type of syndrome….”  And cue the teacher from Charlie Brown. I’m speechless, what is happening? I’m vaguely listening to the doctor and as she tells me he is going to have to be transported to another hospital for further testing I feel the tears rolling down my cheek. I see my significant other jaw clenched, tears welling over. Our whole world rocked, in an instant. As she leaves the room we look to each other and start the “What are we going to do?” talks and wonder how we’re going to explain this to everyone. “I don’t even want to say anything about this on Facebook” he says. We have no clue what is going on, terrified that our son is being transported away from us all while I’m still stuck in a hospital bed. 14 hours post c-section I was walking around my room and 36 hours later I was discharged.

Over the years, our journey has taught me that I possess more strength than I ever thought possible. If you had told me 4 years ago, after that neonatologist left, that one day I’d be sharing my story and helping others on the journey I probably would have laughed in your face. Me? Me, who didn’t want to share anything with my friends or family on Facebook would be blogging, giving presentations, and helping others? Yea, right. Except, that’s exactly what happened.

Somewhere along the way I found the courage to tell our story and from that has come the most amazing opportunities, friendships, and healing. I have now become a mom who can walk with others on the journey and help them see hope even in the most hopeless situations; help them find the strength they didn’t even know they possessed.  I don’t pretend to be superwoman and I don’t want anyone to think that of me either. I’m not superwoman. I’m just a mom. A mom whose love for her child would move Heaven and Earth before giving up. Just like any other mom.

A few weeks ago, I witnessed the other side of the coin. I have accompanied families to appointments before, but not a single one jolted me back to that hospital room when the neonatologist flipped our world upside down like this one. I attended a genetics appointment with a family to take notes and help them figure out the next steps after receiving the diagnosis. Only, I wasn’t fully prepared for what happened next. As the doctor delivered a diagnosis I was unfamiliar with, I opened up Google on my phone and began researching then and there. Then, like a ton of bricks in an article –

This disease is always fatal. Most patients die before the age of 10.

The words blur together as I try to continue reading. I’m frantically searching for “success stories.” No, this can’t be right. I’m finding support groups, blogs, Facebook groups, calling in the troops – this family is going to need incredible support. Then, as quickly as it came, I’m brought back to the room and focused on the doctor’s words. He hasn’t told the parents yet. He’s trying to break the news easily and when he finally gets to it, they break down. Here come the tears, the cries of “How are we going to do this?” “This isn’t fair.” “I can’t do this.” “I don’t know what I’m going to do.”  The doctor proceeds to explain more about the disease. The parents are frozen. I step in with some questions. I’m frantically taking notes. When the doctor leaves the room, the parents are visibly shaken. I give mom a hug and tell her that she’s not going to have to go through this alone. I share in their grief. I tell her that she is going to have the strength to do this. I tell them to go home, take it all in, cry, scream, break stuff, grieve in their own way and when they are ready we can tackle this, together.

A few days later I check in with the family and send them my notes from our visit. I let mom know that I’m ready and willing to help as soon as she’s ready. By the next week, the family has started a Go Fund Me and Facebook page. Mom has made contact with a doctor in Chicago for further diagnostic testing and to begin participation in a clinical trial. I am in awe of this woman and this family. This mom who didn’t think she could do this has already moved mountains in a short amount of time. I am reminded that strength comes when we least expect it and often when we ourselves don’t think we even have the strength to keep breathing. 

The love a parent has for a child is the ultimate source of strength. It is the love for my child that kept me going when I thought my daughter had Down Syndrome, when I refused to stay in the hospital for the required 72-hours post c-section after my son was transported, when the geneticist finally delivered his diagnosis to us 2 years later, and it is the love for a child that I have seen move mountains for this family. If you are a new parent hearing a difficult diagnosis for the first time or a seasoned parent entering unknown territory, just breathe. You WILL find the strength and everything is going to be okay.

 

 

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Why We Celebrate Rare Disease Day

Through the years, I have become extremely passionate about raising awareness of things I never knew existed until I was affected. Also through the years, I have been criticized for “jumping on the bandwagon” to simply share a photo, a ribbon, a video. But, it is about so much more than that. Awareness is simply the first step to so much more. Today I share with you the criticisms and why awareness is so needed.

My Child is More Than a Diagnosis. 

IMG_3474While I do tend to agree with this sentiment, I also struggle because I know my child wouldn’t be who he is without the diagnosis. The very things I love the most about him are tied into the diagnosis. Braxton’s heart-melting smile is actually an almost universal characteristic of all children with Rubinstein-Taybi Syndrome. I love how he gets excited and his arms and body tense up as he moves his arms up and down or in and out. I love his big eyes and to-die-for long eyelashes. I love his short stubby hands. I love how he has taught me to slow down and see the beauty in the unspoken, to not take life for granted, and how to truly love unconditionally. He may not have had these characteristics were it not for RTS. Just because I bring attention to his diagnosis, does not mean that I am demeaning who he is as a person. I want you to see Braxton for Braxton. I want you to see that he is a mischief-makin’-rough-and-tumble-four-year-old little boy. But, I also want you to know what RTS looks like because one day you might run in to a family who lives in doctor’s offices trying to understand what is going on with their child, but no one knows. It took us two long years to find a diagnosis, but we know people who were diagnosed within hours, days, weeks of birth. If RTS were more known we would have had an answer right away instead of the loud voice of the neonatologist saying our son wouldn’t live more than a few weeks. That in itself is reason enough for awareness.

Rubinstein-Taybi Syndrome isn’t a disease. 

Technically, it is. Disease is defined as “a disorder of structure or function in a human, animal, or plant, especially one that produces specific signs or symptoms or that affects a specific location and is not simply a direct result of physical injury.” Rubinstein-Taybi Syndrome is the result of mutations in the CREBBP or EP300 genes which are responsible for making proteins that help control the activity of many other genes. (This is extremely simplified.) Therefore, a mutation in one of these genes is a disorder of structure and function. Unfortunately, the issue is not with the definition of disease, but in the connotation, the meaning implied or associated with the word disease. When most people hear the word “disease” they think of someone who is sick, dying, and searching for a cure. If you use the implied definition of disease, then, no, RTS is not a disease. It is a condition or disorder — but guess what, those words are actually synonyms for disease.

You’re just looking for pity.

No, actually we’re not. I don’t want you to feel sorry for me, my son, or our family. But, I do want you to support the cause. We have met professional after professional whose immediate response after I tell them Braxton has Rubinstein-Taybi Syndrome is “Oh, I’ve never heard of that”- and these are MEDICAL PROFESSIONALS. Doctors, nurses, anesthesiologists, x-ray technicians. The very people who we depend on when Braxton is sick or needs surgery HAVE NEVER HEARD OF HIS CONDITION. But, I can guarantee you that they know what Down Syndrome or Autism are. They’ve probably even had trainings on how to treat patients with Autism. You know why? Because there is now greater AWARENESS of these conditions which has led to more research and publications refuting commonly held stereotypes and myths. That’s all we want as Rare Disease Patients. For the medical community to know who we are and how to meet our needs. I need someone who understands the risks anesthesia brings to Braxton specifically due to his RTS diagnosis. Someone who understands how to read his x-ray while taking in to account underlying bone issues due to his RTS diagnosis. Someone who doesn’t mistake his silence as rudeness. Awareness is extremely important in receiving proper medical care, services, and insurance coverage.

Your Time Could Be Better Spent.

Yes, I have actually been told that I am wasting my time raising awareness, sharing a ribbon, creating a video. That I should be thinking of ways to actually help people, to understand why our children are affected the way they are, to see what needs are not being met through currently available services. Yes, these are all very worthy and need our attention as well, but that costs money. To fund research, to poll focus groups, to help introduce new disability legislation — that all requires financial backing. And do you know how hard it is to fund something people have never heard of? I do. In the work I’ve done with the non-profit, U.R. Our Hope, which helps families of children with Undiagnosed and Rare Diseases, I have seen first-hand how difficult it is to garner support for an issue that is widely unknown. But, in the last 3 years, our events have grown and our reach is spreading. The more awareness we’ve raised, the more money has also come with that awareness. Money that can be used to help families or fund research or fund the creation of an Undiagnosed national database to help patients get a diagnosis faster. Awareness is just the first step in making a difference.

Awareness without Action is Pointless. 

This I do agree with, which is why awareness, for me, isn’t limited to any one specific day and I always, always try to encourage action. Action can be as simple as taking a few minutes to research a new diagnosis or as elaborate as hosting a fundraising event to address a specific need for a Rare Disease Community. Sharing a ribbon or changing your profile picture is not enough. You need to get out and DO SOMETHING. Teach someone about what you have learned. Raise or donate money to a specific cause. Meet someone with a Rare Disease and learn about what they like and don’t like. Learn who they are as a person. Play a game with them. You will surely find more common ground than you think.

Meet some of our RTS brothers and sisters in our Facebook Album.

Learn more about Rubinstein-Taybi Syndrome at www.rubinstein-taybi.org

Donate to the Special Friends Foundation which is dedicated to helping individuals with RTS.

 

BraxtonRDDBanner

This year and every year, we will celebrate Rare Disease Day because awareness can be the difference in being diagnosed at birth or living for two years wondering when your child will die because that’s what the doctor told you. Awareness matters. It will always matter. 

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When All the Hard Work Pays Off

Braxton surprised us all today.

Braxton Using 2 IpadsUsing his talker, he told us he wanted to play his ABC Game. We gave him his dedicated play iPad with the app and had his talker next to him. The game showed the letter B and the animated image that goes along with it. Suddenly, Braxton reaches over to his talker, opens up the alphabet page and finds the letter B. We all halfway thought it was an accident but reinforced it anyway “Yea that is a B, good job, Braxton!” Then, the C comes across the screen and again Braxton goes to his talker and finds the C. Then Braxton skips ahead a few letters but goes back to his talker when he recognized a letter. We screamed and cheered like our favorite team had just won the championship.

Braxton got through the alphabet and correctly identified about 8 letters completely on his own, completely unprompted, and quite intentionally. We had him go through the alphabet a second time and I caught some of it on video, again he identified several letters. That was not what we were working on in speech or the current activity, but a HUGE milestone that we would have never reached if he only had a limited program with a few words or phrases available to him.

 

This taught me a few things and also reinforced some of our current ideas about AAC.

  1. He is paying attention when we teach.  We have been working on using the iPad not just for requests, but to talk about what is going on around us and what we see. Often, when Braxton is playing with a toy or an app on the iPad, I use his iPad to show him the object is also on his talker and he can tell me things about it, or just identify it. I just want him to know that he has that word to express. I show him the word, I guide his hand so that he has to push the button to speak the word. Sometimes he is interested and sometimes he looks the other direction with a big grin purposely defying mom or his speech therapist. But, today, he did exactly what we have showed him, but completely on his own. That’s Braxton for you, he will do things when he is good and ready to do them and not a second earlier.
  2. We need two iPads. I have seen a few recommendations to support the idea that beginning AAC users should have two devices. One should be solely dedicated to communication, so that the user understands that this is a communication tool and not just another game or object for entertainment. The other can be used for learning apps and games. We have a school provided iPad and one that was given to us through DARS. Braxton has his communication app on both iPads, but uses the school one primarily for communication. We use the 2nd iPad to model and have back-and-forth discussions with Braxton using his app. We also allow free-play and exploration with the play  iPad and Braxton will often exit out of his game to open his speech app to say something and then go back to his game. Having two iPads available at all times eliminates the need to exit the app to discuss it or to discuss an unrelated topic while still enjoying a game or movie.
  3. Early AAC Users NEED a Robust Communication System.  After today, I think back to the early programs we used and even the first school recommendation and I realize that Braxton would not have been able to do what he did today with any other communication system we have used. Even Speak for Yourself required some programming, BUT the key is that I had ABILITY to do this. Some people choose to use the internal iPad keyboard to learn letters and for a while, I did consider doing this. However, with Braxton’s limited fine motor skills, he kept opening the keyboard when he was trying to access a word, so I disabled the keyboard. I know that pre-literacy skills are important and that his class focused on a “letter of the week,” so I decided to create a page on the device specifically for the alphabet letters. Boy, am I glad I did! We wouldn’t have known otherwise that Braxton knew and recognized his letters! Thanks to the “Babble” feature in Speak for Yourself, Braxton has access to ALL of the words on his system and not just the few words we have open. In Babble, I have learned that Braxton knows more than we thought, as he finds new words and often uses them correctly. Again, not something that was possible using more limited communication apps. Having access to a robust vocabulary means that Braxton is able to show us what he knows.
  4. Let the AAC User lead. When I am working with Braxton alone or even in Speech therapy, we often get caught up in trying to MAKE Braxton pay attention to us and follow our lead, that we forget that allowing the student to direct the lesson can also be extremely beneficial. If Braxton were a speaking child, many of our lessons would cater to the things he likes and motivate him. i.e., kids that love ‘Thomas the Train’ often have lessons or activities about trains to motivate their speech and help them reach their goals. Sometimes we fail to remember that children who cannot speak also have likes and topics that motivate them. We had every intention of working on identifying Body Parts today and Braxton was having none of it. When he reluctantly cooperated, we rewarded him by letting him choose an activity. He chose the ABC game and consequently showed us that he recognizes letters and understands how to use his device properly. Had we made him stick to identifying body parts today, we wouldn’t have reached this milestone. It’s okay to sometimes let go of the plan and see where the user takes you; they just might surprise you!
  5. Re-inforce Communication as if it is Intentional, ALWAYS. I read something a while back that stuck with me. I follow so many blogs and pages about AAC that I am forgetting exactly where I saw this, but I’m pretty sure it was on Dana Neider’s Uncommon Sense Blog Page.  Someone had asked a question along the lines of  “How will my child know this app is their voice?” and Dana bluntly responded, “When you start treating it like one.” She wasn’t being rude or anything (at least that’s not how I took it), but at that moment I thought, “She’s absolutely right.” How else is a child supposed to learn that this is a tool to help them communicate? If we constantly say “Oh, that’s not what you meant” and direct the user to ‘say’ something else, or worse, if we ignore the user altogether. When a child is learning to speak and they babble “ma ma” or “da da,” what do we do? We immediately respond, “That’s right I AM momma” or “Are you looking for Daddy?” The child then learns that “ma ma” or “da da” will get your attention and that’s how they learn ‘mommy’ and ‘daddy.’ When an AAC user hits a button, we assign meaning and help them learn when we respond appropriately. Braxton ‘accidentally’ found hugs on his talker, and when I responded by saying “Oh, you want a hug” and gave him a big bear squeeze, he quickly learned what that button meant and that he liked it, so it’s now his favorite request. Even when Braxton is playing or accidentally opens Babble, I will talk to him about any word that he opens and his face lights up as he realizes I am listening and will either find the word again or say something else, like ask for a hug, once he has my attention. Avoid thinking your child is ‘accidentally’ saying something and always treat it as though he purposefully saying something so that you can help to assign meaning. THAT is how he learns it is his voice.

 

Moments like today show me that what we are doing is working and it was the right path for us. It is easy to get caught up in the work and feel like you are not making progress, but when the day comes that everything falls together just right, there is no greater reward.  I am so proud and so amazed at the progress Braxton is making with his Communication App, Speak for Yourself. I will openly admit that some days we are not the best at using the app, modeling, and following through, but no matter how often we use it, it’s available and Braxton now understands it’s purpose. I love seeing him figure things out and using the skills we have worked so hard to achieve.

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The Worst Part of “Non-Verbal”

Braxton fell yesterday.

I didn’t see how it happened.

It’s not the first time he’s fallen and I didn’t see it.

But, this time it was different. Only I didn’t know it.

Today I got a call from the school nurse.

Nurse:  “Have you seen Braxton’s foot!? ”

Me:  Panic sets in.  “His foot?  Um, no?  Why?”

Nurse:  “He hasn’t been wanting to walk today -”

Me:  “Oh yeah, I told his teacher that. He’s had a sinus infection and we think his balance is off, he’s been a bit more wobbly than usual.”

Nurse: “No, I think something is wrong. His foot is swollen, he won’t bear weight, and he cries when we try to move it.”

Mommy guilt immediately sets in.  How did I not notice?  He had therapy this morning, none of us noticed.  How in the world did this happen?

Oh, right,  Braxton fell yesterday. I didn’t see how it happened.

He fell, I heard a thud followed by a cry. I jumped up from the couch to check on him.  He was sprawled on the floor with his head against the wall.  I thought he hit his head.  I checked for bumps and bruises. I checked his eyes.  No vomiting or loss of consciousness, we’re good.

I didn’t check his foot. I didn’t even think to check.  He had no words to tell me to do so.

This morning he had therapy.

He didn’t want to climb the stairs.  In fact, he stiffened his leg and planted his feet.

We thought he was just being stubborn as he often does.

In hindsight, I remember thinking he has  sure been crawling around more than usual.

I remember realizing his balance was off, more than usual.

I remember seeing him drag his foot as he walked.

I saw it but didn’t Piece it together.

I should have noticed. What kind of mother doesn’t notice?

The kind of mother with a child who cannot express hurt and pain.

This. This is the hardest part of having a non-verbal child.

The part where they can’t tell you where it hurts.

The part when the doctors look at you like you’re a terrible mom when you say “my kid hurt himself but I don’t know how or where. something is wrong, please help me. ”


The part where your child’s pain tolerance is so high he doesn’t flinch when the doctor tries to see where it hurts.

The part where they end up taking 10 X-ray’s to check out the whole leg because he can’t tell us what part hurts.


The part where I feel helpless.

The part where I feel like I failed my child.

The part where the doctor says “Well, we didn’t find anything. Just keep him off of the foot.”

The part where I can see there is something more, but he can’t tell me and the doctors.

Of all the things I wish for my child, the one I wish for something fierce is a voice.  Words to tell me when he hurts. Words to tell me when something is wrong.  He’s not proficient with his talker yet, so that can only help so much.  Days like today are frustrating.

I wish I could say I’m glad it wasn’t worse, but what if it is and we missed it?   Braxton is clearly in pain when he  tries to walk.  His foot turns outward and he kinda drags it behind him.

But the doctor says nothing is wrong. All they saw on the X-ray is a hip issue we knew about where the hip joint didn’t fully form.  Is that why he is limping now? Did the fall somehow exacerbate that?    I don’t know. The doc thinks so, but can’t say for sure.

I wish Braxton could tell me. I wish I could make it better like a mom is supposed to.  This is the only part of my son’s condition I regularly wish away.

 

 

/// Post Update:   A few days after writing this we noticed a bruise on Braxton’s big toe. We had already scheduled an appointment with our Orthopedic Doctor. When we went for the appointment I let the doctor know we saw a bruise and some swelling at the big toe. He took a better look at the x-rays and found that Braxton had a small buckle fracture in the big toe. There was something and we almost missed it completely. He’ll be in a boot for 4 weeks.  We also found some other congenital anomalies that we did not know about before, but there is not anything we can do about them now, we can only watch them and be prepared should this happen again.

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When Being His Voice Hurts

There was a lot of hand-over-hand help, but Braxton enjoyed coloring his project.

There was a lot of hand-over-hand help, but Braxton enjoyed coloring his project.

Braxton came home with an assignment this week- to fill out an “All About Me” Poster. I looked at it and thought how fun it would be to work with Braxton helping him color it in and gluing pictures to show his classmates. All the standard questions were there, My name is ___, I am __ years old, I live in ___, and then there is a space for Braxton’s picture, and finally I get to “I want to be a ___ when I grow up.” I mentally filled in the blanks for all of the other questions as I looked it over, but when I got to that last one I paused.

I don’t know what he wants to be when he grows up.

 

Questions like that make me sad for a number of reasons.

For one, I don’t even know what I would “make-up” as a realistic answer because I don’t know what he will be capable of in the future. Sure, parents tell their kids that they can be anything that want to be and we don’t ever want to crush their dreams, but as a parent of a child with special needs I feel a greater responsibility to make sure those dreams are realistic. I want to always set my son up for success and one of the ways I can do that is by giving him attainable goals. Even if they are out-of-reach they should still be attainable, meaning that if he really worked hard and everything fell in to place, it could be possible. Picking something out of the sky hardly seems fair.

Secondly, I think what hurts most is  when I realize that he lacks the ability to answer for himself when it comes to likes/dislikes, preferences, goals, dreams, etc. Even if what he wanted to be when he grows up is unattainable, he can’t even tell me what that dream might be. I don’t know if he wants to be fireman, a teacher, a doctor, the president of the United States, or any other profession. And I feel completely guilty when I have to pretend that I know what he would say.

There is a big difference in speaking up for him and speaking for him. I will always speak up for Braxton because I am his parent and advocate. I will be his voice to make sure his needs are met and to be certain that he is treated with kindness and equality. Speaking for Braxton diminishes him as an individual and inhibits his ability to think for himself. Just because he cannot tell me what he wants to be does not mean that he does not have a dream for his future. Speaking for him could eventually send him the message that what he has to say is unimportant and not only will he stop thinking for himself, but he will then lack all motivation to speak for himself. I don’t ever want Braxton to feel that way, which is why speaking for him, even in what seems like meaningless situations (like a class assignment), brings on so many mixed emotions.

Braxton has made incredible progress with his Augmentative Communication Device, but he is still not able to fully express himself like I would like to see. I know that he will get there eventually and I’m so glad that we have given him the tools he needs to be independent in his thoughts and expressions. But, until he gets there I struggle with how to handle speaking for him when it is called for and how it may or may not impede his ability to speak to us later on.

So, how did I end up answering the question?

While I have no clue what Braxton would like to be when he grows up, I think we can all agree that whatever it is he decides to be, he will be totally and completely AWESOME!

When I grow up

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