Category Archives: Special Needs Child

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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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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The Swingset That Almost Wasn’t

Earlier this year, I learned that Braxton became eligible for programs provided by the Department of Assistive and Rehabilitative Services (DARS) Division of Blind Services (DBS). One of the DBS’ main goals is to help individuals get involved in their community and to help them do the same things as their peers. As part of this mission, DARS-DBS will cover the cost of camps, alternative therapy (music therapy, hippotherapy, aquatic therapy, etc), learning toys, therapeutic equipment, and much more.

At a recent meeting with our case manager, we mentioned looking into buying a trampoline or playground set for our backyard. A few days later I received a call that there was money in the budget for DARS-DBS to purchase a playground set for Braxton. I was shocked and elated! Braxton loves going to the playground to swing, and now he would be able to do it anytime he wanted. Not to mention how beneficial it would be for our in-home therapists to implement in their programs. We were thrilled and made plans to meet our case manager at the local Walmart to make the purchase.

The elation was short lived.

We arrived to Walmart and ran into issues making the purchase. The cashier did not know how to process the transaction using the DARS-DBS state credit account, so he called a customer service rep. The rep (who was in no hurry at all to help) finally arrived and completed the transaction. As we waited for help to load the swing set into our truck, the rep frantically came back and told us there was a problem. He said that this type of transaction was not allowed and we could not take the set with us. Our case manager tried to explain the process to the young man and let him know that the program makes purchases like this throughout Texas and have never had an issue. As the rep repeatedly huffed, puffed, and rolled his eyes he continued to insist that this wasn’t allowed per his manager. He was reluctant to help and refused to call the 1-800 number on the voucher for further instructions. When we asked to speak to the manager, he made some calls, and then simply turned around and said “Yea, my manager said we can’t do this.” After demanding to speak face-to-face to a manger, one finally arrived. We explained the situation again, pointed them to a 1-800 number on the voucher and asked that they please call that number to verify the purchase rules and how to go about processing this for us. After some time, the manager and customer service rep returned to say that hotline was closed so they could not get through to anyone who could verify this type of purchase. This all happened over the course of about 2 hours.

At this point, the manager was at least somewhat apologetic about the situation, but adamant that this type of purchase was not allowed at their store. He even brought out the Asset Protection Manager who tried to tell us keying in the account number was absolutely against company policy. He stated that he would attempt to call the number the next morning to try and get it resolved. Our case manager made plans with us to meet again the next day.

The next day arrived and our case manager called before we all headed up to the store again. The manager said he had not yet called, but would call ‘within the hour.’ Over an hour passed with no word, so our case manager called him and he said that he had been trying “all morning” but the line would just ring and ring with no answer. The case manager called the number herself and got right through. She obtained some further information about the Walmart Corporate office to give to the store manager to hopefully resolve everything. After several phone calls and several hours, everything was finally resolved and the manager gave the okay for us to make the purchase. We returned to the store and again the cashier did not know what to do and called a customer service rep. We told them which manager we spoke to and asked that they please call him to verify that the purchase could be made. Finally, the purchase was completed and we got the swing set home.

The entire situation was so poorly handled by nearly every employee involved. Having worked in retail, I can certainly understand the frustration something like this brings, but I do not at all understand the pure lack of empathy and poor attitude by the entire staff. Not one person was willing to go above and beyond “what they’re paid for” to help a customer.

There are several things that could have been done to help us out from the beginning. For one, the customer service rep should have brought the manager over immediately instead of making us feel like a burden for making him do his job. Secondly, he should have called the hotline when we arrived and the office would have been open. Instead, his reluctance dragged the time on which made us miss the people who could have helped everything. Thirdly, when our case manager brought it to their attention that she has personally made these purchases at nearby Walmart locations, the manager could have offered to call one of the other stores to speak to a manager who has done this before, but that never crossed his mind. Lastly, once the manager finally learned that this type of purchase was allowed, he should have personally gone over to the garden center and/or Customer service to let them know we would be returning to make this purchase. None of this was done. In fact, absolutely nothing was done or said to help rectify the situation.

The really unfortunate thing is that we are not the only family in this area served by DARS-DBS, and now because of this experience it would be difficult for our case manager to take another family there only to be turned away. If the manager did not prepare his staff for our arrival the day he learned of this program, it is highly unlikely there will be any storewide training and every family who enters will be made to face this kind of treatment, which is absolutely unacceptable. They have lost business simply because of their unwillingness to learn, adapt, and go above and beyond their pay grade.

Braxton on his swing set

We finally put that swing set together this week. The pure and simple joy on my son’s face, made the hassle worthwhile, but it reminded me of the fight we face all too often with the “gatekeepers.” The gatekeepers who keep us from making appointments in a timely manner, the gatekeepers who keep us from services that could greatly help my son’s quality of life, the gatekeepers who show no emotion and no empathy for the very people they are supposed to help. Everything in our life has been a struggle. Getting a swing set to help my son be like other 4 year olds frolicking in their backyard wasn’t supposed to be so difficult. There was a time I didn’t know if he would ever be able to swing or slide down a slide at the playground, much less one in our backyard. Thanks to DARS-DBS he can now have that experience just like other kids his age.

 

Swingset Therapy

The set is also now a huge part of our therapy plan. Our Physical Therapist has already had Braxton outside working with him to climb the stairs so he can slide down all on his own. I stood by and watched as they worked together. I saw Braxton’s foot go up to the next rung unprompted and thought of all the hard work it took for him to gain that skill. For now, he needs help, but one day (soon) he will be able to maneuver the playscape with little to no help. What a shame it would have been had we allowed yet another gatekeeper to keep us from having this experience.

If this makes it back to our local Walmart, I want you to look at the joy on this little boy’s face, and I want you to know that YOU helped put that smile on his face. Yes, you made it quite difficult for us, but at the end of the day it doesn’t matter whether you apologized or admitted you were wrong (although that would be nice), what matters is this sweet face and the fact that YOU have the potential to help other kids like him with much less hassle. I hope that you learned something from having us in your store. I hope that you share what you learned with others so that this wonderful state agency can continue serving children in our area. All of our children deserve a chance to just be children. Not children with disabilities, just children. Children who want to play and be free and be loved. Please don’t take that away from our sons and daughters.

 

Braxton on the slide

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An Unexpected Setback

Braxton had a follow-up Swallow Study today and we got some unexpected news.

A few weeks ago we followed up with our Sleep Doctor/ Pulmonologist and I mentioned to the PA that Braxton had recently started making a strange noise while he was eating, like he was clearing his throat and then swallowing his food. I didn’t think much of it until we were at the appointment and something told me I should tell the doctor about it, considering Braxton’s history of aspiration (swallowing liquid into his lungs). The PA was concerned enough to talk to our main pulmonologist who decided we should order a new swallow study. She also listened to his lungs to make sure they were clear, and they were.

Here is a video of what we were seeing:

 

We didn’t make any feeding changes and I made sure to talk to our Speech and Occupational Therapists, we were all stumped. Our Speech Therapist thought it could have something to do with all the ear trouble we have been having this summer since the ear and throat are all connected. It would certainly make sense if swallowing was hurting his ears and he was trying to relieve the pressure or whatever it is he was feeling. He still seemed to be swallowing normally and wasn’t showing any signs of aspiration, so we continued with our current feeding regimen.

IMG_2347Today we finally had the swallow study. I went in not expecting much of anything, but we may have a new issue to worry about.

During the test the speech therapist and the tech kept saying they saw Braxton regurgitating the food which is part of the reason we are seeing multiple swallows and the throat clearing. There were also a couple instances where it appeared he *might* be aspirating again. He was surprisingly calm and cooperative the entire time, so aside from the Barium not being so tasty, he did exactly what we would see at home. Once completed, we sat in the waiting room while the speech therapist and tech reviewed the recording to discuss their findings and recommendations with us. It took much longer than it has in the past.

 

The speech therapist finally came out and let us know that while she is not able to give us an official diagnosis, what she was seeing appeared to be an esophageal dysfunction. When you eat, your esophageal sphincter opens to allow the food to pass and then it closes so that air does not enter. Braxton’s upper esophageal sphincter is sometimes opening properly and other times it is opening and closing before his food gets to the esophagus. And there are times that the esophagus regurgitates the food which gives him trouble with swallowing. She also noted that even when everything works properly he is taking two or more swallows per bite.

So, now we need to figure out what exactly is going on with his esophagus. We’re looking at some kind of structural anomaly that we haven’t seen before. The speech therapist said she’s never seen what she saw today with Braxton. She also called in another radiologist who also said she’d never seen this. (Of course! Braxton has always been quite the medical mystery).  The plan for now is continue with oral feeds, but she was insistent that we proceed with caution since we don’t know what is really happening. We will need to cut back on his food and give him smaller bites since he did seem to tolerate that better than the larger bites. She will also be making a recommendation for us to get back in to the Aerodigestive Clinic so that our ENT, GI, Pulmonologist and a Speech Therapist will all be able to see him at the same time so we can all discuss what’s going on and formulate a plan.

I’m really not sure where we go from here, but obviously, this was not the news we were expecting. This could explain why we have had some difficulty getting Braxton to move up to thicker foods and different textures. Cutting back on feeds will certainly be a setback we didn’t expect. But, like all things, I know we will make it through.  I hope we can get some answers and clarity very soon. And to think I almost didn’t even bring it up to the doctor!

I am doing my best to stay away from Dr. Google today and patiently waiting for a follow-up with our doctors. Braxton and I enjoyed some time outside this afternoon on his new swingset. His sweet smiles and laughter filled my heart, and for a moment all was right in the world.

 

IMG_2346

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