Category Archives: Life

The Sweetest Word

For 6 years I have waited.

I have prayed.

I have dreamed.

In my dreams, I hear your precious voice. I feel the joy in my soul and pride in my heart with every spoken word. But, sadly, I awaken to see you sleeping and I know that it was just a dream. Sometimes, I  wipe the hot tears of sadness from my face as I squeeze you tightly and wish one more time, that one day, I will awaken to the sound of your voice.

Last night was different. As I lay next to you knowingly wide awake, the two of us, I heard it. The first word. It was just 3 little letters in a brief, fleeting moment. It was slow and deliberate. I quickly pulled out my camera and asked you to say it again. You spoke the word, beamed with pride, reached out for a hug, and then slowly drifted off to sleep.

As the video replayed, my heart leapt from my chest and I felt the familiar feeling of hot tears rolling down my face, but this time…this time, they were tears of joy. Never has the word “Mom” sounded so sweet and meant so much. This time, I cried myself to sleep happier than ever.

Lest I think it was a fluke, today, I have asked you time and time again, and every time I hear you say “Mom”, my heart melts.

You have had many sounds for so long, but today was the first time they held meaning. The first time you looked directly in to my eyes and said what I have been longing to hear. The first time they were more than a button on your iPad. As I listened to your baby sister coo and babble, my heart hurt thinking she would reach this milestone before you. You have worked so hard for so long, and today, that hurt was replaced with a renewed hope that soon, we will hear all of the words you have been waiting to speak. All the words we have been waiting to hear.

 

[The following is compilation of videos I have taken from last night and today. The first video is from last night, when Braxton first said “Mom.” The other clips are from throughout the day and include us talking and making other sounds so you can see the differentiation between his sounds and the very deliberate, “Mom.”] ❤

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When My Daughter Asked, “Do You Hope This Baby is ‘Normal’?”

I have yet to share our exciting news on the blog, and if you’ve followed us on Facebook, you already know…Braxton is going to be a big brother!! We’re expecting a baby girl in January! ❤

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Several years ago, the thought of having another baby after all we’d been through with Braxton was simply out of the question. I was scared and nervous to even entertain the thought. As friends of ours who also have children with special needs began expecting a child, I started to think more about the possibility. I asked them questions about how they felt, if they were doing more in-depth genetic testing from the very beginning this time, and ultimately admired from afar. At that point in time, I had decided that *if* we did get pregnant again, that I wasn’t going to be blindsided this time. I was going to ask for more testing up front so we would know what to expect this time.  Going through an uneventful pregnancy and being told something is wrong with your baby moments after birth and then waiting nearly 2 years for answers is an experience I never wanted to go through again.

But, this summer, it happened. I found out I was pregnant. We had been talking about having another baby for quite some time and finally our prayer was answered.  At my first appointment, I was 8 weeks along, and the doctor explained she wanted to go through everything as if it were my first pregnancy to be sure she didn’t forget something or assume I knew something I didn’t.  She began explaining our options for the standard “First Trimester Screen.” She told us about the standard testing they have been doing for years and explained the test and it’s efficacy in determining if a child will be born with Down Syndrome. She went on to explain that there is a new test that can predict with approximately 96% accuracy and will also tell you the baby’s gender by 12 weeks. And there is another test that can check for a variety of other conditions as well. I looked over to my husband, and knew we were on the same page.

When we spoke after the appointment, my husband asked if I wanted to do the in-depth testing, and surprisingly, I said no. He then told me he felt the same way. We decided that knowing wouldn’t change anything. We’ve already been on the journey, we’ve already got the resources and the support. If, by chance, we found ourselves on the journey again, we wouldn’t be blindsided this time. This time, we were ready. And finding out wouldn’t change whether or not we would keep the baby or make us love her any less. I realized that we were in a very different place than we were several years ago, when we thought we’d ask for every test under the sun. I knew that with my husband the systems we had in place, there was nothing we couldn’t face.

However, it wasn’t until several weeks later that I realized that not everyone was on the same page. Disability affects the whole family. I know this. Disability is a part of many conversations in our household and my daughter is very attuned to the issues we face with Braxton and more recently, with her as well. She was diagnosed with ADHD in December of 2014, and while some people may not see that as a “special need” or a “disability,” there have been some aspects of the condition that have been truly debilitating for her and we have been working hard to get her the support she needs medically and in school. She is very aware of the difficulties she’s faced and often feels like an outsider, despite our best efforts to build her up and make sure she is included.

Some time after I told her she was going to be a big sister again, she came up to me while I was cooking and said, “Mom, do you think the baby is going to be born like Braxton or like me?”  At first I thought she was asking if the baby was a boy or a girl, or maybe if the baby would have her tanned skin or Braxton’s light skin. “What do you mean?” I asked. “Do you think the baby will have a disability like Braxton? Or do you think she will have ADHD like me?”  I was completely caught off guard and said something like “Oh, don’t you worry about that. Baby is going to be just fine.” She seemed content with that answer and scampered off to watch TV.

She’s asked me some variation of this question at least 4 more times and every time, I am without the right words to say. Last night, again “Mom, Do you hope this baby is normal when she’s born?” Again, I am less than eloquent. “Baby girl, we are all born with our own special gifts, talents, and difficulties. We don’t know what to expect when the baby is born, but I promise she’s going to be okay.”

I have struggled with the disability conversation with my daughter from the beginning. How do I tell her about her brother? How do I make sure she doesn’t feel left out? What do I do when she thinks all the attention is on him and not her? We have had some struggles but for the most part I seemed to have found the right words and she has been such a huge advocate for herself and for her brother. But, now, I am at a loss again. Do I reassure her that the baby will be fine? Or will that make her feel inferior because the baby is “normal” and she’s got a diagnosis?  I have tried to tell her that there is no such thing as “normal,” that we are all born with our own special quirks and that’s what makes us all so unique.

For now, she is appeased. She is excited to meet her sister. She kisses my belly every night and talks to her sister often. Hopefully I can find the right words to put my sweet girl at ease the next time she asks. Hopefully I can help her find her way to a place of acceptance and help her move past whatever mountain seems to be standing in her way.

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To The Strangers Who Became Part of Our Family

Five years ago, four people entered our lives as strangers. I knew nothing about them, I knew nothing about what they did, I only knew that our doctors in NICU wanted us to see them all. We were new to this world of therapy and special needs. We were still convinced there was nothing “wrong” with our little boy and didn’t see what all of the doctors saw. I was hesitant to let them in our home and trying to fit them all in to our schedule was stress upon stress.

The first to arrive was our Physical Therapy Supervisor, Mary Elizabeth. She was kind and patient. Most importantly she gave me hope. I remember her telling me that “on paper” she expected to see a child doing far worse than Braxton. It wouldn’t be until years later that she told me that in the early days she wasn’t sure Braxton would make it and she wasn’t sure what she could expect from him. Nevertheless, she never let that show. She never gave up on him and she guided us on this journey. She never treated him like a terminally ill child. She helped us build the rest of our team and ensured Braxton received the medical care he deserved. I’ll never forget how with one phone call a Genetics appointment scheduled in November was moved up to August to start us on our diagnostic journey. When the switch finally flipped for Braxton and again when we got our diagnosis and learned Braxton was definitely not terminal, she continued to make sure we were on target developmentally and set goals to get Braxton to reach higher and higher.  At that first visit she told me it would be her partner, Gil, coming to work with Braxton.

Braxton working with Gil on our playset

Braxton working with Gil on our playset

When Gil arrived,  I was hesitant because apparently I had seen too much Oprah and I’ll admit I was worried about having a male in my house when my significant other was away. But, that was pretty foolish. Gil is a Physical Therapy Assistant, but let me tell you, he has been an invaluable member of our team. “Assistant” is so misleading. With the years of experience he’s had, there is no one else I would have wanted on our team. He was so gentle and patient with Braxton. And in his spare time he likes to dress up as a Superhero – who doesn’t want a superhero on their team!? We made S-L-O-W progress at first, but Gil always pushed Braxton forward. I have a 5 minute video of Braxton TRYING to roll over. And video of Braxton up on his hands and knees rocking back and forth TRYING to crawl. Five years later and Braxton is knocking Gil over as he rears up and smacks him in the chest wrestling with him. He is walking independently, climbing stairs – well, climbing everything really! The progress he has made is truly amazing.

Braxton with Gil and Mary Elizabeth

Braxton with Gil and Mary Elizabeth

Aileen Feeding Braxton for the first time

Aileen Feeding Braxton for the first time

Shortly after Physical Therapy started, we still did not have a Speech therapist on board and Braxton needed help with feeding. I had no idea that Speech therapists could work on more than speech! Mary Elizabeth came to our rescue and called in a friend and colleague. Lesli didn’t have any openings at first and I remember that she came out on a Saturday to do Braxton’s evaluation. Within a few weeks, she had a space open up for Braxton (or she made one!) and we began working on bottle feeds. With her help, Aileen got to live out her big sister goal of helping to feed her brother. Bottle feeding did not last long as we learned Braxton was still aspirating (swallowing liquid in to his lungs), but we slowly worked back up to it, until Braxton just decided he didn’t want a bottle anymore. When we introduced baby foods, Braxton’s progress was miniscule. We celebrated BITES and when he ate HALF AN OUNCE. Now, Braxton eats 16-20 OUNCES EVERY MEAL!  You would never guess he was a kiddo with such great feeding difficulties. We had a few regressions in there, but Lesli never gave up. She never let us give up. We continued to press forward and here we are with a hungry little man on our hands. We did also work on Speech and although we never really got any words from Braxton, we started on the road  with Alternative and Augmentative Communication (AAC). Braxton is now using an iPad with Speak for Yourself to communicate with us. He is still not using it as much as we’d like, but he’s made really great progress.

The last to join our team, was Elizabeth, our Occupational Therapist. OT is apparently really difficult to find! Thankfully, OT and PT look very similar in the early months, so we weren’t in too much of a rush initially. Elizabeth has always been super patient with Braxton. Fine motor skills are definitely one of Braxton’s biggest struggles and his progress has been very, very, slow. (It took 3 years to get him clapping!) But, Elizabeth never seemed discouraged or frustrated. She worked with Braxton at his pace, always pushing him a bit further out of his comfort zone. And she has always spoken to Braxton as if he understands everything she is saying and expecting more from him, because we knew he was capable of more! Braxton has made a lot of really good progress with his fine motor skills and we know he is ABLE to do so much, but whether he actually WANTS to or will perform is a different story. We know he can build block towers, but he prefers to pretend he’s going to put the block on top and then throws it at the last second in protest. He has certainly kept Elizabeth on her toes and she developed some super quick reflexes!

Braxton working with Elizabeth and Lesli.

Braxton working with Elizabeth and Lesli.

After having worked with this incredible team for the last five years, this week has been pretty difficult for us as it has all come to an end.  Braxton is starting Kindergarten next week and unfortunately, our team can no longer see him as our schedules just don’t match. When we moved outside of their service area, they all moved with us to stay with Braxton. So, I know if there were any way to work it out, they would. But, sadly we weren’t able to make it work and we have had to say goodbye to everyone this week.

As I prepared myself to let them all go, I thought back to the days when we all started together. How worried we were. How clueless we were. Over the years, they became part of our family and were no longer strangers. I’ve learned about their families, met their children, commiserated together over school woes, cried together, and laughed together. They’ve watched my little man grow from this small baby who didn’t even fill up a couch cushion to this wild child climbing on tables and chairs, running away to hide from therapy. Every week, twice a week, for an hour each visit they’ve been in our home. It might not seem like much, but it adds up quickly and as the years pass so much life has been lived.

I am forever grateful to this team of people who helped us with our son. Taught us the things we needed to do to help him succeed. They helped to empower me and showed me how to be an advocate for my son. As we move forward to this next chapter, I look forward to the progress Braxton will make with our new therapists thanks to the strong foundation we have built with this one-of-a-kind team.  Thank you all, each and every one of you for all that you have done for Braxton and our family. I hope the small tokens we gave you will remind you of Braxton and remind you on the hard days that someone is grateful for you and you are making a difference. ❤

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World RTS Day 2016: Beyond the Medical Facts

world-rts-dayToday is World Rubinstein-Taybi Syndrome Day! World RTS Day is recognized each year on July 3rd. For the past several years, I have shared our story and various medical facts about RTS to raise awareness of this rare condition. (You can read those posts here and here.) While the medical facts are extremely important to know and understand, I have also realized that sharing our life experiences is equally important. Sharing medical facts is important because you never know who you might reach. Perhaps, there is a family out there like us, living in the dark, not knowing what is going on with their child, with a team of doctors baffled and scratching their heads – that family can use the medical facts to finally find answers for their child. That family might not have to wait 2 years for a diagnosis like we did. On the other side, we have to go beyond just the medical facts. We must share our life experiences so that people know what life is really like for individuals with Rubinstein-Taybi Syndrome – it isn’t always as it is portrayed in the research.

So, this year I want to go beyond the Medical Facts. If you’ve followed our blog and Facebook page, you have a great insight into our lives and our journey with Rubinstein-Taybi Syndrome. For those who are new to our journey or parents learning their child’s diagnosis for the first time, here are just a few things I want you to know about RTS this year.

Rubinstein-Taybi Syndrome is not terminal, but it is lifelong. Because of the diagnosis, there are challenges our children will face their entire lives with communication, gross motor skills, dexterity, endurance, living independently, and much more. But, this is not something to be pitied. Our children are resilient. They learn to experience their world in ways we might not have ever imagined. It might take them longer to get there, but they do attain skills like walking, running, jumping, climbing, and much more.

Our children are capable of so much! When I first learned about our diagnosis, words like cancer, developmental delay, musculoskeletal issues jumped off the screen. I immediately began thinking of all the things Braxton would never get to do. He’d never throw a baseball with his dad, never ride a bike, never play on a playground. But, when I joined a Facebook group for families of children with RTS, I found hope. There were families who had children playing baseball, swimming, running, and Special Olympic athletes. I realized that despite what the research said, Braxton had endless opportunities. And, look at him now…. Braxton played Baseball with Miracle League this year, he’s learning to ride his AmTryke tricycle, he loves being in the water, and he enjoys swinging with his sister.

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Our children exude love and happiness. No, not every day is sunshine and rainbows, but most of the time our sweet kiddos have a smile on their face. Don’t get me wrong though, Braxton has a temper like no other! I’m willing to overlook that some days when he flashes that big smile and wraps his arms around me for a big bear hug. 😉 Braxton knows no strangers. He sees the good in all of us and loves unconditionally. The smile is the one almost universal characteristic trait of Rubinstein-Taybi Syndrome.

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The medical challenges are tough and often difficult to handle, especially in the first couple of years. Although we did not have a diagnosis, Braxton’s first two years were incredibly difficult for us. On top of not knowing what was going on with him, we saw over a dozen specialists, he had several surgeries and medical procedures, he was hospitalized once for pneumonia, and he was sick constantly with colds, sinus infections, and ear infections. However, despite these challenges, it DOES GET BETTER! Braxton has been medically stable for the last 3 years. He is making great progress, achieving therapy goals, and staying healthy. We still have all of our specialists, but our visits are down to annual visits and some doctors have simply said, “He looks great, call us if you need us!” I know how difficult those early years are, but hang in there, there is a light at the end of the tunnel.

The fear and the worry never go away, but they do get quieter. I was terrified in the early days and again after getting our diagnosis and reading the medical research on RTS. But, now 3 years after our diagnosis, the fear and the worry no longer consume my life. They are always there in the back of my mind and with every cough, every sniffle, every fall, I wonder if this is going to be the event that turns our world upside down all over again.  I hold my breath for a moment and then I remember to breathe. I can tell you not to worry, not to be scared, but who am I kidding, it’s our parental instinct to worry and be scared for our babies. So, instead I’ll tell you that it’s okay to be worried and be scared, but don’t let it keep you and your baby from living life. Take chances, take risks, hold your breath, but don’t forget to breathe.

Rubinstein-Taybi Syndrome is a diagnosis that is a large part of our child’s life and shapes the experiences and the way our children interact with the world around them. It has it’s challenges, it’s highs and lows, but doesn’t prevent us from living life. I want you to know about the medical facts, how rare it is, and how it effects us, but I also want you to know that our children have the same life experiences as other children. They may require some accommodation and do things a little bit differently, but they love big, play sports, dream, and learn just the same. Learn what makes our babies different, but also learn what makes us the same. Then, we not only have awareness, but we also have inclusion, acceptance, tolerance.

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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.

 

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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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