Happy Tubie-versary!

Today marks 3 years since Braxton’s very first surgery, which was to place his G-tube.  Braxton was just 2 weeks old and still in NICU when it was placed.  You can read all about the Day Braxton Became a Super Tubie from last year’s post.

We have come a very long way in 3 years.  I still remember everything about the day we were told he would need a tube and the day of surgery. When his button was first placed, we honestly had no idea how long Braxton would need his tube and the doctors could not provide anything other telling us he would need to have it “long-term.” We have had many struggles with eating over the past few years and we are very grateful that Braxton has had his tube all this time.  His tube has allowed us to feed him even when he is sick, give him medicine when needed, and make sure he gets the nutrition he needs to gain weight in a healthy manner.

Braxton climbing in to his chair getting ready to eat!

Braxton climbing in to his chair getting ready to eat!

Braxton is finally eating by mouth, something we weren’t sure if he’d ever really be able to do.  He is eating about 30-40 ounces of pureed foods every day! He gets about 1100-1300 calories per day and we supplement with a multi-vitamin to make sure he is getting everything he needs nutrition wise.  We haven’t had to use his tube for food in quite some time, which is a magnificent feat! Braxton even tells us when he is hungry now, which is HUGE for a tube-fed child! Because children with feeding tubes are usually kept on such a strict schedule, they do not know or understand what it means to be hungry.  Braxton still does not speak, but he will “tell us” he is hungry by going over to his feeding chair, climbing in, and he will sit there until we notice him. If it’s not quite fast enough for him he will start to whine/cry to let us know “hey! I’m really hungry over here!” He’s eating every 2-3 hours right now and his schedule was every 4 hours before, so he is really understanding what food is and what it means to be hungry. He truly enjoys eating now, and that is fantastic!

We still use Braxton’s tube for fluids because he isn’t quite drinking anything by mouth yet.  We have been working on straw drinking in therapy and he has drank up to an ounce! We’re working on different flavors and increasing that volume.

So, we truly know now that Braxton will not need his tube forever, but it’s still not going to be taken out soon.  We want Braxton to be fully drinking on his own and eating “table food” before we remove his tube.  We are making significant strides in the right direction.

Braxton, Super Tubie!

Braxton, Super Tubie!

The other day, I saw a post on the Feeding Tube Awareness Foundation’s website about an interview with siblings of children who are tube-fed and found their perspective very interesting! Since special needs and things like tube-feeding really effect the whole family, the FTA group brought in this sibling perspective.  This inspired me to talk to Aileen about her brother’s tube and see what she knew and what she thought about his g-tube.  I recorded the conversation and thought it would be great to share in honor of his tubie-versary!

Enjoy!

 

 

 

 

 

 

1 Comment

Filed under Family, Kids and Family, Life, Special Needs Child

Braxton Turned Three!

Braxton just had his third birthday! We are so thrilled with the progress Braxton has been making and cannot wait to see what the future brings.  We are getting ready to embark on the next journey with Braxton as he starts school in the fall, and took time to celebrate this milestone with family.

Some milestones for Braxton this year:

  • Braxton is officially cruising along walls, furniture, and anything that can hold him up!
  • He still likes to “walk” on his knees, but he’s doing more cruising than crawling which is exciting.
  • He took his first independent steps in therapy in November of 2013, and will take a few steps now, but mostly he walks with one hand being held.
  • If we try to hold both of Braxton’s hands, he decides his legs are spaghetti and refuses to walk! Little joker, that kid!
  • Braxton is FINALLY eating by mouth as of January 2014 and is officially over his severe oral aversion.  He eats up to 40 ounces of pureed foods a day.  We are still working on solid table food, but as of now he’s not a fan.
  • He is also working on straw drinking and has so far only taken a few sips, but he’s getting better!
  • He still has not learned any sign language or shown any interest, but we are continuing to learn and model for him just in case he decides to catch on and begin using signs.
  • We have been working with an iPad to communicate with Braxton and letting him make his own choices.  We use an app called Sounding Board and use 4 pictures of objects Braxton knows.  (Or 4 activities he can choose from). Braxton effectively scans the board and makes a selection indicating his preference.  He understands the purpose of the iPad and will reach out for it again when he’s made the wrong selection or is done with the current activity.
  • Braxton’s receptive language has grown by leaps and bounds! He understand so much more now.  Some words/phrases he knows are “It’s time to eat” – he whips his head around so fast and gets right over to his chair to eat.  “Let’s go bye-bye” – he will stop his activity and go to the door when it’s time to leave.  “come here” – About 70% of the time when we call his name or ask him to come to us, he will.
  • Peek-a-Boo is hands down his favorite game.  We ask “Where’s Braxton?” and he covers his eyes with his hands and waits a minute before uncovering them.  When he uncovers his eyes we say “Peek-a-boo” and he has THE biggest smile across his little face.
  • We are down to annual appointments with all of his specialists, which is great! At this point, Braxton is “medically stable” and we are just monitoring a few things to make sure there is no cause for concern later.
  • Braxton is still receiving Physical Therapy, Speech Therapy and Occupational Therapy twice a week.  Our therapists will continue to work with him once he starts school as the school therapies are not enough to ensure his success.
  • It seems like there is something new every week here lately, so be sure to keep up with us on Facebook so you don’t miss out!

 

This year,Braxton’s birthday party was superhero themed! We asked all of our friends to come to his party wearing their favorite superhero costume or t-shirt. At the party, we had felt capes and foam masks so that everyone could decorate their own! I also made a large city scape background for photos and just as a decoration.  Braxton did get a little overwhelmed again this year, but he participated a little more in activities and enjoyed his special day.  Here are some fun photos from his birthday party!

Leave a comment

Filed under Family, Kids and Family, Special Needs Child

Why Braxton’s Dad Rocks

Day in and day out, Joseph proves to be an awesome father to Braxton and his sister.  He doesn’t always get the credit he deserves, but we are so grateful and appreciate everything he does for us!

So, In honor of Father’s Day, here are just a few of the countless reasons why Braxton’s Dad rocks!

1. Braxton’s smile is never bigger than when he is with his Daddy.

Braxton with Dad

2. Dad isn’t afraid to get down and let Braxton “wrestle” him to the ground.

3. Bath time is always more fun with Dad.

Bath Time

4. Dad sings all kinds of silly songs to Braxton all day long.

5. Dad makes super cool airplane noises when feeding Braxton.

6. The love of music is deep inside both of them.

Music with Dad

 

7. Dad takes Braxton to school when he is home, so that mom can sleep a little bit extra.

8. Walking with Dad is the best.

10330316_619342341485066_7450310848703037349_n

9. Dad will do anything (no matter how silly he looks) just to make Braxton laugh.

10. Dad always finds the coolest toys!

IMG_2217

11. Dad, without fail, makes sure Braxton gets plenty of fluids via g-tube.

12. Dad pushes Braxton around in his toy cars over and over because Braxton loves it.

13. Dad is a diaper changing ninja!

14. Dad is always full of fun, love, and laughter!

15. There is no love greater than the love Joseph has for Braxton.

1003930_10201924431855336_1519860664_n

 

There are many, many other reasons why Braxton’s dad is amazing, but I don’t think we have enough space to host them all here on WordPress.  ;)

Happy Fathers Day to all of the amazing fathers out there!

1 Comment

Filed under Family, Kids and Family, Life, Special Needs Child

Beginning Our Special Education Journey

Braxton has been enrolled in Early Childhood Intervention (ECI) services since he was discharged from NICU.  ECI has helped us to coordinate therapy and necessary interventions for Braxton.  Unfortunately, ECI only works with children until the age of 3.  Once a child turns 3, their local school district takes over and serves children through their Preschool Program for Children with Disabilities (PPCD) program.  I had no idea a 3 year old could be enrolled in public school!

As you can imagine, this new chapter in our journey has left us with a lot of learning to do and many questions.  For the first time in a couple years, I don’t know what to expect.  It’s actually a little frightening.  But, as usual, we are learning and adapting and Braxton is showing us the way. The transition in to school is different for every person, for every district, for every school. Here is just a little bit about our journey so far.

Transition Meeting

Braxton and Dad at our Transition Meeting

Braxton and Dad at our Transition Meeting

Back in March with met with the Special Education coordinator for our district and our ECI case manager for our “Transition Meeting.”  The Transition meeting is usually scheduled about 3-4 months before your child’s 3rd birthday.  At this meeting, we were able to discuss the process of transitioning from ECI into the PPCD system.  The coordinator explained the processes for the district and explained all of the different Special Education programs our district offers.  There are programs for children who only need a help with Speech, programs for Deaf/Hard of hearing children, programs for children with multiple disabilities, and a few others.  She wasn’t able to really tell us what placement Braxton would have until he had his initial evaluation. We were able to ask questions about the process and find out a little bit more about our next steps.  A lot of our questions could not fully be answered until after Braxton’s evaluations. The transition meeting was only to describe the process. They also sent me home with packets to fill out about Braxton’s skills and needs to bring to our parent interview.

 

Parent Interview & Child Observation

At the end of April, we went back to the Special Education Office in our District for Braxton’s evaluations.  Evaluations must take place within 30-days of the transition meeting.  The evaluation can look different for everyone, but it is usually a series of play based assessments and parent interviews.  Evaluators will “test” your child by playing with them and engaging them in activities to see where their skills are in each area. They will also speak with parents to get a better understanding of the child’s skills and needs.  For our evaluation, the team asked me to be the play facilitator.

Our team included the Special Education Coordinator, Licensed School Psychologist, Physical Therapist, Occupational Therapist, Speech Therapist, Assistive Technology Specialist, Auditory Impairment Specialist, Visual Impairment Specialist, and Orientation & Mobility Specialist.   I played with Braxton while each member of our team watched and took notes about how Braxton played, what skills he had, how he interacted with me, how he reacted to the new environment and new toys.

For us, the entire session was videotaped so the evaluators could go back and watch for things they might have missed.  As Braxton and I played, the team asked questions about Braxton’s medical history, current therapy programs and goals, and upcoming medical visits.  They asked to show them certain tasks to see if Braxton could complete them.  Things like manipulating a pop-up toy; pushing a button, flipping a switch, turning a knob, sliding a button to make a toy pop up and pushing it down to do it all over again.  These tasks show Braxton’s fine motor skills and are important in an educational setting.  We did things to show Braxton’s gross motor skills by having him crawl and walk and move around the room.  I set up Braxton’s iPad to show them how he is able to use it to make choices.  Braxton, much like any child being asked to do things, decided not to cooperate for some tasks. For instance, he refused to show them he could walk on his own.  He didn’t even want to walk holding our hand.  Thankfully, I had videos on my phone of him doing these things and was able to show them to the evaluators.  For children who do not do well in unfamiliar environments (and those who are stubborn 2-yr olds!), video evidence is excellent in helping the team see all of the things your child can do.  It helps with the planning and setting of goals.  The team then convened to meet and discuss their preliminary thoughts about placement, support, and additional information they needed privately.  They came back to discuss some of their observations, concerns and additional questions.  A few of the evaluators requested that we come back for a secondary evaluation so that they could test a few specific things they did not see in our play based assessment.    I was also given a few assessments to take home that delved further in to Braxton’s social and emotional state for evaluation.

Secondary Evaluations

The Visual Impairment Specialist, Orientation & Mobility Specialist, and Occupational Therapist each asked for us to return for a secondary evaluation.  Two weeks later, we returned at their request.  The Vision Teacher wanted to see more of Braxton’s visual tracking abilities and what his functional vision looked like.  Sitting in a classroom, Braxton would need visual support due to his eye abnormality and the Vision Specialist wanted to get a better idea of exactly what he would need.  The O&M specialist wanted to see if there were any concerns about moving in different environments and safety issues due to his vision impairment.  Sometimes kids with visual impairments have O&M issues such as stopping when tile meets carpet thinking the two surfaces are uneven, phantom steps when climbing stairs, and difficulty stabilizing gait on uneven surfaces (such as rock playground, backyard, etc). The Occupational Therapist wanted to see more of Braxton’s fine motor skills like his ability to turn pages in a book, use of a pincer grasp, use of selective pointing, and other skills we have been working on.  This evaluation was much shorter and everyone got what they needed.

Admission, Review and Dismissal (ARD) Meeting

So, the rest of the country calls this an Individualized Education Program (IEP) Meeting, but Texas calls it an Admission, Review and Dismissal (ARD) Meeting.  They do this because at this meeting, you are either admitting a student, reviewing a service plan, or dismissing a student from services.  The ARD must be scheduled before the child’s 3rd birthday. Since Braxton’s birthday is in the summer, his entire process had to start a little bit early so that it would all be completed before the end of the school year.  For students with birthdays in the middle of the year, they can actually start the day after their 3rd birthday, so right in the middle of the school year!

For Braxton’s ARD, only part of the evaluation team was present.  We had the Licensed School Psychologist/Early Childhood Specialist, Speech Therapist, Vision Impairment Specialist, Auditory Impairment Specialist, Orientation & Mobility Specialist, and our ECI coordinator.  ECI is usually present to make sure the transition is completed and so they can close out the file with ECI.  Each team member presented the results of their evaluations and gave their recommendations. I had a chance to ask questions about the reports and the recommendations being made. We discussed the therapies being recommended, how they would be implemented and the frequency with which they would be offered.  We also discussed Braxton’s official placement in a class and school.  Finally, we went over the goals each team member had in mind.

Overall, the meeting went well.  I had a few questions about the report which was provided to me the day before the meeting.  Last night, I went through the report with a highlighter and wrote down several questions about the recommendations, goals, and my concerns.  The team listened carefully to my concerns and answered all of my questions.  Initially, they recommended that Braxton be in the morning session, but I requested Braxton be in the afternoon class so that we could have his private therapies in the morning before school.  Afternoon spots are always a little bit harder to come by, so I wanted to accommodate their schedule as well.  I’m glad everyone was receptive to my questions and was pleased with the outcomes.

Recommendations/Placement/Plan

So, what did we decide and how did it all turn out? Well, we are going to enroll Braxton in school for the 2014-2015 school year.  I am sad to pull him out of his daycare, but I think this can be a successful program for him.

The ARD Committee recommended their PALS class that is offered at the same school Braxton’s sister attends.  The PALS class is intended for students who need help with pre-school academics, language, and social skills.  For our school district, this class is only 3 hours each day and Braxton will attend in the afternoon from 11 am to 2pm.

Braxton was recommended for all therapies offered in school.  He will have school based Physical Therapy and Occupational Therapy.  School therapy differs from private therapy in that the goal of school therapy is to help the child be successful and promote learning.  The school PT and OT will come in and work with the class as a group and help the teacher with seating, placement, equipment and incorporating goals in to the class curriculum.  They will only be working with Braxton 60 -75 minutes per 9-weeks.  I was told these are minimums and that the school therapists typically spent much more time than this in the classroom.  The school PT goal was that Braxton would be walking with an assistive device 75% on his own by this time next year.  This is the only goal that I disagreed with.  Unfortunately, the PT was not there, but my concern was put in writing and we will reconvene to address it.  I told the team that by this time next year, I wanted Braxton walking completely on his own.  The PT had recommended an assistive device for long distances such as walking to the lunch room, library, outside, etc, and while I can understand the need, I don’t want to encourage the use of a walker when Braxton is so close to walking independently.

Braxton also qualified for Speech on a more intensive basis. Speech will provided at 60 minutes each week, so he will have speech support almost daily.  His speech therapist will also work with the Assistive Technology specialist to implement a communication device system at school.  They are aware of what we have been using at home and so far have been supportive of continuing to use that system.

He will continue with Vision and Hearing therapy on a consult basis only.  This means the AI and VI teachers will come in to the class to ensure the teacher has the tools she needs to help Braxton learn in class.  The VI teacher recommended that Braxton use a visual schedule, picture cards, and use of a black background to help with visually complex items.  I also asked about the use of an FM system with Braxton’s hearing aids.  An FM system allows a receiver to be attached to Braxton’s hearing aids and the teacher would wear a microphone.  This would make it as though the teacher is speaking directly to Braxton and he would hear her the same way we hear music in headphones.  This is typically used in later grades, but I think it would be helpful for Braxton because he does get easily distracted and needs voices to be in short range to pay attention to them.  The team said they would trial an FM system, but wanted to see how he performed without one first.

The whole team agreed that “Total Communication” is best for Braxton.  Total Communication is the use of many different methods of communication to work with Braxton.  So, we will be using sign language, picture cards, AAC, voice, and gestures. This will help promote language and encourages the use of many systems so Braxton can decide which is best for him to communicate with his teachers.

It has been a long, arduous process, but I am, so far, pleased with the outcome and look forward to the fall session. We will be meeting again before school starts because we are waiting on a couple physician reports from our summer follow-ups and will need to take those reports in to consideration before school starts.  And to think, this is only the BEGINNING of our Special Education Journey.

Leave a comment

Filed under Family, Kids and Family, Life, Special Needs Child

Braxton’s Story featured on KVUE

We visited with KVUE to discuss Braxton’s diagnostic journey and the upcoming documentary.

Leave a comment

Filed under Family

We Should Have Known Sooner

SearchingEvery year, when Braxton’s birthday rolls around, I am full of emotions as I look back on our journey and see how far we’ve come.  This year, that is paired with all of our annual appointments with doctors we haven’t seen in 6 months to a year.  Some still didn’t know Braxton had finally received a diagnosis.

 

 

Doctor: “Did you all ever receive any additional information about a possible diagnosis?”

Me: “Oh, yes we did.  Braxton has Rubinstein-Taybi Syndrome.” 

Doctor: “Oh yea? I have a few patients with that.”

Me: “Umm..that you see currently?”

Doctor: “Absolutely.”

That has been the conversation at more appointments recently than I even want to tell you.  The doctor then proceeds to tell me about all of the things kids with RTS are at risk for from their specialty standpoint.  Outwardly, I am thankful they have heard of RTS and know what to expect.  Inwardly, I’m  furious and screaming.  You knew about RTS? You KNEW this whole time? The WHOLE TIME?! Why on Earth wouldn’t you have said anything before? Did you ever even look at my child!? Just a series of completely flabbergasted questions.

Almost ALL of our specialists very nonchalantly have said they are familiar with RTS and spout off all of these things about other patients.  Our anesthesiologist at Braxton’s tonsillectomy guessed RTS just from looking at the symptoms on Braxton’s chart.  Huh? So why did it take us 2 years to find out!?

I wish I knew why it took so long.  I guess, we know Braxton doesn’t fit “in the box” exactly, but is it really necessary for a child to check off every symptom before a doctor comes to a diagnosis? There was always enough information to make the diagnosis, but it was overlooked.  Even when it was brought directly to their attention, the doctor said “Welllll….he doesn’t really fit because x, y, and z” So because Braxton did not check off a few specific symptoms, we were left in the dark.

Yes, I am thankful and relieved to finally have an answer NOW, but do you know how nice it would have been to know earlier? It would have saved so much fear and heartache.  Sleepless nights where I sat up and watched Braxton sleep, just hoping that he wouldn’t stop breathing or be taken away from us as the doctor’s predicted.  Tireless hours of researching and contacting other parents.  Appointment after appointment where doctors just scratched their head and said come back in 6 months, we’ll see what’s developed.  The NICU doctor didn’t give my kid a month to live and you want me to wait six? What if we don’t have that long?

Braxton looks just like so many other kids with RTS, why didn’t anyone notice it before? Especially when they are currently seeing patients with the same diagnosis.  All RTS kiddos look like they could be related.  Sure, you see some of their parents in them, but their resemblance to one another is striking.

To me, there is no reason why another doctor could not have even hinted at this diagnosis. They spout off statistics and potential problems on a whim, so it’s not like RTS is so rare and unknown to them that they could not have suspected it enough to tell me.  This is the part that is so frustrating to me about our medical system.  Don’t get me wrong, I really love all of our doctors and they have done so much for us, but they’ve also let us down.  When yet another doctor tells me about the MULTIPLE patients they see, I can’t help but be frustrated and upset.

I think that is another reason why I have been so passionate about this Undiagnosed documentary.  Knowing that there are other patients out there like us, who end up being diagnosed with something that is uncommon, but something that there is enough information available for that shouldn’t require such a prolonged diagnostic journey (be it 2 years or 7).  With more awareness and a greater understanding of what life is like, the fears we face, and the struggles we have, maybe the medical community would move toward better networking and the development of an Undiagnosed Disease Registry.  These are things that could save a child’s life and spare a parent the fear of the uncertainty the future might hold, yet they don’t exist.

I am so hopeful for this film and hope that it comes to fruition. And while I don’t think our journey should have taken so long, I’m thankful for the road we have walked because now I can help others and be a voice for them.  Perhaps, like everything in our life, our journey was prolonged for a purpose. I hope that I am fulfilling that purpose through sharing our story and being an advocate for my son and the countless families who have walked this path before me and those who will follow.

 

 

 

1 Comment

Filed under Family, Kids and Family, Life, Special Needs Child

Braxton’s Birthday Project

Can you believe Braxton is going to be 3 years old already?! Time has flown by and our little man has certainly come a long way!

Every year, we have some very nice people who contact us via our blog or Facebook to ask for an address to send cards or gifts to Braxton on his Birthday or for Holidays.  While we are very appreciative of such kindness, this year, we’d rather you do something a little different to honor Braxton on his birthday.  Without further ado, here is this year’s project for Braxton’s 3rd Birthday, which is on June 24th!

Braxton's Birthday Mission

 

Braxton’s birthday theme this year is Superheroes and with that in mind, you have all just been given a Top Secret Mission.  Only, it’s not so secret! We encourage you to share this far and wide to spread some kindness and tap in to your own super powers.

This year, if you are not local, instead of sending Braxton a card or gift, we are asking that you make a donation in his honor to one of the organizations who has touched our life deeply. Any amount is appreciated! Even $5 can go a long way.  If everyone gives a little, it adds up to a lot that these organizations can do for their community.  These are the organizations we’ve chosen:

U.R. Our Hope

U.R. Our Hope – U.R. Our Hope is a registered 501 (c)(3) non-profit based in Austin, TX that assists families on the journey to finding a diagnosis or helps them navigate the healthcare system with a rare diagnosis.  They provide meals for families during hospitalizations, help facilitate research and medical referrals, provide gift cards to families traveling for medical appointments, and are hoping to raise money to gift Whole Exome Sequencing to families still searching for a diagnosis.  U.R. Our Hope was instrumental in not only helping us find a diagnosis, but helping us connect with other families.  That face-to-face support was exactly what I needed to cope and empowered me to be the mom you all admire now.  I was very scared and alone at the beginning of this journey, but with the help of U.R. Our Hope I found my footing and have now helped others walk the path as well. I’ve also been honored to be a member of the board of directors for the past year. Although we have now found a diagnosis, we are forever indebted to U.R. Our Hope and hope you will consider supporting them as they have helped us.

Undiagnosed Documentary

Undiagnosed: Medical Refugees – This is the documentary we were honored to be a part of this year.  We were able to share our diagnostic journey with the team to help others understand why finding a diagnosis is so important.  Countless families are struggling to find a diagnosis and sadly, some have lost their children without ever knowing the reason.  Our journey was MUCH shorter than average and I’m so grateful for the help we’ve had along the way.  This documentary would be so revolutionary and change the way medicine is practiced today.  A donation to the film would go toward helping them complete the project so that the world can learn what we have experienced firsthand.

Special Friends Foundation

Special Friends Foundation – Special Friends is also a registered 501 (c)(3) organization who serves families with Rubinstein-Taybi Syndrome, which is Braxton’s diagnosis.  Special Friends provides financial assistance with medical bills, uncovered medical expenses, special therapies, augmentative communication and so much more.  A donation to them would help the fellow members of our RTS family.

Tinysuperheroes

Tinysuperheroes – This extraordinary organization provides capes for children fighting big battles. Capes are sent to children battling life threatening illnesses, lifelong disabilities, and other chronic medical conditions.  Parents of children with special needs already see their children as superheroes and a cape shows the rest of the world just how strong our kids are.  Braxton received his cape last year and has seen him through surgeries and doctors appointments.  You can empower a Tinysuperhero for just $35! There are so many waiting to receive their cape.

Sammy’s House Austin

Sammy’s House Austin – Last, but certainly not least, is Braxton’s amazing daycare.  Sammy’s House is also a registered 501 (c)(3) non-profit organization.  They provide childcare services for children who are medically complex.  When our daycare closed last August, I could not find a provider who would take Braxton and that I trusted with his medical care.  Sammy’s was a godsend.  Their director lost a child to Down Syndrome many years ago and he was the inspiration behind Sammy’s House.  She, too, could not find a provider she could trust or who had enough experience to work with her medically complex child, so she started a center all on her own.  Sammy’s operates entirely off of donations and serves children with a variety of disabilities.  When Braxton started last August he was crawling and pulling up to stand, but had minimal cruising and no desire to walk.  In 9 months, Braxton has made tremendous progress! He is walking with minimal assistance, cruising longer distances, eating by mouth, understanding language a lot more, and just overall growing every day.  The staff is constantly pushing the kids to unlock their full potential and have done wonders for Braxton.  A donation to this organization ensures that other kids can reach their potential as Braxton has and continues to do.

 

 

We appreciate all of you for loving and supporting Braxton along this journey.  While we love the cards and gifts, Braxton already has so much and we would love to spread the generosity.  These organizations have all touched our life in one way or another and it would mean the world to us if you could spare a few dollars to one, two or all of them! I don’t need proof of your kindness, but when you donate to any of the organizations, please make sure to leave a note that your donation is in honor of Braxton so that they know who sent you.

We hope you will join in this mission and open your hearts!

Leave a comment

Filed under Kids and Family, Life, Special Needs Child

Undiagnosed: Medical Refugees Launches Kickstarter

Several months ago, I had the honor of sharing Braxton’s diagnostic journey with a crew who is currently filming a documentary about Undiagnosed patients across the country.

Braxton’s story is featured to speak about the importance of finding a diagnosis, how a diagnosis can give hope and direction for medical care.  Without a diagnosis, families are left in the dark with no way to plan for the future.  The not knowing is the worst part of the journey.  This documentary aims to bring light to this important population and revolutionize the healthcare industry.

The Kickstarter project for this film kicked off today.  Watch the trailer and please read the letter below and consider donating to help complete this film.  Share this with everyone you know.  The more money we help raise, the faster the documentary can be completed! Thank you for your continued love and support of Braxton.

 

——————————————————

Dear Friends,

Our Kickstarter crowd funding campaign to raise $150,000 to complete Undiagnosed: Medical Refugees, a groundbreaking documentary film, has now officially begun!

For those of you who haven’t yet heard about this remarkable feature film, Undiagnosed is the untold story of the millions of people just like you whose lives have been devastated due to unknown or unsolved illnesses. What understanding more about the predicament of children and adults in this difficult situation could offer to the future of medicine is astounding, yet this population remains virtually ignored. The creators of this film are dedicated to starting a movement to benefit individuals with undiagnosed illness, as well as the healthcare system they must depend on for assistance.

The success of this campaign  completely depends upon public support, so please donate what you can (BTW there are some great “rewards” your donations) and most importantly, forward this email to as many people as possible- family, friends, co-workers, and any networks in which you participate. Please bear in mind that we must raise every dollar of the $150,000, or else we receive absolutely nothing!

Our team has been shooting this movie for over a year – without pay, and funding everything out-of-pocket. We are now 80% finished with production and need your help to raise the funds necessary to bring the film’s vision to fruition.

You can see the powerful movie trailer and campaign video, as well as follow this documentary’s progress and success on the Kickstarter campaign page:

https://www.kickstarter.com/projects/792434652/undiagnosed-medical-refugees-a-groundbreaking-docu

From the bottom of our hearts, thank you for your generosity in supporting this great cause!!

 

Sincerely,

Crystal Shearman
“UNDIAGNOSED” I PRODUCER UNDIAGNOSED FILMS, LLC

Leave a comment

Filed under Kids and Family, Life, Special Needs Child

One Year After the Diagnosis

It’s hard to believe that it has been exactly one year since we finally learned Braxton’s diagnosis.

I went back and read my entries leading up to the day we received our results and even a few weeks after, and I recognize that there has been so much personal growth.  I am in a very different place now and continue to grow with every passing day.

Before we received our diagnosis, life was full of questions, uncertainty, fear, confusion, frustration, and a host of many other unpleasant feelings.  It was so difficult to have to go to the doctor and tell them that I had no idea what was going on with my son.  Braxton’s care was entirely symptomatic.  As new things came up, we treated that specific issue, but had no idea how it fit in to “the big picture.”  It was as if we were grasping at straws just hoping that something would work.

Outwardly, we presented our best face and tried to remain positive, but the battle within was constant.  There were so many sleepless nights and nights full of tears simply because I felt as though I’d failed as a parent and felt that the medical community had failed us.  I was always grateful for our team of doctors, but always, always felt like more could have been done, like more should have been done.  But, alas, “coulda, shoulda, woulda” changes nothing.

Life after the diagnosis has been a dramatic difference.  Sitting in the doctor’s office one year ago, I remember my uneasy breathing and grasping the chair beneath me until my knuckles were white, until the doctor walked in.  When she finally delivered the news, I remember exhaling, a weight being lifted, and even smiling because I had already known what the doctor just told me.  I will always be grateful to the few people who reached out to us through our blog to suggest Rubinstein-Taybi Syndrome.  Doing my research then, helped me accept the diagnosis in the office that day.  It was familiar, it was not life-threatening, I was at peace.  I was relieved.

BraxtonThe first few weeks of researching and trying to explain things to our family was very difficult.  Our family members learned and dealt with it in their own way.  Some are still coping.  Some still believe that Braxton will magically be “cured” of RTS, although there is nothing to cure.  You can’t change genetics.  Braxton is who Braxton is going to be for the rest of his life.  He is loving. He is full of joy. He is full of spirit. He is full of drive and determination. He is a fighter. He is just like any other 2-yr old daredevil little boy. He may not move as fast, but he is well on his way.  Our family has been supportive every step of the way.  We have all grown and we have all come together.

Every day is a little bit easier.  Life is still full of therapy, but the doctor’s visits are less than before the diagnosis.  Most of the doctors are now seeing Braxton on an annual basis, with the exception of his Cardiologist who still monitors his heart closely.  Now that we have a diagnosis, our care is more focused.  I know some of the issues we will face and how other families have dealt with them, which has helped tremendously.  I can make informed suggestions to our doctors based on real experiences.

Our therapy goals are now geared toward the things we know will present difficulty.  We know Braxton will walk, so we are really pushing that goal and even his daycare is doing everything they can to get Braxton there.  We purchased a medical stroller instead of a wheelchair because we know Braxton will walk soon.   We know that Speech will be our greatest difficulty so we are trying many different methods of communication.  Braxton is still not picking up any sign language, but he has taken to the iPad and successfully demonstrated purposeful choice-making.  We’re now moving forward with a grant to purchase an iPad and augmentative communication program.  We’re still using sign language and picture cards, but we know this is what he is going to need long term, so we are able to provide medical documentation for a grant.  Before the diagnosis it may not have been so easy.

There is a whole other world of possibilities that has opened up for us now that we have some insight in to exactly what is going on with Braxton.  I can make decisions with more confidence and have more options available.  I felt stuck before the diagnosis and just accepted most of what the doctors recommended, because I didn’t want to look back in hindsight and wish I would have done more.

We have a new support group that has been fantastic.  In the first few weeks after the diagnosis, I asked A LOT of questions on the Facebook group and Listserv. Thankfully, so many shared their experiences and put my worries at ease.  A year later, I can now welcome new parents and share our own experiences. I’ve had parents reach out and tell me that my blog helped them come to terms with the diagnosis and to a place of acceptance. We have come full-circle.  There is a sense of family among our diagnosis and at any given time I can reach out for support and answers.  That is, perhaps, one of the most important differences in life before and after the diagnosis.  Before, I could reach out to families who had similar experiences but due to their specific diagnosis, it was handled differently than Braxton would have been.  I was thankful for the support and guidance, but it never really quite fit exactly.  After diagnosis, I see/hear stories and think “Oh my, that is EXACTLY how it happened with Braxton.  Here is what worked for us…” We finally have a “medical home,” a group of people who truly understand, people who have “been there, done that” who can offer advice and words of wisdom. It has truly made such a difference.

Braxton has grown tremendously and is making wonderful progress.  His receptive language is getting better every day and he is finally showing real signs of understanding.  His gross motor skills are taking off as well.  He is cruising like a champ, “knee-walking” all over the place and taking independent steps during therapy.  His is eating almost completely on his own now.  He will eat about 30 ounces a day by mouth and he gets one bottle via g-tube just to supplement calories.  He is even starting to drink now! With most of my worries gone, I can focus on all of the amazing things Braxton is doing and just be in the moment.  And the moments are incredible. Positivity is no longer something we pretend, it just comes naturally.  We are still going to have hard days ahead, but I am better equipped to face them and I know I don’t have to face them alone.

 

 

This anniversary comes just before “Undiagnosed Children’s Day” and I am reminded that there are still so many searching for what we have found.  The average journey to rare diagnosis takes about 7 years.  Yes, SEVEN years.  Our diagnostic journey was significantly shorter than the average but still took quite a toll on us. I can only imagine the families who are in agony and still searching.  To those families, I say please don’t ever give up hope.  Soon the answers you seek will find you.

To everyone else, I say please keep these families in your thoughts and prayers.  Continue to support the organizations who serve the Undiagnosed and Rare community because it is those organizations that helped lift us through the hard times.  I don’t know where we would be were it not for U.R. Our Hope and our Physical Therapist who helped guide our journey.  I’m grateful to them for fighting the fight.  And I’m so proud of the documentary team who is filming “Undiagnosed: Medical Refugees.” I hope this film comes to fruition and the world learns what we have had to face and why answers are so important.  More can be done and more needs to be done for these families.

 

———————————————————————————————————————

Simply click to vote! It's THAT easy. Then feel free to browse some other really great mommy blogs. Thank you!

Simply click to vote! It’s THAT easy. Then feel free to browse some other really great mommy blogs. Thank you!

 

2 Comments

Filed under Kids and Family, Life, Special Needs Child