Tag Archives: relief

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.

 

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Filed under Kids and Family, Life, Special Needs Child

FTA Week, Day 4: We Can All Use a Little Help

FTA Week Flyer

FTA Week Flyer

Today’s topic is “We Can All Use a Little Help: What can friends and family do to be supportive, what do you want them to know?”

The Feeding Tube Awareness site actually has a really great outline for Friends and Family of tubies.  Worth a read! 😉

We have been very fortunate thus far to have such an amazing support system in place.  Our friends and family have been great, so when you guys read this, give yourself a pat on the back! And THANK YOU!

Some pointers for others who have family members or friends with tubes:

You may have to be assertive when you offer help.  – For us, I think it’s safe to say Joseph and I both don’t necessarily like to admit that we need help, and we also don’t want to feel like a burden, so when you ask, we’re probably going to say no.  If you really want to help, just do it.  “Show me how to feed Braxton, you go take a hot shower.” I think there are a lot of people out there like this, so if you really mean it and want to help just do it.  There are lots of things you can do. Actually, Mommies of Miracles put together a handy guide of possible “gifts” and many are just ways to help.  [Please don’t all run out and do them all at once.  Seriously.  We really do feel supported. I just want to put the list out for anyone else who comes across the page, but may not know how to help others]

Ideas on how to help caregivers

Ideas on how to help caregivers

Our tubie isn’t going to break. – It’s easy for some people to feel like they have to be gentle with a tube-fed child so they don’t rip the tube out or cause discomfort.  Now, I’m not saying to be careless or just yank the tube out, but many kids can tolerate “normal” playing.  Take your cue from the parents.  Fortunately, Braxton is just a regular little boy and I foresee more hospital visits for little boy things like broken bones and stitches than we’ve had so far for his condition.  haha There’s no stopping him when he gets older.

Be mindful of our schedules. – Don’t be offended if you invite us out and we say no. It’s not that we don’t want to hang out with you, but it really does take A LOT to work out qualified babysitters.  It’s hard finding a good sitter for “typical” kids, so finding one who can properly feed and care for Braxton is even more difficult.  Our parents live out of town, they are the ones we trust the most and they know all that Braxton requires.  For the most part, they can’t just get here at the last minute (so, if you invite us an hour before the event, don’t count on us being there – we need a little notice) Don’t give up on us though! If we can actually plan something out, we’re more than happy to go out or have dinner with you!

Have a willingness to learn.  – We are so fortunate that our family has a true will to learn all about Braxton and all that it takes to care for him.  It really means a lot to have people who WANT to learn and be more educated.  Again, thanks to our awesome support system.

Stand up for us. – The world is quickly becoming a frightful place full of hatred and fear of the unfamiliar.  Braxton and other tube-fed children are not monsters. They aren’t aliens.  They are regular kids with real feelings.  If you see someone teasing a special needs child/person, using the ‘R’ word (retard), spreading animosity — remember Braxton, remember the people you know whom you love and care for.  More importantly take it as if it were YOUR child.  What would you do if someone was being disrespectful of your child? Don’t be afraid to take the opportunity to stand up for us and educate the person.  True, that some people will never change or understand, but how do you know they won’t if you don’t try? Also, take the time to educate your own children about accepting people of all abilities.  Children are much quicker to learn, accept, and move on.  Teach them young so that when they are older they can pass that on to their own children.

Thank you again to our family and friends, you guys have been awesome and we really can’t thank you enough!

Tomorrow’s topic: Happy Valentine’s Day! I love my tubie!

For all Feeding Tube Awareness posts, click here!

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