Monthly Archives: November 2012

The Silver Lining

Silly Face

Handsome Man ūüôā

How fitting that I posted about the rain of sickness upon us, that today amongst the clouds we found our silver lining. ¬†Today, we saw our geneticist and she had some pretty exciting news for us. ¬†We had previously discussed Whole Exome Sequencing with her earlier this year, but since it was still fairly new, most insurances weren’t yet picking up the cost for it. At a mere $8,000 I can’t believe we didn’t just do it anyway! -__- *sarcasm* Who has an extra $8,000 lying around for a test like that?! Anything we had in savings has certainly been used in 17 months of caring for Braxton and his countless doctors appointments. ¬†At this point, she also explained that Blue Cross Blue Shield basically considers genetic testing as “experimental,” I don’t see how any thing that could help determine need of future healthcare costs could be considered “experimental,” but that’s beside the point, when she previously discussed it with us, it was out of the question.

I should back up a moment and explain a little about just why this test is so important. ¬†This is in my own way of understanding the test and in no way totally scientific. ¬†Whole Exome Sequencing is a way of testing specific regions of DNA that we know the functions of. ¬†There are some 22,000 genes in our body and at this time researchers only really know what about 5,000 of them do and/or specifically control. ¬†Exome sequencing breaks those 5,000 genes down into regions and can tell what region controls or affects different parts of the body. ¬†For example, researchers know the specific gene sequence that signals if there is a defect on the 21st chromosome in our body which signifies Down Syndrome. ¬†Because Down Syndrome is now so well known and studied exome sequencing is not necessary to detect it, but for other syndromes that are rare or still unknown (like DS was previously) Exome Sequencing is excellent in telling doctors and researchers exactly what part of a person’s DNA is different. ¬†This could then tell doctors exactly what gene has a defect and what that particular gene controls. ¬†This in turn could help prepare parent expectations as for prognosis in their child’s life. ¬†If there is a gene defect that controls motor movement a parent would then know motor skills like crawling and walking need extra help and attention. ¬†It is also possible to have a hybrid of syndromes. ¬†A child could have signs and symptoms of two different syndromes and not fit into either of them perfectly, exome sequencing could tell doctors exactly what two syndromes are at work and help formulate a better plan for the future. ¬†This is WAY oversimplified, but it’s what makes sense to me and hopefully to you. You can check out this link for more – Exome Sequencing (Wiki)¬†here is some info from one of the companies who performs the test – Ambry Genetics Exome Sequencing¬†¬†From my understanding, there is also Whole Genome Sequencing which actually tests all 22,000 genes as opposed to only the 5,000 that we know. Talk about information overload! Braxton has already had all other tests that are lower cost that could potentially give us answers, they were all returned as normal. ¬†The two isolated genes our dr had tested also came back normal. ¬†Continuing to grasp at straws and test one gene at a time is time consuming and incredibly expensive. Far more expensive than doing this more all inclusive test now and getting it over with.

I understand, that although this would tell us what gene has a mutation on it, it may still not answer our questions. ¬†If it turns out to be a rare disorder we may have no numbers to go off of, no prognosis, no expectations, but at least we’d have a cause and a name. Technology is ever evolving and in time we’d know more, so to know NOW the root of the problem is extremely beneficial. ¬†The test would also help us to determine if it is some random genetic mutation or if all future children could have this issue. ¬†Stop right there grandmas! There are NO new babies on the way now or in the near future!!! hahaha But, it’s something we need to know so that if way, way, way, way, in the future we decide to have more children we’ll know their chances of having the same syndrome. ¬†The results also wouldn’t necessarily change our plan of action with regard to therapy. It’s obvious that whatever syndrome it is, it is causing developmental delay in all areas so all the therapies we have in place are still necessary. ¬†It could however offer answers as to WHY the delay is there and could potentially help our therapists better address the issue. ¬†Bottom line, this test is what Braxton NEEDS right now. ¬†If Braxton is accepted in to the NIH program we told you about earlier, they would do either the genome or exome test as part of their research. ¬†NIH is still reviewing Braxton’s records and it will be quite some time before we find out if he is accepted for that program. ¬†Buuut…..

Happiness

Happy baby..yay for good news ūüôā

Back to the good news. ūüôā We may NOT have to wait for NIH! Our geneticist told us today that she felt we’d exhausted enough testing and she recommended we move forward with the Whole Exome Sequencing. She said some insurances are picking up the cost of exome sequencing as long as prior authorization is obtained first! Although they told us previously about BCBS and genetic testing, (surely we can’t be the only ones with BCBS) they assured us that no one they have submitted has been flat out denied. ¬†The biggest problem has been out-of-pocket expenses on the family. ¬†Thankfully, we are near the end of the year and our deductible has been met, as well as our out-of-pocket maximum, so with a little luck, if Blue Cross approves our pre-auth within the next 2 weeks, it is possible we will have our blood drawn and sent off before the end of the year! Hopefully, if there is still an out-of-pocket cost it won’t be too much so that we can have this test done and finally get the answers we need. ¬†Such an amazing silver-lining. ¬†Even amidst the storm God reminds us that He’s here….

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Rain, Rain, Go Away!

Not literal rain of course, but sickness just continues to rain over us. ¬†Braxton has been congested since birth basically and periodically fights sinus infections which led to pneumonia a few months ago. ¬†About 3 weeks ago now, I took him in to the pediatrician because he had a cold which seemed to be getting worse so I took him in to be checked. ¬†She said his lungs, ears, and throat were clear and it was all upper airway that was congested. As usual. As a precaution, she did give us an antibiotic since Brax is prone to sinus infections. Over the week, his cough did not get better, only worse. ¬†It also caused his vomiting to come back again because he was coughing so forcefully. ¬†Back to the pediatrician who diagnosed him with croup. ¬†I told her the last time he had croup the only thing that helped him was a racemic epinephrine treatment at the hospital. ¬†Instead, she gave us an oral steroid for two days and sent us on our way. ¬†We have a nebulizer at home and continued to give Brax Albuterol and Pulmicort breathing treatments, but since it’s not his lungs that are congested, they had little affect on him.

Mommy, Make It Better

At the ER Tuesday

Needless to say, the cough only got worse, the steroid did nothing. Last Tuesday, we ended up in the ER again as the cough just continued to worsen. ¬†The ER doctor again said it was an upper airway infection and not in the lungs. ¬†They did a chest X-Ray anyway and they gave him the racemic epinephrine treatment after I again explained that that is what helped him last time. ¬†They also suctioned him really good and tested him for flu and RSV. ¬†Thankfully, the chest x-ray came back clear and the flu and RSV tests came back negative. ¬†They gave us the Oral Steroid again, this time for four days and said to continue his nebulizer treatments. I’ve been diluting his feeds again with pedialyte because it seems the full strength pediasure peptide is just too much. ¬†Plus, the coughing is so violent at times that it causes him to vomit. ¬†Seems that the steroid is working and breaking up all the mucous, but it’s upsetting his tummy now too. ¬†Hopefully, we won’t have to dilute feeds much longer. ¬†Slowly trying to get back to full strength formula to see if he can keep it down. ¬†Got the humidifier going non stop too. Seems to be helping overnight, thankfully!! Brax isn’t waking up from coughing fits as often overnight so hopefully he’s on the mend.

But now, mommy is sick too! Blah. We get so caught up in taking care of our children when they are sick that we forget to take care of ourselves to our own detriment. ¬†Pretty sure I’ve caught some kind of stomach virus. ¬†I haven’t been able to eat anything for 2 days and my strength and patience are wearing thin. ¬†I can barely carry Brax up and down the stairs right now. ¬†I hope whatever it is goes away soon!! I hate being sick. I gotta remember to take care of myself so I can take care of my kiddos. ¬†It’s tough to put my own needs above my kids, but sometimes you just have to. ¬†Aileen’s dad is coming to pick her up for the rest of the weekend, poor girl is so bored since I haven’t been able to do much of anything. ¬†After I get Brax bathed and in bed, I’m going to take a nice long shower and try to relax too. ¬†Momma needs rest!

Miserable

This is how we spent the weekend

Mommy kisses

Sometimes it takes more than mommy’s kisses

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We Are Thankful

‘Tis the season of giving thanks and this year we have so much to be thankful for. ¬†This time last year, Braxton was 5 months old and we were still trying to figure out what was next in our journey. ¬†We have all come a long way in the past year.

As a family, we are happier and stronger than we were last year. ¬†The undiagnosed journey has a way of turning lives completely upside down. ¬†Through the year we’ve learned how to handle the stresses of it all [We’re no experts, but I think we do pretty well] and are finally able to enjoy our lives to the fullest. Make no mistake, the path to this acceptance is a long and treacherous road, but if you can make it through, and you will make it through, it’s completely worth it.

Today and everyday we are so thankful to wake up and see Braxton’s smiling face another day. ¬†Once a doctor tells you that your child isn’t going to live more than a month, you truly realize the miracle that is life. ¬†I’m thankful for 6 am wake-ups because it means my child is alive. ¬†Braxton is so alive. ¬†He has come so far this year, heck he’s come so far in the past two months! Four months ago, Braxton couldn’t sit, couldn’t crawl, couldn’t stand, he just laid there and we had to do everything for him. ¬†Then, it was like a switch turned on for him. At 12 months he finally sat unassisted, 14 months he was moving from a sitting position to up on all fours trying to crawl and moving backwards, 15 months he was pivoting and moving with purpose, just before 16 months he finally started crawling, now at almost 17 months he is kneeling and pulling himself to stand….walking is not far away. We are so very thankful for each and every one of these steps. ¬†There are so many little things we take for granted in life, but when you are told your child can’t or probably won’t ever learn to do these very basic things, the extreme joy you feel inside when he accomplishes any single one of them is unexplainable. ¬†There are so many emotions at once – happiness, pride, joy, excitement, angst, anticipation for the next, and most importantly gratitude. ¬†We are so grateful, so thankful to see our child growing and thriving. ¬†He’s happy, he’s loving, he’s an adventurer, he’s a fighter, he’s a miracle, he’s the joy of our world. And there is still SO MUCH more in store for him and I can’t wait to see what goal he accomplishes next. ¬†For now, we are living in the moment and are ever so thankful for every minute he is in our lives.

Halfway There

This is just 2 weeks ago. Braxton could only manage to pull himself halfway up.

Standing Tall

This was just the other night. Braxton found his way all the way up.

 

 

Aileen and Mom

Thankful for my mini-me

To my daughter, Aileen. [She’s 6 and can’t read this, but I have to share] I am thankful for my daughter. I am thankful Joseph has taken her in as his own and has been amazing with her the past few years. ¬†I am thankful for her patience and impatience. I’m thankful that she makes me realize when I’m not being fair and ignoring her. I don’t mean to, but when your 6 year old tells you that she feels like you don’t play with her enough, it stings, but it’s honest, and I’m thankful for that honesty. ¬†This is still new to me, having a child with special needs, I’m still learning to balance having 2 kids. Expecting a 6 year old to be patient with that is asking adult things of a child, and I’m grateful she still loves me no matter what. She’s so smart and such an incredible little girl. She’s gotten much more helpful with Braxton and less jealous. Now that he’s moving, she can actually play with him. I’m thankful for those moments. I’m thankful that Braxton has an amazing big sister. I love you with all my heart.

Mom and Dad

To my other half, Joseph. This year has been full of ups and downs, smiles and tears, fun and sleepless nights. ¬†Thank you for being an amazing father. ¬†There are so many guys who would have run as fast and as far as they could from this situation, but you have been a wonderful man and here for us in so many ways. ¬†Thank you for running all over town because I booked 3 appointments in one day, thank you for waking up when you’re home so I can sleep, thank you for cooking and cleaning, thank you for sticking with a job that keeps you away because you know it provides for us. ¬†Thank you for everything you do for me and our family. ¬†I love you more than you’ll ever know.

We are thankful for our therapists. Oh gosh, our therapists! I love them! All of them!! They are so much more than therapists…they are our friends, they are our family. ¬†They love and care for Braxton not as patients, but as children of their own. ¬†I am so thankful our team has such incredible passion for what they do and aren’t just here for a paycheck. ¬†They go through all our joy and sorrow with us. They cheer in excitement when I send them a video of Braxton doing something for the first time. They share my frustration when he regresses and we can’t seem to figure out why. ¬†They answer every one of my questions, never tiring or making me feel like a burden. ¬†I know you guys read this, thank you. I can’t say that enough. Thank you for all that you do and for loving our child, we are so thankful that you helped him get where he is today. ¬†I watch him crawl, pick up a toy, take a few bites of food and I’m just in awe of the things you helped us do…things I never thought he’d do, but he does because you helped us.

We are thankful for our family and friends. Family is important in times like these and our families have been great. ¬†Our family is there to answer our calls and hear our cries and join in our joys and sorrows. ¬†They are here to watch Braxton when we have to work or need a short break to regain our strength. To our family, we love you and thank you. ¬†To our friends, you don’t know how much it means to us to see you share our story or to see your words of encouragement when we express frustration because we’re at the doctor for the gazillionth time. ¬†To understand that it’s a huge deal when we post statuses about milestones Braxton should have reached months ago, to see you share in our excitement without judgement is a blessing. ¬†Thank you, each of you is amazing.

We are thankful for our readers. ¬†We started this blog to keep our friends and family updated, but we’ve received so much support from complete strangers. ¬†Thank you for your love and positivity. ¬†We’re at over 7,600 views in just a few short months of me starting this blog and I still can’t ¬†believe the impact it’s had. ¬†To everyone who reads this, thank you. Thank you for taking time to enter our world. Thank you for taking the time to like, comment, or email us. We are so appreciative.

Today and everyday, we are thankful.  Happy Thanksgiving to you and yours!

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G-Tubes: A Blessing and A Curse

G-Tube

This was after his hand surgery, but you can see the button and extension in the picture.

We had a lot of family and friends over this weekend and naturally, questions about Braxton arose. Nothing bad, but just makes me think more about the little miracle we have. ¬†Braxton has had his G-Tube since he was 2 weeks old and I remember very clearly how daunting the idea was. ¬†Now, almost 17 months later I have found so much that I love about Braxton having a G-Tube, and so much that’s not so great. We often get asked about him having his tube and how difficult it is, whether or not it bothers him, and so much more. ¬†For us, this is “normal,” for others, it’s new territory. ¬†Joseph has even said he hopes all our children need tubes..jokingly of course, but we’ve grown so used to it over time and have realized several advantages. Here are just a few things I’ve found I like and some that drive me nuts!!

A Blessing

  • First and foremost, medicine – have you ever tried to get a child to take medicine?! If so, you are well acquainted with the wrestling match that ensues. ¬†If not, allow me to enlighten you… No matter how “awesome” you make it seem or how much you flavor it, any kid sees a syringe or cup full of medicine and they’re out of your sight faster than you can blink. If you’re fortunate enough to catch them, you literally have to pin them to the ground sometimes and make them take the medicine! Maybe not always, but more often than not this is how it goes down. ¬†With the G-tube you lay him down open up the medicine port and push the medicine in followed by a little water to make sure it’s in the tummy. ¬†No screaming, no wrestling, no tears…yay! Definitely my favorite thing – especially since Braxton has been on medicine since birth basically.
  • Set it and forget it – With the G-Tube we can feed Braxton anytime, anywhere, and on the go. ¬†We don’t have to wait to run an errand or go to an appointment because of feeding time. ¬†We simply hook up the pump and Braxton feeds on the way. ¬†Actually pretty convenient. When he was younger we had continuous feeds overnight [we fed him over the pump slowly for 6-8 hours] We’d set his pump to only feed him a few milliliters at a time so that 4 ounces lasted about 4 hours. When the pump beeped that the feeding bag was empty we poured in another 4 ounces and set the pump again. From the beginning, I think this helped Braxton sleep through the night because he was constantly fed, and mommy and daddy got plenty of sleep since we were literally awake 5 minutes while we set up the 2nd feed of the night. Thankfully, we didn’t have too many sleepless nights due to feeding every 2 hours.
  • Sister can help – from the moment I found out I was pregnant Aileen was dying to be able to hold Braxton and feed him a bottle. ¬†Once we got the tube I thought her dream would be crushed, but we found other ways she could help. I’d let her help pour the milk in the bag, and even showed her what button to push to turn the pump on and off so now can run over and turn the pump off when it starts beeping or even do it in the car while I’m driving.
  • Always eating – Braxton gets his entire feed all the time. [With the exception of the vomiting spells he was having] Braxton is on a set calorie intake so we know exactly how much he needs to be able to gain weight in a healthy way. ¬†Some kiddos won’t eat when they aren’t feeling well and end up dehydrated. When Brax isn’t feeling well he may have bouts of vomiting, but we can always dilute the feed with pedialyte and/or run the feed a little slower to make sure he still gets it. We don’t have to adjust the feeding schedule just because he’s asleep or anything like that. He eats on time all the time.
  • Easy to learn – Sure, it was pretty scary at first and I can’t tell you how many times there were gaps of air in the tubing because I just couldn’t figure out how to set it up correctly, but it was very simple to learn and we’ve been able to easily show others how to use it without any issues.
  • We can still play. – While Braxton is eating we can still play and interact with him. Sometimes I’ll sit him in a chair with some toys in front of him on a small table and I can work with him while he eats. ¬†No jumping or spinning, but we can still have fun. ūüôā

A Curse

  • Beep, Beep! – I dream of that dang beeping sound! When the feed is finished the feeding pump will beep to let us know and we can turn it off. No big deal huh? Well, sometimes the pump beeps for no reason! It will say “No Flow” or “No Food” and the clamp on Braxton’s extension is clearly open and the bag is clearly full of formula but still it’s beeping. ¬†Usually it’s that there is some small kink in the line, piece of food got stuck in the tubing, or the sensor has something blocking it. ¬†There have been times that I “fix it” lay back down for bed and the SECOND I get comfortable…BEEP, BEEP, BEEP!!! Oh man, had a few nights that this went on for several hours…our pump was almost smashed with a hammer and thrown out the window!
  • Leaks – Go to pick up Braxton and his shirt is completely SOAKED! Not from spitting up, but because the extension came loose, the balloon lost water, the medicine port opened and leaked all over the floor, or the tube came loose from the extension! Talk about a big mess to clean up.
  • It pops out!! – I still remember the first time the button popped out balloon full and all. We were so scared. I quickly remembered the steps the doctor told us regarding how to put the button in, but I’d never done it before. It was either try to do it or rush to the ER 13 miles away and risk the hole closing and needing surgery again…I tried and I got the button back in just fine. Braxton cried because of course it hurt having it pulled out, but we were able to console him. ¬†Scary for sure, but glad I figured it out.
  • Medical Supply Company ¬†– We can’t just pick up an extra bottle or pump or bag at the grocery store. All the supplies for feeding HAVE to go through a Durable Medical Equipment (DME) company and ANY changes have to be authorized and it’s nothing that happens overnight.
  • Ball and Chain – Now that Braxton is mobile, it’s becoming increasingly challenging to get him to stay still for a feeding. ¬†We still have the pump over 30 – 45 minutes and anyone can tell you getting a toddler to sit still more than 2 minutes is impossible. ¬†Braxton will crawl across the room with the tubing stretched tight in the 30 seconds it takes to throw something away. We’ve had to sit him in a chair with lots of toys to try to keep him content, but I don’t think that will last much longer!
  • Clothing! – We had so many cute outfits we bought before Braxton was born that he couldn’t even wear! ūüė¶ Anything with a zipper was out of the question because it interfered with overnight feeds, couldn’t have him connected and zipped at the same time unless of course we cut holes in the outfit. ¬†I also have to have him in onesies as wearing plain t-shirts I’m afraid of the button getting caught on something and coming out. There is adaptive clothing available, but some of it is pretty pricey and there is plenty that works instead for now.
  • Daycare – Fortunately, we found a daycare that isn’t designated as “special needs” but is willing to work with us and learned to use the G-Tube and they’re just amazing. But finding childcare is very difficult. ¬†The moment I mention feeding tube everyone turns us away. ¬†Since we’ve moved I found no one in the area to care for him, so we’ve stayed at the daycare by our old house. It’s a little out of the way, but I love them and Braxton is happy there so we’re happy. I just fear moving further away…hopefully we don’t have to anytime soon.

I’m sure there are many other things I could add, but I’ll think of them later..This is simply our own experience with a G-Tube so feel free to share your own in the comments! I’d love to read some of your pros and cons of feeding tubes ūüôā

 

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The Madness Continues

COMPLETELY FORGOT to share some great news!! We have recently put together a packet of all of Braxton’s medical records [which is a lot for his short life] and sent them off to the National Institutes of Health’s Undiagnosed Disease Program! The NIH has a research program to help those in search of a diagnosis. ¬†The program is very selective and only invites a small number of people to be part of their initiatives. ¬†If selected, we would travel to Maryland for further testing and evaluation and hopefully find a diagnosis, or at least be a step closer, and the best part is all testing and travel would be FREE!! This is an amazing opportunity and hopefully Braxton will be selected to participate. ¬†It takes about 8 – 12 weeks to find out if we have even been selected. *Fingers Crossed*

We are also in the process of looking for a second opinion from a geneticist. ¬†Not that we are unhappy with ours, I just feel that two heads are better than one, so maybe someone with a fresh look could offer a different opinion. ¬†I’m starting to feel like we NEED to find a diagnosis. I was overwhelmed at first and had to step back and just be ok with Braxton not being diagnosed and just being happy with him growing and thriving, but the need for answers has returned. Sixteen months have passed and I feel like we know nothing more than we did when Braxton was born, if anything, I have even more questions. ¬†I am absolutely thrilled that he is always so happy and that he is continuing to grow and make such progress, but I really want to get to the bottom of what’s going on. ¬† ¬†Hopefully something comes of these efforts and we finally get Braxton diagnosed. I can’t bear the thought of going years and years not knowing, hopefully…soon.

We’ve also finally got everything settled with services at the new house through ECI [Early Childhood Intervention]. Since we moved into a different county we had to have everything transferred over and it took some time to be able to coordinate everything again. ¬†Soooo, that means we’re back to the madness of trying to coordinate home visits with everyone. Not only do we have Speech, OT and PT twice a week, we’re now coordinating Vision Therapy, Hearing Services, and Orientation & Mobility services 3-4 times a month. ¬†It’s definitely crazy, but we want to make sure we do everything possible to give Braxton the best chance at success. ¬†I’m thankful the schedule we have allows us to be able to somehow fit all of this in. ¬†Joseph is amazing when he is home with keeping Braxton at home and making sure he gets to all of his appointments on his week off. ¬†Luckily, all of our therapies are in home, but it’s still kind of hectic when you have several visits in one day. ¬†At the end of the day, as long as Braxton continues to make progress we’re going to continue to do everything we can to keep it up. After all, that’s what parents are supposed to do…ensure your child has all the tools available for success. ¬†We can’t do it for them, but we have to be enable and empower them to do it all on their own.

The post would not be complete without pictures of our handsome little man ūüėČ

Baby Jail

Lately, the only way I can get anything done is by confining him to the playpen! He’s gonna be a handful

Future Quarterback

Practicing his quarterback pose ūüėČ

Nom nom nom

Still teething and chewing on all his toys

Braxton can almost stand himself up, he gets halfway then can’t figure out what’s next

 

 

 

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