Tag Archives: undiagnosed syndrome

Jumping for Joy!

I’m happy to announce some EXTREMELY exciting news!!!!

This morning I got a call from our geneticist’s office regarding our insurance authorization for the Exome Sequencing….

Insurance APPROVED our request!! Our insurance is going to cover the cost of Exome Sequencing and our out-of-pocket expense is ZERO!!

Fortunately, (but unfortunately ? ) our deductible has been met and our out-of-pocket maximum has also been reached so we won’t have anything extra to pay to have this much needed test.   What an amazing blessing and early Christmas present for us! I am beyond words excited. If I could do backflips, I would have been doing them all day!

LoveI was sitting at my desk at work frustrated with our GI doctor for not calling me back and at my wits end trying to figure out what else I can do for Brax’s vomiting when I got the call…Immediately I felt the tears well up and start to fall down my face.  Tears of JOY! Thank you, thank you, thank you ALL so much for your prayers and well wishes! God has been so good to us and continues to bless us along this journey.  We go next week to have blood drawn and sent off and then it will take about 5-6 months to get the results. Hopefully, this finally gives us a diagnosis and the answers that we need.  Just another step on the journey, but it’s such an important one and I’m sooo thankful we have the opportunity…

4 Comments

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

The Silver Lining

Silly Face

Handsome Man 🙂

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 🙂

Back to the good news. 🙂 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….

1 Comment

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

Happy Saturday!

A happy Saturday it has been indeed!! The kids were both wide awake at 7:25am and mom never stood a chance.  I definitely miss sleeping in, but waking up to the cutest smiling faces takes the sting out of being up so early.  We played laying down in bed for a little while before we actually got up and moving. Because, no matter how cute those smiles are, this mom isn’t jumping out of bed at 7:25am!! Hahaha

We did meet up with the U.R. Our Hope group at Iron Cactus for some delicious lunch and great conversation about this journey we are all on.  I love the support that we have from friends and family, but it really is something else when you can talk to people who share your experiences. It was really nice to talk to other people and meet other kiddos in our boat.  We also got to see our Speech therapist and Physical Therapist’s supervisor. They’re so wonderful. I love them so much and they genuinely care for Braxton. I love people who work with kids and actually have a passion for the kids and aren’t just present for a paycheck. I’m so fortunate.

Welp, my football game didn’t go so well to say the least. Time got away from us at the restaurant and I missed the entire game. It was probably for the best haha Upset about the loss, but not nearly as much as I would be if I had seen the game!

We got home and spent the afternoon playing at home and watching some TV. It’s so fun to be able to interact with Braxton. I love that he can respond and play with us. Rain has been off and on all day, so looks like it’s dinner time and then we’ll cuddle up and watch a movie until bedtime. I hope the rain doesn’t spoil our plans for tomorrow!

Leave a comment

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

Fun Times Ahead!

Good Morning and Happy Saturday!!! Fun-filled weekend planned for myself and the kiddos. Dad is working, so it’s just us.

Today, we will be attending a luncheon with U.R. Our Hope at Iron Cactus – yum! – Since I’ve finally worked up the courage to share Braxton’s story, I figure it’s time now to start getting more involved with organizations for special needs children or kids with rare/undiagnosed syndromes like Braxton. I think all this time worrying about Braxton, I didn’t realize MY own NEED to find people who can empathize and know exactly what it’s like to be in our shoes. “You waited HOW LONG to see that Dr?” “OMG, Me TOO!!” I didn’t realize how important those conversations are to help me through my frustrations. I’m very excited to start paying it forward and finding more ways to be involved. 🙂

Then, as you know, mom is a UT graduate so there’s this little ol’ rivalry game today, so after the luncheon we’re rushing home to catch the rest of the game. Hook ’em Horns! \\m// hehe

Tomorrow, I am planning to take the kiddos to check out a new Church since we’ve moved. I did a little research and turns out the pastor of that church has a daughter with special needs [I believe she has a form of hydrocephalus – water on the brain] so again, I think it will be good for us to find some additional guidance through our journey from people who have shared our experiences. Looking forward to it!

After Church, I found out about an event close to downtown Austin for special needs kids. There will be fishing in Lady Bird Lake and other games/entertainment. Hoping it doesn’t rain so I can take the kids!

Probably will be pretty exhausting, but should be tons of FUN for the kids and I – and that is totally worth it! 🙂

20121013-112313.jpg

20121013-112326.jpg

2 Comments

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

Beyond Frustrating!

I swear, when it rains, it pours for Brax. 😦

We have his first Post-Op follow-up for his hand surgery tomorrow and they will change his bandages for him.  Follow-up again next week to change bandages, and then once more the following week to finally take the bandages off.

Monday, we went to see GI about Brax’s recent increased feeding difficulties and got nothing but bad news it seems.  With all the coughing and vomiting GI is now concerned that Braxton has reflux.  We started Brax on an acid blocker a couple days before surgery last week to see if that would help stop the vomiting and help heal the esophagus which has likely had some erosion from vomiting.  The dr said that sometimes after an illness like Pneumonia, we can develop gastroparesis where the stomach has problems emptying properly due to the illness.  Monday we followed-up on that and not sure if the medicine helped, or decreasing the speed of his feeds had more to do with it.  The doctor decided to go ahead and switch Brax over to Pediasure Peptide which is a formula that digests a little easier so that his stomach empties faster to address the possibility of gastroparesis.  He also decided Brax needs to have a Gastric Emptying Scan which is a study that will basically x-ray Brax’s stomach while he digests his formula over the course of about 2 hours.  This will help to tell us if Brax is definitely having issues digesting food properly. The cure? Surgery. Ugh. The doctor also had us revert back to using the feeding pump for Brax’s G-Tube instead of feeding by mouth.  He wants us to still offer his bottle and food just so he knows he needs to keep doing it and doesn’t develop a complete aversion to eating/drinking by mouth.  He was doing so well before he got sick, now we have all this. It sucks.  I was able to go ahead and the Gastric Emptying Scan scheduled at the end of next week. Our Medical Supply company got us a new shipment of the new formula. And we are continuing the acid blocker and the slower feeds using the feeding pump.

Great! Right? No. Today Brax threw up two of his feeds at daycare.  I was going to try and keep him home while he was recovering from surgery, but those plans fell through and I had to take him to daycare.  Extreme mommy guilt set in. Then, the physical therapist called me to tell me he threw up a majority of his feeding and she was concerned.  Since this has been an issue I decided to let him stay and just slow the feeding pump down even more for the next feed.  Welp, right on schedule 4 hours later daycare was calling that he’d just thrown up the entire feed again. Worst mommy of the year goes to?? This is one of those days I wish I didn’t have to work out of the home. Medicine, new formula, slower feeds and he is STILL throwing up! What gives?!? Left a message for GI Dr, but of course no word just yet.  I’ll be calling all morning until I get a hold of someone.  Now that we are home, Brax has just been somewhat fussy and grumpy. His afternoon feed is finishing up and he fell asleep so we’ll see if he can keep this one down, plus this evening as well.  Also scheduled an appointment with the pediatrician in the morning because his cough is not getting better and I pulled a bunch of green stuff out of his tummy. Sinus Infection maybe? Ohhh I dunno, at this point I’m just overwhelmed and frustrated.

Tuesday, we also saw the ophthalmologist because I’ve noticed Braxton’s eyes crossing intermittently throughout the day and I wasn’t sure if it was anything she needed to look at.  Of course, we get to the office and his eyes don’t cross once! Thankfully, I did happen to have a picture on my phone and she said he was definitely crossing. There are 2 different kinds of crossing. There is one where glasses would be needed to correct it, and another where it just happens occasionally but kids usually grow out of.  To test we have to do a refraction test, so dr gave us some eye drops that we are to use a couple days prior to seeing her and the drops actually bring out the crossing if it’s the one that needs glasses to correct.  Lovely, my child may have glasses annnnddd hearing aids =/ I’ll love him no matter what and he’ll always be the cutest kid I know 😉 But, people suck and are just not raised right anymore and just stare at him, but that’s another post entirely…we’ll go back in a few weeks once his hand situation is taken care of to see what’s going on with his eyes.

I think that’s everything. Confused? So are we. =/

Leave a comment

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