Tag Archives: rare syndrome

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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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!

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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. ūüôā

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! ūüôā

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And Now We Wait…

Arrived at Dell Children’s Hospital this morning at 7am. Got Braxton all checked in and prepped for surgery. We started later than planned, because the doctor was running late from another procedure he did this morning. They finally took him back a little after 9am to get started. One of the nurses told us they would be calling us with updates throughout the procedure. The hand part will take about 3 hours and then the ABR will be about an hour and half. I will keep editing this post as we get more info and to let you all know the outcome….Thank you again for your continued love and support.

9:47 am – Nurse called to say that Braxton was under anesthesia and doing well. Dr is starting on his right hand.

10:50 am – OMG! Hand surgery is done already! I thought they said it’d be 3 hours!? It’s only been an hour! Just spoke to the doctor and he said Braxton did great. He did need to do a skin graft on both hands, but they are very small and all should heal well. We’ve got some follow-up appts in the next 2 weeks, and all should go well. Brax is going to be so MAD though! The doctor said he’ll need to stay in his bandages for 2 weeks and so he can’t do anything that would manipulate his hands. It’s really going to kill little man to stay still. Now, they are doing the ABR which can take up to an hour and a half. If we’re lucky that will be done quickly too!

11:40am Nurse called and Brax is still doing well. They are about halfway through the ABR. Next time they call it will be to speak to the audiologist. Then we get to see him in the recovery room. Ugh I’m the worst at this waiting game. Patience is a virtue I do NOT have.

12:10 pm Nurse called and said the audiologist would be with us soon. ¬†Spoke to her and Braxton’s hearing hasn’t improved. ¬†These results confirm his last test which shows a mild hearing loss in both ears. ¬†She says we still definitely need hearing aids and it’s great that we’ve gotten them already. Good news is that his hearing hasn’t gotten worse and assuming everything else (i.e. brain structures, voice etc) is ok he should be able to speak just fine, bad news is that his hearing most likely will not improve over time. I suppose it’s always a possibility, but she says she hasn’t really seen that happen in her 37 years doing this. ¬†At least we have everything going already that he needs to be able to start talking to us, and hopefully we don’t learn later that his brain structures may keep him from speaking. ¬†For now, we WILL be optimistic. It’s only a matter of time before he starts talking like crazy ūüôā

The Next Update will be a new entry after we’ve seen him in recovery and have him home safe and sound.

 

Some pictures to make you smile. Braxton is truly the happiest baby even in the worst of times.

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Pre-Op and Genetics

Well tomorrow we go for Braxton’s hand surgery. ¬†He has bilateral syndactyly, which means that his hands are webbed. ¬†Well not completely. His left hand the ring and pinky finger are almost completely webbed together. On his right hand, the ring and pinky finger are webbed, but the webbing doesn’t go completely to the top. (Pics below) At our first visit to the hand surgeon he told us he’d like to wait as close to 2 years as possible so there would be more room to work with. ¬†With a 1-2 millimeter margin of error, on a newborn that 1-2 mm could be huge so we needed to wait. ¬†At our visit in May, the dr decided that Braxton’s webbing could be corrected pretty easily and that we could do it this summer. ¬†We followed up in July, and here we are all scheduled for surgery.

Braxton will need a small skin graft on his left hand due to the webbing and so they’ll take a little bit of skin from inside his arm to do so. ¬†Doctor said it will be about a 2 week recovery. ¬†He should be in a splint type thing for about a week and then bandages for another week. ¬†Braxton is going to be so mad! He’s doing so well trying to crawl and pick up toys, I really think it’s going to kill him to not be able to use his hands very well. ¬†But I know in the end it’s better. ¬†I mean, why don’t you try to tie your ring and pinky finger together and see how well you are able to use your hand. Once they are released I’m hoping to see even more progress in Braxton with regard to picking up toys and maybe even starting to feed himself! ¬†It’s scary to think he’ll be under anesthesia for a little over 4 hours, but exciting to see the progress he’ll be able to make once the webbing is cut.

You can see where the webbing has almost completely fused the ring and pinky finger together

You can see where the webbing is very short so should be easily corrected.

While we are there, Braxton is having some blood drawn for Endocrinology to check his growth hormones to be sure nothing is abnormal there. And we are also having blood drawn for the Geneticist. ¬†I spoke to her today and she told me there are 2 specific genes she will be testing. ¬†Ideally, we’d want to examine every gene, but it’s very, very expensive to do so. ¬†There is a genome sequencing test available now, but it’s still in the early stages and not covered by insurance. ¬†We hear within the next couple years the test may be covered by insurance. ¬†So for now, the geneticist has to decide what genes she thinks would most lead to a syndrome based on Braxton’s features and all the issues he’s had.

The first gene she is testing is the SALL4 gene which is associated with “Duane Radial Ray Syndrome” which can cause eye disorders and abnormalities in the bones of the arms or hands. ¬†This syndrome is very rare and so there isn’t a whole lot of info out there about how many people worldwide have, or much on expectations. ¬†People with the combination of Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include unusually shaped ears, hearing loss, heart and kidney defects, a distinctive facial appearance, an inward- and upward-turning foot (clubfoot), and fused spinal bones (vertebrae). [Info from:¬†http://ghr.nlm.nih.gov/condition/duane-radial-ray-syndrome]

The second gene is the ZEB2 gene which is associated with “Mowat Wilson Syndrome” which can affect GI tract, genitourinary, heart, and eyes. ¬†The syndrome is also associated with Hirchsprung Disease which is a disorder of the colon in which certain cells are absent causing chronic constipation [something Brax has indeed had issues with]. ¬†Reading through all the anomalies associated with Mowat Wilson, I see that Braxton has a lot of the ones listed, so maybe a diagnosis is close. ¬†But then again maybe not. ¬†The doctors were initially CONVINCED he had Trisomy 13 or 18 because of his facial features and that test came back normal. ¬†¬†This is also a very rare syndrome so not much is known about life expectancy and whatnot, so even a diagnosis may not be helpful. [Info from:¬†http://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome]

The Endocrinology workup should be back in about 3 weeks, the genetic workup will take 1-2 MONTHS so just lots more sitting and waiting. ¬†It’s not like a diagnosis would make me love my son any less, but I drove myself crazy the first few weeks of his life researching disorder after disorder learning about expectations and short life expectancies…it was really quite depressing. ¬†I decided then and there to stop researching, get away from the computer and just take it day by day. ¬†A diagnosis IS NOT going to change our current treatment plan. ¬†We’re going to continue to do what we’re doing, all the same doctors will be involved, all the therapy will be the same, and most importantly we’re going to love and enjoy him just the same. ¬†Sure, a diagnosis would give us some idea of what we could “expect,” but you know what Braxton has showed me about “expectations?” He doesn’t care about them. ¬†He’s going to continue to thrive and beat the odds. ¬†He doesn’t seem to care about sticking to doctor’s “expectations.”

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