Tag Archives: undiagnosed syndrome

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 🙂

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.


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

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