Tag Archives: neurology

A Big Day Ahead

Well, tomorrow….actually, in just a few hours we are scheduled to be at Dell Children’s Hospital, and naturally I can’t sleep.

Thankfully, Braxton is not having any invasive procedures or major surgery, but he will be under anesthesia and anytime that’s necessary I’m more than worried.

Before we had a diagnosis, we saw our neurologist who decided Braxton needed an updated MRI of the brain and an EEG. He originally schedule the EEG in office, but they decided it would be easier to do both procedures at once and turned it over to the hospital.

Then, we had our appointment with the geneticist which gave us a diagnosis. At that appointment we discussed somewhat “the next steps.” We discussed some of the signs and symptoms that are common to Rubinstein-Taybi that had not yet been found in Braxton. One such symptom was a tethered cord or other abnormality of the spine. From previous visits with our Orthopedist, we knew Braxton had a mild form of scoliosis, but the doctor was unable to tell if there were any vertebrae missing or pieces of vertebrae missing. An x-ray also does not show the actual spinal cord to see if it was abnormal. Therefore, the geneticist told me I should call and let the orthopedist know our new diagnosis and that Braxton may be at risk for these things. Our Orthopedist decided to err on the side of caution and said an MRI of the full spine was necessary. Thankfully, we were able to get that scheduled at the same time as the EEG and Brain MRI.

I also called our Ophthalmologist, because she mentioned that if Braxton happened to go in for any imaging or procedures, that she could possibly check his tear ducts again to see if they have grown enough for her to be able to probe them or insert silicone tubes (NOT the glass tubes I mentioned recently). She was also able to coordinate her schedule and will be seeing Braxton tomorrow after his MRIs are done. It’s a very quick procedure and he may have some discomfort after, but he did ok the last time he had this done, so I anticipate no complications.

So, why can’t you sleep, mom? Well, because I’m a mom. And we worry. All the time. Seriously. All the time.

Also, because I have strict guidelines to follow regarding feeding times. Since Braxton has to be under anesthesia, I have to cut off food and liquids at a specific time so he doesn’t have any reaction to the anesthesia or throw up while he is under. I’ve already given him his last formula feed for the night. He is allowed clear liquids until 3 am so I’m staying up to give him some Pedialyte so he won’t be dehydrated from not being able to eat until sometime tomorrow afternoon. If I fall asleep, there’s no waking me up in 2 hours and then I’ll feel terrible about it in the morning. Then we have to be up at 5 to be at the hospital by 6. I figure that I will be sitting around waiting for 4 hours tomorrow, I can sleep then. Ha! Who am I kidding, I won’t sleep at the hospital either. For now, I’ll watch my little man as he sleeps ever so peacefully. I will definitely update again tomorrow (later today) as we work through all the different procedures.

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Neurology Update

Braxton looked like such a big boy waiting to be called

Braxton looked like such a big boy waiting to be called

Yesterday, I took Braxton to follow up with his Neurologist.  Overall, I think it was a pretty good visit…we didn’t receive any bad news or anything, so I guess that’s a good thing.  Our neurologist is very nice and extremely knowledgeable, but it still seems with most of our doctors, that they literally review the chart about 5 minutes before walking in the exam room.  They tell me things they’ve already told me before (perhaps they think I’ve forgotten, seeing my preparation with charts and spreadsheets in hand you’d think they’d know better) and ask me questions I’ve answered for them a hundred times.  I get that you have a lot of patients, but would it be so difficult to do a little more prep and at least make me think you care? =/ Ok, vent over, back to the appointment.

We went back over the medical history, and he asked if there were any new developments…doctor, we haven’t seen you in 6 months, of course there are new developments, but would you just ask me what you want to know, otherwise we’ll be here all day.  We discussed Braxton’s initial Brain MRI again, and he reiterated that Braxton has a dysplastic corpus callosum.  He mentioned though, that this wasn’t the CAUSE of all the other issues, that there was some other root that was to blame.  [This is actually a question I had previously, because looking up signs and symptoms for agenesis of the corpus callosum showed several things that Braxton has done or experienced. Part of me thought, “Hey, I’ve got it! There is no other problem, it’s because of this that everything else is happening!” Whomp. No such luck.]

Naturally, he told me it was critical that we find the genetic cause for everything.  I told him we were waiting for the results from our Exome Sequencing, and he looked and didn’t see anything in the file, but said he’d talk to our Geneticist since she is in the same office as him and see if he could find anything out.  The doctor pointed back to the physical features Braxton has that point to a genetic disorder (prominent ears, forehead bossing, etc)  and noted since multiple systems were involved that it was not simply something neurological in nature.  He told me that developmentally any issues that arise from this would be closer to those that affect people with mild cerebral palsy.  He did not say that Braxton has CP, but that his issues would be similar.  I was also told that Braxton’s condition could be noted as Static Encephalopathy – meaning a disease or disorder of the brain that will remain unchanged.The good news in that, is that it can’t get worse.  Doesn’t necessarily mean it can get better, but at least we know it won’t be worse (always reassuring). The key to all of this is stimulation and intervention.  How do we do that? By taking advantage of services and therapies, which we are already doing.  I am SO fortunate that we were hooked in to all the therapies we needed shortly after our discharge from NICU.  I know this is not the case for so many and it breaks my heart.  Knowing that kids CAN be helped IF they are helped early on, but don’t get the help they need because they fall through the cracks and end up worse than they should be just kills me.

Braxton was showing off the entire appointment.  He was babbling, sitting up, pulling forward to crawl, pulling up to stand, picking his feet up, he just couldn’t stay still.  The doctor obviously noted my confusion and fear and said, “Hey look at him, look at how great he’s doing.  You certainly have the therapies you need and to see his progress is pretty cool.” Yup, the doctor said Brax was “pretty cool” [that’s not news to us 😉 ] I asked about needing a new MRI and he said that he definitely wants us to have the MRI repeated, possibly this summer.  (We’re going to try and coordinate with ophthalmology so Braxton doesn’t need to be put under anesthesia more than necessary) It is important to monitor the brain development to ensure that there is nothing new or worsening.  Although he mentioned the condition would be unchanged, the continual testing and monitoring is necessary, because..well, because you just never know.  Just because it shouldn’t change, doesn’t mean it won’t.

Recently, I read about gelastic seizures, also known as laughing seizures, and became concerned because I felt like Braxton may have had a few episodes. These “laughing seizures” are just that, random outbursts of laughing/crying for a period of time.  I can recall at least 3 times that Braxton just started laughing for no reason, we thought it was cute, but then the laugh turned in to more of a cry with a grimace but still sounded like laughter at times.  It was the weirdest thing.  At the time I didn’t think much, but then I came across the article and my heart about fell out of my chest.  Everything I read, said these kinds of seizures are difficult to detect on an EEG which measures brain activity and can determine if a child is having seizures.  But when the doctor realized we haven’t had an EEG done since birth (ahem, SEE why you should look at a chart BEFORE you walk in the room!), he said we needed to have it done very soon.  An EEG will tell us if there is any slowing of Braxton’s brain activity that would be a concern or lead to seizure activity.  I only know that when I was younger I had febrile seizures, that would only occur when I had a high fever.  One of my sisters had one when she was 6 or 7 and was put on anti-epileptic medicine, but it was the only one she ever had.  All of that to say that seizure activity runs in the family, so Braxton definitely NEEDS to be tested.  We will return in 2 weeks to have that done. He also recommended that we start seeing the Developmental Pediatrician in the office who can monitor Braxton’s developmental delay.  We already have one, but their office stops seeing him at age 3, so it was recommended we go ahead and make the transition to someone who will follow him for a longer period of time and can note progress from Point A to Point B. So, that’s just one more appointment to schedule. Oh, what fun!

I asked him for the technical diagnosis with regard to the corpus callosum since it has come up in personal circles with other moms looking to find someone with experience with a particular callosal disorder.  The technical diagnosis for Braxton is Hypoplasia, which is a thinning of the corpus callosum.  The entire structure in his brain is present, it’s just thinner than it should be.  There is also Hypogenesis which means part of the structure is missing.  Confusing, I know, which is why I asked for clarification.  I’ve since looked into the National Organization for Disorders of the Corpus Callosum and through further research, I learned that these fall under an even more broad category: Dysgenesis of the Corpus Callosum (DCC) – which means the callosum developed, but developed in some incomplete or malformed way. If you are like Joseph, you don’t want to hear all the technical mumbo jumbo (that’s mom’s specialty), but instead you want to know what does that mean for my kid.  Here is what I pulled from the NODCC website with regard to behavioral expectations.  [Of course, whatever Braxton’s genetic disorder is, will more than likely alter some of these expectations, but at least we have them for point of reference.  Regardless…it’s still a very long, hard road ahead.]

From the NODCC:

What are the common developmental problems that may occur with disorders of the corpus callosum?

  • Behaviorally individuals with DCC may fall behind their peers in social and problem solving skills in elementary school or as they approach adolescence. In typical development, the fibers of the corpus callosum become more efficient as children approach adolescence. At that point children with an intact corpus callosum show rapid gains in abstract reasoning, problem solving, and social comprehension. Although a child with DCC may have kept up with his or her peers until this age, as the peer-group begins to make use of an increasingly efficient corpus callosum, the child with DCC falls behind in mental and social functioning. In this way, the behavioral challenges for individuals with DCC may become more evident as they grow into adolescence and young adulthood.

 Behavioral Characteristics Related to DCC 
This is an overview of the behavioral characteristics which are often evident in individuals with DCC.

  • Delays in attaining developmental milestones (for example, walking, talking,reading). Delays may range from very subtle to highly significant.
  • Clumsiness and poor motor coordination, particularly on skills that require coordination of left and right hands and feet (for example, swimming, bike riding, tying shoes, driving).
  • Atypical sensitivity to particular sensory cues (for example, food textures, certain types of touch) but often with a high tolerance to pain.
  • Difficulties on multidimensional tasks, such as using language in social situations (for example, jokes, metaphors), appropriate motor responses to visual information (for example, stepping on others’ toes, handwriting runs off the page), and the use of complex reasoning, creativity and problem solving (for example, coping with math and science requirements in middle school and high school, budgeting).
  • Challenges with social interactions due to difficulty imagining potential consequences of behavior, being insensitive to the thoughts and feelings of others, and misunderstanding social cues (for example, being vulnerable to suggestion, gullible, and not recognizing emotions communicated by tone of voice).
  • Mental and social processing problems become more apparent with age, with problems particularly evident from junior high school into adulthood.
  • Limited insight into their own behavior, social problems, and mental challenges.

These symptoms occur in various combinations and severity. In many cases, they are attributed incorrectly to one or more of the following: personality traits, poor parenting, ADHD, Asperger’s Syndrome, Nonverbal Learning Disability, specific learning disabilities, or psychiatric disorders. It is critical to note that these alternative conditions are diagnosed through behavioral observation. In contrast, DCC is a definite structural abnormality of the brain diagnosed by an MRI. These alternative behavioral diagnoses may, in some cases, represent a reasonable description of the behavior of a person with DCC. However, they misrepresent the cause of the behavior.

I sure am thankful for that last paragraph, particularly the last sentence.  One of the doctors recently recommended further testing for Autism, which I just didn’t think made sense, and after talking with our therapists, primary care doctor, and asking neuro yesterday, they all said that is an incorrect primary diagnosis to give Braxton.  Neuro said that some of the symptoms he exhibits could end up giving him a secondary diagnosis of something like Autism at some later point in time, but at this point that was not the root of the problem and it had been misattributed.  *sigh* always more questions than answers.  But, good news, I think ?

Waaaaa, he's so big!

Waaaaa, he’s so big!

Baba ma da baba

Baba ma da baba

Sorry for the long post, this is one of those ‘for my own information and if I don’t post it here I will forget or never find it again if I write it down in a safe place.’

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The First Year

After Braxton was born he had a tough time breastfeeding.  At first I thought I was doing something wrong, later we’d learn that he had a poor suck-swallow-breathe reflex which prevented him from being able to breast or bottle feed.  The nurses took him from us and tried to bottle feed him multiple times, but he just refused and would gasp and cough each time they tried to feed him. As a result, Braxton had persistent low blood sugar (hypoglycemia) and he was kept in the nursery.  They brought him to me a couple times to try and feed, but in total I probably saw my son for about 15 minutes that first day.  After a few failed attempts at breast/bottle feeding the doctor came in and forever changed our lives.

The doctor told us that Braxton was having trouble feeding and therefore was hypoglycemic and they were concerned of aspiration (fluid going in to his lungs) because of all the coughing and gasping when he tried to feed.  She also told us they had realized he had a significant heart murmur.  In addition, he had several traits that on their own are no reason for alarm, but since they were all present at the same time, that it was a pretty good indicator of some kind of genetic syndrome.  The concerning traits included: Small head, small deep set eyes, flat nasal bridge, thin philtrum, small jaw, low set ears, short neck, bilateral syndactyly [webbing of pinky and ring finger on both hands], single palmar crease, crossed toes, high muscle tone and the murmur.  Because of all of this they felt it would be best for Braxton to be transferred to the Neonatal Intensive Care Unit (NICU) at another hospital. I didn’t find out until later, that this particular doctor was concerned that Braxton WOULD NOT LIVE more than a couple weeks at most and therefore the transfer was necessary.  At 9:00 pm my son was taken from me and transported to another hospital while I had to stay while recovering from my C-Section.

The next few days were kind of a blur.  Joseph (dad), followed the ambulance to St. David’s Main Hospital to get Braxton admitted.  He would undergo several tests throughout the night and the next morning.  Determined to get out and see my son I was walking around the next morning and released that evening, a couple days earlier than my dr would have liked.  Once I arrived at the NICU, we learned that Braxton was placed on IV fluids since he was not eating on his own, a nasal feeding tube ws inserted for feedings, he underwent an EKG to look at his heart, an EEG because they thought he had a seizure during transport, and a head ultrasound.  The EKG revealed that he did NOT have a heart murmur, but he did have a bicuspid aortic valve and a dilated aortic root. The EKG was read as normal with no seizure activity. The head ultrasound revealed a mild bleeding in the brain, but the doctors were not concerned and said this would resolve on its own.

We learned that they would want to draw blood and send off for genetic testing.  All chromosomes would be tested, but the doctors but a rush to test for Trisomy 13, 18 and 21.  Trisomy 13 is Patau Syndrome – 80% of children with this syndrome die within the first year.  Trisomy 18 is Edwards Syndrome – Half of infants with this syndrome do not live beyond the first week of life. Trisomy 21 is Down syndrome, which thankfully is something I could have dealt with.  But, as you can see the outlook on Brax’s life was grim.  Results for all three came back and ruled out Trisomy 13, 18 and 21.  Later, the rest of the genetic results came and and they told us everything was “normal” with no additions/deletions to chromosomes, and no abnormalities with his X and Y chromosome.  Relief right?! No.  The doctors are still convinced he has a syndrome and tell us we will need to see a geneticist for further lab workup.

A retina specialist came in doing routine checkups on all the NICU babies and examined Braxton.  His exam revealed that Braxton had a bilateral coloboma.  A coloboma is a hole in one of the structures of they eye, such as the iris or retina, where it just didn’t close up correctly.  The specialist said it didn’t seem like Brax would need surgery, nor would he be blind.  He said at most there would be a blank spot in the field of vision, but the brain would compensate and fill in the gap so Brax should be able to see normally.  Unfortunately, we would not be able to really know the full extent of Braxton’s vision until he himself could tell us what he could and couldn’t see. Great, more uncertainty.

As days passed, Braxton started doing well.  He was able to regulate his own body temperature, so he was taken off the infant warmer.  He had a bout with Jaundice, but that resolved will with normal phototherapy.  I was pumping breastmilk for him and he was getting that through the N-G tube.  He finally overcame the low blood sugars and the IV was taken out.  Once he was off the IV fluids, he was gaining weight well, regulating his own body temperature, and maintained a normal blood sugar level, we were told we were waiting on feeding to be able to release him home.

A speech team was brought in to work with Braxton on feeding, but after multiple trials it was deemed that he could not and would not be able to feed on his own for quite some time.  A Swallow Study revealed evidence of aspiration and therefore feeding him by mouth was actually dangerous to his health as it could lead to pneumonia if too much fluid got into his lungs, which of course would be another cause of death for him.  Ultimately, it was decided that Braxton would need a G-Tube for feedings and would probably need it for quite some time, years possibly.  Since feeding was the only thing still keeping him in the hospital, the doctors decided it would be best to go ahead and insert the G-Tube so Braxton could go home and continue Speech Therapy there.

Braxton made it through the surgery to have the G-Tube inserted just fine. He did not have a nissen fundoplication.  He stayed an extra week so the staff could keep an eye on it and make sure the area healed well.  At the end of the week we were finally released.  Braxton’s total NICU stay was just over 3 weeks.  We were sent home with instructions to care for the G-Tube, but also with a number of follow-up Doctor appointments and therapy services.  Definitely only the beginning.

Summary of the Year

I could go into great detail about each and every doctor’s visit, but I’ll just summarize what we’ve learned so far.

We were released with Home Health Services to come in and check on Braxton at home to make sure he was gaining weight appropriately since he was on a feeding tube, so feeding amount had to be manually adjusted and he could not gain weight if we weren’t feeding him enough.  They also continued to monitor the G-Tube site to make sure to teach us how to keep the area clean and proper use.  Home Health was only with us a few weeks, before they decided he was in good hands and they didn’t need to keep coming.

We were also released with a  prescription to start Physical and Speech Therapy.  We started both of those within a month of Braxton being home.  We are currently at twice a week visits from both and Braxton is doing amazing! With Speech therapy, we continued trials of bottle feeding at home.  Once our therapist noted that his suck reflex was much stronger and there was significantly a lesser amount of coughing and gagging with feedings she had us go and get another Swallow Study to again check for the risk of aspiration before we moved forward with bottle feedings.  On September 1, 2011 the MBSS revealed NO aspiration across all consistencies. Yay! We were able to start direct breastfeeding and bottle feeding.  Unfortunately, Brax did not do well with breastfeeding.  The flow was just too much for him to handle, so I had to just continue pumping and offering the bottle.  Over time, Braxton has gotten up to being able to take 3-4 ounces by mouth before he gets tired and can’t eat anymore.  We offer him the bottle first and whatever he doesn’t eat we then put through his g-tube.  He’s currently doing really well and if we can work up to him taking full feeds by mouth hopefully the G-Tube will come out!  🙂

With Physical Therapy, Braxton just continues to improve.  He is now significantly less hypertonic than he was at birth.  He still has some areas of high muscle tone, but doing well with that.  He finally sat on his own with no support at 12 months.  He’s up on all fours rocking and trying so hard to crawl. So far, he’s only scooting backwards (which of course, is developmentally on track), but he’s determined to get it right soon!  He can bear weight on his feet so not any real concern about him being unable to walk right now.  Very mild scoliosis, but there is nothing we can do about it right now.

We also just started Occupational Therapy to help with some of the fine motor skills like grasping, feeding, and dressing on his own.  We’ve only had a few visits with her so not a whole lot to report here…yet!

After our initial visit with an ophthalmologist, Vision Therapy was also recommended.  She helps us with ways to get Braxton to respond to visual stimulus and ideas on how to get him to focus better.  Since we don’t really know the extent of the coloboma, she helps us make sure we are optimizing his field of vision early.  The ophthalmologist reports that the coloboma does not affect his optic nerve, so there should be no significant vision problems in his future, but it’s really difficult to tell at this point.  He also suffers from a clogged tear duct.  Probing and Irrigation surgery was tried on April 6, 2012, but the ophthalmologist found at that even his tear ducts are abnormal.  The upper ducts are either missing or were too small to find, and his lower ducts are very small.  Even the smallest prob was difficult to fit.  We have to wait until he gets older to see if the clogged duct resolves on its own or if inserting tubes/further surgery might be necessary.

Our Cardiologist continues to confirm the bicuspid aortic valve and dilated aortic root.  He’s following Braxton closely, but right now we aren’t concerned with surgery or anything like that.  He says that considering the heart defect, Brax’s heart is working “normally” so no need for concern right now.  The dilated aortic root is still enlarged, but it is growing with Brax proportionately so there is no alarm there either.  We see him every 6 months.

Braxton has also suffered from persistent ear infections.  His Ear, Nose and Throat (ENT) placed PEG tubes in his ears April 6, 2012.  He hasn’t had any since…thank goodness! Ear pain is the WORST for kids.  At Brax’s first visit an in-office hearing test showed concern of hearing loss since Braxton did not respond to any of the sounds.  He had an ABR after the PEG tubes were placed, but there was so much fluid draining the results were somewhat skewed. Initially they showed a significant hearing loss.  The ABR was repeated about a month later and while the results were much better, they still showed mixed hearing loss and so he was labeled as having mild to moderate bilateral mixed hearing loss.  We are still waiting to get hearing aids to hopefully bring him up to normal hearing and therefore finally getting some meaningful speech out of him. Can’t wait!

We just saw an Endocrinologist to check out growth hormones and make sure there are no abnormalities there.  We are waiting to do blood work to see if everything is in order or if there is something further that needs to be done.

Our Gastroenterologist (GI) is following closely to monitor the amount of fluid Braxton needs. At first, Braxton was gaining way too quickly so he helped us adjust feeds to keep Brax on a better growth curve.  He’s currently gaining along the 75th percentile.  We’re still only giving him pureed foods, but since he isn’t getting enough nutrients from that GI has him on Pediasure for all his nutritional needs.  Braxton does not have any signs of reflux or anything.

There is also a Hand Surgeon monitoring the Bilateral Syndactyly.  Thankfully, the webbing of his fingers seems to be easy to correct with surgery.  We are actually having that surgery August 24, 2012, we’ll keep you updated with that!

The Geneticist is still at a loss as to what Braxton’s specific syndrome could be.  We had a microarray genetic test done and that also came back normal showing no additions/deletions to chromosomes.  We will have further testing done later, but for now it’s mostly just wait and see what develops.

Finally, the neurologist is also following us pretty close to monitor developmental delay.  Braxton had a brain MRI in September 2011 which showed that he has a dysplastic corpus callosum.  The corpus callosum is the center part of the brain which sends communication to both hemispheres of the brain.  Dysplasia means that it is thinner than normal.  This could lead to learning delays later, and is also probably why he has the coloboma since it is a midline disorder.  The neurologist says that Braxton seems to be maybe 3-4 months behind developmentally at this point.  The good news is that everyone who needs to be involved therapy wise is already involved and obviously helping him quite a bit.

He also continues to follow-up with his normal pediatrician for routine care and immunizations.

Whew! I think I got everything and everyone.  Sure is a lot that Braxton has been through and continues to go through.  The one thing that makes everything tolerable, is that Braxton is such a happy baby! He is always smiling and laughing.  He very rarely fusses or cries too much.  With everything he’s been through it sure is a surprise that he’s not always a grump.  He is continuing to grow and flourish.  Needless to say, that initial grim prognosis of Braxton not living more than a few weeks has been thrown out the window.  He just had his first birthday and is making significant strides in trying to become mobile.

 

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