Townes-Brocks Syndrome (TBS)

I really wanted to title this blog "God hid peanut butter in my van."  No joke!  I really wasn't sure of my expectations for today.  I always get a weird feeling in my stomach on appointments such as these.  Am I going to be disappointed? Let down?  The truth is that nothing has changed, he is still Thomas and he still has the same issues he has been having.  But to label it, diagnosis, name it adds a whole different dimension to it.  As a mother of child with unexplained structural, congenital issues when you first learn of them you want answers.  You want to define what it is, what caused it and most importantly what can I do to fix it.  As time goes on you learn that some things can't be defined, causes may never be known and there is nothing to 'fix'.  You grieve, you get angry, you ask questions and search for understanding, and you pray.  Today I was in a bit of a fog.  I got to the appointment with the geneticists one hour early.  Yes, that's right.  I took a 2 year old to an appointment on the other side of town and was there one hour early with no lunch.  Thomas had eaten at school and wasn't hungry and I wasn't.  I thought we will do this and then eat when our nerves are better.  But then we ended up waiting for one hour and then having our one hour appointment.  Oops.  Good thing Thomas didn't mind.  I also realized while we were waiting that I no longer had my van keys with me.  I sat in the waiting room very calm though thinking to myself , ' oh well, if the van is still there when we are done then so be it, if not we will figure it out.'  I didn't realize I was that early until after we had waited forty five minutes which gave me no time to grab food or check for my keys.  Fog.  Then we are called back and I start hearing genetic mutation, variant, VUS, SALL1, cannot dismiss, cannot confirm, bell curve.  Wait! Bell curve?  I know what that is.

She explained to me the results to the Baylor University Exome Sequence Study performed on Thomas' DNA and that of mine and my husband's.  They found a variant mutation of gene SALL1.  This mutation has been linked to Townes-Brocks Syndrome.  In there study they found that I was positive for the same mutation but my husband tested negative.  So basically in looking at the findings of Thomas' anomalies in comparison to the anomalies in Townes-Brock Syndrome she cannot dismiss this as a possible diagnosis.  In fact, she is writing in her report that this is indeed the result of her findings and this is his clinical diagnosis.  Official Literature Townes-Brock Syndrome
This link will send you to the real information collected by the National Center of Biotechnology Information if you would like to read more, it is not the google information or the wikepedia information as these can most times be misleading or at the very least terrifying.

To compare Townes-Brocks to Thomas I have created the following:
Eyes: So far, no vision loss
Kidneys: Thomas has had an ultrasound and all is well at this time
Hearing: Thomas has had hearing loss since birth, cause not yet determined, tubes are currently in place and working
Heart: Thomas has had an EKG and all looks well, but he does have a heart murmur
Gastrointestinal: Thomas has had acid reflux and bouts of constipation, but nothing to require a specialists
Face: Thomas had the infamous ear tag at birth which later fell off and has additional cartilage in the other ear  (this sounds small, but that dang ear tag is huge in the health world and these syndromes and its relation to hearing loss)
Lower extremities: Thomas' toes 4 and 5 on each foot curl and lean in quite a bit but again just a characteristic
Genitourinary: Cryptorchidism, we had surgery last year
Central nervous system: Duane Syndrome both eyes, and as for the behavioral issues listed well, I think it will take a lot more time before we know if he has any additional issues.  Some of the things I have read explain that behavior will mimic such things as ADHD and alike.  We will deal with those crossroads when they come.  Also, listed in this category is Arnold-Chiari malformation type I, which hasn't been completely ruled out in my opinion for Thomas.  His MRI last year showed characteristics of Chiari but again I think it will be more prominent as he ages.
Skeletal: This one we blow out of the water, it states fused ribs and mild vertebral anomalies.  Thomas has fusion in all cervical vertebrae except between c4 and  c5 and has butterfly vertebrae and hemi vertebrae throughout his spine resulting in scoliosis and kyphosis at this time.
Endocrine:  Congenital hypothyroidism - this term was new to me but definitely something for us to explore.  I will bring this up with our Pediatrician as we have already been discussing the possibility of an Endocrinologists based on Thomas' small stature.
Growth:  Seems redundant but it was listed as a separate category stating postnatal growth retardation.  Upon researching further this is simply failure of an individual to develop at a normal height and weight for their age

So as you can see for yourself, it truly is hard to dispute that this syndrome would be the umbrella syndrome overshadowing the cause of his anomalies.  The only other thing I can think of that wasn't listed was his hypotonia (low tone), which is easily detectable and something that could possibly be related.


Baylor has only been conducting such testing to the public for a year and has a limited database.  As the program continues and more data is collected, it is possible that they will find this to be a true diagnosis or it could possibly lead us to another one.  Either way, we are done.  This was the end of this path with the geneticists as this time. 

My purpose in this path was to do what we needed to make sure that we were not overlooking anything that we might have missed or anything that we might need to prepare ourselves for in his future that I was currently not aware of.  The key to doing our best for him has been early intervention.  I was hoping we would find a syndrome more well known with support, walks, research, anything.  Instead, I have learned that less than 200 people in the world are diagnosed with this syndrome.  It has only been defined since 1972.  So we went from rare to even more rare.

As the information was swimming in my fog, we went to the van and opened the door to find my keys sitting there.  Thank goodness I had not locked the van this time.  I also saw laying next to my keys a large jar of peanut butter.  I had purchased said peanut butter about a week ago.  I paid $5.19 plus tax for that peanut butter along with some other items while shopping with my three boys.  I was so frazzled that when we got home I could not locate the peanut butter. I made everyone search for the peanut butter and it was no where to be found.  I just knew I had left it at the store.  I checked my receipt and I had paid for it.  But I smiled today as I saw that peanut butter laying on the floor.  I believe now that God was waiting for the right moment to show me he was with me all the time.

I do wish there was a way to 'fix' it, but there isn't.  As a mother to Thomas, I feel as though I will instead be thankful for all that I have been given and all that is left to receive from him.  I will intervene when necessary and step back accordingly.  I know that God created him and placed him in my care as a precious gift and as a gift to you.  But I will honestly admit, that as his mother I will also always be holding my breath with each milestone and each appointment with prayers that pain and change will not harm my son.

Matthew 18:10 “See that you do not despise one of these little ones. For I tell you that in heaven their angels always see the face of my Father who is in heaven.