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.

Check Up with Neurosurgeon

Its always such a shock away from our normal routine when I have to shift things to allow for big appointments such as the one we had today.  Changing and moving things around to make it work for all and the nerves and stress that rise in me as my mind begins racing.  When we are going along without these appointments we seem almost 'normal'.  I use that word very loosely! I normally take things a week at a time, so since Monday my mind, body and spirit has shift to thinking about the appointment.  Praying for wisdom for the doctors and technicians, praying for my son and for myself and of course asking others for prayers as well.  I am continually fighting to ground myself in my Faith and rely on God, its all already there and with him yet the mom in me can't help but be concerned about if our near future is going to change or shift or do we have more time.  That's is basically how I think about it.  There is always the chance of a real miracle that there will never be any major issues in his life, but honestly I don't feel that is realistic given the cards we have been dealt.  Good news, I survived and so did Thomas.

Today was overall a good appointment.  The initial weight wasn't bad but then they wanted his blood pressure and that was the first thing that upset him.  So it was a little high since he was quite upset and they had to hold him.  Then I had to pin him down in an attempt to get his height.  It doesn't seem like either has changed much since our last pediatric appointment in October.  He is still wearing 18 month clothes.

They took x-rays of his neck with extensions.  I swear it is extremely painful for him, not just uncomfortable as it would be for us.  When Thomas eats, gets upset, etc. his shoulders go up.  We don't know why but they do.  He was so distraught as he was pinned down on that cold hard table that they were tight and really up.  He was screaming so hard that not a sound was coming out of his mouth.  The technician is almost yelling at me to pull harder and to get his shoulders out of the shot so that they can get his neck.  UGH!!  I wanted to scream, or cry or just yank my baby and leave.  But, nonetheless, I tried my best to pull my baby's arms and shoulders down while he screamed and fought me.  We had three sets to do like this.  I am not sure who was relieved more when they said they were good enough, him or me.

The doctor came in and did an external check of his back, I will get back to that in a minute and told me that his neck had not changed since the last time in August.  There is still good movement between the two vertebrae in his neck that aren't fused and it has not increased or began to slide.  So his spinal cord is still safe.  *sigh*  He said the fact that he is little and not growing much has helped from not putting more pressure or strain on the growth of his neck or spine.  So, we are stable and are to come back in six months to do this again.

As for his back, well, I requested that he do x-rays of his back to check up on his scoliosis and kyphosis.  The NP did an external check of his spine and the dr did as well.  He suggested we not subject him to more x-rays today that if he had scoliosis it was minor.  OK, so here is my mommy vent!!!!  He has it!  Last March it was at 27 degrees and he showed no kyphosis, now almost a year later he definitely shows kyphosis and the PT suggested another round of x-rays.  The neurosurgeon focuses on his neck and the orthopedic surgeon focuses on his back.  I don't understand why they can't do the same damn thing!!!!!  So, we are do for our follow up with the ortho in February anyway so I suppose that is when we will get the update on his back.  I am also debating on going back to the Shriner hospital for an update but I don't want to duplicate what we are already doing.  I am not sure if I should have pushed more today or not.  My resolution is that once I do have updated x-rays of his back I will send a copy to the neurosurgeon for his records.  If anything is there of concern, at least he will be aware.

My sweet, sweet Thomas.  From the day he was born he has really been special.  I love all of my boys so much and in different ways.  It is hard to explain but people are just drawn to Thomas.  When we are out, people can't help but to comment about him or talk to him or high five him.  I was laughing about it with my friend and she mentioned that he has a special purpose on this earth and he is already starting.  I believe it is true!!  Its amazing to me how someone so young can be so powerful in touching others, but he can.  With Christmas just passing, it makes me think of Mary and Jesus.  Not that I think of myself as Mary or Thomas Jesus at all, but the magnitude of what she must have felt as his mother.  I honestly want to share Thomas with all of you as much as I can.  I want you to experience his funny expressions, his little personality and even his defiance that he shows.  There is so much wrapped up in that little body of his.  I always want him to be lifted up and surrounds my love.  I want him to always be positive, think positive and have Faith in our Heavenly Father.  These I feel are the tools he was born with and the tools that he must always be reminded of through his journey with us.

Thomas was worn out on the way home today.  My sweet boy.

James 1:12

Blessed is a man who perseveres under trial; for once he has been approved, he will receive the crown of life, which [the Lord] has promised to those who love Him.

New Year, New Appointments

We had a wonderful Christmas together with family and really felt very blessed.  The boys got a little sick and of course Thomas ended up with a horrible cough and his ear drum burst in one ear.  Luckily with some medicine he was able to recover rather quickly and we weren't on breathing treatments for a long time.  This is HUGE for him since it seems to be the norm rather than the exception. 

Thomas has been really growing in leaps and bounds. . .  just not physically.  He is learning so many of his letters and numbers, colors and shapes, and all of those wonderful things that two year olds learn.  He has become quite the chatter box and likes to talk, A LOT!  Its cute most of the time.

So, this month we have two rather large appointments that I would love to have your prayers and well wishes for.  The first is this Thursday with our appointment at the Spine Care Clinic.  Last visit he was particular interested in the mobility between C3 and C4.  It is really the only place in his neck that is currently not fused and allows him to have mobility.  However, he is concerned that the vertebrae will begin to slide rather than move properly due to the fusion above and blow that area.  We will take more x-rays on Thursday with movement in an attempt to see how the bones are moving.  My prayer is that all is stable and his body is moving in a manner that is healthy to him.

The second appointment this month is January 29th, when we have our follow up appointment with our Geneticists to go over the results of the Exome Sequence study performed by Baylor University.  I never really know what to expect going into these appointments.  The concept idea was to be able to take all of his anomalies and issues into one package and give it a name per se.  Or at least determine a name for what caused this and all of the possible related issues in an effort not to miss anything that could benefit by early intervention.  We shall see what this appointment will reveal in due time. 

That is where we are at this time.  We are still continuing with all of therapies and will be making his follow up appointments with other specialists and his pediatrician in the coming months.  Hard to believe we do this every six months now, but it could be worse.  I am thankful that Thomas is happy and at this point is able to play and do all that he wants to do without restrictions.

Thank you for always thinking, praying and keeping up with us.  It is always felt in my heart and I am so appreciative of you all.