From the beginning. . .

Thomas is now 17 months old and rapidly approaching the 18 month mark.  So, I will do my best to get you caught up to where we are today.  Thomas was born April 29th, 2010th.  It was a normal pregnancy with no complications.  He did decide to make his entrance four weeks early which makes him borderline premature.  For all intents and purposes he is not considered premature and has been kept on the normal scale.  It hasn't made much of a difference really as milestones have been hit in a timely manner and while he is small, his ratio has been the same and his BMI has maintained until recently.

The birth of Thomas did have some issues although all considered minor.  During labor his heart rate would drop several times and the nurses would come in and adjust me, rolling this and that way in an effort to help.  It would help briefly but it was quite intense for a good hour or so.  Finally it was time and he came out sunny side up.  This is important because this is the original reason given to me for his loss of hearing.  He failed two hearing test upon birth in the hospital.  He did need oxygen when he first came out, but soon peaked up and gained composure.  He was cleared and never had to go to the NICU.  He was 5 lbs 9.5 oz and 17.5 inches long.  My water broke at 10:45pm and he was born the following morning at 8:24am.  He did have jaundice but was released as he was eating well.  Upon release from the hospital we had to return the following day for a jaundice test and a cystic fibrosis test.  Jaundice was under control and he tested positive as a carrier for CF.

In the hospital I was informed that the hearing loss was probably due to fluid in the ears from birth.  There was no reason to worry, the ears are small, the equipment is difficult to get accurate, etc.  We had a follow up hearing test with an audiologists with Children's Healthcare of Atlanta on May 10th.  He failed.   We were then off to Scottish Rite for an ABR test for his hearing on May 26th.  This too also showed hearing loss.  We were then referred to Dr. Sipps who is a Pediatric ENT on June 9th and he checked his ears and wanted to wait due to his age.  On July 14th we met with Dr. Sipps the second time and planned on placing tubes in his ears in an effort to prevent any developmental delays due to hearing loss.

At Thomas' four month check up, the pediatrician and I discussed and noticed some things with Thomas that seemed a bit odd.  As a mom you try not to compare one child to the others, but I had a feeling something was different.  I was concerned about his eyes and how they seemed to look crossed still at four months.  He also held one arm up a little more than the other and other oddities.  From there we were referred to a neurologist and a pediatric ophthalmologists.     He had a CT Scan on his head on September 15th and an EEG on September 16th, both of them were performed at Scottish Rite.  The results showed no findings of seizures which was the concern.

On September 20th, Thomas and I headed to Pediatric Atlanta Outpatient before the birds wake up to have his first set of tubes places in his ears.  They were wonderful and everything went well.  He had the tubes places within 15 minutes and then they were able to perform a complete ABR test while under sedation.  The test showed they were clear with minor fluid still left but they were confident that would clear as the ear healed.

September 29th was our first appointment with a Pediatric ophthalmologists, Dr. Lipsky.  He held Thomas in his arms and swung him around watching him intensely the whole time and sat him in my lap and said he has Duane Syndrome.  Then he proceeded to tell me to feel free to "Google" it and call him if I had any questions.  He gave a brief description of it and explained the eyes not having the ability to look outward, but other than that come back in six months.

I did "Google" it and then I started looking for another doctor.  I wanted a confirmation that that was indeed what he had and what did that mean for MY child.  God answered this prayer when the director of my child's preschool came to me with a business card of a man who specializes in this type of thing and has families travel from all over Georgia to see him.  So, I did.

October 5th we saw the Nuerologist, Dr. Frazier.  She too held Thomas in her arms laid him down on the table moved him around.  She diagnosed him with torticollis and hypotonia (low tone).  She suggested physical therapy. 

October 12th, we see Dr. Marc Greenburg, pediatric ophthalmologist.  He was able to confirm the Duane Syndrome and provided me a detailed explanation of what it was, how it was developed and the possible prognosis.  Since Thomas was still so young at the time his best suggestion at this time was let's wait and see how his body compensates and what his eye muscle does.  I felt much more confident with him and upon more research definitely know that he was a good move.

We did move forward with the physical therapy recommendation but in an effort to help with costs we used the Georgia program "Babies Can't Wait."  I met with the director, they came out and evaluated and agreed to provide PT for Thomas for the torticollis.    The initial meeting was on November 08, 2010 and he was released from this program in January 2011.  The PT said that the muscle in his neck causing the torticollis was much better and that he is only leaning in the relaxed state.  They assured me he would eventually overcome this and it was no longer an issue.  When he started this therapy he was just over six months old. 

December 16th, we had our first home visit with a representative from Georgia Pines.  They are a Parent Infant Network for Educational Services.  They basically help families with children who having hearing and vision difficulties.  I thought this would be great for us!  However, they to came for a couple of months and then cleared Thomas as being fine and capable.  I believe this has more to do with not understanding his issues and his needs because he didn't fit into their box.  He did have good vision and with the tubes he could hear.  We were released from this program in July 2011.

As for this year, we have had our well check ups with our pediatrician and regular appointments with the ENT.  We only had issues with his ear the end of June that appeared to clear up on their own.  But upon further review by the ENT, one tube had already fallen out and the other looked out of place.  So, we made plans to replace the tubes with new ones as well as remove his adenoids.  This procedure was on August 19th and he did great.  We haven't had any complications so far and the ABR was difficult to get but he did great on the behavioral hearing test.  We go back in a couple more months to get them rechecked.  At his 15 month check up Dr. Chin recommended a physical therapy evaluation due to his neck still leaning quite a bit.  She also discovered that he did not have a right testicle or at least she was unable to locate it so we got a Urologist referral.

We went to the urologist, Dr. Elmore,  on October 5th and he was very warm and loving to Thomas.  It was nice. He is also extremely knowledgeable.  He believes he located the testicle but it either developed and then shrunk or it never developed.  He won't know for sure without surgery.  So, I am currently waiting on his scheduler to call to set up this surgery.

On October 10th we had the full physical therapy evaluation and learned a lot about our baby Thomas.  His neck is quite off.  His range of motion is extremely limited especially turning to the left and side bending the right.  These are our first focus at this time.  He may or may not need a tot brace to assist with his neck, surgery may be something in the future for the muscles, and they are requesting an x-ray in case he has skeletal issues in his neck as well.  He also appears to be off centered and is unable to left his head up and straight back.  She also noticed difference between the right side of his body and the left where things were off centered and not symmetrical.  She also noted his low tone being quite noticeable.  His grip with his hands is not as firm as it should be.  His feet are flat, turn outward and roll in; she suggested shoe orthopedics to help with this by lifting up his arch.  This would also help improve his posture.    Taking all of this in, I realized that there really is much more going on with him than just DS. 

In researching more about Duane Syndrome now that I am more aware and know more, I found the following: Duane syndrome is usually an isolated finding (approximately 70%), but may be associated with other malformations^1,3,5,6. Major anomalies associated with DS can be grouped into four categories: skeletal, auricular (having to do with the ears), ocular (having to do with the eyes) and neural (having to do with the nervous system). DS can also be associated with other well-defined syndromes. These include Okihiro syndrome (Duane syndrome with radial ray anomalies)⁷, Wildervanck syndrome³, Holt-Oram syndrome⁸, Morning Glory syndrome⁶, and Goldenhar syndrome⁹.

Of the four categories, we have definite findings in three.  So, today I spoke with our Pediatrician and we discussed going to a Pediatric Neurologists to discuss the issues at hand.  It may be that they can determine the origin of the low tone and determine if this is something that can be improved or something he will always have.  It concerns me that there may be other issues lurking waiting to surface.  I want to be more proactive than that.  So, I am willing to have an updated CT Scan and/or MRI at this time if we can determine if there may be more issues we aren't aware of yet or why he has some of the ones he has now.

We also discussed the possibility of seeing a Genetics Counselor.  We already know that DS is a genetic issue and was somehow changed in his DNA that caused it.  It is also the underlining cause for the other issues since they are all considered to be congenital neuromuscular diseases.  She said that most genetics counselors can determine if there are any additional syndromes in addition to the Duane Syndrome and that may give us a better answer of what we are dealing with and what we should be looking for and what his possible prognosis would be.

So, here goes my disclaimer, I am typing and I remember and not all the names of things may be correct in medical terms, etc.  I am learning as I go which is on the fly and after emotional appointments.  Now I finally have it all in one place the story of how we got on this journey.  My goal is to use this as a way to keep a record of this journey and to share it with those of you who have come to know and love Thomas.  Maybe someone else whose child is suffering will read this and relate or find comfort.  Maybe a specialist who in interested in rare diseases will come across this and take on his case or have some sage advice that I need to hear.  The purpose of this blog will show itself in due time, but I feel that I was led to write it.  I never claim to have good grammar, be a good writer, or be able to articulate words well.  But this is just a mom writing about her son and our medical journey of Duane Syndrome and Beyond.