Our son has a complicated medical history, but I will try to keep it brief for this initial conversation. No significant medical history for mom or dad.
Luke was born 2007 Normal pregnancy. Full term. Sister born 2004 with no issues.
Immediately, Luke had a wetness in his throat and seemed to struggle to feed. We went home from the hospital feeling there was an issue. A week after birth, we randomly caught an episode of SVT at the pediatricians office during an exam for eye discharge. Luke was admitted started propranolol. He continued to struggle to feed. We switch formulas and tried Prevacid based on appts with a peds gastroenterologist. At 5 weeks old, we were admitted under failure to thrive. The NG tube worked and we left the hospital in Nov 2007 with a PEG tube and no diagnosis. MRIs of his brain were normal at 3 months. We felt a Chiari malformation was possible but they did not find one at that time.
We did a tremendous amount of online research and went to Atlanta for second opinion. Multiple swallow studies were done and a narrowing at C4 was detected during barium swallow studies. Our son did better with dilations of the esophagus but the benefits faded within days of the procedure. We were diagnosed with Cricopharyngeal achalasia.
The gastroenterologist referred us to Cincinnati Childrens Hospital. We met with a team of Drs to review Luke's history. A FEES study was done as well as esophageal manometry. We decided to proceed with a myotomy.
The myotomy was successful for 6 weeks. The benefits subsided quickly and we were back to square one.
We were referred to JHopkins for feed therapy. It was determined this wasn't a good fit. We ended up at Milwaukee's Childrens Hospital at age 3. Luke did well with therapy and at age 5 we removed the feeding tube. His heart condition was under control and our cardiologist decided to take him off of the meds. Luke was progressing well.
Aug 2013 at 5 1/2, Luke complained of a elevated heart rate. We put a monitor on him and caught an episode. We went to Atlanta for an ablation surgery in Nov 2013 and the problem is resolved.
In April 2014, Luke started to "fall" more than usual. A few examples: He was sitting on a piece of playground equipment and "zoned" out and fell. He stood up from his desk and fell. While riding his bike he fell and didn't really know why. He never has blacked out or had convulsions. Due to the frequency of these episodes and our pediatrician referred us to a neurologist. He had a sleep deprived EEG and an office Neuro exam and both were normal. The neurologist felt that he was having atonic seizures. He put us on trileptal 3ml twice a day. At this point, this is Luke's only medication. With seizure medication, he had roughly 2 more episodes where he fell for no reason. As I mentioned, he has never "passed out" or had convulsions associated with these episodes. We went for 6 months with little activity.
October 2014, Luke suggested he had an issue swallowing. We have not had swallow studies in years so we went to Jacksonville FL for a traditional barium swallow. The narrowing remains at C4 with no new findings.
He is in speech therapy and OT. His speech is 5yr level and OT shows some muscular weakness in his upper body. Bilateral weakness more distally than proximally. He is weaker than a normal 7 yr old but not significant. Weaker as you move farther away from the trunk and he uses his trunk strength to compensate.
Recently in the last month, Luke has been complaining that his leg is going "numb" and therefore leading to falls. We went to the neurologist who preformed an office exam and felt that he was fine. We consulted our pediatrician the same afternoon who ordered an MRI of the brain and spine late last week. The initial MRI showed and issue from T4-8. The following day we had an MRI with contrast for the brain, cervical, thorax and lumbar.
A syrinx was found (2mm max diameter) in from T4-T8. We consulted our local neurosurgeon today and we are in need of a second opinion.
His current MRI scan are all clear other than this issue and our neurosurgeon classified this as an idiopathic syrinx.
In the last 2 weeks he is having back pain, numbness and tingljng sporadically in his hands, legs and feet.
Help? Thoughts and suggestions greatly appreciated!