Written by Shannon Tambolleo,

Mom of Noah 10, Jonah 7 (EA/TEF) and Lucas 6

I can remember very clearly the first time I ever heard about VACTERL. I was working for a rehabilitation group in New jersey that contracted therapists to the area's hospitals and school systems. The very last case I took before moving back to Massachusetts was to evaluate a four year old boy named David. David attended his town's public preschool and I was told that he was born with a rare birth defect of the radial bones of both arms. He had been seeing an OT in the school system as well as additional outpatient OT services. His insurance company had decided that he no longer required outpatient skilled services and were withdrawing further coverage. The family requested more school based OT but the school system felt that his condition was medical rather than educationally based and was refusing to provide additional services there as well. David's parents were looking for an independent, second opinion to present to the school board.

I'll never forget meeting David the first time. He was completely missing the radial bones and thumbs of both hands and his forearms were only about half the length they should have been. By the time I met him, he had already undergone eight reconstructive surgeries. Several months before, he had finished a procedure using the Ilizarov technique where both index fingers were slowly repositioned via traction over a long period of time to create opposable "thumbs". Plans were already in place to do the same procedure to lengthen both forearms as well.

David’s mother educated me about VACTERL and added how grateful she was that David did not have additional serious issues in other areas, particularly the cardiac and respiratory systems. I remember being in awe that this woman, in the face of such daunting prospects, could be so calm and thankful for anything! And David; himself, was simply an incredible little person. I say "little person" and not "little boy" because when you looked into his eyes, you did not see a little boy. There was a quiet sense of knowing about him and he simply burned with determination.

I did my best to make a case to increase David's school therapy but never got a chance to find out what the final decision was before the move back to MA. I was pregnant at the time with my first son and throughout the pregnancy, I would make the technician double check during every Ultrasound that the baby did not have any indication of VACTERL. Happily, he did not and was born without complications. With the enthusiastic, and yet hectic, events of new motherhood, my fears about VACTERL soon faded.

On June 22, 2003, that is when the world of VACTERL was reintroduced to me. I walked into the NICU at Children's Hospital Boston after giving birth to my second son, Jonah just hours before. Dr. Russell Jennings was by Jonah's side and informed me that he had EA/TEF and would require surgery to repair it that day. He also told me that this birth defect is frequently associated with "an association called VACTERL which can affect several different organ systems" and he will be undergoing several more tests to determine if there were any other complications other than the EA/TEF.

I think I kind of chuckled at that point in the way that one does when faced with a situation that is simply too bizarre to be true. I remember Dr. Jennings looking at me, askance a bit, before leaving to get ready for the surgery. Then the momentary hysteria wore off and reality set in. As I approached Jonah's crib, I could have sworn that I saw David out of the corner of my eye. I also noticed that there was this gentle, golden light coming from inside his crib. I assumed it was from some type of heat lamp but when I looked down on Jonah, I realized the light was coming from within him! I still don't know if anyone else noticed this light or if it was meant just for me but as I looked at him that first time, my mind understood that he had a long, arduous road ahead of him. But my heart knew that he will be okay.

Dr. Jennings was able to perform a primary repair of the esophagus and close the fistula that day. He was subsequently cleared of anal, cardiac and vertebral abnormalities. He did have hypospadias and thumb hypoplasia of both hands. I silently thanked every deity I could think of that Jonah would not have to live through David's fate.

Jonah is very lucky in that his esophagus functions amazingly well and has only had one obstruction involving an errant hot dog which required surgery to remove. However, he does have a fairly serious case of tracheomalacia which continues to be an issue to this day. As an infant and toddler he had regular "blue spells" whenever he cried, laughed or ate that would only abate with a modified rescue breathing technique. Nursing also seemed to almost force the small airway open therefore, I very quickly abandoned all modesty whenever I saw Jonah turning that horrible grayish blue color. Much to the general public's dismay.  Jonah, also cannot not handle a virus and a simple case of the sniffles would land him back at CHB in respiratory distress and he remained on oxygen at home.

Finally, Dr. Jennings performed an aortopexy when he was two and the change was remarkable! He could laugh and eat and breathe and started to run and play with his brothers for the first time. He did so well in fact, that he experienced a shocking growth spurt and unfortunately slipped the aortapexy connection about a year later. With this, his respiratory symptoms returned.

Jonah is now seven and continues to battle with URI's that require hospitalization (about thirty to date) but thankfully, does not have blue spells anymore and has not needed home oxygen. As Jonah grows bigger and stronger, his illnesses do not last as long and are getting less frequent. His thumb hypoplasia does sometimes interfere with his writing endurance at school but his teachers are doing a fantastic job with him. His hypospadias was repaired as well, at age one. He is now a goalie for the same hockey organization that his brothers play for and is relishing being part of a team. There was some concerns about him spending so much time in the cold air but my husband and I have always held to the belief that we should not raise him in a "bubble". I'm positive that Jonah is better for it.

I am thankful for Bridging the Gap as I would have given anything to have had the chance to speak with another family going through similar circumstances. I hope that someday, we can be an organization that is strong enough so that every family will have the support they need.