Caleb at 3 years old

Caleb and Oliver November 2006

Caleb at 1 Year Old

Caleb at 9 Months

Our journey began on my 26th birthday. My husband and I were going to have a baby. My pregnancy had been going great other than some pretty bad morning sickness. I was feeling better then I’ve ever felt in my life.

Things took an unexpected turn on the Thursday before Mother’s Day 2001. I was 20 weeks pregnant and we were having a Level 3 ultrasound done by a perinatologist. My OB thought it was a good idea because one of my elective blood tests came back slightly abnormal. I was not worried at all. My husband and I were young, happy and healthy. The ultrasound was exciting for us, it was our first peek at our beautiful baby. We were overwhelmed by all that was going on, but when we heard those words our world changed completely…”We think there is an abnormality with the baby’s heart."

After consulting with more doctors, they were sure that our baby had a heart defect. Originally they thought it was “Double-Outlet Right Ventricle”. We were encouraged to see a pediatric cardiologist, and we did. We were also encouraged to have more invasive tests done to see if our baby had any more life-threatening “birth defects”. Everything looked okay from the tests and the doctors were pretty confident that our baby did not have any other more serious “birth defects”. However, when we saw the pediatric cardiologist he diagnosed our baby with a pretty rare variation of “Tetrology of Fallot with Absent Pulmonary Valve Syndrome”. It was explained to us that in addition to the four defects associated with TOF, our baby was missing his pulmonary valve completely. This meant that there was too much blood going to his lungs causing a lot of pressure in his pulmonary artery, making it very, very large. The large pulmonary artery was putting so much pressure on our baby’s trachea that the cartilage could not develop fully so our baby also had tracheomalacia (floppy cartilage). This condition was thought to be so severe that it was expected his airway would collapse completely after birth. And it was very possible our baby could be on a ventilator for as long as 2-3 years waiting for the cartilage in his trachea to get strong.

With all of this information we did the best we could to prepare ourselves for the birth of our very special baby. We changed the hospital that I would give birth at, changed my OB. We had monthly, then weekly visits for echocardiograms with the pediatric cardiologist. We toured the hospital. We toured the N.I.C.U. We toured the P.I.C.U. We met with the neonatologist. We met with the pediatric cardiothoracic surgeon. And we read everything we could get our hands on. After all of this we were still not prepared.

Our son Caleb came into the world very naturally on September 30, 2001 at 7:25 PM. Caleb was full term, a healthy 6 lbs. 15 oz and 19¼ in. long. He tried to cry but was whisked away by one of the 20+ doctors in the room. Caleb was evaluated and intubated immediately. My husband and I were allowed to hold our new son for a few seconds before he was taken to the nursery for further evaluation, more tests and more tubes and lines to be put into his tiny body. Caleb was well enough to be taken to the P.I.C.U. Everything seemed to be just as the doctors had expected in utero.

Caleb was scheduled for open-heart surgery on his 5th day of life. In surgery they would close Caleb’s ASDs and VSDs and try to narrow his pulmonary artery in hopes of relieving pressure on his trachea. This would hopefully allow the cartilage to develop and become rigid enough to stay open on its own. Caleb’s surgery and recovery went very well. The tracheomalacia was still severe. After 2-1/2 weeks and many failed attempts to wean him from the ventilator failed, Caleb was scheduled to have a tracheostomy put in at 1 month of age. Caleb’s medications were tapered off aggressively and during this time he became a completely different baby. I asked the doctors to try to extubate Caleb one more time before the tracheostomy. The doctors were not hopeful but I insisted. They finally agreed and to everyone’s amazement, Caleb did very well. For the first time we finally saw our son’s face with no tubes. He was 3 weeks old. He was beautiful and breathing on his own. After 24 hours of breathing on his own, the doctors were comfortable enough to let Caleb go to the step-down floor. Caleb was monitored for the next week. Finally, at 1 month of age and, ironically, the same day he was scheduled to go back to the OR (for the tracheostomy), our son was coming home with us.

Caleb was on Lasix, digoxin and baby aspirin. We took him in for weekly weight checks. After being home and enjoying family life for 2 weeks, Caleb had a “blue spell”. He had another one a week later. He was rehospitalized and more tests (i.e. Ph probe, barium swallow, E.E.G., bronchoscopy and laryngoscopy with biopsy) were done. The doctors found no answers to the “blue spells”. And thankfully they have not reoccurred.

Caleb has been doing very well, better than anyone expected. He still has no pulmonary valve so there is still pressure in his pulmonary artery. He has some tricuspid valve regurgitation, his heart is still quite large and there is hypertrophy of his right ventricle. Some of his more minor “birth defects” are torticollis, positional plagiocephaly, polysyndactyly, and farsightedness with bilateral astigmatism to name a few.

Caleb is a very happy 17 month old. He has come to accept his many appointments with numerous doctors. And he has come to enjoy his multiple weekly therapy sessions.

I would like to give our thanks to a few people. First I want to thank all of our family and friends for their prayers, positive support, and the courage to continue to get through these trying times. Second I want to thank The Cleveland Clinic Foundation: the dedicated P.I.C.U. staff, from the R.T.'s to the nurses to the doctors, the talented Dr. Mee who performs these miracles everyday, the compassionate Dr.Younoszai who continues to make every effort to explain things in a caring and comprehensive manner. A special thanks to all of the professionals everywhere whose efforts help to give Caleb and all the other children like him the healthiest and most normal life possible. Last but not least I want to thank the C.H.I.N. family for providing much needed support.

I could not imagine any greater joy than being Caleb’s mother. Life is busy taking care of a child with so many medical needs. The hard times can be very hard but the good times are irreplaceable.

December 2006 Update

This update is long overdue. As you all know, life can get very busy. Caleb continues to do better than expected by his doctors. He walked at 22 months and has continues to be a little behind developmentally.

After a winter with a lot of upper respiratory infections and pneumonia, we decided to look a little closer at Caleb’s immune system. Tests showed a low T cell count. This eventually led to a diagnosis of DiGeorge Syndrome. Despite the fact that Caleb has been tested for the genetic deletion associated with DiGeorge Syndrome three to four times with negative results each time, he was given this diagnosis based on his clinical findings. We learned that only 85-90% of people diagnosed with DiGeorge Syndrome have the “typical” genetic deletion.

At Caleb’s cardiac appointment in January of 2005 everything looked well and it was thought he could wait another 5 years or so before placing a pulmonic valve. He was having some minor issues that were concerning to me. The doctors were not concerned. After continuing to question some of Caleb’s symptoms, his doctors could not determine if they were “pulmonary” or “cardiac” related. A CT scan of his airways was ordered in the hopes of finding the cause of his symptoms. Needless to say, in March of 2005 when we reviewed Caleb’s CT scan results with the cardiologist we were shocked by what he said: “Caleb’s airways are being severely compressed by his pulmonary arteries. We need to schedule surgery within the next six months.” This news came just as my husband and I were beginning to feel comfortable with the idea of giving Caleb a sibling.

We scheduled surgery for July. We were comforted by the fact that Dr. Mee would be performing this surgery also. The plan was to narrow Caleb’s pulmonary arteries again and finally put in a pulmonic valve. Dr. Mee successfully narrowed the arteries but unfortunately there was not enough room for the pulmonary valve. So Dr. Mee created a monocusp valve as a short term “fix”. Physically he did very well with recovery. However, Caleb’s anxiety was so high that we limited his room to minimal contact. He spent just one day in the PICU, then to the Step- Down and was discharged home at one week post op. Recovery continued at home. Physically Caleb was doing very well, but emotionally he was having a very difficult time. Caleb was having horrible night terrors, waking six to ten times a night. He asked if everything hurt. There was constant hospital play and insane tantrums from a child who had never had a tantrum in his life. This was something my husband and I were completely unprepared for.

After speaking with the cardiac team we learned that these symptoms occur frequently with children after open heart surgery, just as it does with adults. Having a diagnosis of Post Traumatic Stress Disorder enabled us to get Caleb some much needed help. In Play Therapy Caleb slowly began to work through these issues. He continues to make progress with this.

Caleb has been healthy enough that he has been able to participate in Special Needs Preschool through the public school system. It has taken a while but physically he has improved by leaps and bounds. He still has delays in many areas but continues to progress and is very proud of growing up.

As the dust settled we began to think about expanding our family again. Given the fact that Caleb does not have the typical 22q11 deletion associated with DiGeorge Syndrome, the doctors evaluated our risk factor of having another child with congenital birth defects at 3-5%. Unfortunately, we were in that 3-5%. On Thanksgiving Day 2005 we were happy to learn that we were expecting our second child. In February of 2006 we were told that this baby also had a severe heart defect.

Please see Oliver Leo’s story.