A Brief Story of Samuel Meir Austin

Sam was diagnosed with a Congenital Diaphragmatic Hernia (CDH) during an ultrasound at 13 weeks gestation. Sam’s diaphragm failed to form on the left side and his abdominal organs were growing in his chest, impairing lung and heart development.

Based on prenatal testing (level 3 ultrasound, echocardiodgram, amniocentesis, and fetal MRI), it was determined that Samuel had a severe form of CDH. His chromosomes and other organs appeared to be normal but he had stomach, bowel, liver and spleen growing in his chest and nearly no visible lung development. It was predicted that he would die shortly after birth. We spent the remaining months of his pregnancy anticipating this outcome and praying that he would have peaceful journey for whatever time he was meant to be with us. 

Samuel was born via c-section on February 1, 2011. The neonatologist had discussed with us our wishes if he passed right away. But he heard Samuel’s strong heartbeat and declared, “we have life!” Samuel had enough lung tissue to be intubated and ventilated and went to the NICU. Our baby was being given a chance at life after all. 

Samuel was on multiple IV medications, nitric oxide, and an oscillating ventilator. He was too sick to handle any touch, light or noise. He was a week old when he first opened his eyes for a few moments and I excitedly told the neonatologist that he looked right at me. The doctor told me, "of course, mama, he is in there and he knows you." Sam was transferred to the PICU at Alberta Children’s Hospital when he was ten days old.

Samuel couldn’t have his diaphragm repaired until he was stable enough to survive the surgery. This day came when Samuel was 25 days old, when the doctors determined that he was not going to get any better and they had to try. In a 4 hour surgery, the surgeons moved his abdominal organs out of his chest and created an alloderm patch where his diaphragm would otherwise be. When the surgeon returned later that night, she told us that she pulled the bowel out of Sam’s chest and a healthy-looking, reasonably-sized left lung inflated. Our baby had grown two lungs.

Two weeks after surgery, when Samuel was five and a half weeks old, doctors told us they no longer believed he was going to die. Up to this point, Samuel had been too sick to handle any touch, noise, or stimulation. Now they let me sponge bath and cautiously dress him. Sitting perfectly still and with our ICU people managing his lines and breathing tube, Chris and I were finally able to hold our Sam. 

When he was seven weeks old, Samuel got a life-threatening femoral blood clot, blood sepsis, and pneumonia. Just as we'd let ourselves believe he was going to live, he was in danger again. Sam started on multiple antibiotics and a three month treatment of blood thinners.

When Sam was eight weeks old, the head of Acute Pain Services prescribed a drug cocktail to help Sam wean off of his other sedation drugs so that he could wake up and learn to breathe on his own. Sam went into baby rehab and came off of fentanyl, morphine, ketamine and medazalam by taking methadone and chlonidine. It worked! The whole rehab process took two months, but our boy started coming alive to us. Up until this point, it was assumed that he would need a tracheostomy to breathe.

When Sam was nine weeks old, he was extubated to BiPAP. We got to see his sweet face without tapes and tubes and we got to hear his tiny squeaky cry for the first time. We could hold him more easily now that he didn’t have a critical airway. He got lots of cuddles and massage and some beginning oral therapy from mama. His big brothers and his grandma got to hold him as well after many months of waiting.

At three months old, Samuel graduated from ICU and went to Unit 2. This was an amazing milestone for us - and yet a scary one as well since our life with Sam seemed so dependent on the ICU people who saved him and took care of us.

Sam still weighed 6 and a half pounds as he did the day he was born. He’d been kept alive with IV nutrition and expended a lot of energy to learn to breathe. A few days after getting to Unit, he took his first food by mouth. He had daily occupational therapy to help him learn to eat by mouth and musculoskeletal occupational therapy for hand contractures. Physiotherapy started to help him build strength and to address his head shape from months of laying on his back. Sam was tested for possible co-morbid GI and respiratory illnesses and saw specialists from Audiology and Ophthalmology.

As part of these tests, Sam was diagnosed with Ocular Albinism, a genetic condition causing limited pigment in his retina and optic nerve. The primary effect of this is difficulty processing light (photophobia) and a constant roving motion in his eyes (nystagmus). His visual impairment is not correctable and will continue to be a focus of his motor, speech, and social development.

Sam was discharged from hospital on July 1, 2011 at five months old and came home to be with his mum, dad and 3 brothers. He came home on oxygen support and a nasogastric (NG) feeding tube to augment his oral nutrition. He had only 3 remaining medications. He was followed by nine outpatient clinics at the Alberta Children’s Hospital, including a clinic specifically for children with Congenital Diaphragmatic Hernia.

Life after Hospital

At seven months old, Samuel’s pulmonary hypertension measured in the normal range and he was taken off the last of his cardiac medications. He was on a half-litre of oxygen, an acid blocker for mild reflux, and vitamin D. He was eating enough orally that we weaned him from NG tube top-ups.

At eight months old, Samuel’s diaphragm reherniated – his patch broke and his bowels moved up into his chest. He had GI symptoms (reflux, constipation, vomiting) but not respiratory distress. He had an eight hour surgery to repair his diaphragm using an alloderm and goretex patch. He was home a week later with the same oxygen support and feeding regime as he’d had prior to reherniation.

We began the process again of increasing oral feeds, weaning NG support and weaning oxygen support. At ten months old, Samuel was done with the NG top-ups and he came off of all oxygen support. By his first Christmas, our baby was officially tube-free and able to start a more developmentally “normal” path.

Samuel’s Big Repair

At eleven months old, we discovered that Samuel’s diaphragm reherniated again. Since he was strong enough to be off tube feeds and oxygen, and since his last patch had held for less than three months, we agreed to do a more invasive repair that would build Samuel a diaphragm using his left lattisimus dorsi muscle. This surgery required three surgeons and twelve hours of OR time so we waited a month with Samuel’s bowels in his chest before the repair was done.

Samuel’s lattisimus dorsi muscle was detached at one end, moved down through his rib cage (part of a rib was removed), and pulled across to attach to his existing right diaphragm. The phrenic (diaphragm) nerve was attached to his left lattisimus so that his brain can communicate and tell it to act as a diaphragm. As the lattisimus is his own muscle with its own blood supply, it should grow with him as a natural diaphragm would.

The recovery from this surgery was extremely difficult. For 72 hours post-op, Samuel’s heart, kidneys and lungs did not function no matter what interventions were used. He was being kept alive by machines yet again and we didn’t know if he would live. However, by eight days post-surgery, he was extubated and re-learning to breathe and eat. He spent three weeks in hospital and came home with a NG tube top-ups but no oxygen support.

By sixteen months old, Samuel had no further tube feeds. At twenty-one months old, Samuel had eye surgery to repair his quickly-worsening strabismus. The resultant improvement in his vision (especially his depth perception) created an amazing burst in eating and in gross motor, fine motor, and social development. The general anesthetic from this surgery was hard on his body and we ended up admitted, but it was a breeze compared to what Samuel had already been through.

Samuel at Two

At two years old, Sam’s medical appointments were transitioning from medical needs to a more developmental focus. Sam was delayed in gross motor, fine motor and speech development. In order to help him catch up, we arranged for him to receive early intervention (PUF) supports. He was eating anything that a normal toddler would eat, with some oral issues related to texture and some reflux. He was 10th percentile for height and not on the charts for weight, a profile common in CDH babies who require extra energy output for respiration and digestion.

Samuel was sick almost constantly the winter of his second birthday, despite RSV shots, isolation at home, and constant handwashing. With sometimes only a couple of days between the waning of one virus and the start of another, Sam lagged further in growth and development. However, he was never hospitalized, never put back on oxygen, and had no further problems with pulmonary hypertension.

Samuel at Three

At three years old, Samuel has not had any additional reherniations of his diaphragm. He has no ongoing cardiopulmonary symptoms. His lungs look normal and full size on x-ray and his pulmonary hypertension remains resolved. The effects of his CDH show up mostly in gastrointestinal concerns such as constipation and reflux. He is at high risk of scoliosis because of his diaphragmatic hernia, missing rib, and relocated lattisimus muscle. However, so far he is holding strong. He will be followed by surgery, cardiology and ophthalmology for many years.

Starting when Sam was two and a half, we had occupational therapy, physiotherapy, speech therapy and a special education teacher working with him in-home. His walking, jumping, shoulder strength and balance all soared. His speech took off. He continues to advance and, now finally off of medical isolation restrictions, he's started preschool as well. 

Sam’s global hypotonia was initially thought to be caused by his difficult beginnings and three thoracotomy surgeries but is now thought to be related to an undiagnosed genetic syndrome. Whatever that syndrome is, it has not affected Sam’s ability to learn and love. He is smart and stubborn with a wonderful sense of humour. He adores his big brothers, music and playgrounds. He hates chest x-rays, needles, and having his ears touched.

As I write this now, Sam is three and a half years old. He goes to playschool twice a week and attends gymnastics and music class. He's making friends and trying to negotiate absolutely everything and learning not to throw his food. He comes to soccer games with his brothers and plays soccer himself every chance he gets.  

Our Samuel Meir is full of light and draws smiles where ever we go. His difficult journey has been full of learning, awe, fear, faith, magic, and gratitude for our whole family and his presence in the world is a blessing beyond what we could have ever imagined. 

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