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TrachKid Profile

My husband Grant and I have been married 3 years now and we have two children. Dominic who is 2yo and Sebastian who is 3yo. Sebastian was born with a bilateral cleft lip and palate and although this wasn't diagnosed in utero, we knew that there was a good chance that we would have a child with a cleft, since there is a family history of Van Der Woude Syndrome. Sebastian's first surgery was at 3 months old, to repair his top lip. He has had another three surgeries since and a few minor procedures, such as the insertion and replacement of grommets. We are very proud of him and he is a wonderful big brother to Dominic.
Just after we were married we were expecting again and at our 20 week scan, we discovered that our new little bundle of joy was going to have a rocky start to life. The scan showed that Dominic had an abdominal wall defect called an exomphalos, which was a sack on the outside of his abdomen that contained his liver. Essentially his liver was growing on the outside of his body and would have to be repaired with surgery after he was born. It was becoming clearer the further into the pregnancy we got, that he had other underlying medical issues. It was mentioned that Dominic had an overgrowth syndrome of some sort and the pressure of the pregnancy on my body became life threatening. At 23 weeks I was the same size as I was at 42 weeks into my pregnancy with Sebastian, who was born at 42w+1d. I had high blood pressure and I was carrying a lot of extra fluid (polyhydramnios) which became so bad, that toward the end of the pregnancy I could no longer walk. I was admitted to hospital at 30 weeks with pre-eclampsia where I spent 7 weeks. After a series of complications, I eventually suffered from an eclamptic seizure and Dominic was born on Boxing Day 2007 by emergency ceasarian at 36w+5d (weighing in at 3.8kg). We were both taken to ICU after his delivery.
His time in NICU was only short, 3 1/2 weeks. He was intubated at birth and after a failed attempt to repair his exomphalos that same day, it was successfully repaired when he was 5 days old. He was diagnosed with Beckwith-Wiedemann Syndrome, which can have some or all of the following characteristics: Exomphalos, born within the 95th percentile, large tongue (macroglossia), ear pits,  stork bite (nevus flammeus), increased risk of Wilm's tumour (kidney tumours) and hepatoblastoma (liver tumours), low blood glucose at birth (hypoglycemia), enlarged organs (for him this was his liver and kidneys), hemihypertrophy. Dominic had all of these characteristics. He also had lower lip pits which indicated that although he didn't have a cleft, he has Van Der Woude Syndrome. He had a suspected patent ductus arteriosis (a heart murmur caused by the duct in his heart not closing) which eventually closed on its own by the time he was 4 months old. He was a very sick little baby.
We managed to keep him home for 4 weeks after his discharge from NICU but in that time he was admitted to hospital twice for breathing issues. We became extremely run down from having to keep a constant vigil to make sure he kept breathing. He would turn blue upward of 20 times a day, which occured mostly while he was sleeping and feeding. At night he would often stop breathing completely until he was picked up out of the bassinet. We got no sleep in those early days and I was still recovering from a bad pregnancy and emergency ceasarian. At 3 months old he became so unwell that he was sent to Sydney Children's Hospital, where further investigation revealed that he was suffering from severe obstructive apnoeas, caused by his large posterior tongue (macroglossia) blocking his upper airway. A tracheotomy was performed to by-pass his upper airway. We spent 7 weeks in ICU and Grant and I both learned how to manage his tracheostomy care. During this time, I was so exhausted that I contracted Legionnaire's Disease, for which I was admitted to hospital for. Shortly after I recovered we were transferred back to Canberra Hospital where Dominic spent a further 3 months waiting on our application and funding approval for the Caring for Kids at Home Program. Sebastian was in full-time day care and I would spend days at the hospital with Dominic and nights at home with Grant and Sebastian. At one point both boys ended up in theatre on the same day, Sebastian had the second stage of his lip repair surgery and Dominic had a bilateral inguinal hernia repaired. Times were pretty tough but we remained hopeful, positive and strong. Then, in the same week the funding for Dominic to go home was approved, his routine 3 monthly ultrasound showed a mass on his kidney. Due to a predisposition to Wilm's tumours in children with BWS, we were sent back to Sydney for an oncology review. They removed the top half of his right kidney which revealed a benign cystic nephroma, so thankfully he didn't have to be treated with chemotherapy. He was finally discharged to come home in November 2008 under the Caring for Kids Program, after a gruelling 9 months in hospital.
Dominic receives overnight care by lay awake carers at home 7 nights a week. He is supported at night with supplemental oxygen because of his reduced lung capacity, which is caused by bronchiectasis, a chronic lung disease.  He is on prophylactic antibiotics to reduce the number of reoccurring Haemophilus Influenzae and Moraxella infections, and this is working well. He has copious amounts of thick secretions and requires regular suctioning, even overnight. He has reactive airways when unwell, breathe holding episodes in response to pain and developed anaphylaxis to eggs in August 2009. Despite his complex medical needs he is a bright and happy boy who is now thriving.
In January 2010, Dominic had tongue reduction surgery performed by Dr Heggie at The Royal Children's Hospital in Melbourne. During surgery it was discovered that he was tongue tied and we are hopeful that releasing this has enabled his tongue to come forward enough to open up his airway. A bronchoscope revealed enlarged adenoids, a mild subglottic stenosis (only 20%), mild tracheo malacia and granuloma tissue above his stoma. He is booked to have an adenoidectomy, grommets, removal of granuloma tissue and another bronchoscope later this year, with a decanulation trial to follow shortly afterwards. Since his tongue reduction surgery he is vocalising effortlessly around his trache and is now saying mumma and bubba. He has progressed from strictly pureed foods to soft lumps and is now starting to eat savoury biscuits and soft bits of cut up fruit. We are able to brush his teeth without him gagging and he is overall less frustrated and much happier.
If planned decanulation is unsuccessful the next step MAY be jaw extraction, to help bring the tongue base forward and further open up his airway. Only time will tell. It has been a long road but worth every step. Being Dominic's and Sebastian's parents has taught us so much about ourselves and given us a perspective on life that we otherwise wouldn't have. We beleive the boys chose us as their parents, because they knew we could see them through it. The love we have for them gives us the strength and courage to continue and every challenge has brought us closer together. These wonderful gifts are worth sharing.
 

• Gender: Male
• Demographic Region: Oceania
• Siblings: One
• Medical Conditions: Asthma, Beckwith Wiedemann Syndrome, macroglossia, Bronchiectasis, Eczema, Van Der Woude Syndrome, Exomphalos, Hypoglycemia, Bilateral Inguinal Hernia, Cystic Nephroma, anaphylaxis, breathe holding episodes

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