Christopher’s Journey.

All the Genetic Testing has come back clear and Christopher does not have a syndrome or disease. The Dr’s say that Chris has VACTERL Association. Unfortunately, Chris has problems in all the VACTERL Characteristics. Even the Neonatologist said that he has never come across a child who has every characteristic, so yes that is my kid – absolutely unique, original and complicated!!

V – Scoliosis and Hemi-Vertebrae and a couple of abnormal ribs on the right hand side.

A – Anal Atresia with fistula between Bowel and Ureter.

C – Ventricular Septal Defect (VSD); Transposition of the Great Arteries (TGA); Double Outlet Right Ventricle (DORV) and Pulmonary Stenosis (PS).

T – Tracheo- oesophageal fistula (TOF)

E – Oesophageal Atresia

R – Multi-cystic/Dysplastic Right Kidney (will never work) Left Kidney small and abnormal in size and shape.

L – Missing Right Thumb and Talipes (Club feet)

S - Single Umbilical Artery

I went and saw Dr. C. A. (Neonatologist) today at the WCH, who went through with me all the problems that have been identified with Christopher and the likely path of of action with each issue.

1. Club Feet (Talipes) – like to be corrected with plaster, though this is not a life threatening problem, which is likely to take a back seat while other problems are addressed.

2. Cleft Lip & Palate – Early issues include Feeding, whilst later issues will include speech and dental/orthodontic problems. Correction of Lip is likely to be within 3 months of birth, whereas correction of the palate is likely to be completed with the first year, depending on feeding and growth issues.

3. Hemi-vertebrate – Likely not to cause problems until Christopher is approx. 13 – 19 years old and may occur with growth spurts. If a problem is to arise due to this issue, its likely to be pain in the back and possible problems with formation of the spine whilst he is growing.

4. Multi-cystic Kidney (right) – will be closely monitored during the first months of life to make sure that the good (left) kidney is coping well with it’s function and also, most likely, in Christopher’s week, an ultrasound and MCU (with dye) will be used to confirm kidney function and to rule out kidney reflux.

5. Heart Defects – Angio-plasty likely to occur in first 48 hours or so, if required, to allow hole to remain open, to allow Christopher to gain strength and weight until his open heart surgery in Melbourne at age approx 6 – 12 months. This is providing he is feeding and growing well and isn’t too “blue”. It may be possible he will have this operation sooner, all being dependant on his progress.

Initial Plan of Action (so far):

1. Heart (Priority)

2. Discovery Phase – to scan kidneys, brain and liver to confirm function and normal development, also to rule out further problems.

3. Genetics – to revisit with the Geneticists to confirm or rule out any syndromes that may be the cause of all of Christopher’s problems.

4. Other issues, including, Talipes; Cleft Lip and Palate and Hemi-Vertebrate to be fixed on an in need basis, depending on Christopher’s progress in early life.

Ventricular Septal Defect (VSD)

The most common heart defect (“Hole in the heart”). When small, such defects cause little in the way of problems and often “heal” (close) on their own. Blood flows from left ventricle to right ventricle at high pressure, often producing a loud “murmur” with each heart beat. The effect on heart function depends on the size of the defect, but may be very minor. Surgery may not be required, if the heart shows no evidence of “strain”.

Larger VSDs allow more blood to flow from the left ventricle to the right ventricle and lead to increase in pressure and flow in the lung circulation. This places significant strain on the heart and affected babies usually need surgical repair of the defect. An operation may be required in the first three to four months of life, though some defects, which are causing less trouble, may be left for a few years, in the hope that they may get smaller, only needing surgery if they remain large or are associated with other problems.

Transposition of the Great Arteries

The Aorta arises from the right ventricle and receives “blue” blood, whilst the Pulmonary Artery arises from the left ventricle. The baby becomes blue immediately after birth and needs urgent treatment. Survival depends on the ductus or the Foramen Ovale remaining open in the early days of life until treatment can be applied. The Foramen Ovale can be enlarged with a catheter procedure, called Balloon Septostomy, which is performed in the first few days of life. This involves a catheter with a balloon at the tip, which is passed from a leg vein until the balloon is in the left atrium (across the Foramen Ovale). The balloon is then inflated and the catheter is pulled back to the right atrium.

Early surgery is essential and involves the ” Arterial Switch Operation”, which is carried out in the first week or two of life and corrects the abnormality. The small coronary arteries, which feed the heart muscle with blood, need to be transferred as well as the two Great Arteries (Aorta and Pulmonary Artery).

Double Outlet Right Ventricle

In ‘Double Outlet Right Ventricle’ (DORV) the two Great Arteries (Aorta and Pulmonary Artery) both originate from the right ventricle and blood from the left ventricle passes across a VSD into the RV to reach the great arteries. The lung circulation is often exposed to very high pressure and increased blood flow (as with a large VSD). There are many different varieties of this abnormality.

Here is some information about Neo-natal Units and their different levels. Christopher is likely to start off in Level 3, and as he gets better and stronger, he will move down to Level 2 and then Level 1.

“Babies who spend time in a level 1 nursery are usually relatively well, just needing closer observation.
The caregiver carries out the required observations and gives guidance on feeding, bathing, and day to day care as well as helping parents become accustomed to handling their baby. Babies who have been very unwell in levels 2 and / or 3 of the nursery may spend some time in level 1 after they recover and are preparing to go home. ”

“A level 2 nursery caters for babies who are unwell and / or premature and need a fair degree of medical treatment, but who can breathe on their own. Most babies who need treatment in a newborn nursery will spend their time in a level 2 nursery.

Babies who spend time in a level 2 nursery are usually unwell and require treatment to administer medications, fluids and nourishment. They are likely to be placed into a humidicrib or incubator bed to help keep them warm, usually having monitors and / or drip machines fed through special openings in the crib.”

“A level 3 nursery caters for babies who are very unwell or very premature. They usually need constant medical attention and generally assistance to breathe artificially with machines. Babies who spend time in a level 3 nursery will often have many wires and tubes attached to them with monitors that can continually beep and flash around the baby, tracking their well being.”