Joshua Mark Kingston with Tetrology of Fallot, Pulmonory Atresia with Ventricular Setpum Defect (VSD) and DiGeorge syndrome (22q11)

Extracts especially for CHD-UK 28 Days = 28 Real Life CHD Stories from the book that Shelly is currently writing

Following the medical profession’s reassurances that the chances of having a second baby with CHD are negligible, Hannah falls pregnant with her second child. She and Mark come to the hospital with Tyler for the first scan. She has told me she will come round and let me know how it went. As the minutes tick by and there is no sign of them, the waiting is reminding me of that first scan with Tyler.

After a period of what feels like a long time they appear saying that the baby is smaller than expected for its dates and they have put the expected delivery date back two weeks. In addition to this, they are concerned that the baby seems to have more fluid at the back of its head than they would like to see at this stage and they have not been able to view the heart adequately. This may or may not indicate a problem at this stage. Hannah and Mark have been told not to worry and I re-iterate this, although if I’m honest my heart has already hit the floor

At the second scan Hannah and Mark go in alone. A short while later they come out following a doctor, and beckon me to follow them to a small private room. Leading Tyler by the hand, as we enter I can see soft chairs, a lamp and a box of tissue. This is déjà vu. I can feel what little hope I have left leave by the door through which we are going. Hannah explains that they have been told there is a one in two chance that the baby has Downes syndrome and that they have discovered that there is definitely a problem with the heart

Once again we find ourselves at Kings College Hospital. We arrive in plenty of time, returning to the Harris birthright centre where Tyler’s journey began nearly two and a half years ago. We sit in the same waiting room on the same chairs, until Hannah and Mark go in for the scan. A while later the professor and her colleague explain that the heart abnormalities in this baby are more severe that those of Tyler. They have discovered that it has a condition called Tetrology of Fallot and Pulmonory Atresia with Ventricular Septal Defect (VSD). They are unsure if the pulmonary artery is absent or completely occluded. The option of termination is explained and we are told that they will send a CVS sample for further testing for a much rarer chromosomal disorder which can cause heart defects such as this. A basic diagram is produced and we are told that even if this baby survives it will be a sickly infant as this condition affects the lungs and offers a much poorer prognosis. The CVS tests later come back clear.

Despite this devastating news, Hannah reacts with determination that she will continue with the pregnancy. Again she is referred to the Brompton. Helena Gardiner, the consultant remembers Hannah and Mark from when they were expecting Tyler. She confirms what Kings have found and outlines her concerns for the baby. She explains that if you could imagine the lungs as the top of a tree, then this particular tree would be without a trunk. They are unable to find a connection between the heart and lungs and to compensate, his body has developed two major collateral arteries (MAPCA’s) connecting themselves from down near the stomach. They have been unable to find any evidence of an arterial duct which means there is very little they will be able to offer surgically after birth. The prognosis for Josh is therefore very poor.

Joshua Mark arrives on 26th April 2008 at 12.59 at Queen Charlotte’s hospital in Hammersmith He weighs 6lb 9oz .Immediately he is transferred by special ambulance to the Paediatric intensive care unit (PICU) at the Brompton and by the time we arrive is having a heart scan. He does very well and within a week is able to come home without anything needing to be done.

At home however, Joshua is a very sickly baby. Frequently, he vomits the whole of his feed forcefully down his nose and on each occasion stops breathing for around thirty seconds, turning a horrid colour. Following these episodes he becomes very floppy and drowsy and does not resume a normal breathing pattern for a good five minutes on each occasion. Feeding becomes a nightmare. He struggles to get through 2oz every three hours. He has moments where he turns extremely pale and becomes very blue in the face which extends right up to his forehead.
During the first few weeks he is seen by doctors, a health visitor and community nurse all of which say Hannah and Mark cope very well with Joshua.

At about six weeks the time comes for Josh to go in for his cardiac catheterisation, a procedure performed under general anaesthetic to enable the doctors to look inside his heart and take pictures. He is admitted to the Brompton for what is expected to be an overnight stay.

Josh goes to theatre at around 10am. At lunch time, Hannah and Mark are called by the doctor who tells them that Josh will be going straight to PICU as his saturation levels have been dropping more than they would have liked. An hour later they are still unable to bring him back for the recovery suite as he is too unstable and we are getting really nervous now. Meanwhile, Mark is down in the recovery room with him and is to bring him up in the lift with the nurse. Just then, we hear the lift open and see a nurse run by with a cot with Mark alongside her carrying Josh. He is the most awful grey and dusky colour I have ever seen and we know from the speed they are going that things are not good. Hannah follows behind them into the unit while Karina and I return to the waiting room to wait for news

Mr Rigby, Josh’s consultant arrives with another member of the team to tell us what they have found. I don’t remember all that he says as after a while his words start to blur and I am unable to focus anymore on what he is saying. What I do hear is “he is on a knife edge…., very ill…., a difficult anatomy to do much with…., even if he is to recover from this, he would have to come through each surgery 100% for him to make it….., very poor prognosis”. As the stream of bad news pour into our heads, I feel defeated, like every last bit of hope is being sucked from within. I can’t hold back the tears. This was only supposed to be a simple procedure.

Joshua is baptised on the unit later that afternoon. We are told that the episodes he has been having at home were in actual fact mini heart attacks and we should theoretically been calling 999. He is ventilated and paralysed. It is hard to see him under all the tubes and wires. Things are not looking good.

Josh has a settled night and in the morning, as his sats appear to have stabilized, they are reducing the drugs which have been keeping him asleep and allowing him to become slowly more conscious. Most importantly, he is well enough to be extubated and is now on CPAP which allows him to do a lot of the breathing for himself. His leg is causing concern as it has not regained its normal pulse and he has had undergo another transfusion overnight. He is also on the maximum dose of heparin. There is cause for concern when later on in the day the puncture sites from where he had the catheter done begin to bleed quite heavily. It is alarming to see as they involve the main arteries. However, it is a good sign as it means the clots have dissolved and the blood should now flow to his feet much better. He has another blood transfusion later in the afternoon.

Josh is to be transferred to the main ward where he spends the next few days recovering. However, just as he is really beginning to do well he spikes a temperature and develops blister-like spots. Chicken pox is confirmed and he receives a course of anti viral medication. This means that both he and Hannah must stay in isolation with no contact with the other parents or children on the ward. In addition to this, Josh has also develops a urine infection and is now on IV antibiotics.

Some blood they took from Josh earlier comes back positive for DiGeorge Syndrome (22q11). Josh is not doing so well. His sats alternate between the late 70’s early 80’s and then drop right down again. He also has a high heart rate at around 220 beats per minute. He now has an infection in both eyes and thrush in his mouth and bottom. He has episodes of vomiting and turning very blue and floppy. During these episodes he becomes rigid and screams like he is in a lot of pain. The doctors say that this could be due to something called ‘shunting’ where there is an imbalance between the amount of oxygen and blood getting to the lungs. This causes the MAPCA’s to spasm which is very painful. If this is the case it could mean that he will have to stay in hospital until surgery can be carried out which could be months. Suddenly we are all realising that we may need to prepare for this to be a long term arrangement. Josh is still on oxygen, and the doctors are saying that if he is not off it soon they will need to operate. However, they have also warned us that he is not strong enough for surgery.

In the weeks that follow, Josh continues to deteriorate with his sats dipping to 46 when he cry’s, feeds or vomits. He is on oxygen constantly and needs extra when his sats get really low. On three separate occasions he is rushed back to intensive care and on to a ventilator. The doctors have decided for this reason he won’t be going back to Medway at any point and will not leave the Brompton until he is well enough to have had a shunt fitted.
They are hoping not to have to operate until he is 5kg but as he is not putting on any weight, he is prescribed Viagra to help the pressures in his heart.

One morning we are awoken by a phone call from the ward. Josh has been having fits this morning. It is heartbreaking to see his tiny body twitching and shaking. He is transferred back to PICU and ventilated once more. At this stage they are unsure if he has suffered brain damage. Josh has a CT scan to assess this. He has to be transferred by ambulance to the main hospital down the road. On the way back, he has one of his ‘turns’ and they have to resuscitate him but the scan is clear and the fits are caused by low calcium levels associated with his 22q11.

One morning whilst at work, I get a call from Hannah to say they think the time is right to operate. On arriving at the hospital, I feel my heart sink as one look at Josh and I realise that this is not the positive move I thought it was. He looks really ill and I can tell the doctors are concerned about him. It is now obvious to me that this is a decision made out of necessity and not choice as I had previously thought. The surgeon comes to see us and tells Hannah and Mark that he honestly does not know what he will do until he opens Josh’s chest and finds out what is going on in there. Again there are no promises. Hannah begs him not to let Josh die alone on the table. She says that if there is nothing they can do or he does not cope with the surgery, that she wants him brought out to die with his family. The surgeon agrees that he will try and make sure this happens.

The anaesthetist arrives to take Josh down at around 2.15pm the next day. The doctor explains to us all that there is a fifty fifty chance of the central shunt Josh is having being successful. If it works and the pulmonary vein can grow with the increased blood flow, then there will be further options for him in the way of operations. However, if his body cannot adjust to the shunt or the vein still does not grow, Hannah and Mark will be in a situation where they may be asked whether they want treatment to cease.

Josh arrives back from theatre much quicker than we anticipated. He looks well and the surgeon tells us that despite being very unstable at the start, he has responded well to his new shunt and they are pleased with what they have done. However, despite our initial relief, we are soon to discover a few hours later that it is not to be the smooth path we had hoped for. The rollercoaster dips in the same way as Josh’s sats do, suddenly and without warning. The experience is terrifying as we know the implications of this surgery not working.

Josh is very unstable. The staff battle to find a balance between the blood going to his lungs, and that going to his body. The two extremes cause his fingers and toes to turn navy blue or his sats to drop dramatically. As a result of this, he often needs to be bagged or have yet another medication added. By the end of the morning he is having in addition of thirty different drugs including Adrenaline . He is heavily sedated and paralysed. Anything can cause Josh’s heart to become unsteady; suctioning, an alteration of position, a nappy change. With each episode of instability we hold our breath and search the doctor’s faces for reassuring answers and inevitably end up with none. We are advised not to leave the unit.

Doctors say Josh is becoming acidotic which means his other major organs are at risk of damage caused by his abnormal blood gases. There is not a part of his tiny body that is not being monitored. Wrapped now in wads of cotton wool, the only visible flesh has become a shiny, steel grey colour with a wax like appearance. I can’t help thinking that he looks dead. To add to this, he is icy cold to touch, that is when he can tolerate light skin contact. A nurse wraps a towel round his head to try and keep the heat in and with his swollen face he has become unrecognisable. Despite all this, I notice during the evening that when Hannah bends over the cot to whisper to him, Josh’s sats start to rise as she is talking. I am staring at the monitor and his nurse is too. She also observes that his heart rate lowers as well. Josh is responding to his Mummy’s voice. Over the next hour Hannah talks, kisses and sing to him and my heart breaks for this tiny little baby who is hanging on to life by a thread but so clearly doesn’t want to let go.

Two days pass with little change and then it is Hannah’s twentieth birthday, It is as she bends over to kiss Josh that she gets her best present of all when he suddenly opens one eye for the first time in almost six days. It is a very emotional moment and couldn’t be better timed. However, the end of the day brings some scary news. Hannah and I are sitting by his bed when Mr Umeara the surgeon appears. His words are shocking “tomorrow I want to take Josh back to theatre for another cath”. Hannah begs him not to do it but he is insistent. Apparently he has had a theory and it’s something he has to look for. Something so rare, even he has not seen one before. If he is right it will change the way they are treating Josh and give him a chance. We don’t ask what will happen if he is wrong. Surely he is too ill to survive another operation?

The next day Josh is still attempting to open his eyes. Although weak and ventilated, his eyes fight to focus on Hannah’s face as she talks to him. I cannot bear to look at them both and I cannot begin to imagine how we are going to find the strength to go through again what we have over the last few days. Fortunately it is not long before they are ready to take Josh to theatre. This bit never gets any easier. I ask the nurse why they are doing this and she tells me that just because he seems better, it doesn’t mean everything is ok. It would only be a matter of time before he took a turn for the worse again and he is not strong enough to keep fighting these episodes.

Much to our amazement Josh arrives back from theatre in little more than forty minutes. Mr Umeara comes to talk to us and he seems very pleased. He has found what he is looking for. He explains that Josh has a tiny tunnel known as a fistula running from his pulmonary artery to his left circumflex. It is extremely rare and normally this would be untreatable, but in Josh’s case it is so tiny they hope it will close on its own. It means they can now change the treatment they are giving him. Over the course of the rest of the day Josh makes good progress. Whatever this new treatment is he certainly seems to be responding to it.

Josh left hospital five weeks later but this was by no means the end of it. In the eighteen months since his surgery he has had numerous spells in hospital with infections including, pneumonia, swine flu and bronchitis. He continued to fail to thrive, weighing only 11lb at a year and being both NG and NJ fed until a gastrostomy was performed in August 09. He is still pump fed overnight and takes thirteen different medications throughout the day. He is under the care of five different hospitals.

Despite his problems, Josh has never ceased to amaze both his doctors and his family with his determination to prove he is capable of doing anything, albeit slower than other children his age. The best news ever came in November 09 when after another catheterization procedure we were told his pulmonary artery has successfully grown and they are now able to plan a radical repair on his heart. We are waiting to hear when and how they will do this.

Wrote by Shelly Coombs
February 2010

To read Joshua’s brothers Tylers story click here.

Shelly Coombs has given CHD-UK permission to use the photographs on this page.