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Jenni Van Deyk

jellybean@iinet.net.au

Australia 

My name is Jenni, I am mum to Lachy (born 30 March 2005) and 3 other wonderful children - Lauren 12, Scarlett 9 and Haydon 7 (all fine and not NS children).  This is the very lengthy introduction from us to you as to what Lachy has been through so far.

Lachy was first diagnosed with problems in utero, beginning at my 20 week ultrasound. That ultrasound showed polyhydramnios and that his kidneys and liver were enlarged. We were referred to the Fetal Medicine Unit at our local hospital here in Canberra, Australia and the remainder of my pregnancy was closely observed and many a scan was done - all with different outcomes for every scan. From the first scan right up until the last they had thought he had 3 different syndromes, just to dismiss that possibility at the next scan. Lachy was also thought to have Beckwith Weidemann Syndrome as the most likely cause. This was again pretty much ruled out and the final diagnosis they reached was that his Ductus Venosis Valve was either blocked or not working.

He was having his 2 daily heart monitor checks towards the end of my pregnancy because he had started collecting fluid around his heart and lungs and they wanted to induce me before he went into cardiac failure. My waters broke a week before they planned to induce me but they induced me 2 days later due to risk of infection. When Lachlan was born he was already in full heart failure and respiratory distress. He was not breathing and had to be ventilated - I didn't even get a cuddle before he was whisked away. He spent the next 3 weeks in intensive care before he was allowed home under close monitoring. (weighed in at 61/2 oz at birth also but lost a few hundred grams in the first 3 days due to excess fluid draining from his body).

He failed to thrive initially on the breast but then picked up a bit once he went on to formula through the bottle. We left the hospital with the genetesist wanting to see him again at 6 months of age to review him again, but confirmed he did NOT have BWS (Beckwith Weidemann). He was sent home and we were told he had no major heart defects they could see but still wanted him followed up with the cardiologist.

When Lachlan was 3 months old he saw the cardiologist and was diagnosed with a narrowing of his pulmonary artery and a vsd (ventrical septal defect). He went back 3 months later for further review and we were told at this visit that he would require surgery on his heart.  He needed a Cardiac Catheterisation and also open heart surgery.

We unfortunately could not attend his first follow up visit with the geneticist at 6 months and had a visit with her when Lachlan was 10 months old. She said later in the visit, once she diagnosed Noonans Syndrome (NS), that she knew as soon as we walked in the door, just from his features, that he had NS. When I went on to tell her about Lachlans heart diagnosis, the fact that he has an inguinal hernia, undescended testes etc, all the parts of the puzzle really fell into place for her. Along with the above characteristics of the syndrome, he also has the fat pads on his fingertips, short hairline, droopy eyes, low set ears, striking blue eyes, curly hair, severe chest deformity, short neck, large broad forehead, etc etc. She said genetic testing can be expensive but that she was SO convinced he had NS that she wouldnt think it even necessary to have the genetic testing done unless something else happened along the line, although it has now been scheduled to be done as a remote participant through either the Harvard Study, or another genetic study which she knows of that is also apparently being conducted in New York. UPDATE: Lachy has now had the gene testing done and has tested positive for the PTPN11 mutation.

We also saw an orthopaedic surgeon in Sydney because, before he was diagnosed , Lachlan had developed a major chest deformity. He had full spinal xrays which showed what the radiologist thought to be mild infantile scoliosis with a cobbs angle of 9 degrees. The surgeon looked at the xrays and didn't think that the small curvature he had was enough to diagnose scoliosis, and that sometimes chests can just grow "wrong" as in Lachlans case. I came away from that visit feeling unsatisfied at his diagnosis and wanting more answers as to WHY his chest was malformed. Then, like seeing a light at the end of the tunnel we saw the geneticist and it all fell into place.

What a relief it was for us for him to be officially diagnosed.

Lachlan had a Cardiac Catheterisation done on the 12th of April, at The Childrens Hospital at Westmead in Sydney, and he was such a brave little boy. All went relatively well except he was a little bit sick on the tummy from the anaesthetic, but they gave him something for that and he had his appetite back in no time.  We were then scheduled, once the results were received, for Lachy to have his open heart surgery.

Lachlan's open heart surgery and stay in hospital was nothing short of completely unexpected and there were many complications. What should have been a 7-10 day stay, ended up being an 8 week stay. Lachy was admitted into the Sydney Children's Hospital (Australia) on the 25th of July for surgery to be done on the 27th of July. The day before his surgery I was concerned that no one seemed to be taking me seriously about his risk of bleeding. At this stage Lachy had not yet had any platelet aggregation studies done, but it was obvious that he bruised and bled very easily. The Anaesthetist came to see me, at my request (and boy did it take some serious words from me just to get this) the night before Lachlan was to have his surgery. I couldn't have asked for a better anaesthetist than him. He sat with me and very carefully listened to all my concerns, looked at the research I had done and Lachy's past history, and told me that he was very very glad that I had persisted in seeing him. He said my concerns were very founded and that he would do all he could to try and rush the platelet studies through before he went into surgery the next morning. He told me he would also courier over some Von Willebrands factor etc from the blood bank to have on standby, just in case. Despite his best efforts, the results did not come through until two days after Lachy's surgery and, guess what? He DID have a very bad platelet function disorder with a high chance of bleeding. If only they had of listened to me in the first place! We were given the tour of ICU the day before his surgery but it was nothing I hadn't seen or been part of before and I thought I was more than prepared for what I was going to face when he came back from surgery. I couldn't have been more wrong. Seeing Lachy like that was just too much, I broke down and sobbed - as much as I tried not to, I think it was almost a shock thing. We had seen Lachy on a ventilator and sick when he was first born, and I thought it would be the same - but I was so wrong.

Lachy was originally only going to need surgery for his RVOTO (Right Ventricular Outflow Tract Obstruction). The cardiothoracic team did another echo the day before his surgery and this echo revealed that he had also rapidly developed the pulmonary valve stenosis (as it had not shown up on his previous echo which was only 3 months previous to this one). I was not shocked by this at all, I sort of expected it I guess. The surgery lasted approximately 6-7 hours and was originally a lot more complicated surgery than first thought. He had the RVOTO dissected, a Pulmonary Valvotomy with a transandular patch put in and closure of his PFO. The VSD they originally saw seemed to have corrected itself and did not need any repair. Lachlan had a bad allergic reaction whilst in theatre to a drug called Protamine (see this page ). Within seconds of receiving the Protamine, his blood pressure dropped dramatically and he went bright red (I can see now from reading up on Protamine that this was a very serious reaction that he had and could have been fatal for him). Luckily they had something there to counteract it, but it made his overall recovery very drawn out and complicated. When the ICU called us to advise that Lachlan was out of surgery and to come down to see him we were so relieved that he had made it through. We got to ICU to be told that they could no longer let us in - Lachy was anywhere BUT stable and they said they were having troubles regulating his heart beat. We waited in the ICU waiting room for about another hour and a half before they were able to stabilise him and let us in to see him. Upon taking him off the bypass machine he developed VF and required a 1.5J shock. Upon stabilising him in the ICU, he had extreme problems with low blood pressure and required aggressive fluid resuscitation and use of Inotropes for nearly a week. After day 3 in ICU, we received a call to come back to the ICU (we were out having a break at the time) as they wanted us to sign a consent form for a non-infant approved drug in the hope to stabilise his blood pressure. I do not remember the name of it, as hard as I try! It however worked wonders, within about 60 hours or so and finally, 8 days later, he showed signs of stabilising.

On about day 2 in ICU he started developing significant bruising around the side of his face, which ended up spreading to both sides of his face, his neck and ears, and towards the back of his head. We were told they think this was due to a bleed he may have had from when they first attempted to insert the central line, but were unsuccessful. Due to his platelet disorder and high venous pressures, he had a bleed. Also on about day 2 in ICU he went into kidney failure and was put onto Peritoneal dialysis for approx 4-5 days until his kidney function improved. Lachy was taken off the vent and meds started to be wound down after day 7, and he was discharged from the ICU on day 11. Whilst in ICU he developed a nasty tummy bug - C.diffile toxin enterocolitis - which resulted in bloody and mucousy stools for most of the time he remained in hospital (doesn't help that the antibiotics were continually flaring it up!). He was discharged from ICU and taken to the isolation ward until he was cleared of the Cdif. He showed continual aversion towards oral feeds requiring long periods of NG feeds. Whilst in ICU, and about a further 3 times in the 8 weeks in total that he was there, he developed pleural effusions every time they tried to wind back his frusemide or spironolactone, but resolved itself upon increasing the meds again, all but twice in ICU where he required chest drains. He was starting to do ok on the ward when he again picked up another tummy bug and ended up back in isolation. Whilst back in isolation Lachlan started to go into heart failure so was then put on Captopril, which helped greatly after 4-5 days. Before the Captopril, his resp rate was up in the high 80's, his heart rate sitting between 180-190 and he was panting heavily. He was again discharged from isolation and sent back to the ward approx 4-5 days later, where he started again to show signs of improvement. But guess what - yet another tummy bug picked up and back in isolation again. This time it was adenovirus enterocolitis and unlike the Cdif, made him vomit constantly. He was put onto continual feeds of Gastrolyte, as that is all he could keep down. 3 days after being in isolation for the second time, he started again showing signs of heart failure. They performed an immediate echo and told us Lachy had developed another pleural effusion, and also a pericardial effusion, and needed to go back to theatre again to insert a chest drain and a pericardial drain - he was back in theatre first thing the next morning. At this stage, with everything that had gone wrong, I totally went to pieces. We had been there just over two weeks already (we were told we would be there approx 7-10 days) and now Lachy was back to square one again. The surgery itself went ok, with no complications during theatre and they expected him to be in ICU for only 1-2 nights this time. Later that night they attempted to wind back the vent in an attempt to extubate him, but he again started going backwards and his blood pressure was not stabilising. Upon doing an xray, inserting a chest drain, and observing the fluid coming from his chest drains, it had become clear he had developed a severe Chylothorax. When they first inserted the chest drain, they drained close to 600ml of fluid in about 30 minutes. They changed his diet accordingly, left the drains in until the chylothorax draining had minimised and he left ICU about 6 days later - so much for the 1-2 nights!!! He still had the adenovirus so had to be transferred from ICU back to isolation, where he continued to show improvement and was moved back to the ward about 6 days later. They fluid from the chest drain almost ceased so they removed it and xrayed the following days to ensure the effusions weren't redeveloping. The hardest part was the change to Lachy's diet. He was allowed NO fat orally, other than the MCT fat and oils he was receiving through his Monogen formula through the Kangaroo pump. So he went from a high fat, high energy diet to being allowed only 1g of fat per day (long and short chain fats). He showed continual improvement up until about 8 days before we went home where he started becoming tachycardic again. The cardiologist stopped his Captopril and told us that it was making the problems on the left side of his heart worse. This came as a shock to us as we were never really told he had other problems with his heart - they had only become apparent to the Doctors themselves whilst he was in hospital. They at this time diagnosed Lachy with Sub-aortic valve stenosis and Hypertrophic Cardiomyopathy. At this stage he is not on beta blockers and is being monitored, with a further echo being done in January next year to compare the measurements they took just recently.

8 weeks after we were admitted they said they wanted to discharge him home, even though he was not up to the 6 week clear mark of the Chylothorax healing. We were to keep him at home on the MCT diet and have him reviewed and xrays done regularly at home. They didn't want to take the risk he picked up another infection whilst at hospital, as his immunoglobin was very low due to the amount of fluids he had lost from the effusions and chylothorax. In other words - they knew it was safer at home for him while he was so vulnerable. YIPPEEEEEEEEEEEE!!!!!!!!!!!!!!!!!!!!!! I was very very very anxious, but so wonderfully happy and relieved to FINALLY be told we could go home. My 3 other children, Lauren, Haydon  and Scarlett had been on my mind constantly, and I had only once had a chance to see them whilst in Sydney with Lachlan. (We live 3 hours from the hospital and due to schooling had to leave the kids at home - good thing in the end we did!)

The drive home was surrealistic. I realise I have made this introduction far too long so will just finish off by saying the Chylothorax resolved, NG tube came out about 4 weeks after being home, Lachy was back onto a normal diet, off his medication (diuretics) and doing much better.

I have shed many tears, and still do, at just how close we came to losing Lachy. We had so many people around the world praying for us, so many sending their love and best wishes, and I don't think he would have made it without them. He pulled through, despite all the odds - despite the doctors worst fears - despite the warnings we were given - and is here today looking at us, kissing us, smiling. I feel blessed and overcome with human strength and willpower. I know I have a guardian angel out there looking over us now.

I would love to help and support anyone that suffers from NS themselves, or has a child with NS.  We have been through quite a lot, learnt even MORE about NS than most doctors know, and would be delighted to answer any questions that anyone has.  We are also interested in meeting other Australian families with NS sufferers, as there are only a few of us on the listserve.  We have set up a Caringbridge website for Lachy to keep friends and family updated continually on his progress, and we try to get in at least once or twice a week to post updates.  We would LOVE to have you all visit, read his updates and keep up with his progress and PLEASE feel free to sign his guestbook if you have time - we adore all the messages that are written and it will all be kept and printed for Lachy as he gets older for him to read himself and keep as a memory of all that he has been through.  You can access his site by visiting http://www.caringbridge.org/visit/lachy

With much love to everyone, Jenni