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DATE OF BIRTH: March 30th, 2005.
ILLNESS: Noonan Syndrome, PVS, HCM.
QUILT THEME: ‘Vehicles’.
Lachlan will receive a quilt made from ‘Any Child’ squares.
Lachlan’s favourite things are: Elmo, The Wiggles, Playschool, Cars, Balls, Animals, Planes.
Lachlan lives in the Australian Capital Territory.
BIOGRAPHY
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 neonatal intensive care before he was allowed home under close monitoring. (weighed in at 6 pound 1/2 oz at birth but lost quite a bit of weight in the first 3 days due to excess fluid draining from his body as a result of lymphatic issues).
We left the hospital with the genetesist wanting to see him 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, pulmonary valve stenosis and a vsd (ventrical septal defect). He went back 3 months later for further review and we were told at this visit that he required a cardiac catheterisation for diagnostic measures, and then open heart surgery.
UPDATE: Lachy had his open heart surgery for a Pulmonary
Valvotomy and Right Ventricular Outflow Tract Obstruction dissection on the 27th of July 2006. He was diagnosed with HCM (Hypertrophic Cardiomyopathy) whilst hospitalised for his heart surgery. He was meant to be in hospital for only 10 days but suffered MAJOR life threatening complications and ended up having further surgery, developing bleeding problems, had a minor stroke, and also a chylothorax. He remained in hospital for 8 weeks in total.
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, lymphatic issues, platelet disorder, chest deformity, scoliosis 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, ptosis of his eyes, low set ears, striking blue eyes, curly hair, short neck, large broad forehead, widely spaced nipples etc etc. She said genetic testing can be expensive but that she was SO convinced he had NS that she wouldn’t think it even necessary to have the genetic testing done unless something else happened along the line.
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.
This is just the beginning of Lachlan's life journey and story. Further details of his surgeries and how he is developing day to day, and to keep up with his progress can be found by visiting the website below.
http://www.caringbridge.org/visit/lachy
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