Rachel was born in May 2011 after a traumatic delivery. She was handed to dad while they worked on me. She weighed 5lbs 7.5ozs. At a few days old the midwife noticed she was a dusky colour & asked a dr to look at her. She was scanned & taken to NICU. They diagnosed her with a congenital heart defect & told us her plumbing needed â€œ re jiggedâ€ with an operation now, 1 at age 5 & possibly 1 at 10 but sheâ€™d have a normal life.
We were transferred next day to Glasgowâ€™s sick kids hospital where we were told Rachel had 36 hours to live & a less than 30% chance of surviving any surgery. She was the sickest baby in the hospital. The diagnosis was a million miles away from what weâ€™d previously been told. She had pulmonary atresia with an intact septum, critical aortic stenosis , hypolplastic right ventricle & a patent ductus arteriosis. In laymanâ€™s terms she had half a heart...& the half she did have was affected too. They put a hole in her heart to let blood flow as her other organs were now compromised. The next day she went to the cath lab & they ballooned her aortic valve. Later that afternoon they took her to theatre & placed a central shunt. All this & not even a week old. She was on intravenous feed as they werenâ€™t sure her gut would tolerate food. We eventually got home when she was 9 weeks old. She was ng fed at this point.
A few weeks after we got home we got the news that she had a an extremely rare chromosome deletion called 3p25.3 deletion syndrome. There are only about 50 known cases worldwide .
Rachel is severely delayed, non-verbal and unable to walk, sit or stand but despite all this she is a happy wee girl with the most infectious of laughs.
At 16 months old she had her 2nd open heart surgery where they performed a Glenn procedure. The op was a success & we got home in just over a week. She will require a 3rd op to complete the Fontan but shows no signs of needing it just now.
At 3 years old she had her ng tube taken away & a peg placed for feeding, she now has a button, she is 100% tube fed. She has lots of hospital appts for her eyes, hearing, dietitian etc but itâ€™s worth it. Her epilepsy at present is well controlled thankfully. Her chromosome deletion has also caused her to miss a copy of the VHL gene. This makes her susceptible to growing tumours so she is monitored closely for this.
She is 7 now & has an afternoon placement at a wonderful school where she enjoys lots of sensory activities, rebound therapy & music therapy.
Rachel is very lucky to be alive as her condition was not picked up in any antenatal scans & we are extremely lucky to have her in our lives.