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 “ re jigged” with an operation now, 1 at age 5 & possibly 1 at 10 but she’d have a normal life.
We were transferred next day to Glasgow’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 we’d previously been told. She had pulmonary atresia with an intact septum, critical aortic stenosis , hypolplastic right ventricle & a patent ductus arteriosis. In layman’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 weren’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 it’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.