I think I should start this one with a preface of: I am a mother, not a medical professional – This is my understanding of all the medical terminology, symptoms, surgeries, blood chemistries etc.. If you are reading this as a medical professional and find something I haven’t explained very well; please let me know and i will update it!
Upon leaving John Radcliffe, we were presented with our 11 pages of discharge notes. On the first page there is a section called:
Principal problems / Diagnosis during stay
- Oesophageal Atresia with Tracheoesphageal Fistula
- Subglottic Stenosis
- Congenital Hydronephrosis
- Cystic Kidney Disease
- Other specified malformations of kidney
- Atrial Septal Defect
- VACTERL association
Quite understandably this list is likely to mean very little to you. I don’t think i’ve ever seen so many vowels in so few words.. What I will attempt to do is take it one and explain it as simply as possible. What I won’t do is explain the chronic conditions here because it would be a novel. I’ll get to those later.
Oesophageal Atresia with Tracheoesphageal Fistula
Oesophageal Atresia is a rare birth defect. It is where the upper part of the Oesphagus / Food Pipe ends in a pouch and does not connect to the stomach. This condition commonly occurs with another rare birth defect: Tracheoesphageal Fistula. This is where the lower part of the Oesphagus joins to the Trachea / Windpipe.
There is a really good picture of what this looks like on the NHS website with some further information if you’re interested: NHS Website OA/TOF
Subglottic – under the larynx / voice box
Stenosis – Narrowing
Dominic has a narrowing of his airway underneath his voice box. Dominic’s is also pretty rare in that he has a web in his airway, as opposed to the sides just being narrow. (It’s not something anyone at JR had seen before). So… in true doctor style it’s been given it’s own cool name: A Laryngial web. I like the GOSH (Great Ormand Street Hospital) explanation of this one: GOSH Subglottic Stenosis
Cystic Kidney Disease
This effects one of Dominics kidneys. Worldwide, polycystic kidney disease is responsible for 5% of all kidney failures. It is where multiple cysts filled with fluid grow in the ‘functioning’ part of the kidney (the wall where the kidneys do all their work). As the cysts grow they replace the functioning part of the kidney. One of Dominics kidneys (Right) is all huge cysts – it is effectively dead. It doesn’t function at all.
National Kidney Foundation Polycystic Kidney Disease Has further information.
This is a congenital defect in Dominic’s Left kidney. It is a build up of urine in the kidney causing it to swell up. The swelling in Dominic’s was so severe it was putting pressure on the outside skin (the functioning bit of the kidney) causing issues with it’s development.
The hydronephrosis in Dominic’s kidney was caused by the ureter prolapsing into the bladder while he was in the womb. It completely collapsed his bladder meaning all the urine had nowhere to go and just kept backing up; significantly dilating both his kidney and his ureter. (His ureter is bigger than yours).
In general hydronephrosis isn’t something to worry about in babies, but Dom only has this one broken left one, the hydronephrosis has impaired his renal function to the point of severe chronic kidney failure. He will need a kidney transplant. This is his most life-threatening condition. NHS Hydronephrosis
This isn’t an issue anymore, but when Dominic’s was born he had some fluid trapped in his scrotum causing one of his balls to be swollen. It disappeared around week 9/10 on it’s own.
Where some air got trapped between his lung and chest wall after the OA/TOF surgery. It collapsed his right lung but was re-inflated and fixed by week 2 (thank you JR :))
Where the cartilidge in the windpipe hasn’t formed yet or is still forming. It causes the airway to be ‘floppy’ TOF Website Tracheomalacia
Low sodium.. that was dramatic 🙂
Atrial Septal Defect
Hole in the heart – should fix itself as he gets bigger – in fact it probably has already. ASD Kids Health
This is the syndrome they think Dominic has. It is a collection of symptoms all in one person:
- vertebral defects
- anorectal anomalies
- cardiac defects
- tracheo-oesphageal fistula/oesophageal atresia
- renal abnormalities
- limb abnormalities
You have to have at least 3 to qualify. Dominic has something squiffy with the very bottom of his spine (Vertebral) he has a heart anomaly (Cardiac) he has both TOF and OA, and he has Kidney issues (Renal). He doesn’t have anything wrong with his bum and he has all his arms and legs which he likes to flail arround wherever possible so no issues apprent there either.
GOSH have a nice easy to read section on this one: VACTERL association