Our diagnosis story
I write this with great detail in the hope that it may help someone out there going through the same as we have!
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Megan taken October 21st, 2006
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Megan was born on the 11th June 2006, at 41 weeks through a normal delivery, Her APGAR scores were 8 and 9, her weight was 2.9 kg's and there were no complications, in fact I had a dream pregnancy without any major issues at all. We were discharged after 24 hours on the early discharge program with daily follow ups from a midwife that visits our home.
The first 3 days she had lost 350 grams and was put onto 3 hourly feeding with top ups from a bottle, I began topping up with infant formula as was unable to express enough to give her. She would vomit anything given to her from the bottle and continued to lose weight. We were sent back to hospital for a through check.
When we presented the doctor noted she was malnourished, dehydrated and was smacking her lips and had unusual right eye deviations. An immediate lumbar puncture (meningitis check) was done along with full bloods and a CT scan to check a lump on her head that had been present since birth. All results turned out to be normal and we were transferred to Sydney Children's Hospital at Randwick for further investigation. At this stage she was being rehydrated with a drip but wasn't having anything else.
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Megan taken August 25th, 2006
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She had a full septic work up and was started on Ampicillin, Gentamicin and Acyclovir (I had a facial cold sore 2 weeks prior to having her). Neurology quickly did an EEG, which came out normal with no seizure pattern and an MRI further proved the lump on her head was of no concern. She had her first episode of hypoglycaemia on the 22/6 (1.2 on a dex stick) and was started on 10% dextrose and continued to have borderline BSL's. Due to all of the medications a right femoral central line (an operation taking 3 ½ hours) was inserted as peripheral cannular were failing quickly. I remember before surgery 4 separate people trying for an hour each to get a drip in prior to surgery, all were unsuccessful.
Megan had been graded up to full enteral feeds but loose watery stools persisted along with vomiting, despite being started on the formula NEOCATE. Her LFT"S were also a continued issue. Stool samples confirmed her Protein Losing entropy so we had yet another piece to our ever perplexing baby's symptoms.
During this time Megan was seen by Genetics', Endocrine, Neurology, Ophthalmology, Cardiology and Audiology. Audiology noted a moderate hearing loss and hearing aids have since been fitted. Otherwise no one had an answer for us.
On the 7/7/06 Megan became very unwell with a febrile illness in association with coagulopathy and liver derangement. Her recently inserted central line had also begun to bleed and she was bruised from neck to stomach. I have never seen a child so pale and still breathing.
Once again a full septic work up was done and vancomycin, gentamicin and metronidazole was commenced, she was admitted to ICU and we were told she probably wouldn't survive the night. I have never felt so much pain. She was given FFP, cryoprecipitate, vitamin K and a packed cell transfusion, somehow our beautiful little baby made it.
The genetics' team finally spoke to us regarding the possibility she may have a CDG, in fact they were 95% sure it was 1B and commenced Mannose therapy. It would take a month to confirm it was in fact 1a and the mannose was stopped after this diagnosis.
A GI endoscope was performed showing a few petechial spots on the gastric and duodenal mucosa but otherwise normal.
After returning to the ward, while pushing an iv antibiotic into her central line, it popped out of her vein at the shoulder level and began seeping through her skin at 11pm. Emergency surgery at 2am was then performed to replace this line with a double lumen Hickman's central line in her left shoulder. Once again Megan became unwell and line sepsis was presumed. Another round of antibiotic's and a line swab showed nothing.
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Megan
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It was then decided that Megan needed nutrition and her gut needed to be rested, she was started on Total Paternal Nutrition and Lipids through her central line, and feeds were completely stopped for 2 weeks. She began to gain weight and thrive. Her Hypoglycaemia issues then ceased and we didn't have any issues after that. It took 2 weeks for the diahorrea to finally stop.
On the 2/8/06 a nasal gastric tube was reinserted and feeds (ELECARE) graded up slowly, as the TPN was graded down. Megan didn't tolerate feeds at above 16mls per hour continuous so a Nasojejunal tube was placed and feeds graded up from there. Megan's bowel motions became more solid and the vomiting stopped except for frequent bile vomits which got worse as her LFT's increased.
Infection was initially though to be the cause of her elevated LFT's however Megan's LFT's would often increase while she was clinically well, so eventually it was put down to her disorder. Several E coli UTI's were suspected and were treated with amikacin and gentamicin, however eventually it was considered to be a colonisation rather than true infection - this is still a question we have to this day. She also contracted RSV but didn't have any respiratory distress.
She received her 2 month immunisations a month late and responded normally (Finally something normal).
On the 17/8/06 a liver biopsy was performed under a GA. The main findings were of moderate steatosis and mild siderosis with marked peripheral bile duct proliferation. (I copied that from the report!!!) Basically not of major concern, they will do another biopsy in a few years.
Throughout the stay Megan required 2-3 weekly albumin (blood protein) infusions as well as several FFP and blood transfusion. Blood tests were very regular causing many issues.
Neurology and Physiotherapy believe her to be in "Normal" parameters at this stage. Speech Therapy has also been involved alongside a Dietician, Megan regularly refuses bottles, when she does take them she sometimes tolerates up to 10 mls, and sometimes she immediately vomits. Her suck is strong and normal. She sucks her dummy a lot!!! We are hoping the introduction of solids will be easier.
We were finally discharged on the 3rd October 2006 on 31 mls an hour of continuous NJ feeds. Megan has continued to thrive and recently pulled her NJ tube out - we rushed to the hospital and trialled NG feeds overnight which she tolerated, so now she is home tolerating on the NG. She occasionally vomits her reflux medication and hasn't required albumin for a month, however was treated for a week on iv antibiotic once again for an e-coli UTI. Megan's gut has probably matured. But regression is expected. We have weekly follow ups and bloods with our paediatrician to ensure all is going well. We have also just had a consult with a surgeon regarding gastrostomy's, a port for easy vein access and a possibly fundal application. We aren't rushing into anything!!
I don't know what the future holds for us, We spent 3 ½ months in hospital and doubt if that will be our last stay, we know Megan is a severe case but know all we can do is HOPE! She is a happy, bubbly baby who loves people and has come so far. Every day with her is a blessing and my husband and I feel positive and ready for whatever the future. She made it through when she wasn't supposed to, so I know she is here for a reason. Ask me in 20 years and I'll tell you that reason!
eff: Oct/31/06
A brief follow up!!!
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Megan
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Xmas 2006, Megan decided to go slightly blue around the lips and an 120mls pericardial effusion was discovered around her heart requiring immediate draining in ICU. After about a week all was going well until her feeding tube perforated her bowel and she became chronically septic, she recovered from this then the pericardial effusion re-occured and we required a pericardial window to be put in. A T tube was put into the bowel perforation and we decided to take her home with this and feed her through it as in was in her small bowel in the perfect spot. The drama continues. She gets the flu in May 07 and her bowel stops working......don't worry it started again.
June 07, we return and have a new gastrostomy and a nissen fundo done, the operation has stopped the vomitting which is brillant but she continues to gag sporatically. Her hypoglycemia (HIH) has proved a constant issue when fasting but Diaxoide seems to do the trick prior to surgery. She is on continuous feeds with only 2 hours off a day which her sugars seem to cope with fine, I might say the glucagon injection is never too far away though.
Her kidneys also leak protein occasionally for an unknown reason causing her albumim to drop......sometimes.....Her liver also has cirrosis so we have started a new med called URSO which will hopefully help. She is also on Losec, Zantac and E-mycin (for gastric emptying).
Things CDG 1a has taught me.... It has lots of symptoms of 1b and every child is individual and having a child so unique teaches you to be patient while the experts debate what she will do next! My daughter is wonderful, she is happy and laughs alot, she is even happy to see the paediatrician, she is complex but when your living it as the parent that doesn't seem to really matter?! She is 13 months now and we are no closer to figuring her out.......have just learn't to accept it and go with the flow! Megan now seems to enjoy licking food...One day she will eat!
eff: Aug/01/07