My pregnancy was no different from my first, just with a little more morning sickness. I did however notice a lot less movement than with my daughter. My son Rocket was born on August 22nd 2006, two weeks early, only 3 hours after we got to the hospital.
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Rocket just born.
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Right away the nurse noticed he had breathing problems and put it down to possibly inhaling some meconium. He was sent to the nursery to see a pediatrician who then sent him up to the NICU to receive oxygen. He was only on oxygen for that first evening but ended up staying in the NICU for 4 days awaiting blood test results. They were worried about infection of some sort. I would go up to him every 3 hours to breast-feed and he seemed to have a good suck and to feed well. He was the sweetest little baby with loads of thick black hair. We all remarked on his funny looking ears and small bum and unusually long feet. I was thinking hooray, maybe he will be tall! Luckily, all the tests came back normal and we went home. At our 1 week check up with our pediatrician he was worried about Rocket's weight gain. He had only gained 2 oz in a week when it should have been closer to an ounce a day. I didn't think he seemed that small and he did seem to be eating. He would suck and definitely swallow, but seemed to get tired after only a few minutes. Therefore his feeds were never longer than about 5 mins instead of the 20-25 minutes they were with my healthy daughter. We went back at 2 weeks and he was still worried. He asked me to pump milk and top him up from a bottle after every feed. He wasn't keen on the bottles but he did take some. At about this point he started having very explosive bowel movements and seemed to be developing a red rash all over his face and body. At our 3 week visit, the pediatrician was even more concerned.
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Meeting his big sister Finch.
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He still had not regained his birth weight so I was told to top him up with formula, 2-3oz every 2 hours.
Rocket did not like this at all and would not touch the stuff. I think I managed to get him to take about 2oz a day! At this point our pediatrician ordered some blood work and when the liver panel came back saying elevated liver enzymes he referred us to a gastro-enterologist. A week later we went to see him and upon examining Rocket he immediately told me to stop breast feeding and start Rocket on Neocate. He thought his problem was a very severe milk allergy. We tried this for a week and he gained 1oz a day for that week!
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Diagnosed with CDG 10 weeks old
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We were thrilled and as upset as I was at not being able to breastfeed I was hopeful that all our problems were over and that now our little rocket would "blast off"! We checked his liver enzymes once a week and they continued to climb. At 6 weeks old we had a liver biopsy performed which showed fat deposits in his liver. No one could understand what this meant. We also went to a nephrologist as when doing the liver biopsy they noticed calcium deposits in his kidneys. We still do not know what this means.
Then Rocket's liver enzymes starting going down. We finally thought whatever this was, it was going away. All his doctors thought it was stress from birth and the milk allergy and that things would now go back to normal. Finally we could relax and enjoy this time. My poor daughter had been dragged around with us to doctors 3 times a week, it was nice to know it was all coming to an end. Two weeks later the numbers were at their highest, I think in the 900's. Our gastro-enterologist referred us to Children's Hospital and Rocket was admitted for worry of liver failure.
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I am 1!
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Within a week of being there, Dr Randolph in medical genetics was fairly sure of CDG. They ran a test in house and it came back abnormal. Suddenly we realized that whatever this thing was that our son had, it was now not just going to go away.
The signs were all there. Inverted nipples, long feet. He also had had persistent ear infections since about 2 weeks old. Rocket was diagnosed with Type 1a in January 2007 at 5months old.
We started with the Regional Center and Rocket spent 2007 in physical, occupational, and vision therapy, as well as child development. We had his eyes tested once we got the diagnosis and he got glasses that same month with a prescription of -11 in both eyes. A cardiologist discovered hypertrophic cardiomyopathy. We now knew what our boy had but trying to deal with it was heartbreaking. We struggled to get through each day not knowing how long he would be around.
What a strong, brave boy he turned out to be. With speech and feeding therapy added in 2008, Rocket had 8 therapy sessions a week and still routine doctor visits. Yet only once did he ever push a doctor away. He greeted all his therapists with kisses and smiles even though what they had him do made him cry. He would even give kisses to the ladies in the blood lab before they drew blood once a month.
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Meeting his baby sister Evie
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In October 2007 we noticed frequent staring spells and a neurologist ordered an EEG. Rocket was having seizures, multiple times a day. He was started on Phenobarbital and they did start to happen a lot less frequently, but never stopped entirely.
After managing to eat enough by bottle for over a year, his weight became too unsteady and we had to have a g-tube placed in December 2007 when Rocket was 15months old. He caught a stomach bug and stopped eating entirely. He lost 2 lbs in a week and ended up in the hospital with severe dehydration. He had the g-tube placed while there.
A week after he got home I gave birth to our third child, a daughter, Evie. What a wonderful Christmas we had.
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Chasing Finch in his stander
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By the time Rocket turned 2 in August 2008, he was still unable to sit up unassisted. He could tolerate his tummy but only if he put himself on it. He started rolling from back to tummy at 20 months. This was how he would get to things. A toy out of reach or his mummy or daddy.
Rocket never complained and was always the happiest person around. When I would take him for walks, people I didn't even know would say hi to him. Apparently he had met them before on a walk with his Granny or our nanny. He was hospitalized again in March 2008 with pneumonia, but came home after only 3 days of IV fluids and antibiotics. Apart from that, he was pretty healthy and getting so strong. His seizures were a worry though, and we were switching from Phenobarbital to Keppra when Rocket got an infection of some sort in November 2008.
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2 years old
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He had been sick for about 3 days when we took him to the hospital, thinking he would get some fluids for a few days and be home again. Rocket died that night. It was very quick and totally unexpected. We sat in the ER for 4 hours with him receiving fluids. We were sure that was all he needed. I guess, so were the doctors as no one noticed him slipping away. His breathing got very labored and he was rushed up to the PICU. They sedated him and put him on a ventilator. They inserted a central line to administer meds and draw blood. I was at home at this point with our daughters and my husband was there with Rocket. He called me at 11:30pm and told me to get to the hospital. Within 20minutes of me being there, Rocket's heart stopped. They performed CPR and he was revived twice. We were told it would keep happening and it was futile to keep trying to save him. The damage to his brain was too significant. When his heart stopped a third time we told them to stop. My beautiful, handsome, perfect boy died that night at 1:23am. I was crushed.
They believe he had RSV and Acute Respiratory Distress Syndrome. His body just could not fight anymore. The reason I am giving so much detail about this night is that I feel it may help someone save their child. Rocket had been doing so well that my husband and I just did not feel that anything could happen to him. He was far too healthy to die. We did not realize the strength of his infection. We did not push the doctors to check him out more in the ER because he was getting fluids, we felt that that was all he needed. If it was a stomach bug, antibiotics would do no good.
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Our family
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It has now been a month since he died and we are struggling. It was Evie's 1st birthday on Dec 14th. Her brother missed it by a month. Throughout Rocket's 2yrs here, this website and listserve have been a tremendous help and support to me. Rocket and I would not have got as far as we did without it. Thank you to all the families who helped us along this path. The information I received from parents of kids with CDG was far better than any I received from doctors. Out of Rocket's 11 doctors, only one of them had heard of CDG.
I also have to thank Dr Hudson Freeze. He is an amazing man and a wonderful hope for all the CDG kids out there. The work he is doing at Burnham is incredible and my family will continue to support him in all of his efforts. Thank you Dr Freeze.
eff: 12/16/08