? Amy and Friends - Cockayne Syndrome Support

  Ernesto Castaneda

My pregnancy was completely normal and I had no complications when the time of delivery, last week with labour pains and my baby was born on May 27, 2005 at 8:20 am weighing 9 pounds and 18inches long. But he did not cry when he was born and his face was purplish as during the delivery my baby was without air, my husband told the doctors that something was wrong and they took him to check him over, it took two hours until the Dr brought me my baby.

We spent three days in the hospital but the only thing I was told was fluid in the ears had been found during their study. On the third day we left the hospital everything was all normal, he ate well, sleep well all night, but something I realised was in his eyes that they moved far to the sides, but I thought it was normal.

At Ernie’s two month check up and vaccination the Dr told me he was going to put some drops in his eyes, that is when he noticed his eyes were both cloudy but especially the right. We were sent straight to a specialist eye Dr who recognised cataracts for which he needed surgery.

After the surgery he did not see any thing so needed to wear lenses and contacts. As time passed Ernie did not gain weight, his head was not growing and he sunburnt very easily. No doctors really know what my baby had.

Ernie would eat any thing sweet like chicken soup and yoghurt but never gained weight so at one year and 2months old our doctor recommended putting a Gtube through the stomach to help increase his weight by feeding him high calorie milk. Once to Gtube was fitted Ernie no longer wanted to eat by mouth as he was being fed through the feeding machine from 7pm till 8am and during the day every 4hours, the speed and heaviness of the milk were soon changed, Ernie was given a lower calorie milk at a slower pace. The next problem to start was his ears, Ernie had to have surgery were they inserted small tubes into his ears to drain the liquid, we had check ups every 6 months and every 2 years the tubes were changed.

At 3 years old Ernie continued to put on weight slowely and had not grown much length. Although the tube in the stomach had helped him gain weight, doctors decided to take a blood test and send it to Boston, within a month I had a meeting with a geneticist who revealed the results of the blood test showed Ernie had Cockayne syndrome and microfalia, I was told this was a rare syndrome and I should enjoy my child as the maximum life expectancy was 5 years. At home I researched on the internet as I did not like what future the doctor had given us. I realised I was not alone when I found Share and Care and I found there were many angels like Ernesto. I got to meet other children with Cockayne syndrome and I realised their health problems were like my Ernies.

When he was 4 years old a study was undertaken on his kidneys and the blood of the kidney to see why he had high pressure every day, he was given medication to control it, I wanted to heal him. Despite of his health problems I was always glad he like books and music and was happy when ever I walked in the trailer or he would go with dad driving. He always enjoyed kindergarten from 8:30am till 2pm (I left him he with teachers) and then when he started preschool he would enjoy being there for 3 hours a day (I stayed with him.) For two years Ernie had occupational therapy and a CCS program provided me with equipment we needed like his wheel chair, walker and chair in the bathroom.

In the February Ernie began to be sad and wanted to be asleep a lot of the time. I told the paediatrician that he had always slept two hours when arriving home from school and in the afternoon he would spend 30 minutes in his walker have a nap then another 20minutes in his walker, but he no longer wanted to do anything. The doctors did a head study and MRI but the results were good, my Ernie was still sad and did not want to do anything but sleep. The first week of April he began with a cough and phlegm so I took him to the doctors, they did an xray on his lungs, but every thing was fine, there was no virus. The cough left and then on April 18th retuned, he would also snore. On April 20th he was checked in with the same bad cough and low oxygen, another xray study of the lungs was taken and the results were that he had a macho in his lung that was on the pneumonia principle. We were taken to the hospital in an ambulance because they had to give him oxygen, we arrived at the hospital on April 20th at 3pm and within them next 2 hours blood tests were taken and I could not control my crying as I did not know if we would still have Ernie by nightfall. Ernie lungs were hurting and the nurse fave him taylenol pure which helped calm him a bit. The doctors thought Ernie had a virus but started him on medication incase it was pneumonia. Radiographs of his lungs were taken and the left lung had a lot of liquid so they stopped the medication to help him. Ernie became more ill as every minute passed by. I told them I wanted to be switched to a specialist hospital but the doctor told me than they would bring me a lung specialist from the hospital and to trust them. This lung specialist never arrived.

A doctor could hear the phlegm in Ernies chest and gave orders that a tube should be put through his nose and mucus pure extracted, this was done from 8-11pm. They took away the oxygen as they felt the drug was helping him. On April 23rd the Doctors looked like he knew Ernie was dying but did not say any thing until the last minute when they Ernies oxygen levels went down to 60 they decided to move him to intensive care room and used a more advanced machine that they put the tube down into his lung to help him breath. I knew he had took to long. 30 minutes passed and then a nurse told us Ernie was dying, I could not believe I had to watch this happen. Neither me nor the doctor knew what had happended so we decided to wait for the autopsy, as me and my husband did not accept medical dilegancia.

Our Angel changed our life, he was our joy and is missed by many. I still have the pain. Ernie was buried at the cemetery of San Jose CA.

The autopsy results arrived three weeks later showing there were four bacteria in his lungs
- Rubsiella
- Provetella
- Staph, Aureas
- Group B Strep

This was the cause of death of my Ernie and I wonder if other Cockayne syndrome children have the same pneumonia with these four bacteries.

I hope you have learnt from my son and I hope if you have questions let me know, I thank you sincerely, Gonzalez Elsie