Christopher Jeremiah was a repeat section born October 18th at 12.49 p.m. 6lbs 1.3oz, 19 3/4 inches long. We had a great morning with our 20 month old son Ben. We drove to the hospital at 10 a.m. to check in for the c section. The contractions were every 3 – 5 minutes and they were getting painful so we knew the baby was ready to come.
After Christopher was delivered he was limp and he didn’t try to take a breath. As soon as they realized he was in trouble everyone in the room except our OB and her assistant started working on him. Everyone was tense and they told us things didn’t look good. There was no time to move him so he was in the room and we could hear everything the doctors were saying as they tried to keep him alive.
It took a full 20 minutes to stabilize him. They had to do chest compressions and breath for him the entire time. God blessed us with an anesthesiologist able to intubate him. When the code blue was called there was a pediatric doctor at the front desk and a neonatologist from Swedish 5 minutes away who was able to come in and work on him.
Once he was stable enough they moved him out of the room and finished up with me. Things were still touch and go and they needed him to be more stable to transport him to Swedish NICU. The diagnosis for the first few days was fetal distress but the doctors began to suspect that Christopher had more going on after the first few days. Christopher was born with low tone and didn’t move much.
Christopher was in the NICU at Swedish First Hill for 3 weeks. He was moved from the NICU to the PICU at 3 weeks 1day. We really liked the Swedish PICU staff and they took great care of him. They were able to get him growing steadily. Christopher had a bunch of tests in the NICU but all were negative. By the time he moved to the PICU at Swedish we were ready to do a muscle biopsy. It was a challenge for them to do the biopsy because of how little he was and because the sample needed to be processed at Children’s. They worked everything out and Christopher had the biopsy and our doctor personally drove the muscle tissue to Children’s in 23 minutes. It had to be processed within 30 minutes.
We received a diagnosis on November 30th at 4.30 p.m.. The doctor called and wanted both me and Brandon to come in to hear the news together. The diagnosis is Myotubular Myopothy, there are three types they immediately told us – they think he has a severe form of X Linked which is the most common form. He is going to have blood tests to confirm X Linked.
After we knew the diagnosis we knew we needed to move Christopher to Children’s Hospital because he would need a trach and possibly a G-tube. We were very nervous about moving so we went over and toured the Children’s PICU before he was moved.
On December 7th Christopher moved to Children’s Hospital PICU. It was a hard transition for us. The drive is about 15 – 20 extra minutes for us and the environment has been challenging to adjust to. Being a teaching hospital means there are a lot of people around and it has been difficult to get to know the new doctors and nurses. We felt pretty lost for the first few weeks.
Christopher got a blood infection about a week after moving to Children’s which delayed him having surgery. They also discovered he had a bowel malrotation so they added a ladds procedure to his surgery list. On December 27th he was finally able to have his trach, G-tube, and ladds procedure. Christopher healed quickly and smoothly and moved to ‘the floor’ in less then 2 weeks.
The transition to the floor went smoothly because of the attending physician Sam spent a lot of time getting to know us and what we wanted for Christopher. We thank God that we were able to get connected and feel comfortable with Christopher’s new team relatively quickly. The Pulmonology team on ‘the floor’ will follow Christopher for the rest of his life. His biggest challenge is keeping healthy lungs and that’s what they do.
Christopher is scheduled to be released from Children’s at the end of February. The biggest hurdle will be finding home nursing to help us with his care. Christopher needs nasal and mouth suctioning frequently. He doesn’t protect his airway so he very easily aspirates liquid into his lungs. For this reason he has a G-tube and food pump. He requires trach suctioning frequently in the mornings and every few hours during the day. Suction is important to keep his lungs from getting sticky and collapsing or developed pneumonia.
Thankfully Christopher’s strength has steadily improved as well as his spontaneous movement. He is requiring less suctioning the older he gets. He is doing quite well considering the doom and gloom we were given when we first learned his diagnosis. We have been very blessed to see him smiling up at us and putting his hands in his mouth.
Christopher’s Genetics test have now come back from University of Chicago. X-Linked MTM has been confirmed and they identified the exact mutation. There are about 160 mutations I think. His mutation is (p.R520X). He is the only child confirmed with this mutation that the lab has tested. They have tested two other women who are carriers of the same mutation. We were hoping that if his mutation was identified we would have other children to look to for a fuzzy guide of how he will develop. Since that is not an option we will take his development a day at a time. One positive that came out of the DNA test is that we know the place in his DNA were the mutation occurred is at the lower end of the strand. This means that the fiber is able to complete say 75% of its sequence before it comes to the abnormal stopping point. So Christopher is at the milder end of the spectrum of severe X-Linked MTM. What that means no one knows. We are going to participate in a study by Beggs Laboratory in Boston. They are collecting medical records, muscle tissue, and blood samples of people with muscular disorders as well as their families. So that’s the end of testing for Christopher.