Wayne, William, and I arrived home last night after our three day trip to Children's Hospital of Philadelphia. Honestly, I am having a difficult time writing any kind of reflection on the trip. Our main goal in meeting with a top Neurologist at CHOP was to get a second opinion on how to achieve seizure control. We also had Genetics at Strong send all William's records. It was a full day for William at CHOP. He had an EEG to monitor brain activity and seizures followed by a four hour appointment with Dr. Bergqvist! Overall the visit was definitely worthwhile and productive but also emotionally exhausting. The doctor was visibly surprised by the lack of white matter in the MRI of William's brain. (It was her first time viewing his MRI with us) She admitted that it was rare but she had seen an MRI just like his recently. Unfortunately the child had just passed away. This was incredibly hard to hear and didn't start the appointment off on the best note. I refrained from asking how old the child had been as Dr. B proceeded to tell us that children with William's condition usually do not live a long life and asked if we had a palliative care team set up. This was NOT a complete shock to us but still very difficult to hear from another neurologist. She explained that given William's lack of almost all white matter in the brain it is unlikely that he will progress past an infant like stage. My understanding is that the white matter in the brain transmits signals to the the rest of the body on how to move, see, etc. The doctor also feels that seizure control is not likely to be completely achieved yet gave us several ideas for new medications/ combinations to try. She encouraged us to consider the Ketogenic diet again with better reflux management and a g-tube. We expressed that so far William loves to eat and still has the ability to; so we are not ready to proceed with a g-tube . If/ when he does require a g-tube to feed we may revisit the Keto diet with her assistance. She also recommended a repeat MRI as he is now older and that we continue to pursue genetic testing. In the upcoming months she offered to share his MRI and records with both Genetics and Radiology at CHOP to get more opinions on causes for the malformation and future treatments. She may also send his information to Dr. Dobyns in Chicago; who I believe specializes in lissencephaly and other brain conditions. Meanwhile we will have another appointment with Dr. Mink (Strong Neurology) to discuss the meds she recommended and talk about a repeat MRI. I am very grateful that she is willing to help us gather more information/opinions and try to figure out what the best choices should be for our sweet William. At home we will continue to challenge him to achieve new things- regardless. It is very difficult for me to make choices about quality of life for my Will Man. Some things are obvious; he is part of a loving family that cherishes him as he is. He loves all kinds of music and being with Ella. He smiles when he hears other children and loves a bright sunny warm day. Yet there are difficult decisions. Is it better quality of life for him to be seizing multiple times daily or to be over medicated and sleepy? To be able to enjoy food by mouth while he is able or should a diet to control seizures be the first priority? It is hard to know what the best choice is... and what worked best for Will a year ago is failing now. It good to know that we have excellent doctors working with us; top minds from different Hospitals working to give William the best life possible.
As an end note: we all got some nasty cold germ that seemed to appear last night. The whole family is sick on the couch.... so I hope this post is put together somewhat well and makes sense!! :-)