I have had a hard time getting started on writing this post. It’s been difficult because the next few months of Kate’s story were very difficult for us and culminated into an acute life threatening event for Kate that probably could have been prevented. If I knew then what I know now, we could have prevented what happened on April 23rd – but I didn’t, and reflecting back on the events of April and May 2009 is still very difficult for me.
We were still waiting for test results from the February muscle biopsy. I guess back then, I was less informed about how long it actually takes to perform the complicated tests and analysis required when screening for obscure metabolic conditions. I spent a lot of time in between February and April 2009 speaking with the metabolics team – particularly the resident to Dr.C – and pushing for information. I know now that I was pushing for answers – but I was also looking for medical support, leadership and coordination of Kate’s case. We felt adrift when it came to Kate’s care and we had a sense of foreboding that something serious was going to happen and we would be ill equippped to manage the situation. It seemed to me at that time that metabolics was the obvious ‘lead’ for Kate’s case as they were taking on most of the investigation.
The metabolic team were looking at: respiratory chain enzymes and disorders of mitochondrial energy production with the idea that affected enzymes would then point to what genes might be affected and could be further investigated. Of note: the team had also ruled out Schwamman Diamond Syndrome. We made a list of issues we were following and ongoing questions we had for metabolics. We wanted to better understand Kate’s sideroblastic anemia, the increased alanine that kept recurring in her blood tests, and what interventions we could consider to keep her well.
On March 19th, I called the resident for metabolics again to tell her Kate seemed ‘off’. That she had been demonstrating the same symptoms we had seen before when she was starting an ‘episode’. It was made clear to us at that time, that they were not interested in Kate’s symptoms or how she was feeling since they were not Kate’s pediatrician or primary care team, and were not who we should consult when Kate was having an episode. I felt frustrated and alone.
By April 1st Kate was still unwell. We had been rocking her and trying to keep her calm day and night.. She had no specific symptoms other than constantly crying, lethargic, and refusing to eat or drink. I took her to see Dr.S our pediatrician who noted nothing obvious after examining Kate, i.e. no focus or infectious process that would be making her unwell. I took the opportunity to discuss the stress we were feeling over Kate’s situation and the lack of leadership on her case. We felt that no one seemed to be ‘in charge’ within CHEO and among the various specialists, and we were not sure who we were supposed to consult about Kate and when. We thought a meeting of the specialists involved in Kate’s case would be important. We wanted to have everyone on the same page and have a focused effort on what all the different specialists were doing to help Kate. What we were asking for – but just didn’t realize it at the time – was case coordination for Kate. Dr.S understood the stress we were feeling and thought a phone call to ‘patient relations’ at CHEO might be a good idea. Patient relations help families to navigate difficult situations within the hospital – and they might be able to provide some assistance in facilitating better coordination of Kate’s case. In the meantime, Dr.S spoke with Dr.C and they both agreed that a ‘case conference’ to discuss Kate’s case would be an important next step.
April 6th, we met with Kate’s neurologist, Dr.D. We discussed findings in Kate’s bloodwork that he felt were important including low levels of carnitine and possibly supplementing her with co-enzyme Q10. We also reviewed the medication that Kate was on that was hoped to help her episodes, cyproheptadine, and the suggestion to start on a carnitine supplement. Dr. D had also ordered an EEG for the following day to check for seizure activity in Kate. We had reported that Kate had been ‘shaking’ and ‘rolling her eyes’ during the most recent episode. Kate did well during the procedure and to this day, we are not aware of any neurological seizures. She continues to have significant shaking during episodes which is now suspected to be a reaction to acute hypoglycemia.
April 20th, we finally had a sit down meeting with Dr.C from metabolics to discuss the muscle biopsy results, bloodwork findings and next steps in the investigation into the underlying condition affecting Kate. Having a conversation with Dr.C is like taking a crash course in micro-biology, bio-chemistry, physiology, and genetics all at the same time. Dr.C talked about enzyme respiratory tests, oxidative phosphorylation tests, mitochondrial DNA deletion, and increased alanine levels. Dr.C also wanted to discuss 2 new diagnostic theories concerning Kate: Pearson Syndrome as a metabolic condition and Thiamine Resistant Myeloblastic Anemia (TRMA) of which microcytic anemia and hearing loss are symptoms. TRMA is also associated with diabetes so more bloodwork would need to be done to verify Kate’s blood glucose levels. Dr.C wanted to start Kate on thiamine right away and would repeat bloodwork in 4 weeks to see if Kate’s microcytic (sideroblastic) anemia responded to the treatment.
Dr.C also broached the subject with us of referring Kate to a colleague for a second opinion. This was the first time a second opinion had been mentioned to us.
Dr.C addressed the issue of a ‘diagnostic lead’ for Kate. While he did not volunteer for this role, he did tell us that he is often the doctor who deals with more ‘obscure’ cases because that is the reality of the metabolics/genetics world of medicine. He did not give us a clear opinion or direction on how to handle Kate’s episodes, but made clear he was not the lead for her case.
We still did not have a lead for Kate and we were feeling scared and frustrated. We knew Kate was unwell. Her quality of life was being significantly affected by her medical conditions and frequent episodes. Her development was falling behind, and we were exhausted caring for her. We didn’t know how to help her and we felt she was unsafe. We didn’t know what to do – and we felt like we weren’t getting help.
April 22nd we contacted Dr.S again as Kate was unwell and vomiting. We asked again for a ‘team meeting’ that had still not been scheduled and our interest in the second opinion that Dr.C suggested. We began to take matters into our own hands as desperate and scared parents and we contacted Sick Kids about how to see a metabolic specialist, we also visited the renowned Mayo Clinic website about the process for being referrred there and discussed a referral from DrS. I started to build a comprehensive file on Kate and used my starting point with a summary document a medical resident had developed on her own from Kate’s voluminous chart. I also place a phone call to the patient and family representative at CHEO asking for help with Kate within CHEO.
April 23rd, Kate is still very unwell. I am concerned as she had been vomiting for the previous 24 hours, but had stopped vomiting overnight continuing to ‘dry heave’ between bouts of intense crying. I had not slept all night, and neither had Kate. We waited until morning and then contacted Dr.S about seeing Kate again. Kate was lethargic, pale, listless and she had stopped crying. She was still wetting diapers, which we were using as our indicator for adequate hydration – we didn’t know at the time that Kate was having renal failure and could not concentrate her urine. The fact that her eyes were sunken, lips dry and and chapped, and Kate was not making tears had failed to get our attention. The signs of severe dehydration were sublte to us then. We discussed with Dr.S using the Rx for chloral hydrate to sedate Kate to help her get some sleep, but when we arrived home I decided against it. Kate looked so extremely unwell I was scared for her to go to sleep, we knew we needed to take her to the emergency department at CHEO. We packed our bags and went at 5 p.m. that day.