The spring of 2009 was extremely difficult for Kate. She was chronically unwell and suffered a major episode of what we now know was Cyclical Vomiting Plus Syndrome. Along with that episode, Kate suffered other complications that resulted in her being admitted to the pediatric intensive care unit at CHEO. Even after discharge, Kate continued to suffer from fatigue, lethargy, irritability, chronic constipation and feeding difficulties. We had some hope for progress; there were many diseases being investigated as possible underlying causes for Kate’s increasing list of medical conditions, and the medical team had met to discuss the need for a second opinion in several areas as well as better case coordination for Kate. We had been struggling to find help for Kate, and had felt very frustrated with the journey so far – so the hope for case coordination really lifted our spirits. At the same time, we had begun looking into our own second opinion possibilities at the renowned Mayo Clinic in the US, which seemed to be the best option of the several we investigated, to take a comprehensive look at Kate’s case.
Metabolics: Kate had been treated for several months now with a thiamine supplement in hopes that her blood disorder might be a form of Thiamine Resistant Myeloblastic Anemia, however after several months of treatment there was no change to Kate’s hemoglobin level or mean cell volume (a measure of the average red blood cell size). Further, genetic mapping for TRMA showed no abnormalities. Kate stayed on thiamine supplementation for a few more weeks, but in the end this treatment for her anemia was abandoned.
Gastroenterology: Kate had a small bowel follow through procedure in May to examine how her bowel was functioning and look for any structural abnormalities. This is a nasty procedure that required Kate to drink ‘barium contrast’. I tried to deliver it to Kate in her bottle, but after the first few sips she quickly realized this was not her regular formula. (If you’ve ever tasted barium you’ll know it has a nasty chalky taste). The nurse came by to see how much Kate had ingested and told me she had to drink at least an entire 12 ounce bottle. I wasn’t sure how this was going to happen, and felt pretty frustrated that this was the only way to get contrast into Kate. I mean, we were at a pediatric hospital you would think there would a better process? Eventually after much struggle with the bottle and barium contrast being spit up on me and the floor, I asked the nurse for a large syringe so that I could syringe the contrast into Kate. This took another 20-30 minutes and more struggling and crying, but eventually the contrast solution was dispensed to her little gut so we could proceed to the x-ray.
X-ray for small bowel follow through (SBFT) is a 2-3 step process. You capture the first image right away as the barium starts its decent through the bowel and then you repeat the image 20 and 40 minutes later to see how it has proceeded along its winding route, noting blockages, obstructions, or structural oddities. Kate’s SBFT showed constipation and a secum that was not fully descended. Neither was a huge concern, but indicative of Kate’s persistent and systemic hypotonia lending itself to a sluggish digestive system. There was some concern about whether or not Kate might be having some sort of bowel rotation during her episodes – which would explain her pain. This could only be investigated during an actual episode by x-ray, so we would have to wait until Kate was unwell again and have gastroenterology paged.
Kate continued to be treated for her reflux (GERD) and was prescribed polyethylene glycol – better known as PEG 3350. PEG is a osmotic-type laxative that works by holding water in the stool to soften it and increase the number of bowel movements. Kate continues to take PEG almost daily.
Sick Kids Hospital: In June 2009 we had our first consultation with a specialist at Toronto Sick Kids Hospital for a second opinion on a diagnosis for Kate. We met with a specialist from neuro-metabolics, Dr.Teine. As we drove to Toronto, Brian and I made a list of our goals for the meeting. First and foremost we wanted a diagnosis for Kate. If that wasn’t possible we wanted to better understand how to keep Kate safe and feeling well. Was there a treatment for Kate? We were no longer comfortable with the watching and waiting approach to her care and wanted more decisive action.
Dr.Teine talked about mitochondrial disease and Kate’s bowel issues. She felt this was the strongest clue to what might be going on with Kate. She suggested we video Kate’s future episodes for her specialists to give them a better understanding of what was happening at home. She also wanted Kate tested for Rett Syndrome and MNGIE (which is a form of mitochondrial disease). When she explained to us what these two conditions were about, we could not believe this might be what was happening to Kate. However, at the same time as feeling upset and anxious, we felt hopeful that there might be another area of investigation we had yet to explore,.
This is the true emotion of parents caught up in diagnostic limbo – sometimes the horrible and awful diagnosis can be better than the not knowing.
Orthopedics: Kate has been referred to orthopedics by neurology. Kate is still not walking at the age of 20 months and there is some concern as to whether or not she has a curvature in her spine. Upon examination, Kate is felt to have only a mild curvature and that it should not be impeding her ability to walk.
General Pediatrics: After the May 2009 medical team conference about Kate, it was decided by all of the specialists in the room (about 10 at that point) that Kate’s case clearly required coordination within the hospital. We felt very happy about this assessment as we had been struggling to be Kate’s ‘case coordinators’ and medical advocates for close to a year, a role that is very difficult for parents to maintain. Unfortunately, despite the best intentions of this team of medical specialists CHEO had no program in place or infrastructure set up to facilitate case coordination for a medically complex child being followed by several different specialists within the hospital. Eventually it was decided that Kate would be referred to general pediatrics, with the idea that a pediatrician from this clinic could perform the function of case coordination. Despite 3 different referrals to general peds at CHEO, and follow-up phone calls from Dr.S, discharge planning and social work, we never once heard from them.
Mayo Clinic: In collaboration with our consultant pediatrician, Dr.S, Brian and I had started the ball rolling for a visit to the Mayo Clinic pediatric facility in Rochester Minnesota. Preparing the referral package that was to be sent to Mayo fell to me, and it was a very detailed and process. Mayo required extensive documentation about Kate: doctors notes from GI, neurology, metabolics, genetics, hematology, endocrinology, neurosurgery, audiology, orthopedics; diagnostic imaging, including all of Kate’s MRI, MRA, MRS and CT scans; detailed bloodwork results from the last 12 months; muscle biopsy and skin tissue sampling; bone marrow biopsy sampling; and, hospital admission and discharge notes. I spent weeks pulling together the information, and included my own summary information and charting that I had begun to develop for Kate’s case. In the end, we pulled together 3 packages – one to be sent to Mayo, one for Dr.S, and one for my own records.
What we had not examined with respect to Mayo was ensuring whether or not OHIP (our provincial health insurance plan) would facilitate covering the costs for Mayo. In the end we had to delay our August meetings into October so that the insurance coverage could be sorted out.
In the meantime, CHEO had new lines of investigation for Kate’s underlying diagnosis that included: celiac disease (to explain her GI symptoms), myasthenia gravis, autoimmune disease, as well as following up on the diagnostic testing for MNGIE and Rett Syndrome as suggested by the neuro-metabolics consult at Sick Kids. There was also concern about Kate’s lack of weight gain since January 2009. We completed the out of country diagnostic forms required to undertake the testing and sat back to wait again hoping for some word about a diagnosis for Kate.
Sick Kids Toronto: In August 2009 we met Dr.Yigal Dror at Sick Kids for a second opinion from hematology about Kate’s unusual microcytic anemia which was highly suspected to be sideroblastic anemia. Dr. Dror reviewed Kate’s history with us – again we told the story of the pas 20 months in as much detail as we could. Dr. Dror thought Kate’s bone marrow biopsy (BMB) should be repeated to see if there are any changes in the red blood cells. If she did not have sideroblasts on her next BMB, then this would lead to other areas of investigation. He also had suggestions for additional diseases that may be causing her conditions. He was highly suspicious of Pearson Syndrome – an area of investigation already underway, and he also thought that Wolfram Syndrome was highly suspicious. Sideroblastic Anemia with Ataxia was also discussed and Dr.Dror suggested testing of the PUS1 gene if possible and suggested that Kate’s blood be sent to a facility specializing in sideroblastic anemia in Bishop, New York.
Dr.Dror was impressed with how provocative Kate’s underlying symptoms were and considered it very unlikely that they were unrelated. He also noted that it was important to fully investigate Kate and identify all of her underlying conditions so that she could be treated appropriately
In August 2009, we met with Kate’s neurologist Dr.D to review the specialists opinions from Sick Kids. What had become apparent was that we were no further ahead with answers, and that more diagnostic tests were being suggested to further investigate Kate. Repeat MRI, bloodwork, and muscle biopsy had all been recommended by Toronto. However, there were many outstanding tests whose results could have some bearing of what was going on, so we were not in a rush to put Kate through more invasive tests. We felt somewhat deflated from our hope that Sick Kids would have answers for us, and we felt frustrated by the continued gap in coordinated care for Kate within CHEO. We shifted our focus to our next plan. As her parents we were now putting a lot of hope in the renowned Mayo Clinic doctors and hoping that they would be able to help Kate. They examined and treated very sick children, and highly unusual cases all the time and we truly felt that they could help us find the answers we needed.