On Wednesday, October 21st we started our second day off at the Mayo Clinic with a vist to phlebotomy for bloodkwork in advance of our first consultation with hematology. Our hematology visit wasn’t really remarkable. We went through Kate’s extensive medical history – again. (This wasn’t new to me, but was thoroughly exhausting). Family history, the story of Kate’s episodes and health, her history with anemia and current diagnosis of sideroblastic anemia, dietary history, vaccinations etc. – all followed by a general physical exam. Then I was asked for Kate’s bone marrow biopsy results, which I had with me in her binder. What I did not have were the actual slides. The hematologist wanted to see these before she would discuss Kate further, and started the process to order them from CHEO. We were then scheduled for another meeting later in the week once the slides had been reviewed and analyzed.
That same afternoon we met with Dr.Guftasen of the audiology clinic to review Kate’s hearing loss and discuss possible linkages to her underlying condition. A repeat audiogram was done – which wasn’t really remarkable or effective. Kate is never cooperative in the ‘sound booth’ for testing and doesn’t understand that she is supposed to respond when she hears something. Further, I was already having suspicions that Kate’s hearing loss had progressed and I did not think she was hearing with her hearing aids at that time. Dr.G really did not have much to add to Kate’s diagnostic mystery. He reviewed that genetic testing, infant screening and diagnostic imaging are not ideal to determine the ’cause’ of hearing loss. He did want Kate to have a CT of her inner ear structures – as her previous MRIs would only show soft tissue. A CT for Kate would require anesthesia, and Kate had had serious complications several months before, so all anesthetics were being avoided as much as possible. CT to examine structural deformities of the ear was not a priority for me.
We had been squeezed into the metabolics/genetics clinic by Dr.Lloyd, who had identified at our initial visit that Kate was not scheduled to see this specialty area despite the fact that this was clearly one of the key areas for investigation into her medical complexity. I had been aware before our visit to Mayo that we were not formally scheduled to see a metabolic specialist, but had made the wrong assumption that this would be covered in other ways. I was happy to sit down with them and review a detailed family genetic history. We had done this before with both CHEO and Sick Kids, and I knew our story well having made all the necessary phone calls to my parents, aunts, uncles, and grandparents to understand the full family genetic picture (it’s pretty amazing the things you find out). Thankfully there is nothing too complicated to report and the story is pretty straight forward. I was anxious to meet the metabolics physician, but this would not happen until later in the week.
Our second visit on this day would be with GI – gastroenterology.
I was impressed with Dr.Freese at our first introduction. She seemed well prepared to meet us having clearly read up on Kate and understanding the complexity of her medical situation. She asked many questions about liver enzymes, pancreatic function, kidney function, cardiac problems, xrays and ultrasounds. I gave her the history – which in a nutshell (at that time) was fine. She did not seem to be overly concerned about Kate’s slow GI functioning which has caused many issues with constipation. She felt there was a bigger concern to address, and indicated to us that she felt Kate’s GI was not the ‘root’ of Kate’s issues, but may be a resultant impact. We discussed the problems with Kate’s spinal column and her odd presentation of a spinal syrinx, but that this would impact the bladder and legs more so than the bowel. The bowel has its own nervous system. She did talk about developmental delay being a cause as it is quite possible her body is not getting proper signals from her brain about the ‘need to go’.
To this day, as I read back on these notes, I feel Dr.Freese was bang on. Kate has all the language for potty and understands being ‘dirty’. She loves the routine of toileting and follows all the steps. Yet when she wets herself when not wearing pull ups, she seems surprised. Her brain is not telling her she needs to go. And I wonder if this ‘signal’ will ever happen?
Dr.Freese then asked about the vomiting. Does she always vomit? When she vomits is it ‘spit up’ or ‘projectile’? Does she vomit multiple times? Is it repetitive?
I never thought in a million years that vomiting, vomit, emesis, throwing up, forceful expulsion of one’s stomach contents would become such a central part of my life. Since Kate was born, it has become routine and part of our pattern to deal with incessant vomit. Carpets have had shortened lives in our home, as have bed linens too. (Sometimes you just have to roll them up and throw them out). The number of rags in my broom closet is astounding – who needs that many? Well you do when you are constantly wiping up vomit. I am so thankful that our couch and chairs are covered in an ‘easy to clean’ fabric? Would you believe our off-white couch is still going strong despite the many times Kate has vomited on it? Astounding.
Dr.Freese felt that Kate’s vomiting was possibly caused by something called ‘migraine variant syndrome’ or ‘cyclical vomiting syndrome’. Essentially, Kate’s syndrom was likely abdominal in nature and thus the pain and associated constipation – along with vomiting. What we have come to learn since is that Kate does likely have a form of CVS, but CVS is a description of a manisfestation of an underlying issue (in Kate’s case ‘inflammatory cascade’…another description), and when it resolves, i.e. the vomiting stops, recovery is fast. This is not the case with Kate. There are treatments available to control the nausea and vomiting, and there are others that can help with prevention – some of which we had tried before with Kate and had not worked. These drugs mainly work with the neurological system to ‘prevent’ the migraine from happening, but in Kate’s case her immune system may be at fault and causing the disconsonance with her neurological system and the rest of her body. But that is why were there, to hear opinions and get another perspective concerning Kate. Dr.Freese was the first specialist at Mayo who was very engaged in our purpose for being there.
Dr.Freese then gave her insight into what she thought might be happening metabolically and wanted to add to their analysis and testing additional bloodwork. She wanted to be clear if this was a GI issue (cyclical vomiting) or a metabolic issue. Further she wanted to order tests…
As I said before, and you all know this, health care in the States is expensive. I guess as expensive as it would be if we did not have health care in Canada. I had to be very careful about doing any tests or procedures while there and ensure they were first approved by our Canadian Medical Network advisor. Dr.Freese wanted to order gastric emptying tests, abdominal CT (when Kate was having an episode) and an edoscopy. I agreed to none.
Gastric emptying had been done before and we already knew there were no structural abnormalities or intussusception. I also would not do any tests (such as a CT) that required anesthesia. As for the scope, it was not urgent and could be done at home with results sent back to Mayo.
Our long day was not over as we met Dr.Kenneth Mack, my favorite of the specialists we met at Mayo. Equally prepared, engaged and very thoughtful into Kate’s medical complexity. No notes from this visit, as I recall it had been a long day for Kate and my mom was caring for her/entertaining her while I tried to listen attentively. Most of the visit was conducted by the senior resident – more history review. Dr.Mack would see again at another clinic time, he had some further inquiry to do into Kate and then wanted to have a more detailed discussion.