The end of our long week at the Mayo Clinic in Rochester Minnesota was coming to an end. There were still many conversations to have and specialists to meet. Kate was doing well. Her stamina was good, but she had a vomiting episode one night that had me worried we might start an episode while on our visit there. Thankfully that did not happen – though perhaps it may have led to more insight into her condition (?)
For a 2-year-old child, Kate handled the visit well. We still had to contend with entertaining her in waiting rooms, and ‘wrangle’ her during our meetings with specialists. Of course she had to be present – after all, this was all about her – but it would have been so much easier and less distracting to have her out of the room. In fact, in a few situations, my mom would leave the room with Kate and take her for a walk.
October 26th, 2009
We were having our second, and more in-depth meeting with medical metabolics, Dr.Gavrilova. She reviewed with us her impression of Kate’s history combined with test results such as recent bloodwork, and the muscle biopsy specimen from CHEO. She felt all symptoms pointed to mitochondrial disease.
As I have suggested before, being told you have mito is like being told you have cancer. There is incredible variability and severity in the disease. Some present as mild – and treatable/manageable, while other forms of the disease will undoubtedly result in death. Mito can strike many different organs and systems of the body – or multiple systems at the same time. It also strikes children and adults (i.e. it is not always a childhood disease).
For Kate, there was no specific amino acid abnormality that could be found – all were high. In the case of specific disease presentation for mito, if there are 2 or 3 high (for example), that helps to point to, or specify, a particular type of disease.
We discussed the testing that had been done by and/or coordinated by CHEO. Their testing had been extensive and has covered almost all the bases. Kate’s blood and muscle tissue had been sent to the McMaster University Health Sciences Centre, Baylor University in Texas, Columbia University, Boston etc.
Further, Dr.Gavrilova felt that if Kate had a form of mitochondrial disease she appeared to be on a milder form of the spectrum.
I found this an interesting comment/assumption this doctor how had not studied Kate extensively, nor had she done any of the primary testing or analysis of Kate. Further, she did not have a concrete diagnosis for Kate – so how could she make this assumption? I filed the comment in the “general comments” section of ongoing file in my mind re: Kate.
In discussing Kate, she described how her lactate were around 2.7, i.e. within normal range, but had been in the high range during her episodes. Elevated lactate is a typical symptom of mitochondrial disease. However, Kate’s muscle enzymes were fine, and there was no specific pattern to her symptoms that suggest a specific type of mito.
There are some well documented forms of mito that are described in the literature: MELAS, MERFF, MNGIE, Leigh’s syndrome etc. that have specific presentations of a cluster of symptoms and can be tested for via genetic/blood test.
Dr.Gavrilova also suggested that Kate undergo a second muscle biopsy and that a fresh sample of tissue should be analyzed – rather than frozen first as we the case in the first sample.
Dr.Mack – Neurology
This was our third visit to neurology at Mayo and our second with Dr.Kenneth Mack, who had appeared to have taken a keen interest in Kate. He was very well prepared with knowledge of her history and keen to help us sort out how to manage Kate more effectively in the absence of a diagnosis – though he did weigh in on that front as well.
I wanted to discuss pain management with Dr.Mack. Kate had a significant amount of pain with her episodes. Something I felt so deeply painful as a mom since her pain was not managed well. It is a caution to other parents with young, non-verbal, developmentally delayed children. They cry when they are in pain or distress, they have no other way of expressing it. And in my opinion, they are not ignored but they are also not assessed and treated as quickly as someone crying out with words. “Children cry” seems to be the understanding and to me – it appears it delays any intervention.
I feel like doctors are used to children crying and that this does not always call them to action. I felt so strongly about advocating for Kate’s pain management I did extensive reading on it for non-verbal children. I eventually sought out the pain management team at CHEO to assist me in assessing and treating Kate. What I found most distressing was working with teams of residents and doctors who did not know Kate who would take a very slow and controlled approach to administering pain medication. I can recall one visit where Kate was clearly in pain, I asked the nurse to get me the resident. When the junior resident came in and I described what I felt I was seeing and my request for morphine for Kate (which what we were using at the time), she said she would need to consult the ‘senior’ (senior resident). She was gone for more than 20 minutes. Now let me pause her and ask you – would you wait 20 minutes for pain management to even be assessed let alone administered? No – neither would I. I did not let Kate wait either, I called the on-call pain management doctor who arrived at Kate’s bedside before the senior resident did. He prescribed morphine for Kate.
This is the difficult of pain management in young children. I am grateful that I know what to do and who to call, and I realize the assessment for Kate is made more difficult because her lack of case coordination at that time. But to watch you child cry out, to writhe around in her bed, to look at you with pleading eyes, and to eventually give up – it is absolutely heart wrenching and it should not happen.
So, I was keen to talk to Dr.Mack about what he would suggest. Tylenol and Advil combined sometimes worked for Kate. Other times we needed to move to morphine (which made me nervous) which worked well. Interestingly Dr.Mack suggested that morphine did not work well for migraine variant syndrome – which he felt was the underlying cause of Kate’s cyclical vomiting. He suggested instead a Tylenol suppository (if Kate was vomiting) combined with anti-nauseants such as Phernegen. He was also a strong advocate of IV hydration at the onset of symptoms. To this day IV hydration is the first and most important part of Kate’s protocol when she has an episode.
Dr. Mack advocated again to re-try amytryptiline with Kate. He said that in 90% of cases of cyclical vomiting syndrome it works. He suggested we needed to try this drug longer (we had tried it before) and at a higher dose (which we would have to build up to). He counselled me to do further reading at the American Council on Headache Education.
I then asked the question that burns in my brain (do you know what is wrong with my daughter). If this wasn’t mitochondrial disease, what would it be?
Dr. Mack replied that the top 10 choices for Kate was that this was some form of mitochondrial disease – perhaps a phenotype of one of the known mito diseases – but that we may never have a confirmed diagnosis. He called Kate’s mito disease a ‘working diagnosis’.
(A “phenotype” is basically like saying it waddles, quacks, looks like, has webbed feet, a bill, feathers etc. etc. like a Duck..but we can’t confirm it is a duck).
Dr.Mack also broached the topic of the “mito cocktail” a very popular cocktail of supplements that supposedly helped to manage and/or alleviate the symptoms of mitochondrial disease. There had been much debate among Kate’s doctors about starting the cocktail and about its effectiveness. We had been counselled so far to not go ahead with it as there was still too much uncertainty about Kate’s disease and the benefits, but also the problems of starting on the mito cocktail. Further, the research and science was very limited with much of the evidence being anecdotal. Still, her was a Mayo clinic neurologist advocating that we may want to try it with Kate. It was certainly a conversation I would try to have with Kate’s CHEO doctors again.
Dr. Mack reviewed a few other questions we had such as:
– What about Kate’s chronic constipation?
A non issue for Dr. Mack and certainly not the cause of her episodes, though constipation would become worse with dehydration.
– Were vaccinations safe:
For the most part yes. But part of the pertussis vaccinations is typically withheld in mito-kids.
This was our last visit with Dr.Mack and at the end of it he handed his business card asking us to stay in touch and to feel free to follow-up with him if we had any further questions. Though to this day I haven’t been back in touch with Dr.Mack, I have a strong respect for him and think of him as part of Kate’s broader medical team.
Dr.Rodriguez – Hematology
We had met with Dr.Rodriguez at the beginning of our visit to Mayo, but as she did not have all the lab specimens and information about Kate, we had rescheduled our visit for later in the week.
Dr. Rodriguez reviewed with us what we already knew about Kate’s red blood cells (RBCs). She was producing them, but they were small (microcytic), pale (not red, but a pale pink), and misshapen. This would impact Kate’s ability to utilize/metabolize iron properly (i.e. she has iron, she just can’t use it). This is why a ‘sideroblast’ or ring of iron forms.
Dr.Rodriguez felt that there was really no intervention they could do other than watch and monitor. Kate’s Hbg did not drop below the low 70s and would rebound to the low 90s – neither level required transfusion (120 would be normal). She felt Kate’s sideroblastic anemia was a ‘anemia of chronic disease’. She felt that if Kate’s episodes became less and less, her Hbg may normalize. She described this a function of Kate’s bone marrow, which is an organ of the body and mirrors how the body is feeling. Kate’s RBC could not normalize because of her illness.
Dr.Rodriguez did not have a suggestion of an underlying illness for Kate.
We now know that it is a key feature/condition of Kate’s rare form of mitochondrial disease.
And that concluded our visit to Mayo. Seven days of intense medical discussions about my daughter. Hoping for answers.
What I did come away with was a renewed confidence that our children’s hospital had been doing an excellent job for Kate – from a diagnostic point of view. Their suspicions of mitochondrial disease were confirmed and they were on the right path with testing.
What we did not come away with were clear answers or a new direction. And in the end, perhaps the visit was not necessary, but it give me the confidence that we were starting to exhaust all channels in hoping for a diagnosis for Kate. The visit to Mayo may not have been a ‘success’ when it came to answers, but in the bigger picture it was a necessary step.