Mayo Clinic Visit – Part 3

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).

 

Could it be this duck?

Could it be this duck?

Or is it this duck?

Or is it this 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.

 

Julie

 

 

 

Kate’s Story – Mother’s Day

May 7th, 2009 Kate is discharged from CHEO after an acute episode of Cyclical Vomiting Plus Syndrome. Kate was still not well, but she was stable and had been slowly recovering, though there seemed to be no reason to keep her hospitalized Brian and I both wondered if someone should follow her closely post-discharge. If so, when should she been seen and by whom?

May, 9th

Kate has still not recovered fully since her hospitalization. Kate began vomiting that morning and was lethargic and irritable. We weren’t sure of how to handle the situation. Kate had been discharged from hospital – and we assumed this meant she was recovering and did not need to be there. At the time we weren’t really considering a ‘relapse’ as this had never happened before with Kate. Typically her episodes had a recovery period (which was slow), and the next episode would be 6-8 weeks later.

As Kate was now being followed by palliative care, and they were facilitating her care within CHEO in the absence of any case coordination, we called the palliative care doctor on call. Dr.V. thought we should come to Rogers House for observation and have bloodwork done to ensure Kate was still stable and did not require hospitalization. Kate was placed on morphine to ease her discomfort, and I sat with her in the reception area of the House while we were ‘admitted’ to a room.

Rogers House is an amazing facility. It is supported by the Ottawa Senators Foundation and bears the namesake of a former Sens assistant coach Roger Neilson. It boasts 24 hour nursing care, ‘homey’ rooms for the patients, a playroom, kitchen – where meals are prepared for patients and families, sensory rooms, and a small garden area. It was decided that we should stay as a family in one of the suites, so that we could all be together while Kate recovered. To this day Jack still talks about Rogers House and the awesome bed he got to sleep in (a hospital bed with lots of bells and whistles). It was Mother’s Day weekend 2009.

Dr.S, Kate’s palliative care doctor came to see us the next morning and we had a discussion about Kate’s status and why she seemed to not be recovering. We talked about her ‘irritability’, and what I, as her mom, considered to be more than discomfort.  I was sure Kate was in pain, and I was determined to make the team understand that Kate needed help and more intervention beyond Tylenol which was what was being used to keep her comfortable.

Pain management and identification in young children was not a well-known phenomenon at the time and we have since learned a great deal about identifying pain in Kate. Young children cry, and in my opinion, their pain symptoms tend not to be acted upon in the same way as it might be for an adult by doctors. I can recall one night, after Dr.S came on as our pain management and palliative care doctor,  that Kate was in significant pain. I told the nurse she needed morphine, which was the drug we were using at the time to help alleviate Kate’s pain. You must remember that every time we arrived at the emergency department and were admitted to CHEO, we saw a new team of doctors and nurses who did not know Kate, and without a diagnosis it took time to bring them up to speed on what was going on with them. On this particular night, we had to convince the nurse to get the resident, the resident came 30 minutes later and also wanted to ‘discuss’ pain management. In the end Kate was prescribed morphine, but I was incredulous at the time it took and the discussions required. An adult in that state of pain would never have waited long for relief.

At one point we were given a visual pain chart to help us describe Kate’s pain, and we have used this often in her care and episode management. At one time in held a prominent place in her medical binder on the inside cover for easy referral.

A visual pain guide for young children and children who are non-verbal.

Kate is a non-verbal child and still cannot express herself, other than to cry, when her body hurts. We are working with her to help her learn to tell us where she hurts, and we are starting to use this pain guide to hopefully help her guide us on how bad her discomfort or pain is by pointing to the appropriate picture. It may sound terrible, but I take her frequent falls and bumps to the head as opportunities to talk about ‘owies’ and point to where it hurts. Kate is starting to model this back to me, and I feel a sense of hope that someday she’ll be able to tell us more about how her body feels.

We stayed at Rogers House for 3 nights as a family. The staff were very supportive and very capable of helping us by providing respite for Kate. However, it was very hard for me to let others care for Kate and console her when she was unwell. As her mom, I felt so strongly the need to be the one to comfort her. She was sick and needed her mom and I couldn’t let others take on that role. I don’t think it was any misplaced sense of responsibility, but it clarified for me that we might do better at home as a family in our own environment. It also made clear that I was not yet ready for respite care for Kate when she was unwell. It would be a long time before I could leave her when she was sick and still it is only for brief breaks.

May 12, 2009

Kate continued to be irritable, lethargic, and wasn’t back to being able to crawl, or scoot along the floor (her version of crawling). She vomited intermittently and had now been unwell without full recovery since March.  She continued to have difficulty sleeping at night, crying and moaning often. We did the best we could to comfort her, but as parents we felt so helpless. We met with Dr.S Kate’s consultant pediatrician to impress upon him again that Kate needed a better plan for her care and we was beyond waiting for differential diagnosis and investigation. We needed to expedite the referrals for a second opinion that had been discussed at the case conference. We also began to look into nighttime nursing care as the toll of endless nights awake and rocking Kate were taking their toll on Brian and I. We were physically and emotionally exhausted and there was no end in sight. Nursing care was difficult to access for a young child and there was much paperwork to be completed and agencies to contact, combined with my emotions around respite, in the end it did not come together for us and it remained to us to get Kate through the days and nights.

I felt charged to do something for Kate. I called her lead specialists at CHEO to let them know about the episode relapse so close to her hospital discharge. I called the specialists Kate had been referred to at Sick Kids and ensured their administrative staff were watching for the referral documents, facilitated incomplete documents, and ready to give us an appointment date as soon as possible. Dr.S and I worked on identifying another medical facility that might have expertise on rare and undiagnosed disease where Kate might also be assessed.  We began to collaborate on drafting letters to these facilities about Kate in an effort to enlist their assistance.  I also called CHEO Health Records and asked about having a copy of Kate’s complete medical file. I was advised Kate had a very large file and it might be best if I could be more specific about what I needed.  Several days later, with Kate still unwell and in my arms, I sat down in a small room and flagged the pages of her medical chart that I wanted copies of.

We were pulling together a determined plan to find someone who could help us find a diagnosis for Kate. I was convinced this was the only way to help her. If we knew what was wrong we could keep her safe.

Julie