Mayo Clinic – Pediatric Centre – Rochester, Minnesota USA

The entrance to the Gonda buillding. Mayo Clinic, Rochester Minnesota

The entrance to the Gonda buillding. Mayo Clinic, Rochester Minnesota

On our way

On our way

 

Fall 2009

Prepping to take Kate to the world-renowned Mayo Clinic was a detailed and time-consuming process. We had little to no medical coordination at CHEO, and though our pediatric consultant Dr.S was wonderful, he could not access Kate’s medical records at CHEO, nor did he have the time to review all the material and determine what should be sent in advance or compiled in a medical binder to take with us. He sat down with me in early August and we reviewed all the information that should be sent to Mayo Clinic in advance of our visit.

  • Medical History
  • Metabolics and genetics history, testing, results
  • Gastroenterology, including feeding studies and GERD studies
  • Neurology
  • Hematology
  • Audiology and ENT
  • Recent bloodwork
  • MRI results
  • CT results
  • Ultrasounds, and urodynamic studies
  • Bone marrow biopsy results
  • Muscle biopsy results
  • Previous and current medications
  • Syndromes, diseases, and genetic conditions already tested for

It was a long list and clearly portrays a medically complicated little girl. Now it was up to me to compile all of this information in a coherent and organized way to send to the Mayo Clinic. I started with visiting medical records and making photocopies of relevant material from Kate’s medical record. Over the previous 18 months I had gained a good appreciation of what notes were relevant (to other medical professionals) and which were not – so I started in this fashion and tagged anything I felt I might need from her (then) 6 volume chart. I was pleased that the manager of medical records was supportive and understanding. She did all the photocopying for me. Then I was off to visit diagnostic imaging to access and get a copy of all Kate’s tests. That took a bit longer and required a requisition from a physician (which I had from Dr.S). I was finally handed a CD that contained all of Kate’s diagnostic workup since she had started to ‘get sick’. All other results were in Kate’s medical record, so I was now ready to pull together her binder of information.

While Kate’s Mayo Clinic binder was being organized, I had begun coordinating with OHIP, our provincial health insurance plan here in Ontario, to determine how Kate’s visit would be covered financially. We knew this could be a very expensive visit to an American hospital and wanted to be clear as to how to manage the visit and any tests/procedures/diagnostic work up that were requested while we were there. Once they had deemed Kate’s visit to Mayo would be fully covered, OHIP put us in touch with a 3rd party health care coordinator for Canadian patients abroad. The role of this coordinator was to vet any and all tests requested while were there. We weren’t supposed to do anything before consulting them first as a simple blood test could run into thousands of dollars. The importance of their role was very clear to us as on our first day at the Mayo Clinic, we were sent to the finance department before we even registered as patients and my Visa was put on file on an “as needed” basis. (Scary).

The next important part of planning the trip was support for our family. I would need a back up while in Minnesota. There was no way I was going to be able to manage Kate (then 2), provide complex and complicated medical history, listen to the experts I was meeting with, and take notes during my meetings. Thankfully my mom offered to come with Kate and I. As a former nurse, she has a keen ear for what is important to record during these meetings, and I valued having another person with me – especially my mom. We were also offered some financial support for the trip – which was very welcome. We didn’t know what we were getting into and were thankful for the offer to assist with the accommodations. As for my 5-year-old son, he’d be home with Dad and his much adored (and adoring) grandfather. I took the time to write him a series of short letters – one to open for each day I was away. I was tough to be gone from him and the comforts of home.

We were ready to go – and it seemed Mayo was ready for us. We received letters in the mail detailing the ‘itinerary’ of our visit which would be about 7 days. We were to meet with several specialists, but oddly metabolics/genetics was not on the list – and ENT was. This omission gave me pause, but then I thought this area was likely covered as part of our initial meeting because of its vital importance to Kate’s case, and I did not inquire further.  Kate’s physicians and covering letters were all very clear that she had a suspected metabolic condition so of course metabolics was going to be at the center of the consultation (?)  As for ENT, there was no question about Kate’s hearing loss and I was unsure as to what more they would have to offer us, but we did not inquire and kept them on the list of specialists to see.

On Monday, October 19th we flew to Rochester Minnesota and settled in to our hotel apartment. Groceries were the first course of action as Kate was a very fussy eater and still had difficulty with many foods. Finding what she could eat could be a challenge. At that time she was huge on a pasta called gnocchi. It was pretty much all she ate. I prayed we could find that in Rochester (and we did). Gnocchi in hand (seriously, it was a BIG deal), we were ready for our week.

Tuesday, October 20th we entered the Mayo Clinic for the first time. Wow. Glass and architecture, beautiful artwork, large comfortable sitting areas, cafes and restaurants, shops, and a baby grand piano in the atrium where invited pianists came to play for the patients. It was impressive. It made me feel like this was ‘the place’, somewhere as beautiful and impressive as this must have the answers we were looking for. Thoughts ran through my mind…”we are so lucky to be here”, “the doctors must the best here”, “we should have come sooner”.

The beautiful main building at the Mayo Clinic

The beautiful main building at the Mayo Clinic

Landow Mayo

We made our way to the general pediatric area and met with Dr.Lloyd, the medical coordinator for Kate’s visit. Dr.Lloyd’s role was to be the ‘quarterback’ for all the specialists Kate would see at the Mayo Clinic. Kate’s vitals were taken and we sat for a full hour discussing in great detail her medical history. Repeating Kate’s medical history for more than the hundredth time was exhausting, but it was early in our week and I knew it would set the tone for the rest of the visit, so I was careful to tell the entire story to date. Not surprisingly, Dr.Lloyd was concerned about the omission of metabolics from the list of specialists and had them added as a consult. This was a concern for me and my instincts kicked in with a bad feeling at this oversight which I had suspected but then dismissed.

How would this visit go? Would the impressive Mayo Clinic really be able to help us if they had missed something this obvious?

Dr. Lloyd then proceeded to prepare us for the week to come and the discussions we would have. It was her opinion that we had excellent care and a great work up done in Canada. She wanted us to be realistic in our expectations about what the Mayo Clinic could offer as more insight into Kate. This was the second bad feeling I had in a matter of one initial visit – it sounded like they had already determined there might not be more they could offer us.

We left with an itinerary for the next few days, and feeling cautiously hopeful for new insight into Kate.

 

Julie

 

Kate’s Story – Fall 2009

So I am getting back to recounting Kate’s story to date. Here is the last post written a few months ago if you want to catch up on where I had left off.

September 2009

Kate was admitted to hospital over the Labour Day weekend for severe dehydration due to cyclical vomiting and metabolic instability. She had started another episode as she typically has…fussy and irritable, refusing to eat or drink for a couple of days. Sleepless and crying constantly at night. Within a couple of days she started vomiting and we knew that we needed to take her to the hospital.

The emergency department was getting more efficient at triaging Kate and understanding that she had to be seen quickly, but also that she was very unpredictable and her status could change very quickly. After the large medical team meeting about Kate in the late spring of 2009 – following her PICU admission – her neurologist had written a letter giving some instruction as to how Kate should be managed when she presented at the emergency department based on previous experience. We had asked all the doctors in the room to compose such a letter. None offered as they all felt they could not accurately describe the entire medical complexity of Kate (ah coordination of care). Dr.D finally agreed after we tearfully explained the frustration of trying to get through the emergency department experience with Kate. The letter helped significantly with mobilizing the ER doctors and limited the ‘starting from scratch’ frustration that we were face with each time we walked through the emergency room doors.

The ER attending also paged Dr.C from metabolics who was keen to stay on top of Kate’s metabolic profile when she was acute with one of her episodes. One particular investigation was into porphobilinogen which would indicate the possibility of acute intermittent porphyria (which was a suspected condition). The test was negative, but would have to be repeated again during the next episode (porphyria has since been ruled out).

Kate’s admission was short in duration, and I would venture to say this episode was severe but seemed to resolve well and within a short time. Palliative care offered for Kate to transition to Rogers House for respite before she went home, but we just wanted to take her home.

As I think back to those days…to the first 3 years of Kate’s life…I can’t honestly understand how we did it. Our days were spent often with an unwell, lethargic and irritable toddler. She wanted to be rocked or held constantly, and for some reason her preferred position was on my right shoulder while standing. If I sat to rock her she would fuss and whine as if she was uncomfortable, so I spent hour after hour rocking her in my arms while standing. When she finally fell asleep I would sit in a chair and rock some more.

For the first three years of Kate’s life she did not sleep more than 2-3 hours at a time. She would wake and cry and fuss. She would sometimes settled after 20-30 minutes, or she would continue to fuss and whine. I would get up with her most of the time as Brian was working the next day, but I have to admit there were nights where I pretended not to hear her, and knowing he would get up (he couldn’t let her cry). We were exhausted beyond imagining. What most parents went through for the first few months with a newborn or infant, we were going through for years. And somehow we plowed through – because we had no choice. I can remember the night before Kate went to the intensive care unit for severe dehydration. I listened to her cry all night too exhausted to get up one more time. I listened to her dry heave and cry, too exhausted to know what to do or to think clearly. Man those were dark days.

The cycle of episodes were long. There was the decline – usually 3-5 days, the inevitable hospitalization of 3-7 days, and then home for 2+ weeks of recovering. During this time Kate was very high needs, not eating or drinking, lethargic, irritable, constantly crying. There was no break – for her or for us, and I was absolutely concerned about her quality of life and her future. We had to do something.

Slowly we were introduced to social work at CHEO and there was some hope that we might get some form of financial support or relief since I was now beyond my maternity leave and we were down to one income. Government applications for assistance were daunting and detailed and I did not have the stamina to sit down and work on them alone. Family support was non-existent other than when my mom would fly up when we were in crisis – but ongoing support and short periods of respite did not exist for us.  We knew we needed help and we were scared at the fact that there was really nothing for us or Kate. I started to wonder how long we would both last at this pace and intensity.

After Kate’s Labour Day admission, we were sent yet again to meet with a dietician about Kate’s GI issues. Reflux (GERD) was still an issue for Kate and constipation was a chronic problem that sounds less than serious, but can cause a lot of problems for a young child. There was also concern about Kate’s size and weight – she was off the charts small and she had lost weight instead of gained it in recent months. We were managing the constipation with medication, but it was not doing a great job. We were also looking at supplementation for her diet – but when a toddler doesn’t want to eat, it really doesn’t matter what you try to introduce to them. In fact new food/supplements when a child is ‘off’ their diet or eating habits are not very well received. The dietician also asked us to restart a detailed food journal for Kate. We added this to our ‘to do’ list.

Conversations started happening about testing Kate for Crohn’s disease, Celiac and/or Colitis (all of which have since been negative) and as we prepared to go to the Mayo Clinic in October, we added GI (gastroentorology) to the list of specialists to consult with. Our concern was that we were stuck on symptom management or reacting to each crisis and not addressing the cause.  Our neurologist and GI doctor had wanted to start Kate on a new medication called Flunarizine, another neurological blocker aimed at abating her episodes. We were skeptical, but in asking for help it is hard to say no when a medication is recommended. GI was also wanting to restart Prevacid for GERD – though we had found no difference with her off of the medication.  You ask for help, you have to take it when it is offered…no? GI was also interested in doing an upper GI endoscopy on Kate and taking biopsies. The goal was to assess the reflux , look for inflammation, ulcers, gastritis, esophagitis and eosinophilic, and examine Kate structurally. We were unsure about this invasive test that required yet another anesthetic, and were beginning to express concern about the direction GI was taking with Kate. Our parent intuition was beginning to give us a sense that this was much more than GERD (reflux) and that something else was complicating it.

We were anxious for more. We wanted answers or a new direction for Kate’s care. We started preparing for our visit to the Mayo Clinic.

 

Julie

 

 

The Meat in the Medical Sandwich

This has been a long fall, full of medical drama and discussions. Kate is not an easy child to care for medically as she is very unpredictable and living with a disease that only 3 other (surviving) people in the world are known to have. Keeping her safe and well is a complicated task and involves a long list of doctors.

I am sure over the past several years that I have met hundreds of doctors either directly or indirectly involved in Kate’s care. Hundreds, and the number is no exaggeration. It really is mind-boggling. The one constant among all those doctors is Kate – and me. We are the ‘meat’ in the medical sandwich. She is the focus and I am the coordinator, constantly shuttling between doctors and specialists to engage them, ensure they are sharing information and are up to date/informed about Kate’s ever evolving situation, and managing Kate’s care with each and every one of them as individuals.  Despite the wonderful coordination of complex care program we are involved in – and the significant assistance in this type of coordination they bring to Kate’s case, I’ve come to realize this role will never really end for me.

Kate’s primary team has come to know me well as the mom of their patient, but also as a person. They know I am easy to get along with, they know I understand a fairly high level of medical jargon and dialogue, they know that I am very keen to be told any and all information – no matter how preliminary. They know that I like clear and open communication. I appreciate that they respect me as part of Kate’s health care team, and that they understand I wouldn’t have it any other way.

Sometimes this feeling of ‘teamwork’ and being ‘fully informed’ goes a little off track, and it is typically when a new doctor has been thrown into the mix. Usually this happens at the ED when we invariably meet a new team of doctors caring for Kate during an acute episode. It is a short-term lack of communication where I may not be kept fully informed of test results or care options. Usually it is the really big drag of having to recount – again – her history, which is a long and complicated story that the rest of her team knows so well.  Sometimes specialists are not paged who should be because I assume the doctors are communicating as I have become accustomed to, forgetting that these doctors don’t know Kate as intimately as the regular members of her team do and might not think about who needs to be paged (and when) and wouldn’t consider asking ‘the mom’ who should be called in to consult. These times can be frustrating as a parent – as a parent of a medically fragile and medically complex child. They eat away at energy and lead to feelings of anxiety and worry that are unnecessary if only the information were shared or the mom ‘consulted’.

This feeling is made worse when you leave the comfort zone of your familiar hospital surroundings to consult with specialists at another medical facility. With Kate, we have been to Sick Kids several times to meet various specialists, McMaster Health Sciences Centre, The Mayo Clinic, and have tele-consulted with the National Institute of Health in the US. Each time meeting new doctors (and their fellows and residents), telling Kate’s story and tying together all the pieces to try to give a clear and accurate picture of her history and all the medical specialists involved. Recently we’ve returned from another such meeting with yet another new team of specialists. We have learned a lot from previous meetings and we are well versed in doing our homework in advance. There is now careful preparation of documents and information by her medical team preceding our visit, and typically much planning and discussion that goes on with our ‘home team’ before we visit anywhere. We feel well prepared about the focus and intent of the meeting before we arrive. The difficult part for us is when we are not on our ‘home turf’ and meeting with doctors and specialists who again – don’t really know us. Conversations tend to be vaguer, points of view may (typically) conflict with the existing one, details are glossed over as they focus on ‘what the parents need to know’.

As I write this I recognize there are many variables at play here: (1) we are there for a consultation in an area that is not otherwise covered by our home team, or where a second opinion is required – so the information will be new and different (2) second opinions are going to differ in point of view and conflict with existing thinking/approaches.  What I find frustrating is that the different points of view can be because they don’t have the same history with Kate and they haven’t had a lot of internal discussions about her. They haven’t seen her episodes, they haven’t seen her crisis, they haven’t seen acute life threatening events. They also don’t mine from us the detailed and historical information we have – but focus on their script for taking history. Their answers to our questions are vague and require much more introspection and analysis than they are willing to give in a first meeting. And I get that is appropriate, you aren’t going to talk in detail until you have really thought it through from your own medical perspective. But what it does for parents is put us in the meat of the medical sandwich. While all others meet and discuss and analyse tests and discuss again on the periphery – we wait on the inside (supposedly patiently). There is no where for us to go, there are no more questions we can ask, there is no further connection to be made but to wait. I find that wait interminable, and so I do ask questions, email and make phone calls. I follow-up and I push and I start to get to know these new specialists and let them get to know me. Trust develops as does respect, and soon we are in a state of much more open communication. It takes time to get there though – and that is exhausting and daunting, especially when you are starting it with yet another doctor. And this is how I am feeling today having just returned from our most recent trip.

Julie

CHEO Board of Trustees

A few weeks ago I was asked to prepare a presentation for the Board of Trustees for the Children’s Hospital of Eastern Ontario. I was honoured to present this following speech this evening at their annual retreat:

 

Hello, and thank you for inviting me to come and speak with you today. My name is Julie Drury and my 5 year old daughter Kate has been a patient at CHEO since she was 9 months old.  I feel honoured to share my daughter Kate’s story and our family’s journey with CHEO with you today, and it is a true testament to CHEO’s commitment to patient and family centred care that you have invited three parents here today to speak to you.

What I want to share with you today is how CHEO’s forward thinking and expertise in pediatric care have had such a positive impact for our family.  And by telling a small part of our story, I hope to inspire you to continue on this path.

My 5 year old daughter Kate is a medically fragile child who suffers from an extremely rare disease that has caused multiple medical conditions. Among her conditions, Kate is profoundly deaf, suffers from a blood disorder, has an immune deficiency, has gastrointestinal, kidney and liver complications, and suffers from episodes of acute illness that frequently require visits to the emergency department and many hospital admissions. In the past 3 months alone, Kate has been hospitalized 3 times. She sees more than 12 different specialists at CHEO, she has 7 different therapists at CHEO and in the community.

You can probably glean from this description that managing Kate’s health – keeping her safe, keeping her health stable and trying to ensure she has the best quality of life she can, is almost a full time job. For the first 2 and ½ years of her life we visited the ER countless time, Kate was admitted several times for acute episodes of illness and she had no diagnosis until she was 4. Every time we came to CHEO we would meet new doctors – residents, attending, nurses in the ER. We would tell Kate’s story as best we could. We’d describe her symptoms and her history as best we could. We were often admitted, and would need to repeat this story again to the staff on the in-patient units. Tests and invasive procedures were done repeatedly as there was no concise history and no treatment protocol for her condition. Many times we were put in the position of being asked how Kate had been treated before and how her pain was managed. We felt like we were her medical coordinators, medical advocates and were relied upon to help summarize her very complex condition.  When she was not in hospital, we found ourselves as the go-betweens  among her specialists, trying to coordinate medical tests and procedures, and asking for case meetings so that we could at least have all the specialists in the room to discuss Kate’s condition.

We were exhausted, scared, frustrated and we did not feel safe at CHEO. Kate suffered 2 acute life threatening events here. Both of which may have been averted with proper oversight if her care had been better coordinated and her complex medical needs better had been better understood and supported.  However at that time, CHEO had no mechanism to provide the support and care that Kate needed. At one point we had been advised to consider a move to Toronto where Sick Kids had a program that could better support a medically complex child such as Kate.

What I know now is that our situation is not unique. So many families have struggled like ours has. Children like Kate are living longer as a result of the incredible gains in medical knowledge and technology. Medically fragile, medically complex, technology dependant kids have become a significant population. There are at least a couple of hundred Ottawa and the surrounding area that CHEO serves.

In 2010 CHEO introduced a pilot program to support medically fragile and medically complex children and youth to better coordinate and support their care within CHEO and in transition to community support. It is an incredible program, staffed by a dedicated doctor and a nurse care coordinator. For our family, it has changed our life. Kate was the first child admitted to the program and has been with it for 2.5 years now. Kate’s specialists rely on the program to coordinate, share and stay informed about her condition. Her tests and procedures are coordinated and now less invasive for her. Her episodes are better managed as we now have a coordinated plan for treating Kate, allowing her to be more efficiently care for in the ER and when she is admitted to hospital. In the last 2 years she has spent less time at CHEO and there has been less stress on our family. She is safer at CHEO, and her quality of life in the last 2 years has been better.

The Coordination of Complex Care Program is a CHEO win. And more importantly it shows how CHEO  can be forward thinking and responsive to the changing needs of CHEO’s most vulnerable patients.

Last November we celebrated an incredible milestone with Kate’s team here at CHEO. Kate’s disease was diagnosed. Her medically complex conditions were always highly suspected to have an underlying unifying diagnosis. She had has been to Sick Kids for second opinions, the Mayo Clinic, and was admitted to the Rare and Undiagnosed Disease Program of the National Institute of Health last year. There have been more than 20 different diseases considered in Kate’s case. I think what is truly remarkable is that it was Dr.Pranesh Chakraborty of the CHEO Metabolics and Genetics Department – who collaborated with researchers from around the world to identify a new and rare form of a recessive genetic mitochondrial disease. Kate was the first known case of this newly identified disease. Researchers here at CHEO made the discovery.

Kate’s disease does not yet have a name, and the first journal article with several of the authors from CHEO will be published shortly. Since the disease discovery and in collaboration with colleagues around the world, there are now 10 known cases over the last 20 years. Four of those children are alive today.

Our diagnostic odyssey now over, we are focussed on working with Kate’s doctors here at CHEO to find a treatment and maybe a cure for her disease. There is already a little petri dish of yeast with the genetic defect being grown at the Research Institute to try and better understand this disease.

Being so rare is daunting. We are the first, and sometimes being first is not a good place to be. But being among the first blazes the trail for others, it leads to new discovery, new ways of thinking about things, new ways of helping patients and families.

And while we wait and hope. We know that Kate has a strong and dedicated medical team behind her. We feel safer, and we know that CHEO has the vision and the forward thinking to help children like Kate and families like ours. We know that CHEO also strives to be first and to blaze a trail.

Thank you.

Kate’s Story

One of my favorite pictures of Brian and Kate. Not yet walking, very tiny – and dancing with her dad.

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.

June 2009

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.

July 2009

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.

August 2009

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.

Julie