January and February 2009 were very busy months with Kate. I continued to take Kate to her regular occupational therapy and physiotherapy sessions, and we had also begun auditory verbal therapy as we began to use her little pink hearing aids to accommodate her hearing loss and her delays in speech development. We had also come through a significant amount of tests including bloodwork, feeding studies and upper GI exams – and were awaiting results. Feeding continued to be a major issue for Kate. She had great difficulty chewing food and swallowing, and we had been working with an occupational therapist who specialized in feeding issues since Kate was 10 months old. We had not made a huge amount of progress and Kate was very small, chronically constipated and suffering from a reflux condition called GERD for which she was being medicated.
The ‘feeding occupational therapist’ had been slowly introducing water and homo milk to Kate’s diet. Water was going well, milk – not so much. We had come to rely on infant formula when Kate was not breastfeeding and that stayed the norm until Kate was just shy of 5 (yes, just recently). Kate was slowly progressing from infant foods into very overcooked vegetables. Texture and chewing seemed to be issues, so veggies my grandmother would have liked were Kate’s preference. We were also encouraged to give Kate lots of opportunity to touch and play with her food, and to take our time feeding her. I laugh a little now as I look back at my notes, feeding journals, graphs and charts about intake. We were ‘second time’ parents and none of this was new or unique information to us, yet it was made to seem like rocket science. As I look back the common denominator was not what or how we were feeding Kate – it was that Kate simply couldn’t or wouldn’t eat. It was difficult for her and it was uncomfortable, and whether or not that changed was really up to Kate’s body and not OT intervention. (Of course none of us knew that at the time.)
February 3, 2008
We had a consultation with the surgeon who would be performing the muscle biopsy on Kate’s leg. It was a General Surgery consult in Clinic C6 at CHEO. It would be the second time Kate would have an anesthetic. It would be first time she was operated on.
Kate woke feeling unwell that morning. She started vomiting and would not eat or drink. She was lethargic and moaning and clearly uncomfortable. She cried constantly, and especially when she was not held. Kate was having another episode and her surgery date was delayed.
In the meantime, CHEO genetics were still working behind the scenes and collaborating with 3 different medical facilities on Kate’s case. McMaster Health Sciences Centre, The Hospital for Sick Children (Sick Kids) in Toronto, and Texas Baylor University were now involved in various analysis of Kate’s bloodwork.
Sick Kids had completed genetic testing on Kate’s hearing and had concluded that Kate’s hearing was not genetic in nature. (Of course not all genes for genetic hearing loss are yet mapped).
Sick Kids had also come back with a suggested diagnosis of Schwamman Diamond Syndrome based on the symptoms that Kate was presenting with. Sick Kids was seeking parental consent to investigate Kate’s DNA for this disease. The symptoms for Schwamman Diamond Syndrome are: short stature, anemia, pancreatic insufficiency, slow bone growth and fragility.
What was important to us was that something was being investigated and considered. Even when the diagnosis is not one you would ever want for your child, the not knowing seemed to somehow be worse. We hoped that Sick Kids had stumbled upon something, even as we were moving forward to pursue something else entirely.
February 20th, 2008 Kate underwent a ‘procedure surgery’ at CHEO toward an underlying diagnosis for her medical conditions. Dr.B, her surgeon performed a muscle biopsy on her left leg, extracting muscle tissue from her rectus femoris muscle, the largest muscle in the body and one which would be able to regenerate the muscle while still allowing mobility for Kate. The biopsy sample would be used to exam the mitochondrion at the cellular level for mitochondrial disease. That little sample would eventually end up travelling the world, and be seen and examined by renowned medical centres and metabolic specialists – and it would not provide a diagnosis for Kate.
The second procedure Kate underwent was a lumbar puncture to test for lactate in Kate’s cerebral spinal fluid (CSF). In the past, Kate’s bloodwork had shown elevated levels of lactate. The metabolic team wanted to confirm these results and gain further information as blood lactate levels can be variable and affected by many other factors. CSF lactate levels would give the team more information about respiratory chain disorders, infection/inflammation, other metabolic disorders – including possible mitochondrial disease.
Finally, a bone marrow biopsy would be performed on Kate. Her left iliac crest (the top back of her hip bone) would be punctured by a large biopsy needle right to the core of her bone marrow. This test was being done to further examine the nature of Kate’s sideroblastic anemia, which so far no one could figure out the cause and was determined as of ‘unknown origin’. If you read the link on sideroblastic anemia, you will understand it is not a good blood disease to have. Kate’s condition was stable and still is, and I will describe more later in this post.
As with anything Kate related, the procedure surgery didn’t go as smoothly as we had hoped. Paperwork was mixed up and surgery schedules not properly conveyed and as a result there was no hematologist there to perform the bone marrow biopsy. I was with Kate this entire time and insistent they sort it out before I handed her over to be ‘put under’. There was no way we were doing this again with a third anesthetic procedure, and I was waiting for them to have sorted out the situation before they touched Kate. When hematology did send someone down to the surgical suite, I was pretty happy to see Dr.J, the hematologist we had been working with us thus far. She was there to personally perform the procedure. (She was the doctor who was amazed at Kate’s bloodwork during her first admission 4 months earlier). I was finally ready to hand Kate over and was with her as they put the mask on her to help her fall asleep before they took her in for IV anesthetic and the procedures. I knew Kate would be safe, and it was the second time I had done this with her, but those eyes and the pleading look of “don’t leave me mommy” will always stay with me. As a parent all you can do is look calm and reassuring, while your heart breaks and your eyes well up with tears. The amount of trust a child has for their parent can rock your world.
When my little pin cushion woke for anesthetic she was clearly sore and uncomfortable. I was surprised at the size of the incision on her little 16 month old leg, but reminded myself we had done this for something very important.
February 27th, 2008 we met with a new hematologist to discuss Kate’s hematological and bone marrow results. Dr.K had now taken the lead on Kate’s case, and he remains our hematologist to this day.
Dr.K reviewed with us that over the past 6 months Kate’s hemoglobin has been consistent at 80-90 g/L (normal for children would be 115-160 g/L). Dr.K told us that this level of hemoglobin can be tolerated and is adequate for O2 (oxygen) transportation to the cells of the body. In short, Kate’s hemoglobin was quite low, but it was stable and that was good.
Dr.K told us Kate had very small red blood cells, which were abnormally shaped and of abnormal color. Red blood cells should be round, red, and concave at the middle with a fat outer ring. Kate’s were misshapen (oval), very small, pinkish in color, and convex at the middle. Kate’s bone marrow biopsy results showed that she had enough cells to produce hemoglobin, but that ‘sideroblasts’ were also present in her red blood cells, demonstrating that though her body had adequate iron there was an inability to use it to produce hemoglobin. Dr.K told us this points suspiciously toward mitochondrial disease.
What does hemoglobin do?
Hemoglobin in the blood carries oxygen from the lungs to the rest of the body (i.e. the tissues) where it releases the oxygen to burn nutrients to provide energy to power the functions of the body, and collects the resultant carbon dioxide to bring it back to the lungs to be dispensed from the body.
What does iron do?
Iron is essential in producing red blood cells.
Genetic testing at the McMaster Health Sciences laboratory was inconclusive – though they did raise the suspicion of sideroblastic anemia and that in the end this was their diagnosis of Kate’s anemic condition. Interestingly at this time, Dr.K was not convinced and wanted to discuss Kate’s case further with Dr.C (Kate’s metabolic doctor). He felt there were additional genetic tests that should be done now that they had the new information from Kate’s bone marrow biopsy. One area that Dr.K wanted to explore was thiamine (Vitamin B6) deficiency. If thiamine was not being processed properly in Kate’s body it could result in a sideroblastic anemia – and was also significantly linked to hearing loss.
Dr.K also noted the elevated alanine in Kate’s blood (it was at 680 when it should be at 0. Alanine was the elusive clue that to this day still confounds the medical team. (It’s been 5 years and we still don’t know any more about the persistently elevated alanine).
There were obviously still many more questions than answers. Again, there was a mountain of information to absorb and to share with the rest of Kate’s medical team. I continued to play the role of medical coordinator, following up with Kate’s pediatrician and faxing the test results to Dr.S, organizing therapy schedules, contacting the pharmacist about thiamine replacement therapy, and googling new medical terms so that I could keep up with what the doctors were telling me.
I took a look at sideroblastic anemia and got my first glimpse into what Kate’s blood looked like. (Not the prettiest red blood cells.)