Kate’s Story – Waiting on Tests (and scheduling more)

January 2009

On January 5th, 2009 we met with Kate’s metabolic doctor (Dr.C) to discuss test results that had been orderd during Kate’s November 2008 hospitalization.  In the world of genetics and metabolics, test results are a) not easily obtained, and b) they take FOREVER to come back. Patience is a virtue they say – and you have to be a very patient parent when you have a child who is undergoing genetic testing. Of the tests that were back hearing was not one of them. We were not overly concerned about this, or highly anticipating the results as only 50% of genetic hearingloss have been mapped to this point.  For now, we were just learning about our little girl’s new pink hearing aids and how to fit them in her ears and keep them there without her pulling them out constantly. We were motivated to do the best we could to help her gain language and learn to communicate.  Hearing loss and the finding out if it was genetic in nature was not our priority.

Making Peace with Kate’s Hearing Loss

There was no hope of retrieving Kate’s hearing – what was lost was gone and without a major medical breakthrough, such as growing those little tiny hair cells in her cochlea, her hearing was not coming back. Brian and I would often joke – and sometimes still do – that Kate’s hearing loss was the least of our concerns when it came to Kate. We had so many medical concerns to address, a ton of information and terminology to process and understand, and were at home with a chronically unwell child.  It might be shocking to some parents who are reading this that we were not grieving her hearing loss. Just today at CHEO I met a mom with a little one who had just been implanted at the age of 5. I could feel the sadness radiating from this mom, the fear, the worry – and the hope.  I knew she wanted to talk and I was very gentle in what I said to her. I hope I was reassuring.

How could hearing loss not be devastating?  To lose something so precious. To never ‘hear’.

Don’t get me wrong – we were upset and sad about the news of Kate’s deafness.  At that time we didn’t know anything about being deaf, Deaf culture, sign language, or auditory verbal therapy. We felt very isolated and lost. The community for non-verbal children who were deaf was shrinking every day as the world of cochlear implants was opening up so many options to the deaf world.  We were learning how to read audiograms and how to work with Kate in the sound booth for testing. We had begun weekly auditory verbal therapy appointments at CHEO and were slowly entering the world of working with a hard of hearing child. The Infant Hearing Program in Ottawa had been in touch with us to facilitate support and help us get started on better understanding hearing loss and helping Kate to gain language through additional verbal therapy and sign language. They also provided us with a teacher of the deaf and hard of hearing to work with us as a family in our home.  We also heard about an organization called VOICE that supports families and children with hearing loss, by providing peer support and advocacy in the community.  And I had started attending a specialized infant playgroup at Canadian Mothercraft that was specifically for children who had special needs and were clients of the Ottawa Children’s Treatment Centre (OCTC).

 

We had move beyond devastated into motivated.  We both knew there was nowhere to go but forward and we felt so strongly about helping Kate, we didn’t really take the time to grieve and be sad.

 

Back to metabolics and test results…

One of the test results that had come back was the microarray testing. It was normal. What had also been done at the same time as this testing was testing for the infant thalassemia gene. This also came back as normal. There was still a lot of investigation and confusion into the bloodwork that was being analyzed at McMaster University Health Sciences Centre. There was a rarity and oddity to Kate’s bloodwork, and the research team there still had not determined what was causing her malformed red blood cells and microcytic anemia. Thalassemia was still highly suspected, as was Persistent Elevated Fetal Hemaglobin Disorder, and further tests to examine the alpha and beta markers for thalassemia were requested. A few days later these test results came back as negative.

Amino organic acid disorder was also ruled out based on bloodwork done in late December, but Kate still had a highly elevated metabolite in her blood called alanine. Alanine had shown up as elevated on previous bloodwork tests, and this elevation persisted for couple of years. The problem with this test result is that it really only information and not indicative of anything specific.

Finally we came to our discussion with Dr.C about next steps. Because test results to date had given us no answers, the consideration of a muscle biopsy was back in play. We were told that a muscle biopsy would be 95% definitive in identifying mitochondrial disease. At that time, Dr.C gave a 5-10% chance that Kate had some form of mitochondrial disease. Of course we were very focussed on a diagnosis for Kate and we were firm in our position that she should have a muscle biopsy as soon as possible. I felt very strongly that this was really important to do for Kate and I had no reservations.

As we began to discuss the details of the muscle biopsy, we were also strategizing what other tests or procedures might be needed at the same time. I was very conscious of putting Kate under full sedation and I wanted to be careful about how many times we did this. I put on my coordination hat and started to ask ‘what else’ and ‘who else’ should be involved during this procedure. It had become clear to me that the specialists were all incredible in their own areas of investigation, but when it came to the big picture for Kate and keeping everyone moving in the same direction and on the same page, I was slowly and surely (and unknowingly) entering my new role as medical coordinator.

It was decided that Kate would also have a lumbar puncture while under sedation to test the lactate levels in the cerebrospinal fluid (CF).There was also the possibility that hematology would want to perform a bone marrow biopsy on Kate to get a better picture of the condition that might be affecting her ability to produce red blood cells. Finally, Kate was scheduled to undergo a urodynamic study to test the effectiveness of her bladder and to try and determine if her spinal syrinx might be causing neurological problems. Further investigation into the requirements of this test revealed that it could not be done under a general anesthetic as the bladder may not react as it would if Kate were awake. That nasty test, with catheters in her urethra, and introducing fluid to her bladder to test how much it could hold before it ‘let go’, would have to be done while she was awake.

Dr.C was also very clear that Kate should be taken to the emergency department when/if she had another episode so that critical bloodwork and further tests could be done when she was unwell.

Despite not being hospitalized at the time, we were now visting CHEO more than once a week.

 

Julie

 

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