I’m going to have to really sit down a couple of evenings this week and write specific posts about the exciting week of milestones this second week of November means to our family.
Kate’s Confirmed Diagnosis
It will be one year ago today that Kate received a confirmed diagnosis of a rare mitochondrial disease. A highly specialized genetic sequencing had been done with Kate’s DNA in the late winter of 2011. After 8 months several genes were identified as suspicious.
Once Brian and I gave blood and the same recessive defect was found on our genetic code, the diagnosis was confirmed. On this day, 12 months ago, we sat in a room with our metabolic doctor, Dr.C and talked about the fact that our daughter has a recessive genetic disease that she has inherited from both Brian and I. It was a disease that had been causing dysfunction of her mitochondrion – the energy producing part of every cell in her body – and had been wreaking havoc on her body, causing more than 10 identified medical conditions. There was very little understood about the dysfunction becausse on that particular day, at that particular moment, Kate was only known case in the world with this rare genetic disease. It had no name, it had no clinical description, there was nothing known about how the disease might progress, and there was no treament or cure.
This week both CTV News Ottawa and Global National will be running stories about Kate’s rare mitochondrial disease. The CTV story airs tonight (Wednesday, November 7th) at 6 p.m. Stay tuned about Global Nationals story which will feature the specific genetic testing done to identify Kate’s disease and what this important diagnostic tool might mean for other children who are undiagnosed with chronic disease.
Kate’s Bilateral Cochlear Implant Surgery at Sick Kids
Tomorrow, November 8th is the second anniversary of Kate’s bilateral cochlear implant surgery at the Hospital for Sick Children in Toronto, Ontario.
This was the surgery was never to happen for Kate. We had known for more than a year that Kate had progressively lost all her hearing due to her disease, but because Kate was so chronically unwell and had suffered an acute life threatning event after a general anesthetic, it was recommended that she not undergo a CI surgery.
There will be detailed separate post on this story somday – it is a long and emotional one and I really want to tell it to you and do it justice.
What I want to say about today is that I am so grateful to two very important men in our lives. Dr. Blake Papsin, Kate’s CI surgeon in Toronto, who returned a phone call from a desperate mom after she left him a tearful voicemail asking for his help. A man with equal amounts of bluster and compassion. He is someone whose skill, expertise, and compassion for our child I will NEVER forget. He was able to give Kate a great gift, and his skill ensured a quick an efficient surgery that minimized the risk for Kate.
And Dr.Jamie Robertson, the anesthesiologist who made Kate his own personal case study. He made Kate’s safety and care his absolute responsibility and he did it with impressive elegance. He turned the study of medical anesthesia up side down ensuring that the drug cocktail and monitoring he used for Kate during her surgery would be the best possible and the safest possible. He even wrote us a summary letter describing his technique and offered to consult to CHEO or other medical centres on any further anesthesia issues for Kate. I will never forget the closing line of that letter: “I truly hope Kate never has to have another procedure requiring anesthesia”.
Kate’s First Day of Kindergarten
What can I say. Struggle, decision, frustration, change, new direction, excitement, and joy – all words (and there are more) I would use to describe the process of registering Kate for, and starting her journey at public school with the Ottawa Carleton Disctrict School Board.
Would it happen this week? Kate was only in the hospital a few short days ago. Would we have and Educational Assistant, and Itinerant Teacher of the Deaf, and the supports needed in the classroom (amplification system, toileting, sound buffering).
It came together and though it is still a process in the making. Kate managed to get to school in time for the 2012-2013 picture retake day. She wore her fuschia sweater with the bow, her black tutu, and her ‘fancy’ shoes. She walked into her classroom with her pink backpack and went straight to her cubby, turing to me to wave goodbye. She is so big and she is still so little. I felt tears of joy well up, but none were spilled. I think they simply dried up because I was so happy for HER.
I feel like the second week of November needs a celebration night in our house. Cupcakes and sparklers might be in order for Friday night family pizza night.