Searching For Solid Footing

Yesterday, Monday, February 16th Kate was to be admitted to the Centre Universitaire Hospitalier Ste.Justine (Ste.Justine) in Montreal for conditioning therapy in preparation for an allogeneic stem cell transplant. A bone marrow transplant (BMT) on February 23rd with her 10 year old brother Jack as the donor.

Remember my last post about decision making. This is the decision that has been made. It is the biggest decision of our life and it has been incredibly difficult to make.

I am writing this, and we are not at Ste.Justine. Kate’s BMT has been delayed due to unforeseen medical complications. It might be a good thing as the Ste.Justine team gets better prepared for her and the medical complexities that surround her. BMT is never straight forward, but for Kate is it even more complex. The protocol ‘checklist’ has to be edited and designed to be specific to her medical complexity. We don’t have a new date yet, but this breathing room has allowed me to write this post and to share some information about this journey.

 

 

 

Where it began…

Many of you who follow this blog, or who have visited Kate’s CaringBridge site know the history of her diagnostic odyssey, medical journey, and her ‘status’ as the first child diagnosed in the world with a rare form of mitochondrial disease called SIFD.

Once the discovery of SIFD occurred a small group of children were identified who were diagnosed with the same recessive genetic disease – about 15. Many of those children were diagnosed posthumously. But one child who was alive was doing very well, and was not suffering from any of the complex medical conditions the other children with SIFD were suffering from. That child had had such acute presentation of SIFD at age 9 months (specifically the sideroblastic anemia and inflammatory cascades), that he had received a ‘hail mary’ bone marrow transplant. And it worked. He has not suffered any further episodes, and is the only known case with SIFD who has developed neuro-typically.

And so began the conversation with us two years ago about considering a bone marrow transplant for Kate.

 

Imperfect information…

So we don’t have perfect information about the impact of a bone marrow transplant for Kate. We do know that to date 4 children have been transplanted worlwide for SIFD. 2 have survived and are doing well – with no further episodes, and 2 have sadly passed away as a result of the procedure.

We know that the BMT would stop the episodes Kate is having, it would cure her sideroblastic anemia and it should prevent further damage from the disease. But this latter aspect of the BMT result is not clear. Kate’s brain, heart, kidney and liver could still be impacted further post-BMT.

We expect a better quality of life for Kate post-BMT, but getting there will require a significant amount of sacrifice and suffering on her part. A bone marrow transplant is not an easy thing to go through. It is considered one of the most invasive and difficult procedures in medical practice. We don’t know if she will get through it (5-10% chance of mortality), or if there will be unforeseen consequences because of the bone marrow transplant (5%).

We do know, based on the ever-changing information and insight we have into SIFD, that without intervention, these children tend to die before they reach adulthood. They suffer a ‘catastrophic event’ characterized by an acute onset cardiac condition (cardiomyopathy) or an acute episode of inflammatory cascade that presents like an idiopathic septicaemia.

SIFD is progressive and it is degenerative. There is no escaping that.

What we don’t have is the crystal ball to tell us when this might happen.

We have been given a choice – and our medical team feels that the BMT is the best course of action to pursue. Our other choice is to live with SIFD and take our chances on Kate dying from this disease.

 

What is a bone marrow transplant…

There are a ton of websites dedicated to BMT. The one I like best is www.bmtinfonet.org

 

Jack’s role…

In an allogeneic stem cell transplant, a donor is required. Typically the donor is sought out from within the persons immediate family as a relative can offer a better ‘match’ and the better/stronger the match the less risks there are with the transplant. Sibling matches are considered the best.
Neither Brian or I are a match.
Jack is a perfect match for his sister. A 6/6 sibling match.

We are grateful that Jack has agreed to take on this role for his sister. He understands that his body is strong and he has something he can share that might help Kate. His first reaction was that he might end up with a ‘clone’ sister (pretty funny). We’ve described the process to him. The surgery he will undergo. How he will feel, and the impact it will have on him and his activities. As is his nature, he has accepted this role with little drama.

He is not a hero, but he is very brave.

I wouldn’t have expected anything different from Jack. He is an incredible boy and one of Kate’s greatest champions.

 

Kate…

I am lucky to have two incredible children. While Jack is brave, kind and empathetic, his sister is courageous, stoic, strong, loving and TOUGH. AS NAILS. She is a survivor. And she is one of the happiest people I know despite it all.

Kate will require 5-7 days of intensive ‘conditioning’ before receiving the transplant. To quote one of her doctors, they need to bring her to the brink of death and then bring her back again. Her intensive chemotherapy is needed to kill off all of her bone marrow to prepare her body to receive the transplant from Jack’s body.

The chemotherapy will be introduced through a central venous line (Broviac) that is inserted into a large vein above Kate’s heart. Because of the multiple blood draws, the infusion of chemo, medications, and the blood transfusions Kate will require, a central line is required to easily access Kate for these procedures.

Once Kate has finished the conditioning regimen (days -10 to 0), she will receive the transplant. This is a minor event I am told, but an emotional one, as the stem cells collected from Jack’s bone marrow are infused via an IV bag into Kate’s central line. The stem cells then find their way to the bone marrow space and start to set up shop.

Day 0 – Day 7 Are supposedly the most difficult. Kate will be very sick from the effects of the chemotherapy drugs and immunosuppression drugs. She will be on full isolation for close to 8 weeks. I can be with her, but will need to be gowned, masked and gloved at all times. Access to her and her room will be highly restricted.

Kate will lose her hair, she will have nausea, vomiting and diarrhoea, she will have sores in her mouth. The BMT team is ready to support her through all of it, and prepared to deal with any unforeseen issues that might come up.

Day 7 – Day 40 will be a period of waiting for engraftment – waiting for Jack’s bone marrow to take over and start to grow in place of Kate’s. Graft Versus Host Disease and rejection of the transplant are the risks during this time – as well as organ failure, bleeds, and infection. Kate will still be feeling unwell and recovering from the conditioning regimen and the transplant.

After 2 months – If all goes well and Kate is stable, she will be discharged to home. The first 6 months will be critical as wait for Kate’s T-cells to show themselves again. Until that time, Kate will have no functioning immune system and will need to be in isolation at home. Her nutrition and her hygiene and protection from any mold, disease, or illness are extremely important. A  common cold could be devastating. She will be required to wear a mask when she leaves the house and she will travel to Montreal and CHEO weekly for medications, assessment, medical management and follow up. We won’t be allowed any visitors into our home at that time.

Post 6 month – If all goes well, we expect Kate to be able to return to school and other activities. She will continue to be on several medications as her new immune system grows and gets stronger in her body, and she will be monitored closely. It will take at least 2 years for Kate to have a fully functioning immune system.

 

The Plan…

We are currently waiting for a new date for Kate’s BMT. Her bloodwork was poor last week and a surgery to install her Broviac could not go forward.

We are mobilizing friends and family to help us while Kate and I are in Montreal. We are grateful my parents have moved here for a few months to support us.

It is not clear what we need right now while in Montreal or when we are discharged to home, but we will be sure to ask as support will be welcome and much needed.

 

The path ahead…

It has not been an easy journey – these past 7 years. Having a child that is living with a long term chronic and acute illness that is ultra-rare has changed me / us / our family in ways many people could not even imagine.

Kate’s life, her journey, her diagnosis, have changed the lives of others.

That in and of itself is incredible. So much power and awesomeness that this little girl has brought to the world.

So the journey continues. And Kate will be awesome again. And she will help others to learn, and to live better lives and to not be devastated from the ravages of this disease.

That is not a gift I would be willing to give on Kate’s shoulders, but it is our reality. It is her reality.

 

I am grateful to the incredible medical team we have at CHEO and Rogers House, and for their guidance in this decision.

I am grateful to the team at Ste.Justine, and the international SIFD team for all the preparation they have done for Kate.

I am grateful to all of you who are following our story here, on CaringBridge, on Facebook and Twitter.

 

Life is hard – there is no doubt. And others have it harder – some easier. This is our place in life and we are challenged with making the best of it and living it the best we can and with as much ferocity and compassion as we can.

Go Kate Go! 

 

Julie