My initial thought was, “Fuck that! I’m not interested.” Why would I put her through the painful procedure of a bone marrow transplant when the best outcome is a potential additional year of pain? I assumed that the transplant would only extend her life without improvement. My worst fear is that she would grow old enough to realize that she’s dying.
Since D-Day, as you can imagine, I’ve done nothing but research I-Cell. And I’m starting to look into bone marrow transplant (BMT). I found a support group for I-Cell families on Facebook. I guess Facebook is good for something. So far I’ve chatted with a couple families over the phone.
The first person I talked with is a mother of two I-Cell children, both received BMTs. Her older daughter had the procedure at month 14 and her younger son at month 4. Her daughter passed away 10 days before her 5thbirthday. Her younger son is now 6 years old. This woman is really involved in the small I-Cell community. And she’s a strong advocate for BMT. She has met many other I-Cell kids and she believes that the procedure has made a real positive impact on both her children. Compared to other kids, I can see that her children are healthy examples with relatively advanced developments. Both her children were physically active, developed the ability to speak (somewhat) and crawl, and her daughter was able to walk with a walker. Most importantly to me, neither of her children had the need for all those scary tubes. She seems to imply that when an I-Cell child undergoes a BMT at an early age (before the deterioration), he/she has a shot at a quality life. So that painted this picture in my head. BMT = crawling, talking, happy child. No BMT = horizontal vegetative child with G-tube, tracheotomy and oxygen tubes. Of course, this is likely not true. All children are different. Even I-Cell children are vastly different. Some do quite well most of their lives and others have faster progressing symptoms.
Then Kiril and I had a conversation with the leading I-Cell geneticist in the US. We spoke with her at length. She repeated several times during our conversation that she used to say that she was unclear about the affects of BMT on I-Cell patients. Now after seeing years of the experimental procedure and working closely with the directors of transplantation she advises against BMT. She believes that there is no positive impact on the I-Cell patients, and she knows of almost every case in the US. In fact, she is working with one of the transplant directors at the Division of Hematology-Oncology and Blood and Marrow Transplantation of the University of Minnesota to write an official statement arguing against BMT.
It’s understandable to hear a parent advocating for BMT because both her kids have had the procedure and she’s protecting her decision. And it’s helpful to hear the opposing argument made by the geneticist, as she has gathered empirical data. I needed just a little more.
So I talked with another parent. This is a mother of an I-Cell girl who died just before her 5th birthday as well (not BMT related). They were devastated about her diagnosis as you can imagine. They wanted to do anything possible to help their daughter. They traveled from New Jersey to the University of Minnesota for the BMT. The director of transplantation tried to help them make an informed decision. But with such little data, there was little information to help them along. They were told that their daughter “was going to go through a lot of pain for unknown benefits, if any.” This happened a few good years back when BMTs on I-Cell patients were even more experimental than it is now. I believe her daughter received the 5th transplant in the country. Their daughter did not take well to the BMT or chemo. She stayed at the hospital for 100 days after the transplantation. Her body filled up with fluids. She had to have dialysis nearly everyday. The parents don’t regret their decision at all because they did what they thought was best to give her a fighting chance. But if they had to do it all over again, they would not go through with the BMT.
So with all the info that I have gathered based on these conversations, we are inclined to pass on the BMT. Not only would it be absolutely excruciatingly painful for Niko, there is zero proven benefit. And if our insurance company does not cover the procedure (a conversation with the insurance company is one that I have not had yet) it could be millions of dollars when you account for the procedure, the hospitalization of anywhere from 40 – 100 days, and all the chemo, medication and follow up appointments after.
And lastly, this is a total side note. Our geneticist received a lengthy email response from the doctor who discovered I-Cell in 1967, Jules Leroy, a Belgian pediatrician and geneticist. In fact, this disease is sometimes called Leroy I-Cell. Dr Leroy actually congratulated our geneticist for having found another I-Cell patient. He wrote that he was “proud”. I’m sure the email was not intended for our eyes. He requested copies of her X-rays and test results, and requested for future X-Rays when she turns one year old. This tells you how small the I-Cell world is. One and a half weeks after our diagnosis, we hear from the man who discovered the disease requesting for Niko’s medical records.
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