To BMT or Not to BMT

The latest big decision that I’ve been racking my brain over is the notion of a bone marrow transplant. Initially I just dismissed the idea entirely.  That was the first week.  I can’t believe it’s only been two weeks since the diagnosis (D-Day). 

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 5^thbirthday.  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 5^th 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 5^th 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.   

Hand Foot and Mouth

Last Monday, Mila was not feeling very well.  She had a slight fever in the evening.  I gave her Tylenol before bedtime and the fever was gone by morning.  But oh what did greet me in the morning!  She had tiny little bumps covering her hands, feet and mouth!  I had heard that someone at Mila's school had the hand foot and mouth disease.  After a little research I discovered that it was going around, sweeping through the city from preschool to preschool.

I immediately thought of Niko.  Shit!  Mila is very affectionate with Niko… touching, kissing, hugging.  Niko doesn't have much of an immune system.  A cold or fever can lead to pneumonia or death.  I emailed their doctor right away.  He said that we shouldn't worry.  This disease usually doesn't affect infants under one year nor adults.  You don't really treat the virus.  It just plays itself out in about 5 to 7 days.  By the time the fever fades and the bumps show, the kid is no longer contagious. To play it safe, I kept them apart and Mila spent the night at my mom's.  But to my horror, Niko developed the little bumps all over her hands, feet and a couple under her mouth.  One day later some of Mila's bumps turned into big blisters!

And to make matters worst, I had a fever Wednesday night and then I developed the bumps on my hands and feet two days later.

So far, from my experience when the doctors say that we have nothing to worry about, it means it's time to worry like hell.

By the way, if you're curious what the hand foot and mouth disease feels like, it feels like there are thousands of needles pricking you at once, going in and out all day long.  And your shoes feel like they're 2 sizes too small and everything chafes.  I tried to ignore it because I've got other things to worry about.  However I could barely put weight on my burning feet.  We are all better now.

I'm constantly surprised by how incredibly strong children are.  The pain that they go through is so humbling.  When they feel pain, like teething or all the disgusting viruses they are plagued with from school, you just kiss them and tell them to go to sleep.  This is the first time I've shared an illness with Mila and it's shocking how well she handled this.  She just shook it off.  Niko as well.  She seemed to have hardly noticed at all.  Mila's earned some gummy coca cola bottles.  And Niko, well more boob.

Eyes and Heart

Last Friday, Niko had an eye exam and an echocardiogram.  She did exceptionally well.  I was so very proud of her.  She never cried or protested. 

I ask the same question to each doctor who looks at Niko now, “Have you ever met an I-Cell patient?”  Unfortunately they all tell me no.

Report

Eyes:  Everything checked normal.  No clouding of the cornea. Retinas look normal.  She is a little far sighted but that is normal for babies this age.  The ophthalmologist told us to come back in a year and I negotiated a 6-month revisit.  Annual checkups would be routine.  Niko care is not routine care.  There is no telling the pace at which her condition will progress.  I need to stay on top of all her little parts (and there are so many little parts – eyes, ears, nose, lungs, heart, liver, spleen, bones, joints, the list goes on and on) to provide her with all the help she needs.

at the eye exam

Heart:  The results of the echocardiogram was normal; no valvular thickening or any ventricular enlargement.  This is a huge relief.  Of all the things that can go wrong, I worry about her little heart the most.  My name means heart and so the heart has always been quite symbolic to me.  I am just not ready to deal with a damaged heart yet.  It’s only been a week since the diagnosis.  I need more time. 

On a bright note, the echocardiogram technician was quite a zen master.  He had the calmest energy – calm eyes, calm voice, calm hands, calm center.  Niko seemed to have connected with him.  He really talked with her, not to me.  He kept calling her his “little dumpling”.  He stroked her and spoke oh-so gently to her during the whole echo.  I asked him the same question (if he’s met an I-Cell patient).  He said no, but he has seen a lot of unusual heart conditions in young patients, but none with the official diagnosis.  He also told me that he did his homework on I-Cell the previous day so that he would know what to look for in Niko’s exam.  I asked him if he works with children much.  And he replied that he is the specialist for children and has worked with children for over 20 years.  I was very happy to hear this because this means that we will most likely work with him again in subsequent echos.  Funny how something like this can make me happy now.     

She seemed to enjoy the echo, is that possible?

10 lbs!

Niko finally hit 10 lbs.  Last Friday the 23rd, she weighed 10lbs 1oz.  I'm so proud of her!

Here's a leg shot.

End of the Pity Party

After receiving the diagnosis last Friday, I thought that I would stop posting to this blog.  I wanted to do this blog for Nikola.  Therefore I didn't see the point anymore.

After shedding many gallons of tears, I've decided to end this pity party.  I'll continue to do this blog.  And I am doing it for Nikola.  I'm not the cheesy sentimental type.  But I think everyone gets to be emotional and sentimental at least a few times in their lives.  So here's my cheesy line.  This blog allows Niko to be heard.

This blog will be shared with our families and closest friends who would like updates on Niko.  I know a lot of people are asking about Niko's condition and we haven't shared the news with anyone other than family yet.  I can barely speak due to the hard lump in my throat.  Each sentence takes about five minutes to complete.  So rather than repeating the painful monologue over and over again, this blog is easier for me and Niko.  Niko doesn't like it when she's drenched in my tears, and since I carry her all the time, she cannot escape the waterfall.

So this is the end of my pity party.  My main focus now is to give her lots of love, the best quality of life we can afford, and make her feel the least amount of pain as possible.  It's also my job to stay on top of all her medical needs and learn all I can about I-Cell.  Most of the doctors we met admitted that they know very little about the condition and have never met any I-Cell patients at Kaiser.  I cannot rely on them to know all the answers nor foresee the exact direction of the I-Cell progression.

I'm also going to enjoy this time when she is still, more or less, a "normal" baby.  She still looks pretty normal if you are not studying her specifically for signs of I-Cell.  I'm going to enjoy the interaction with strangers while they are still giving us looks of awe, rather than looks of pity.  

Ironically, I'm now fully enjoying and appreciating motherhood.  Life has a weird way of teaching perspective.  The responsibility of raising a Nobel Prize winning overachiever has been lifted off me.  Conversely I don't have to worry that she will become a serial killer one day due to my bad parenting.  Sadly but plainly, because I don't have to worry about her future I can focus on making her smile by reading books in my best character voice.  I can smother her with boob time without thinking that I'm spoiling her.  I can focus on the current moment without any nagging worries of the future.  I'm enjoying being a better mother to Mila as well.  I think we're having more fun already.

Today Niko has given me some no-cry awake time.  

The future

Before the devastating news we received last Friday, I was so worried about Niko.  I was worried that she might have a form of skeletal dysplasia that would put her at a disadvantage for the rest of her life.  I was worried about her tough existence of being teased or stared at her whole life.  I was worried about her finding someone to love her and marry her and take care of her.  I was worried about the odds of her passing the disorder to her children.  I was worried about her future.

Now I'm worried that she'll live to an age when she will realize that she has no future.

I'm unable to understand my feelings right now.  I weave through sheer devastation and denial.

I'm somewhat relieved that we know the answer now, which is the only thing that is lifting the weight off my chest, but not my heart.  No more self diagnoses via Internet.  I had actually found and read about I-Cell online but dismissed it.  In the history of Internet-self-diagnoses, I believe the outrageous worst case scenarios are often unlikely and placed online only to scare and punish the over zealous search junkies.  In my case, I hit the jackpot.

I don't know how to accept the fact that nothing can be done.  Nothing can be changed.  All I can do is love her and try to relieve her of pain.  With so many serious medical issues that she will face I know this will be a very gruesome and tiring job.

Up till now, my solution for Mila's pain has always involved kisses.  When Mila falls and scrapes herself, I kiss her wounds.  It stops her tears immediately.  I don't know what to do about a leaking heart.  I can't fix oxygen shortages.  I can't stop her joints from stiffening and fusing.  What will I do if her liver doubles in size in one month?  I can't do anything for her.  I don't know how to protect her and make her better.  I don't know how to stop her tears.  What am I to do?      

I-Cell (ML II)

Here is a very comprehensive page for the symptoms of I-Cell and how parents can cope.