Wednesday, December 23, 2015


Some of the questions I hear the most about Macy is regarding her transplant. When it's going to be, why we are waiting and not doing it now, what the process is, and what it entails. All great questions that I usually don't have time to really answer in depth when I see someone, so I can do that now.

One thing to keep in mind is Fanconi Anemia is a very rare and complex disease. And the fact that it is so rare makes it that more complex; especially when it comes to treatment options---or lack there of. The bone marrow failure is only one part of the disease, but that's the focus I'll take in this post due to the questions.

At the end of last summer (end of August) Adam, Macy, and I traveled to Minneapolis, MN to meet with her FA Doctor. He is an FA expert, and any time we get the chance to meet with him we do because the man is a genius. I always feel better about Macy having a chance to have a future when we leave his office. He's also one of the top FA researchers in the world; searching for a cure. Being able to sit face to face and talk with him is a truly special thing.

[On a side note: Since FA is so rare most doctors have never heard of it. There are 3 hospitals in the USA that are considered excellence centers for FA, and do transplants for those with FA. They are Sloan-Kettering in New York, Cincinnati Childrens in Ohio, and the University of Minnesota Masonic Childrens Hospital in Minnesota. When Macy was a baby we met with the Minnesota team and connected right away. So we moved forwarded knowing that would be her transplant hospital.]

After reviewing Macy's records her Dr. mentioned her counts seem to be falling faster than the average kiddo with FA. For example, in the last two years her platelets have dropped an average of  almost 100k per year. If possible it is preferred to start the transplant process in early spring to avoid cold and flu season. That can't always be controlled, but if there is some leeway that's the goal.

When it's decided to go to transplant is ultimately different for every child.  There are numerous factors that come into play. For counts they usually will talk about it once platelets get down to about 20k, and the ANC is around 500 or so. (Normal platelets are over 150k and normal ANC is over 1500). There are other blood counts that are important too like Hemoglobin and White Blood Cell count, but platelets and Absolute Neutrophil Count are the main focus. During our meeting last August Macy's platelets were between 40-50k and her ANC about 750. There are many things that affect counts. The more Macy gets sick the quicker they will fall. Some kids's fall faster/slower than others and some fall for a while and remain steady for a while before they start dropping again.  There's really no way to know exactly when this will happen. However, based on where Macy is now, her time is coming sooner than later. It's not like when she was a baby and we could mentally put it off because it would be 5+ years before we had to worry about it. It'll more than likely be in the next 6-18months if I had to guess. There are things that would expedite transplant as well such as if Macy developed leukemia or pre-leukemia or if she started getting serious infections frequently. There are certain things that occur before transplant that can increase mortality rates. These are the things we know for FA kids: 1) if they develop leukemia prior to transplant their chances of survival go down greatly. 2) kids that get blood transfusions prior to transplant have a greater mortality risk. 3) kids that have chronic serious infections prior to transplant have a lower survival rate, 4) kids older than 10 years old at the time of transplant have a greater mortality rate, and 5) kids with an exact sibling matched donor have less complications and a greater chance of survival. 

So why not do the transplant now while she's moderately healthy?
let me say, it's not easy having to sit back and watch your child's health deteriorate until they are close enough to death in order to try and save them. It really sucks big time. But there are reasons for waiting.

One is since FA is so rare, kids with this disease need a highly specialized bone marrow transplant. They can't get a standard one or it will kill them. All three excellence centers I mentioned above use different transplant protocols that are basically still in the trial and error phase. What this translates to is that lots of kids still die. They die during transplant or soon after due to complications relating to transplant. Therefore, you don't want to do it until you have to.
Second, the transplant process comes with over a 1.5 million dollar price tag. Health insurance companies will not cover their part if it's done before they deem it's absolutely needed.
Third, the after effects of transplant are hard on kids. Besides the hair loss, chemo can cause learning disabilities, and sterilization amongst many other things. There are some pretty serious side effects including kidney or liver damage depending on the chemo that is used. FA transplants typically use the kind that is hard in the kidneys. Macy only has 1 kidney so it needs to be monitored very closely. 
Fourth, the twins. I will have to get an apartment close to the hospital for a minimum of 3-4 months. Adam plans to come for the 1st month but will then need to return home to Michigan to go back to work as he is our only source of income. The twins will have to stay home because we cannot take the risk of them exposing Macy during the transplant process. It would be a life and death situation and isn't worth the risk. Right now they just turned two, and I really don't want to leave them when they're this young unless I have to. It'll be really hard on them. 

So basically we need to wait until Macy's immune system is next to nothing, but before she develops leukemia or needs transfusions or starts getting chronic infections. It's not an easy answer, and there is a lot to get in order. 

Right now Macy is getting her peripheral bloodwork every 3 months, and whenever she gets sick. She ended up in the hospital in the end of September and the weekend of Thanksgiving due to extremely high fevers and viruses that her body couldn't fight off, so she was on IV antibiotics. We've also noticed that whenever she gets sick now she gets an ear infection. She's never had ear infections before so we are thinking its from her counts being so low. Her bone marrow biopsy to check for leukemia and to see how many blood cells her marrow is producing is scheduled for January 4th. This will give us a much better picture of how her bone marrow is doing right now. 

Since this is already a pretty long post I will save the transplant process, etc. for another post. 
Wishing everyone a happy and healthy holiday and New Year! 

Take care, Jenn

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