Maddie Reitz Stem Cell Transplant

I'm Maddie's Aunt Tracey, Jen's sister.  Maddie has been sick for as long as we all can remember.  It is a miracle she has a chance to be cured! However, the cure will also cause her to be infertile.  We want to give her the opportunity to be a mother in the future.   The only chance she has is to freeze her eggs now, before the stem cell transplant.  Unfortunately, the cost is not covered by insurance.  

In addition, Jen will be out of work without pay for at least 8 weeks while Maddie is in the hospital. It is actually required by the hospital that she be there with her. This is going to be a terrible burden on their family along with the stress of a very grueling transplant for Maddie. 

As much as we are grateful for this treatment, it comes with much sacrifice emotionally, physically, and financially. 

Please help me help them.

Caring Bridge Update
July 5, 2019
Journal entry by Jennifer Reitz — 1 hour ago
I apologize for the delay in giving an update. It has been a hectic 2 months around here with Gavin graduating from the prep school, Maddie graduating from high school, graduation parties, getting Gavin back to the Air Force Academy last week and seeing multiple physicians in a variety of specialties. A lot of fun exciting times mixed in with a lot of stress and emotions. To say things have been overwhelming is an understatement and they are only just beginning. 
In talking with her care team at Mayo, physicians at both Boston and Maryland specializing in treatment of chronic granulomatous disease and the transplant team at the U of M, it is the general consensus that a stem cell transplant would be the most appropriate treatment for Maddie. It has been a hard decision to make as it is not without serious risk and sacrifice, but the ultimate outcome of a cure is what we need to focus on. As I mentioned in the previous journal the hope was to get her in a trial for gene therapy. She did not qualify for a trial for a few reasons. Reason #1, she is female. As I mentioned, most pts affected with her type of CGD are male because it is x linked. You do not see many females affected, or as affected as Maddie. Reason #2, her lab values don't make the cutoff. It is all based on neutrophil function. The trials require a neutrophil function of less than 5%. Maddie's are at 30%. Although that is good for her and risk of infection, it doesn't change her bodies autoimmune response to having CGD. Long story short they believe her Crohn's is caused from the CGD and if they cure the CGD her Crohn's will go away as a result. Although she does have a history of multiple infections and typical infections you see with CGD, that is not the main reason for doing the stem cell transplant. It is to treat the Crohn's and complications she has had with it. Reason #3, she has a fully matched donor. They will only consider gene therapy for a pt that has no potential bone marrow donor. It has been determined that Gavin is a full match! That was a huge blessing to find out. There is a 1 in 4 chance that a sibling is a match and he matched 10/10. The hope is when you find a related fully matched donor, there is less risk of your body rejecting the stem cells. As a result of these 3 reasons, she is not a candidate for gene therapy. That left us with a stem cell transplant or continue with her current care trying to treat her Crohn's in the typical fashion and taking our chances of additional complications the rest of her life. There are no good options as far as Crohn's medications at this time. She is currently on the highest dose and frequency of Stelara and the next medication options would be research based. They don't think she would qualify for research medications because she has had too many surgeries removing parts of her small intestine and colon. So we would be gimping along trying to minimize symptoms and hoping for another medication option to present itself and praying she doesn't have a major complication while we wait. Believe me, the risk of stem cell transplant complications scares the hell out of me and I have wavered back and forth on what the right thing to do is. The thought of watching her go through something so horrific makes me sick to my stomach. But the thought of a potential cure and giving her a life without constance sickness or wondering what complication is around the corner for her sounds pretty amazing. Both Boston and the U of M have been very successful with stem cell transplant in patients with not only CGD but who also have Crohn's as a result of the CGD. Boston has done 12 transplants and all of those patients are living, are cured of their CGD and no longer have Crohn's. The U of M did not give specific #'s but their cure rate is the same. Her transplant doctor at the U of M has been in contact with the physicians at Boston, among other physicians and they are all in agreement on what regimen to use and how to get her the best outcome. Knowing so many people have been involved in her care does make me feel better.
So what to expect during the stem cell transplant:
Prior to transplant she will need to freeze her eggs because they said she will likely be infertile after the chemotherapy. We are in the process of trying to figure that out. Insurance unfortunately does not cover the cost, even though it is because of a medical condition. It is expensive, very expensive and they expect payment up front. We have found a company who is willing to cover the cost of medications for the ovarian stimulation which is huge since that expense is around $4000. The egg harvest and testing prior to the egg harvest in around $7500. If we can figure out a way to move forward with it, she would likely start everything the beginning of August and that process should take about 3 weeks. Then starts the stem cell transplant. Week one is called work up week. They  have her come to the clinic for several lab tests, imaging and any other procedures that may need to be done prior to transplant. Pending all goes well, she would be admitted the following week for what they call conditioning week. This is a week of chemotherapy. The point of doing chemotherapy is to kill her immune system so it doesn't attack the new stem cells that will be transplanted. They said this week she will feel tired, have nausea and vomiting and start to lose her hair. The conditioning week starts at day -7 and stops at day 0. Day 0 is then transplant day. Gavin will be admitted to the hospital and they will harvest his bone marrow from both hip bones. He will be brought up to the room next to her and recover. They said he will be discharged either that evening or the next morning depending on how he responds. Shortly after the bone marrow is harvested, they will transfuse the stem cells in Maddie via a central line. The same line they will be using for her Chemo. They told us to not expect much to happen that day or the next few days. Other than her being tired and nauseated, not much new happens. At day 3 they said things get bad and continue to get worse until around day 14 to 19. As a result of killing off her immune system, her cells aren't able to regenerate meaning as the gastrointestinal tract sloughs off cells like it is supposed to, the new cells are not regenerating so she will develop open sores from her mouth all the way through. They said the only way to explain it, is miserable and the worst pain you will have felt. They treat with a continuous dose of IV morphine with an option to use a patient controlled bump when needed. Around day 19 the hope is that Gavin's stem cells will start to function. As that happens, those sores eventually start to heal and she will get stronger. During that time we are waiting for his cells to engraft, she will likely be in bed with little movement so they have PT come daily to work with the muscles. The goal to be discharged is to be able to walk short distances, have no fevers and cell counts at a certain level. They said some people will still not be eating by the time they leave and may go home on nutrition through the central line or through a feeding tube. The predicted length of stay in the hospital is 4-8 weeks. After she is discharged, she has to live within 30 minutes of the hospital until about day 100 after transplant, so for 4-6 months. We are blessed that Grandma and Grandpa Sole meet that criteria and plan to stay with them during that time frame. It is a lot stress on them, as they are scared to responsible for any infection she would get at their house. The Ronald McDonald house is another option if need be. She will be going back and forth to the U for daily blood work and imaging to make sure she is not having complications during that time frame. They told us to expect complications along the way. During hospitalization they said most peoples kidneys partially shut down so she will be on medication to help with that. 90% of people do end up with some type of infection because your body can not fight off anything. They said viral and bacterial infections they can better treat. The issue comes in when you develop a fungal infection. Pts with CGD are prone to fungal infections, so this a risk for Maddie.
I know this has been a long journal with a lot of information and information that as a I said makes be sick to think about. Nobody wants to see their child struggle or have to go through the things she has gone through or will go through. You second guess what is the right decision and hope you are doing the best for their future. I envy the people who have healthy kids and can just focus on the day to day mishaps. It hurts my heart when I think about what she has ahead of her. She is a strong girl and has proven over and over she can do this. AND SHE WILL GET THROUGH THIS! I have so much more reservation and fear than her at this point. She has not looked back since they told her this was an option. And maybe that is what she needs. A positive attitude going through this is gonna make all the difference in the world. I just hope I can be as strong for her. Please say some prayers for the right answers and the right outcomes. It is stressful to not only think through the medical issues, but the logistics of who to care for our four legged friends during this time, what is work going to think when you need to be out for months on end and how to financial get through it. Love you all for the endless support!
We don't have a date set yet, as we are waiting for the Air Force Academy to get back to us on leave for Gavin. But we are hoping the end of August or beginning of September. In the meantime hoping to get her egg freezing accomplished.