Yssabelle's Journey

This is Yssabelle, or Yzzy as I call her. She just turned seven, but shes not just any average seven year old girl. She's special, and I mean really special... I know what your thinking all parents say that, but Yssabelle is a different kind of special. See, she has two rare and terrifying diseases. Both of which took me days of practice to be able to pronounce correctly. Systemic Mastocytosis (SM) and Hemophagocytic Lymphohistiocytosis (HLH). Mouthful right? Try understanding what they each do to her little body and how to manage them. Its been an adventure in the medical field that I was never ready for, but over the last seven years we have learned and found ways to manage.

If you've read her facebook page, so far, you know we've been managing her Mastocytosis since she was diagnosed at four months old. We have traveled all over the US to learn more about this life threatening disease and to see different specialist to help us find the right treatment that works for Yz. We currently see a specialist that is in California for her Mastocytosis management. Which incredibly was headed in the right direction after a year and a half of IVIG therapy and being completely TPN dependent. We were so excited to hear the good news; but Yzzys body never likes to make things easy...

In Febuary, Yssabelle started having episodes of severely high fever (over 104) without a known cause. She often had liver inflammation and nausea/vomiting during these episodes. We did many tests but were never able to identify the cause. Everyone was thinking this was her Mastocytosis, and that it was not going to let us win easy.

On Sept 1st, Yssabelle was admitted to the hospital, after spiking another fever and vomiting blood. After several months of not knowing what was causing these increasingly severe episodes, Yssabelle was diagnosed with hemophagocytic lymphohistiocytosis (HLH). Hemophagocytic lymphohistiocytosis is a disease that causes excessive production of certain white cells. These white cells also release massive amounts of inflammatory molecules called cytokines, so many that it is called “cytokine storm.” These inflammatory molecules affect the body in many ways. It can make the liver and spleen swollen and affect how well they function. Blood cell counts are lower than normal. Since platelets are often low, patients may have a difficult time clotting. Ferritin, a form of iron, is found in the bloodstream in very large quantities. Triglycerides are also often high.

HLH is a very serious condition that can occur as a primary disease or secondary to something else. At this point, we think it is maybe secondary to her mastocytosis. We need more testing to know. SM can also cause a lot of the same symptoms, like the swelling and dysfunction of the liver and spleen. It is possible that some of her regular symptoms are partly from HLH and that treating it would improve her baseline symptoms. Because SM and HLH are both inflammatory conditions, they could irritate each other, so we have to be careful to watch for reactions.

She was moved to the hemonc floor and was started on treatment for HLH. She started responding to the treatment and all her lab levels were trending in the right direction! We started doing happy dances because we thought this was our answer. We were admitted for just shy of two weeks, at this point her cycles of fever were almost starting exactly two weeks apart. Sure enough, we were home two days before we were admitted again for fever.

We restarted the treatment she had been on but this time her body was not responding as well and as it did the first time. After two days of discussing options and figuring out the best course of action we decided to go with the conventional treatment for HLH.

Yssabelle started eight weeks of induction chemo to try and knock down the HLH on October 10th. She will need aggressive ongoing treatment for some time. When she started the induction chemo everyone was hopeful that it would be enough to put her HLH into remeission.

Unfortunately it was not.

Its been a big discussion and a lot of reading and research since September when Yzzy was first diagnosed with HLH but we were finally at the point a where decision on the next step needed to be made.

We are moving forward with doing a Bone Marrow Transplant. The tentative date of Transplant is Dec 29th. This would put Yz inpatient for prep on Dec 19th. She will be inpatient for at least +45 days after transplant.

This will be a very hard process.It will be a myeloablative preparation.

The preparative regimen will:

• Destroy as many of the diseased cells that are left in yzzys body as possible

• Weaken her immune system to help keep her body from rejecting the donated cells after transplant

So for now we are just waiting for the donor to say yes or no to the date and we will go from there. I will update you guys when we know more. During her transplant and the process she will have restrictions on visitors. This is because she needs to be kept in the most healthy and germ free environment as possible. She will unfortunately not be able to see her extended family or her brother this Christmas except for skype dates.

If you guys have questions or would like to know something please ask and I will do my best to better explain it all.

Right now she needs all the happy thoughts, vibes and good juju she can get. December is going to be a rough month for all of us..

Love you guys.