The Goal of Reaching 100 Days When Your Child Has a Rare Disease

One hundred days.

That was our first major major goal post transplant. We had to make it 100 days to finally be able to go farther from the hospital and to start to reclaim a normal life. One hundred days was our first goal. But as any parent of a kid with a rare disease knows the path you take rarely is “typical.”

Our son got an unrelated cord blood transplant at 18 months as a treatment option for his rare lysosomal storage disease MPS 1 or Hurler syndrome. We spent over 50 nights in the hospital initially which is more than we anticipated. Getting out of the hospital was our first major hurdle, and it felt like such an accomplishment when we were able to walk out of our hospital room and head to the local apartment. You see just cause we left the hospital did not yet mean we could leave the vicinity of the hospital. But just walking out felt like progress and a step in the right direction, regardless of the fact that we had to bring him back to the hospital for treatment/therapy three to five days a week for the next month. The difference between being inpatient and out patient was a major distinction for us and a major win. We have watched so many not have the joy of ever leaving the hospital post transplant so we realized how lucky we were.

One hundred days post transplant should have been about the time we were able to go home. But complications with his graft vs host disease and management of his medications had us spending 100 days in our little apartment trying to have some semblance of normal. That year 100 days and Thanksgiving fell on the same day. While the holiday did not look or in some ways feel like past holidays we knew how very lucky we were and we had so much to be thankful for. Our son was still alive and in some ways doing great and yet in other ways…the complications were still there blocking the easy path for us.

As time tends to do … it moved on. Eventually we got to go home and we started to wean meds and he seemed to be doing better. Our next major goal to look forward to was one year post transplant. By then he should have been off most of his meds and immune suppressants and we would be allowed to be with more than five people at a time, go to the zoo, play at the beach and so much more. While life had gone on we would be free again to do and play and just be a family of four without restrictions. Once again … rare disease path is not predictable. Our journey took a sudden turn backwards about two months before his one year anniversary that caused us to increase meds and in some ways go back to where we were eight months prior. Talk about a major blow. On one hand we were grateful for the doctors and the meds and the fact that our son was alive. We could recognize that this was just another bump in the road. On the other hand we grieved. We were so close to an important milestone and freedom and that quickly was taken away from us. The big party to celebrate a year post transplant and to thank those who stood by us would have to be pushed back a year. Starting a day care program would have to be pushed back. A vacation to the beach – pushed back. Sounds silly that those were the things that hurt to push back. My son was alive and in some ways still doing great. But I grieved. I grieved for the memories I wanted to make but couldn’t because of his restrictions. I grieved because of the loneliness and the struggles this path has led to. I grieved watching other Hurler families go through transplant and come out following a more “normalized” path then we are on. I knew I had a lot to be grateful for but yet I still grieved.

We are currently 1,150 days post transplant (over three years). We still count the days because we have not yet recovered from transplant. We have had some big and small set backs and backward steps on this journey. I have had days, as recently as last week, where I cry and grieve the things we still cannot do and the memories I still cannot make with my son. Don’t get me wrong I am so very grateful to have my son here and to have him doing as well as he is but my path, our path is so different then what we were told or what we expected. It is so different from the path’s of our friends in the MPS world. I know that we are on this path for a reason and I know ultimately it will be the right path for us but that does not mean it is not hard and that I do not grieve or wish we had some things easier. I still hold out hope for the next milestone or next new med to work like promised. I need that hope. It feeds me the way the grief empties me. I realize that sometimes hope leads to disappointment but it is in hoping that I keep moving forward.

Rare diseases are not for the weak of heart. I know my heart has broken and been shattered a hundred times during this three year journey. I also know that hope for the better and the love of my son have put my shattered heart back together over and over again.