I have been emailing with a few families over the past couple of weeks who have children that have been newly diagnosed with neuronopathic Gaucher’s disease.
One mom asked me if she should “hold out for hope for a treatment to save” her child diagnosed with type 2. Another dad I emailed with described one of the top experts he had seen as a supposed “savior” for his child when that person said there was really nothing that could be done.
As I watch Hannah’s condition deteriorate over the past few months, I am losing the idea of hope. I am very realistic to know that it is very unlikely that there will be a treatment found to save Hannah. As much as I wish I could change that, reality is that there is so little money going into neuronopathic Gaucher research and so few researchers working on this form of Gaucher’s.
What can I say? How do I try to provide support for a family grasping for hope when I am watching this disease take away my daughter’s mobility, agility, and ability to do even the most basic of infant skills? I don’t want to take away what hope any family may have but I also feel that families need to be realistic with the diagnosis, especially those with type 2.
This is a cruel disease. We have to squeeze quality time out every moment that it becomes available because each month that passes we realize that this disease is taking more and more control over Hannah. She is losing her ability to have fun, to play with her favorite toys, and even to interact with her iPad on special apps (thank goodness she can still watch her Wiggles).
I will not give up on trying to find something, anything to help Hannah and the other nGD kids. But with the very real possibility that Hannah is going to need supplemental oxygen in the very near future, I honestly feel like we are losing this battle and are heading into even more complicated territory.
I find my heart breaking more and more these days.
We’re in the same boat, but perhaps a different deck as you. With Marissa’s infantile spasms and the associated seizures, at least for now, we’ve got a kid frozen in time. At three and a half years old, she’s still stuck at 3 months development.
There’s nothing wrong with hope, especially if there’s nothing else left.
In the poem “Hope” (“Hope is the thing with feathers…”), probably since she suffered from intractable epilepsy & knew all about hope, Emily Dickinson doesn’t say anything about the little bird (hope) affecting the storm in anyway, but she does accurately say that hope “kept so many warm”. 🙂
Maybe hope isn’t realistic, but if that’s what enables people to live in the present–enjoying and loving their child without the encumbrance of grief–then hope is what they need.
Love, C
PS – Hope is my Snuggie. 😉
That’s a very tough issue. Hannah is about the same age V was when I gave up hope that a cure would be found that could help her. I really did give up hope and faith that anything would go right for V or for my family. And oddly, I found that incredibly comforting and freeing. It released me from feeling like I was not doing enough, from constantly being crushed by the newest problem, from meeting expectations and it gave me permission to be happy with what we had. Every morning I peak my head in Victoria’s room and I am genuinely happy to find her there and telling me “Had good night’s sleep.” So many parents just assume their kids will get up in the morning. I never do. I don’t have hope or expectations of good things anymore but somehow, I think I am actually more happy and enjoy my life and family more this way. I think its a feeling you grow into as a special needs parent but parents of newly diagnosed special needs kids (especially terminal ones) need to hear that there is research going on, that there have been strides made that their child will have the benefit for from day one, that early diagnosis make a huge difference anything to get them through the first dark months of diagnosis so that they can come out on the other side emotionally intact and ready to fight for their child.