Hannah at 8 months old
I’ve been feeling a bit down since the meeting with the pulmonologist last week. It was not just that incident, but it was the straw that is starting to break my back. Just a reality check upon reality check upon reality check.
Hannah’s disease is progressing.
She has developed ‘acquired nystagmus’ (horizontal involuntary eye shaking) in her left eye. Listed as a symptom of neuronopathic Gaucher disease. It is very unusual that it is just in one eye, but Hannah never does things by the book. What concerns me is that from what I have read about nystagmus, it could also cause vision problems. Until this, Hannah’s vision acuity had always been good. It was her ocular motor apraxia and supranuclear gaze palsy (abnormal eye movements) that were such a problem for her.
Hannah aspirated on chocolate pudding tonight, just a little bit. We had been working on meltable foods for the past few weeks, and she has been loving it. Opening her mouth big and wide for us to put a spoon in, so excited when she gets new tastes like stage 2 fruits and veggies, cotton candy, puff cheetos, ice cream, etc. Tonight, when she was eating pudding, she was laughing and getting really excited eating, taking a huge bite, and she had a big cough soon after. Next thing I see is a tinge of chocolate-covered secretions coming through her trach and HME. I was crushed. It was not a huge amount, and obviously she was able to cough it out because when I suctioned her, there was no more to come out. Lesson to me: Stick with very small bites when feeding by spoon, I guess.
Then, there is Hannah’s developmental delays. She is still in a 9- to 12-month-old’s brain and has been for a year now with so very little change. I am so thankful she does not know any better because she is just happy all the time playing with the same toys she has been playing with for almost a year. Even with therapies, there is so little that we have moved forward on. Hannah’s OT suggested we let her help take her shoes off, and when I heard that, all I could think of was that she does not even try to get to her shoes or even know that they are on.
At dinner tonight, Daddy and Abigail were having dinner together (since Hannah can’t sit at the table just yet, I had to be with her in the other room). Daddy told me that they were talking about something, and Abby made the comment that she was so glad that Hannah didn’t die while she was hospitalized. Daddy asked me later that night if I had ever said anything to Abby, and my answer was “hell no!” We never told Ethan and Abigail how serious Hannah’s hospitalization truly was … we always said that she got “really sick,” but that was the extent of it. So where did Abigail get this idea in her head? Did she hear it from someone else? Or, and this is more likely, is she just more intuitive than we thought at 6 years old? We never even told her that Hannah’s disease was life-limiting, but obviously it is something that she has thought about.
And then there is Addy and Olivia (Hannah’s soul sister), two beautiful girls who are both diagnosed with type 2. Addy is going to be 2, and Olivia is just a few months younger. I have known these girls and their moms for the past year, and I have grown quite attached to them. Each time I hear that they are going to the hospital, my heart breaks, and it is all I can do to wait for another update from their mom just to know that they are stable so I can breathe. Especially little Olivia, who looks just Hannah (which is why we call them soul sisters)… I just want them to be okay. They deserve to be okay!
Lastly, all of the appointments, the therapies. I found a new pulmonologist who we are meeting next week, and we meet with Hannah’s new ENT this week. Plus her Cerezyme treatments (of which this latest dose is going to be 5 days late because of Genzyme’s 2-per-month rule).
I hate this frickin’ disease. I know having a pity party breakdown right now is not going to change anything. I know I need to focus on the positives and trying to make more positive changes. But right now, I am just feeling incredibly defeated by so many things in our lives — this disease, our financial situation (Daddy’s unemployment and our TX house still on the market), my lack of taking care of myself (I know, my fault), and just trying to find some sense of normalcy in our lives.
I just have to keep focusing on Hannah’s smiles. That is what keeps me going every day.
Hannah at 8 months old
I’ve been feeling a bit down since the meeting with the pulmonologist last week. It was not just that incident, but it was the straw that is starting to break my back. Just a reality check upon reality check upon reality check.
Hannah’s disease is progressing.
She has developed ‘acquired nystagmus’ (horizontal involuntary eye shaking) in her left eye. Listed as a symptom of neuronopathic Gaucher disease. It is very unusual that it is just in one eye, but Hannah never does things by the book. What concerns me is that from what I have read about nystagmus, it could also cause vision problems. Until this, Hannah’s vision acuity had always been good. It was her ocular motor apraxia and supranuclear gaze palsy (abnormal eye movements) that were such a problem for her.
Hannah aspirated on chocolate pudding tonight, just a little bit. We had been working on meltable foods for the past few weeks, and she has been loving it. Opening her mouth big and wide for us to put a spoon in, so excited when she gets new tastes like stage 2 fruits and veggies, cotton candy, puff cheetos, ice cream, etc. Tonight, when she was eating pudding, she was laughing and getting really excited eating, taking a huge bite, and she had a big cough soon after. Next thing I see is a tinge of chocolate-covered secretions coming through her trach and HME. I was crushed. It was not a huge amount, and obviously she was able to cough it out because when I suctioned her, there was no more to come out. Lesson to me: Stick with very small bites when feeding by spoon, I guess.
Then, there is Hannah’s developmental delays. She is still in a 9- to 12-month-old’s brain and has been for a year now with so very little change. I am so thankful she does not know any better because she is just happy all the time playing with the same toys she has been playing with for almost a year. Even with therapies, there is so little that we have moved forward on. Hannah’s OT suggested we let her help take her shoes off, and when I heard that, all I could think of was that she does not even try to get to her shoes or even know that they are on.
At dinner tonight, Daddy and Abigail were having dinner together (since Hannah can’t sit at the table just yet, I had to be with her in the other room). Daddy told me that they were talking about something, and Abby made the comment that she was so glad that Hannah didn’t die while she was hospitalized. Daddy asked me later that night if I had ever said anything to Abby, and my answer was “hell no!” We never told Ethan and Abigail how serious Hannah’s hospitalization truly was … we always said that she got “really sick,” but that was the extent of it. So where did Abigail get this idea in her head? Did she hear it from someone else? Or, and this is more likely, is she just more intuitive than we thought at 6 years old? We never even told her that Hannah’s disease was life-limiting, but obviously it is something that she has thought about.
And then there is Addy and Olivia (Hannah’s soul sister), two beautiful girls who are both diagnosed with type 2. Addy is going to be 2, and Olivia is just a few months younger. I have known these girls and their moms for the past year, and I have grown quite attached to them. Each time I hear that they are going to the hospital, my heart breaks, and it is all I can do to wait for another update from their mom just to know that they are stable so I can breathe. Especially little Olivia, who looks just Hannah (which is why we call them soul sisters)… I just want them to be okay. They deserve to be okay!
Lastly, all of the appointments, the therapies. I found a new pulmonologist who we are meeting next week, and we meet with Hannah’s new ENT this week. Plus her Cerezyme treatments (of which this latest dose is going to be 5 days late because of Genzyme’s 2-per-month rule).
I hate this frickin’ disease. I know having a pity party breakdown right now is not going to change anything. I know I need to focus on the positives and trying to make more positive changes. But right now, I am just feeling incredibly defeated by so many things in our lives — this disease, our financial situation (Daddy’s unemployment and our TX house still on the market), my lack of taking care of myself (I know, my fault), and just trying to find some sense of normalcy in our lives.
I just have to keep focusing on Hannah’s smiles. That is what keeps me going every day.