I've been feeling a little bit emotional and tired lately. I believe my subconscious has been ruminating on what was happening at this point last year--and the time in between. (That would exhaust anyone.) On one hand, we've come so far and ruled out so much. On the other hand, we still have no diagnosis and a long uphill slog still ahead.
Bertrand's continued disuse of his right arm and hand is starting to weigh on my soul a bit--what if permanently loses that skill too, like so many others before it? Then there are glimmers of hope, like Bertrand's new tears (right eye only) which started the day after increasing his ketogenic diet to a 4:1 ratio. We still have many avenues of treatment and research ahead of us, and we will keep fighting for every inch, every day for our son.
Bad news
Bertrand's oligosaccharide screen and then test came back positive, indicating a glycoprotein storage disease. Glycoprotein storage disease, or more generally, lysosomal storage disease, is actually a family of inherited (double recessive), genetic diseases. Any child Cristina and I have would have a 25% chance of acquiring this disease. We don't know which one he has yet, but the differences between them matter more to biochemists than to patients: all are progressive, largely untreatable, incurable and fatal.
In short, every cell in Bertrand's body (all 25 trillion or so) has a defective metabolism. As his cells metabolize, they are failing to fully recycle molecular waste, due to a missing enzyme. In this case, it's some kind of yet-to-be-determined sugar that he's not recycling. Over time, this waste accumulates in the cells and destroys them.
We don't know how long he has, but some searching indicates he may live to three years or just beyond. We'll know more once we complete the next round of tests, and once we finish consulting with the rest of his physicians. We are holding on to what little hope is left, but it seems that the window for miracles is about to close.
Of course, we will do everything possible for him. And, if that fails, we'll try the impossible.
The past few hours have tested my optimism. I can't even put into words what it feels like to hear that it's likely your child's life is more than half over--at only 14 months old.
I am in a dream that has morphed into a nightmare. I was given a beautiful, adorable baby boy--even when he was still inside of me I loved him more than I thought it was possible to love anything. And now, I have to watch him suffer and die? I can't believe it is true, yet. I won't.
"Ultra-orphan disease" is a four-letter word in my book. But... I am not going to dwell on it.
I am working toward clearing (or obliterating) my schedule. I had been trying to get out, work, make new friends, but screw new friends. I don't need them. Bertrand's my BFF. We'll be hanging out doing cool stuff together every day. :) Anyone who wants to tag along is welcome.
We're putting a baby bucket list together which B and I will attack. (I am taking suggestions for the list so please email me some!) Bertrand is going to have the best next ~21 months that any baby has ever had! He'll have more books, trips to the farm & zoo, horseback riding, maybe even some sailing! ;)
By the way, I don't care how well meaning, please don't mention us having another child. Not amnio, not adoption, not genetic counseling, not anything. Please don't mention it around me because I am not responsible for what I may do. I don't want another child. I want Bertrand. End of story. So, let's just not go there now. Thanks.
But, speaking of counseling, Matthew and I are going to start seeing a counselor two weeks from now. Counseling comes highly recommended from other parents of special needs children. Now, it seems like we may be facing both the needs of a special child AND his loss. We'll need all the help we can get.
Even expecting all this, we feel so lucky--so happy--to have Bertrand in our lives. We love him.
In short, every cell in Bertrand's body (all 25 trillion or so) has a defective metabolism. As his cells metabolize, they are failing to fully recycle molecular waste, due to a missing enzyme. In this case, it's some kind of yet-to-be-determined sugar that he's not recycling. Over time, this waste accumulates in the cells and destroys them.
We don't know how long he has, but some searching indicates he may live to three years or just beyond. We'll know more once we complete the next round of tests, and once we finish consulting with the rest of his physicians. We are holding on to what little hope is left, but it seems that the window for miracles is about to close.
Of course, we will do everything possible for him. And, if that fails, we'll try the impossible.
A Mother's Take
I am in a dream that has morphed into a nightmare. I was given a beautiful, adorable baby boy--even when he was still inside of me I loved him more than I thought it was possible to love anything. And now, I have to watch him suffer and die? I can't believe it is true, yet. I won't.
"Ultra-orphan disease" is a four-letter word in my book. But... I am not going to dwell on it.
I am working toward clearing (or obliterating) my schedule. I had been trying to get out, work, make new friends, but screw new friends. I don't need them. Bertrand's my BFF. We'll be hanging out doing cool stuff together every day. :) Anyone who wants to tag along is welcome.
We're putting a baby bucket list together which B and I will attack. (I am taking suggestions for the list so please email me some!) Bertrand is going to have the best next ~21 months that any baby has ever had! He'll have more books, trips to the farm & zoo, horseback riding, maybe even some sailing! ;)
By the way, I don't care how well meaning, please don't mention us having another child. Not amnio, not adoption, not genetic counseling, not anything. Please don't mention it around me because I am not responsible for what I may do. I don't want another child. I want Bertrand. End of story. So, let's just not go there now. Thanks.
But, speaking of counseling, Matthew and I are going to start seeing a counselor two weeks from now. Counseling comes highly recommended from other parents of special needs children. Now, it seems like we may be facing both the needs of a special child AND his loss. We'll need all the help we can get.
Even expecting all this, we feel so lucky--so happy--to have Bertrand in our lives. We love him.
my heart goes out to your sweet family. you guys are AMAZING parents and I look up to you guys.
ReplyDeletefor your bucket list...I thought of the Aquarium in Sandy. It's one of the only places Cole is interested in. I bet he would like it :)
I couldn't reread these. Once was hard enough. And what does that say about you living through them?
ReplyDeleteHere's to an intolerable year behind us and all kinds of potential to come.
What a horrible month that sounds like - I'm unspeakably glad that the prognosis has gotten better since then. I can't even imagine.
ReplyDeleteAnd since Bertrand thankfully has a much, much longer time to get through that bucket list, I'll reiterate my suggestion of the national parks, if it's at all possible with the keto diet!