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Praying hard for our Christmas wish!

Who would've thought we'd have more issues with starting Enzyme Replacement Therapy after I sent an infuriated email to the CEO of Children's Hospital a few weeks ago and rekindled a fire under everyone's feet?

Me. I thought so. It's just par for the course. But my growing distrust and impatience for some of these people is serving me well because instead of finding out a task wasn't completed way too far down the road, I've just been assuming no one will do anything unless I sternly check-in with them multiple times a day. (I've always been correct in assuming that, by the way.)

I've been asked a lot why I don't switch doctors. I have. Incredibly, this is our 4th geneticist. The first one (the one who gave the initial diagnosis) refused to try and start ERT for Damian because he thought Damian was a lost cause (can you believe that???), the second one joined the "California Exodus" this summer (he moved), the 3rd one was apparently overwhelmed by the experimental nature of Damian's care and even suggested we may have to pay him a salary and then something happened (I don't know what) and I was just told that he was no longer our geneticist and we were given a new one.

So here we are. The shift to a new doctor is always a hassle and just makes the process of starting ERT take even longer. Honestly, it almost doesn't even matter who the doctor is, because the pharmaceutical company who owns the drug knows more about the drug than the doctor will anyway. The doctor (or rather, whoever is the one actually administering the drug, usually a nurse) just follows the instructions on the box. All I need from a geneticist at this point is to sign papers and send emails and referrals in a reasonable timeframe (but apparently that is asking a lot!). My incredible dissatisfaction with the genetics department has made me all the more grateful for Damian's gastroenterologist (liver/spleen/digestive system doctor) who has become Damian's best advocate so far on his medical team.

Why? Because she asks questions and she listens to understand. She asks for my opinions on her recommendations and we make plans together. She does what she says she is going to do. There is no doubt she appreciates Damian's unique circumstances and puts time into figuring out what would be best for him specifically, and so I trust her.

Damian cannot go another 6 months like this

At our most recent gastroenterology (or "GI") check-up, Damian's doctor expressed a lot of concern for Damian's weight and mass loss. Damian had just gotten over RSV and had had a couple colds back to back as well, so I am confident a lot of the weight loss over the 2 months of being sick was due to that.

At our GI appointments, the doctor measures around Damian's upper right arm to track his nutritional health (since Damian's growing liver affects his weight, his overall weight is not a reliable metric for nutrition intake). Since the previous appointment (where he measured at 15 cm), he had lost 2 cm. "He can't go another 6 months like this," the doctor told me.

We had thought Damian would have started ERT by this time, which is why we canceled his feeding tube surgery that was scheduled for July. But almost 6 months later, I still wasn't sure how long it would take to start. We'd just been burned so many times when the process of starting really shouldn't take that long. Even if he started ERT today, it's a slow dose-escalation process, and I doubt we'd see major improvement for several months.

So Damian's doctor is insisting a feeding tube would really benefit Damian... and we are now in the process of seeing when one can be scheduled. At the end of the day, malnutrition will always hurt the body and proper nutrition will only help. As heartbreaking and honestly infuriating it is that we are in this preventable situation, we have to give Damian his best chance.

The GI doctor sent an email to the geneticist and told her how urgent the need is for Damian to get started on ERT (if it's going to do what it is anticipated on doing) and that we'll be planning on a surgery to place a feeding tube within the next 3 months or so.


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The ERT Update

In my last ERT drama update, I had said that the geneticist had reached out to the pharmaceutical company who owns the "Brain 1.0" drug Damian is currently on in order to get their permission to start ERT. They had a call and gave their permission on November 1st.

I have all but literally had to push and pull every person to make a move since then:

  • Nov 4 - After days of trying to make contact, the geneticist finally told me via email how the call on Nov 1st went. I responded and asked what the next step was, I was told it was just getting insurance lined up

  • Nov 7 - Spent the week ironing out everything that needed to be done in getting ERT payment secured, met with a rep from the ERT pharmaceutical company

  • Nov 10 - I was told by the genetics department that some minor internal approvals need to be done, but "should not take long"

  • Nov 16 - I was told by the genetics department that they now have to write a new treatment plan and send it to the FDA for approval and that it will be at least a month before we can start... cue angry mama bear. I immediately started hounding everyone for information on this and when it was confirmed that an amendment to our FDA contract did have to be sent in, I started hammering for it to be sent in immediately

  • Nov 17 - The genetics team said the ball was in the Clinical Research team's court. I followed up with the Clinical Research team. They made it clear that they had not received enough info from the geneticist to write an amendment and that I really shouldn't expect to start ERT for awhile because the FDA doesn't expedite reviews, "they just don't." I had a call with the Clinical Research director and got exactly the information she said she would need in an email. I went back to genetics and wrote an email with that information and told the doctor to copy and paste the message and send it to Clinical Research immediately.

  • Nov 18 (Friday) - No response after multiple tries to contact the doctor. So I wrote the CEO. A couple hours later, the doctor told me she had copy-pasted my email and sent it to Clinical Research, as I'd requested.

  • Nov 21 (Monday) - Clinical research tells me now that they have written the amendment, they have to send it back to the "Brain 1.0" pharmaceutical company for approval, which they do.

  • Nov 23 - The pharmaceutical company asks to make a small adjustment. The revision is sent to them for approval again.

  • Thanksgiving break means no progress

  • Nov 29 - The pharmaceutical company approves the amendment and I'm told that Clinical Research submitted it to the FDA.

  • Nov 30 - I email the FDA and ask them to please expedite the review so we don't have to wait a month to start. They wrote me back hours later saying they'll do what they can, but they hadn't received anything yet for Damian. I contact Clinical Research and ask them what's going on. They ignore my emails and calls.

  • Dec 1 (evening) - Clinical Research tells me that they just sent it now to the FDA.

  • Dec 2 - I follow up with the FDA and ask them to keep an eye out for it.

  • Dec 7 - I check back in, the FDA advises me to talk to Damian's doctor. I go to Clinical Research and they confirm they received an approval from the FDA and have plans to review it in the weekly IRB review meeting on Dec 14th.

  • Dec 15 - I ask Clinical Research to give me the update on the IRB review and they said to contact the geneticist for the results. I try all day to get in contact with her.

  • Dec 16 - I finally get word from the doctor that she has not received any results yet. I immediately go back to Clinical Research, who says they sent her the results the morning before. I go back to genetics and have difficulty getting back in contact with the doctor. I eventually get an email from her confirming that we got the IRB approval. The next task is to just get the Infusion Center appointment all set up.

Meanwhile, the pharmaceutical company that owns the ERT drug had called me independently to find out what was going on, because they also had been trying to get in contact with the doctor and couldn't get a hold of her. However, they took initiative and went to their contact at the hospital pharmacy, who decided to just place an order for the drug before getting an order from the doctor (since shipping schedule delays and holiday vacations were already starting to pop up). THANK GOODNESS for the both of them, because they were able to get the drug shipped and I confirmed in a call on my own to the hospital pharmacy that the drug is safe and secure in a fridge, ready to be picked up by an infusion center nurse. If they had waited for a message from the doctor before ordering, it would've likely meant shipping the drug after Christmas.

If all that was too long to read, here's the end result:

The ERT drug is at the hospital. We already had an afternoon appointment for a basic blood draw at the Infusion Center on December 23rd and we've turned it into an early morning appointment for Damian's first ever infusion for Enzyme Replacement Therapy. We could be starting this before Christmas, just what they said was impossible.

You may remember this is not our first time thinking we are going to go and get Damian's first infusion. Last time, Damian had his chest numbed and shirt off, on the bed, I had my phone camera recording the momentous occasion and everything when the nurse came in and told us that our medical team had, once again, dropped the ball.

So even though, now, I have been told and retold and retold that everything is squared away and ready, forgive me for not celebrating until it has actually happened for real. "Fool me once..." as they say.

Instead, we are praying really really hard that we'll get our big Christmas wish on Friday at 8am, like they've promised. Stay tuned.


With all the drama this medical life has brought us, nights like this are SO incredibly sweet to our family! I hope this video brings some festive joy to you too!

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