Four Down Forever to Go

**Disclaimer: I am simply a mother who has Googled and put information into my own words. Any information provided below should be confirmed by a medical professional.**

sitting pretty

JoJo has had four Enzyme Replacement Therapies (ERT) so far and they have brought this baby back to life. Slowly but surely she is gaining strength and is able to show more of her joyful personality. I titled this post specifically to address the importance of her ERT.

I am frequently asked how long she has to receive treatment. I wish I could say that all she needs is a vaccination every six months or only needs to take a little pill every morning. Unfortunately this treatment is far more complex. Let me put it simply, Josephine would die sooner than later without ERT.  Patients with Pompe Disease have deficient or absent acid alpha-glucosidase (GAA) activity.  ERT provides an external source of GAA, a lysosomal enzyme. Here is a link to the Pompe Community. I have found it very helpful.

So, every two weeks we go to the hospital to do a transfusion. Typically this is an all day ordeal...

0800 Check into the Hospital and order the medication to be prepared
0845 Do initial vitals, check the body for preexisting rashes(IF the child is sick or is fighting an infection with a high fever you cannot continue with the treatment and will have to postpone--the reason for this is that the immune system may mistake the synthetic enzymes for the cause of the fever/sickness and begin to fight it off, kill it, and lead to ineffective treatments from that point forward, which I'll discuss further later on in this post)
0900 Start infusion
0930 Vitals, check for rash
1000 Vitals, check for rash
1030 Vitals, check for rash
1100 Vitals, check for rash
1200 Vitals, check for rash
1300 Vitals, check for rash
1400 Finish transfusion, vitals, check for rash 1420 Start observation period (which is basically continuing to monitor for negative reactions to the infusion)

1720 Final set of vitals and checking the body for a rash
1730 Head Home!!

When Josephine is hooked up to her transfusion she just goes about her business. We watch Daniel Tiger, play with our rings, cups, Sophie (the teething giraffe), and read books.  JoJo adores books. She flaps her little arms and makes a scrunchy face when I pull her books out. She loves to turn the pages and look at all of the pictures. After we are done with being hooked up to the IV we take a little walk and look at all of the fun things a hospital has to offer.  If anyone is running out of ideas to entertain their child just grab a ton of medical supplies.  Entertainment for hours guaranteed. We recently learned a cool trick from another Pompe friend, "J" who likes to play with blown up balloon gloves. 

Notice we do vitals and check for rashes OFTEN. The body can develop a allergic reaction to treatment at any given time. Usually there is a rash that shows up and there is a chance for the body to go into anaphylactic shock. I don't know about the other seasoned Pompe moms but I feel like I hold my breath the whole day and pray the day is extremely uneventful. One giant snooze fest and I am a happy mom.

Sometimes, children's immune systems immediately start to fight off the synthetic enzyme given during their treatments. Their bodies battle the enzyme with antibodies like it would any other foreign infection trying to harm the body. Generally doctors can predetermine if their body will react well by testing whether or not they are CRIM positive or CRIM negative. CRIM, Cross Reactive Immunologic Material, is a fancy acronym which tries to predict how a child will react to the introduction of a foreign substance. CRIM positive shows they have better chances of reacting well to treatment. CRIM negative shows that their body is more likely to create a antibody to fend off the foreign substance. In cases of CRIM negative patients, the next conversation is whether or not to start the child on a series of drugs that will reduce the body's immunologic response and essentially keep if from making/making as many antibodies. Weakening the immune systems obviously presents a series of risks, but by not taking the step to allow for ERT to take place presents a much worse certainty.  

Fortunately JoJo was CRIM positive, and the first four rounds of ERT have shown that she is taking well to the drug and it has positively effected her body. However, there is always a chance that the body will slowly reject the drug and eventually create antibodies to fight the synthetic enzyme and effectually reclassify a patient to a CRIM negative. The doctors have done an antibody check to get a baseline for JoJo, and will do another soon to see if there is any increased antibody activity that may cause us to begin taking further preventative measures. 

Overall, we have been blessed so far by doctors quickly diagnosing Jo, her being CRIM positive, central line surgery going flawlessly, not being allergic to the drug, and many other small miracles that keep her happy and pain free. More prayers, wishes, good juju is always appreciated. 

Thank you for your endless love and support,
Segura Family

KC Photography by Kyra Cummings