Rare Disease Day!

Today is Rare Disease Day! I only just realized Rare Disease Day is planned for the last day of February because leap year only occurs ever four years... hence, 'rare'... duh Megan! Next year it will fall on February 28th because, you know, we still have to remember the rare diseases no matter what year it is!

When I go to the hospital with JoJo we usually run into another mom/dad and their special needs child. What surprises me is I keep seeing new faces. We go to the hospital often so I would think that I would see at least one familiar face! Unfortunately, I am coming to find there are so many children who suffer from some sort of disease. Some more common than others but a disease none the less. My eyes are opened up to a very large and hidden world. I would see children in wheelchairs, hooked up to ventilators or feeding tubes and I would just think "oh thats sad" or "poor kid" and that was the end of my thought process. But there is so much more to these kids stories. Don't judge a book by its cover comes to mind. My judgement would be short and just accept the child or individual is sick and that was that, end of story. Now, JoJo is one of those kids and I am one of those moms and we are one of those families. Those who are afflicted aren't just sitting in a wheelchair, there is so much more to their story. These families are going to appointments, doing daily physical therapy, managing alternative feeding systems, reading the latest medical study (looking up every other word on google to comprehend the material), and hoping/praying/wishing for a breakthrough day and night. These rare diseases are life consuming and there is no set journey, no Yellow Brick Road. Every case is different. These families are bravely putting one foot in front of the other not really knowing where they are going. The extent of JoJos future medical needs is unknown to us. We have a good idea of what to expect based off of other children with Pompe but still no definite answers. Thats what you get with 'rare'. With the National Organization for Rare Disorders they are working to light the way for these families and to try to help give us direction. If anyone is interested, you can make a small donation to the National Organization for Rare Disorders. There is a orange button located in the top right of the page! Thank you for your consideration.

Now, lets get to whats up with JoJo!

ERT #5

Josephine is doing great. Well, currently we are still battling a cold and she has had a nasty cough for about two weeks now. Just normal baby kid problems but still scary for any parent. No serious fevers and she is still breathing well so any extra medical interventions are not necessary at this time. We will be sure to double check she is all squared away to receive her ERT this coming week. As long as she doesn't have a fever we can juice her up!

This past week we had a physical therapy appointment where JoJo was assessed to see what type of progress we have made since starting ERT. She was originally assessed at seven months and scored in the 0-2 months range. Now, at ten months she can sit up by herself for minutes at a time. We don't really have a age range because she still can't do baby push ups which lead to crawling. So, really, she is pretty immobile but now that she can sit up which will help her start working on core muscles and other skills which will help her progress. When she gets her food through the tube she sits up on the couch and plays with her toys and watches Daniel Tiger. She loves to rock back and forth dancing to the into song. The kid has some serious dance moves despite suffering from moderate Hypotonia... Take that Pompe!!

lounging after physical therapy

Other than our previous visit for physical therapy and her cough we have been plain boring. In my book boring is best!! Thank you for following along and thank you for the random notes and little gifts for Josephine. These kind gestures truly warm our hearts and fuel us to keep on plugging along.

Love,
Segura Family

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