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