The fight continues and we will WIN.

5 years of data

 

Mommy and me riding out the storm

 It's been a whirlwind of a month in my families fight with rare disease. Dr Saal (Tommy's Genetics Dr and researcher from Cincinnati Children's) could only see me the week before school gets out. So I had to leave for three days to get the following done: His yearly evaluation by genetics, the sleep study,  feeding team appointment, along with xray's,  and blood work. ONE week before school got out.  I am a mom of 6th grader, 4th grader, and our sweet Tommy who has Russell Silver Syndrome MAT UPD7.   All three kids have needs and the timing was not so great. It's a super pressed time of the year for our family, but it had to get done, so off I went.  But in the going I got jazzed up again with CLARITY of understanding the complexity of handling his care and advocacy.  PASSION to not take no for an answer and not accept the delays.

I got to fly de plane

My BFF George always does it first

* The sleep study showed no hick-up.  We hear him stop breathing at night, gasping for breath.  Another mom and fighter for rare disease- with loads of experience has heard him and is sure he needs oxygen. We'll guess what during the sleep study,  he is fed oxygen thru his nose and he does not hick up. DUURRRR. Jacksonville just give my kid a machine. This is our next battle.... I am taking on this week. I may get my friend who's gloves are bigger then my experience to help me out. SOMETIMES we need each other.
* His height had less then 1 inch of growth in the last year.  Go figure...  His GHT has only been injected a month now.  No surprises here. His weight is one big concern also. Only 1 pound in a year. Hopefully-prayerfully, The combination of GHT and aggressive family support at making him eat will change this. Oh and the threat of a mic button if he will not eat.
* Our visit with the feeding team, left my head spinning. MAKE him eat. I had just gotten tired of the fight, and stopped pushing. The great team there jazzed me to come back and win.
* The blood test revealed we need to start monitoring his blood sugars. He fatigues easily and is cranky also. Waiting for the monitor to test blood sugars. This will come any day. He also is dropping ketones regularly. All new levels of managing and monitoring. Lastly, he has cardinal signs of ADHD. This explains the rough morning's for the last six months.
* This week we have a MRI of spine to see how serious the damage to his neck is from the years of trying to hold up that head with such a small body. I am really believing that there is no surgery necessary. Thankfully that rocking local anesthesia. Dr. with RSS experience will be with my boy again cautiously putting him out for the MRI.

Not liking these wires mommy

Let me show you how- says Tommy

Rare disease is ongoing. Initially we had the mis-diagnosis and the injustice of went with this. Had it been handled the right way I would not have had 39 appointments since January. Two of them being out of city. It's exhausting to see how SOME would give up in one way or another. Become laden with grief or loss. I probably have moments of those but they are VERY temporary. Usually opening up his word or getting someone who gets it to pray with me pulls me out quickly from staying somewhere I don't need to be.
YES, I get tired from this race some days, but then a day will surprise me and I will find "my fight" again and get back in the game. It's true that most the time Tommy's rare disease is treatable. My hope and prayer is that the mistakes that occurred will be "restored" back quickly to my son. That the loss of time for him, myself and my family will be redeemed. He is a delight, amazing, captivating in some ways. But what you don't see in his precious self is the time, effort, family dynamic that are evolving daily. Beth over heard me cancelling the trip to Chicago due to financial set- backs, to be with the other Magic families. Convention is a four day gathering of RSS families go to get information and support for the kids and meet others on the journey. She offered to give us her money she was earning house sitting to help us get there mid July. In tears she asked " When will it get easier for us Mommy" Yes- rare disease effects the whole family, emotionally, financially, and physically. We are grateful for having God at the center of our storm when it is windy. always reminded that yes, he calms the storm and settles the waves and helps us to win the daily battles.

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