Family 2014

Family 2014

Family 2010

Family 2010

Sisters - 2010

Sisters - 2010

Thursday, September 18, 2014

An overdue update on Cali and Ryann and their Rare Mitochondrial Disease

I am FINALLY getting around to update everyone on our beautiful Cali and Ryann and their Rare Mitochondrial disease. I am sorry it has taken me so long but life with three kids, work and fun (of course) is a whirlwind and time flies by! My last update was 6 months ago when we held our First Annual Fundraiser, "Especially Beautiful Fashion Show". It was a huge success! We raised about $8,000 and I thought that was pretty good for our first event. With the money that our friends and family donated to UCI hospital we have began more research on the gene mutation (NUBPL) and the girls' disease. Now, 6 months later, we are starting the planning for our Second Annual Fundraiser, "A Special Day of Golf"! Yes, you guessed it - it is a golf tournament. I got to have my fashion show and now Rick gets to have his golf tournament. :-) All donations will go to UCI to continue our research to help our sweet girls and others with this disease. I will copy exactly what UCI has sent me to show you in their terms what the money we raise goes towards. Here it goes: Thank you for your interest and support of NUBPL Research at UC Irvine! Donations received from the golf tournament will benefit research being conducted by Dr. Virginia Kimonis on NUBPL Disease. Previous funds have allowed for initiation of preliminary studies including: * Expression Studies of the NUBPL gene in the brain, skin and muscle samples and blood cells (lymphoblasts) from the Spooner girls which will indicate the degree of deficiency in the NUBPL gene. Material has been made available to researchers interested in NUBPL—some in Europe have already been identified! These cells will be used to increase NUBPL by different methods, which may be used to help patients. * Development of Induced Pluripotent Stem cells (IPS) lines from skin samples, which will be converted into brain cells (neurons). These are very valuable to study the cause of challenges faced by Ryann and Calyn and also to help to develop effective treatments. Our goal is to raise enough funds to allow for the creation of a mouse model, a well-studied model that will allow researchers to see the impact of the mutations of the NUBPL gene on the brain and the effects of different treatments. New treatments are needed to improve walking, balance and cognitive skills for children like Ryann and Calyn. AS FAR AS WHAT WE HAVE BEEN UP TO: Ryann recently had a skin biopsy and Cali had already had tissue samples saved from a previous muscle biopsy. We were very lucky because our doctor was even able to locate the tissue sample from Cali's cerebellum biopsy she had done when she was only 1 year old! What a relief to know that an intrusive brain surgery didn't go to waste!! Cali and Ryann have also started seeing specialists to get baseline tests done on all of their organs. Mitochondrial disease is typically progressive and attacks the organs so our doc wants to make sure they monitor the girls very closely. They both saw a cardiologist and their hearts look great. They saw an ophthalmologist and their eyes look great and they are now seeing a new metabolic specialist and neurologist. We are getting used to doc appointments, that’s for sure! Today we met with a nutritionist at CHOC and our doc suggested we put the girls on a high protein diet. She thinks it may help with their disease. So, I kept a three day food diary (which wasn't easy) and now we can see how much more protein the girls need every day to qualify as "high protein". That's my update for now. Stay tuned for more to come! We will be here planning "A Special Day of Golf" and I am super excited to share our Second Annual event with all of you. XOXOXOXOXOXO

3 comments:

  1. sounds similar to what we are going through, heart doctor, eye doctor, nutritionist etc. You are doing amazing things for your girls with your fundraising efforts!

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