A lot has taken place since our last entry so I better get started. We spent nearly 2 months recovering from Nick's surgery back in April. Aside from a few minor hiccups, Nick managed to stay strong & heal fairly quickly given his medical condition & a few pulls of the new tube which sent us to the ER a few times. In June, I traveled to Scottsdale AZ to attend a UMDF sponsored seminar that hosted a series of vendors, geneticists, researchers & doctors who are trained solely in Mitochondrial & Genetics medicine. I was lucky enough to have the support of my brother, who also attended with me. I'm happy to have attended but was hoping to gain a lot more information from this event. For the most part, the information being shared was 'introductory" which shows that WE are as educated as the professionals who are studying Mitochondrial Disorders & the 40+ diseases associated to. Sad part, is that there is nothing new to share from a medical perspective. They spoke openly about needing more active participation in clinical research trials & we would strongly consider taking part in some when it pertains to Nick's specific condition. Right now, the trials are more focused on Co-Q10 studies & MELAS (a disease associated to Mito). I was amazed at how many adults who are afflicted with a Mito Disorder, that were in attendance. The few parents that we were lucky enough to meet are still struggling through their diagnosis phase, some as long as 2+years. It made me stop to realize how fortunate we are to at least 'know' what we are up against. My heart just pours out to those parents who are walking this long journey to a diagnosis.
In talking with everyone, it continues to surprise me how little is actually known about these disorders, both from a professional & overall awareness. Which is why I'm considering organizing a Charity Walk-A-Thon in our area. I have already spoken to a UMDF coordinator & have the tools to get started. It's roughly an 8-9 month planning process. As much as I know that I'm in waaaaayyy over my head with all that we have going on, I also understand the critical urgency to bring National Attention & a name to so many hundreds of thousands who suffer.
After a long series of conversations, Nick & I decided that we wanted to give stem cells another try so in July we decided to head down for another round. Nick did such a wonderful job traveling 11 hrs to & from (not counting delays) & was a total rock star when having the procedure done. We were able to meet so many wonderful people on this trip who share in our struggles as parents with atypical children who have no hope/cure for their specific medical condition. We are hopeful that this can help our son & provide him with a better quality of life & after meeting with some of the kids, it gave us a renewed hope that miracles continue to happen every single day. Connor(7), Luca (5), Wyatt (4) & Hannah (8) are amazingly beautiful spirits with infectious smiles that we had the honor of meeting. When we first started researching alternative treatments, we read about both Hannah & Luca's successes with stem cell treatments. Hannah suffers from Lenox Gasteau (sp), which essentially welcomed well over 100 different seizures daily & left her in a near vegetative state. She has gone for 4 treatments & is a testament of how stem cells can help. Hannah has full mobility now, walks/talks/acts like a typical girl & only experiences a handful of seizures now a month. She has also gone from 10 different seizure meds to 2 (and at much lower doses). Prior to his treatment, we received word from our Neuro Doc that Nick's seizure activity was maintained but that he still has the tendency to have seizures (given his condition). Nick & I had talked about lowering his medications to see if we can possibly lower/remove some meds completely. In doing so, we strongly believe we will see more of our son come out after so I look forward to talking with Hannah's mom on her approach taken to lower Hannah's meds so that we may be able to walk a similar path. We've seen some small changes with Nick since the treatment, more animation, more coos/cahs, better eye control & focus.
On one last note, I'm happy to report that I'm taking time away from work to spend with Nicholas. I've completed the first 4 out of the 12 planned weeks I'll be off. It's crazy how quickly time passes. I have absolutely loved & cherished each breath with my son (: Every time I look at him, I'm reminded of how blessed I truly am to have such an amazing & loving angel by my side.
We thank all of you for your continued support, prayers & love. Because without each of you, we would be LOST!! With all of our love, The Torpey Family
