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Post date: Jan 31, 2016 5:16:33 PM
Well many people have asked me how Gloria is doing, and requested I update since the diagnosis journey. Here it goes. I will start after the CFC results came in. Well we were in a dark place and struggling. Gloria had oxygen, suction, tube feeds, and keeping her alive and safe were difficult to say the least. It is so hard to wrap those days into something that people can understand. Jen was working, and my mom and I were trading off nights caring for Glo and getting relief during the day from a rotation of nearby relatives...bless them. The system was not sustainable, and it creaked under the weight of my mom having to return to her house. That was the hardest part. I did nights and days for nearly a month. I got delirious, and trying to stay awake at night to manage her night feeds and be sure her vomits didn't cause her to choke and aspirate was a nightmare. My health began to tank. My blood pressure soared and I couldn't do anything to make the situation better really. One of my students that asked me about the story said this reminds me of a Paul Walker movie Hours, and when I saw the preview for it and him cranking the machine...it was a moment that really captured that feeling. If you haven't seen the film the link to the trailer is here Hours Trailer .
Gloria was finishing up her round of Vigabatrin/Sabril (the anti-seizure medicine for infantile spasms that worked for her). Her vision was still impaired and her eyes were not working together well. At the end of her Sabril treatment, she actually stopped vomiting for a couple weeks, but as soon as we weaned off the Sabril she went back to vomiting 10 times a day...it was and is one of the more difficult aspects of her challenging life. After nine months of fighting we finally got Gloria an appropriate bed. It arrived right around her first birthday, and if you are a parent of a child that needs one and you are wondering how I accomplished the impossible...it was not easy it was many hours on the phone pleading my case and I appealed 4 times. I let the insurance know that no wasn't an answer. Finally the argument that worked is that the insurance company would be able to discharge us from the hospital earlier in the future if we had the proper supports at home including a proper bed. One day at the children's hospital costs about 4000 more than the bed so the insurance agreed.
Then we got approved for the K plan in Oregon. It saved my life probably, because it allowed us to get a night nurse to provide care for Gloria at night. It also gave us some financial relief by putting Gloria on medicare as a tertiary payer, which is brilliant. I have known several parents of disabled kids that were bankrupted by the medical costs and it drove them into homelessness and then their kids went to the state anyways. It is an idiotic system we have setup, because in the end it costs the state more to care for the child than if they just provided care in home as opposed to a pediatric skilled nursing facility. Not to mention the lives that are destroyed in the process.
Moving along. Gloria then had her first birthday, it was an emotional time. We began to build a more sustainable life. With the support of our family, and our gracious nurses we clawed out of that difficult time. Gloria slowly improved, and eventually sat up independently for the first time in December 2014. Both girls were very sick the whole Winter of 2015, because Aurora had started pre school. It was again a very difficult time. I had started a new job and it helped me immensely...plus we needed the money to pay all the back logged medical bills. We had blown through 3 high deductibles in 2 years. We set a land speed record for blowing through a high deductible with the girls in January 2015, it was gone and we were approaching our out of pocket max by the second week of January. Needless to say I am not a fan of the cost structures of our healthcare system. Gloria began to struggle to keep on weight again, because of the retching and vomiting which was still about 7-10 times a day. We searched for tricks from other Cardio Facio Cutaneous Syndrome families and they were immensely helpful. We got her well, and we continued on with therapies and early intervention. We then began to reel in her medication situation and try to find a way to limit the medications, and we were successful in getting her down to just a few medications a day. Her vomiting improved as Gloria gained strength.
The Spring and Summer of 2015 was a blur. Once we got the girls well, we were just grateful to be treading the proverbial water. I decided I was going to try to take a stand and do what I could to advocate for disability rights and services. I attended several local, regional, and state advocacy events. I got in touch with FACT and FEATT, our state and local disability support groups, which are fantastic. We got some good done, and encouraged an increase in early intervention funding for the state, but the growth of the need in the state more than ate up that increase in funding. Gloria was slowly improving, but still not standing or walking, and I was getting very concerned. There was light at the end of the tunnel, because we were about to attend the CFC International conference.
The conference injected some much needed hope into a difficult situation. Gloria was improving, but at a glacial pace. I had met with doctors and geneticists, but many of them knew less than I did because CFC is so rare (450 or so diagnosed in the world). We met with all the families we have gotten to know and love via the CFC International website and facebook group. We also got to meet with all kinds of specialists ophthalmologists, geneticists, genetic counselors, orthopedists, cardiologists, neurologists etc. It was amazing, because all of them knew a ton about CFC and gave us hope for Gloria's future. The most important people we met were the other CFC affected people. It is like you are pulled into a de facto family, and you are all on the ride together. We support each other share in others successes and grieve one another's setbacks, and losses. Another group we met at the conference are the Rasopathy researchers from around the country (CFC is grouped with related syndromes that affect the same genetic pathway called the RAS Kinase pathway). Rasopathies are heavily researched, because nearly 1/3 of tumors have a mutation in this pathway that affects apoptosis or cell death. It was an odd touching moment watching one of the researchers explain to me his studies on zebra fish in which he gave the same mutation my daughter had to study its effect etc. When I told him that my daughter has the same mutated gene as that zebra fish population on your poster board there his jaw dropped, and when he held her his eyes welled up. I think I convinced him that his research has real world ramifications, and he expressed to me how excited he was to continue his research. The advent of CRISPR CAS9 as a viable gene editing tool, and the assertion of the Washington conference that research will continue in December of 2015 means that at least there is hope.
I encourage you to read the newsletter put together by our organization...there are so many great stories. A special thanks to Brenda, Molly, and the others for putting it together. CFC November 2015 Newsletter Our article is on page 15.
That brings us to the Fall of 2015. After the conference I had a fire lit in my belly to put my talents to work ensuring that I was doing everything I could to find a treatment or cure for CFC. The board of CFC gave me some tasks to assist in this journey including a gathering of all the research articles on CFC (literature review). The next task the board gave me of assisting the registry team in pulling together information about different rare disease registry hosts. We are now working on finalizing our choice, and sometime this year we should have our registry up and running. This is important so that researchers can access information about our syndrome easily.
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