A Full Week

It is the end of another busy week, exhausting week. We had appointments everyday this week (some days multiple), except for Friday. Most of them

were various therapy appointments, with IVIG and some research lab work thrown in the mix. Health-wise Elias is doing well for the most part. We just finished another 3 week course of vancomycin (second course in 6-1/2 weeks) on Monday for C-diff and already we are seeing the beginning symptoms of a flare up emerging. I imagine Monday morning we will be calling GI for the next plan to try and beat out this very chronic issue. There has been some conversation between Elias GI doctor, His BMT doctor and the chief doctor of infectious disease on alternative treatments. Probiotics have been mentioned in the past, but BMT would rather try other options first. We do not fully understand the reason behind the reluctance, but she is a VERY good FA doctor that we trust explicitly. She is not 100% opposed, but would rather not jump right in if there is an alternative, which apparently does exist. So we will place this in their very capable hands and see what comes next.

On Thursday, Katharine and I gave blood for an FA research project that Dr. Auerbach is conducting. She runs the International Fanconi Anemia Registry in New York. Last March we resent Elias’ blood for complementation testing to determine which he has. Both attempts to grow his cell line have failed. This means they can not determine his complementation group. This also helps with identifying the others in the family with carrier risks. Our blood, as carriers, will be used to grow out our cell lines to find where the mutations are. Then along with a skin biopsy from Elias they can attempt to isolate in him to determine his group. There is much more depth to this study and it is very interesting what this has the potential for. Elias unique presentation is always a topic when we speak to those that research or treat FA patients. So she REALLY wanted us to be a part of this group study. All the researchers for FA are truly amazing to be so dedicated. Our community’s few numbers have embraced enough interest from some incredible scientist around the world that are truly doing remarkable studies that are achieving results. Each one closer to a cure.

This week was also our final evaluation with the speech therapist for his assistive technology communication. While the final recommendations are not formally in place, the reality is Elias is not ready for anything technology based at this time. With a five year purchase term between upgrades through insurance it is tricky to find something basic enough for him now, but adequate enough for him at

age 7. That simply doesn’t exist. A “low-tech” approach to total communication is the strategy. This is simply carrying on with what we have been doing all along. A Static board/book with pictures representing items and needs to point to or hand as a means to communicate and express wants or needs. In Elias’ case this is something that is not catching on and no one really can explain why. There are several theories from various providers – some of which we have mentioned in the past. They range from lack of visual attention, sensory issues or processing problems, behavioral issues, and even autism spectrum disorders. Other theories include his avoidance due to all he has been through medically, along with his desire to only focus on movement. The last one brought another thought by a therapist forward this week. Is it possible that Elias’ mobility – particularly with engaging static objects (non-moving) is his way of creating the motion he craves within his environment? In other words the toy truck stay still, but his patterned movement makes it appear to be moving in his mind, thus creating a desire to interact with it.

We took these concerns with us to the evaluation session. She agreed that these can be frustrating obstacles for everyone. Her feelings based on experience is that we just need to continue the strategies and be persistent. She really liked the artist portfolio book that Katharine repurposed for his communication book (yeah Mommy!) and feels it is simply going to take time. The underlying issue right now is everyone is feeling pressure because Elias ages out of Early intervention in 14 weeks. Preschool is set to start in the fall and for the moment he is unable to communicate his needs to anyone but us – We speak “Elias-ese.” Several providers have hinted and danced around this and we remind them it is why we have pushed and advocated so hard on this topic. Now that it is crunch time there is a greater sense of urgency from some of his providers. It is also fair to remind ourselves and them as well that Elias has benefited less than half the intervention he was eligible for, due to so much hospital time – Roughly 15 of the 36 eligible months. Speech has really only been 10-11 months because it was so difficult to get as a priority. That is the main reason I feel the system fails children like Elias – meaning Children with complex medical needs. He was penalized and forfeited valuable intervention because he had such complex medical needs that forced him to be hospitalized half his life. Don’t misinterpret this as us not feeling the providers working with him are not doing a fine job – they are. He has made progress, great progress given the brief time they have had with him. Just imagine the progress if the system did not take away from the time he can not control. Yes we will continue to work with him and seek outside therapy as insurance will allow because we certainly can’t afford out of pocket, but the fact still remains he would greatly benefit from the time lost, if the EI system allowed it. The schools provide a much different focus – that which is based on his learning needs and is less intense. Bottom line is, just because he is “not getting the concept” of this total communication with the various means we are employing, doesn’t mean he is not growing into it. He is simply not demonstrating it – be it because he is unwilling or unable. With time it will come, but likely will fall outside the crucial window we always speak of developmentally for children with hearing loss issues. Cognitively he should be able to – everyone agrees on that point. He has just not had enough time early enough for a break through. This is the challenge in children that are complex like Elias.