Eva's Nationwide Children's Hospital visit Jan. 24th 2021

Hey everyone today has been a stressful day with some encouraging moments.  When we first arrived at the appointment all was good and Eva was excited to see all of her doctors.  The first doctor came and took her to evaluate her while our main doctor, Dr. Emily, stayed back to talk to Michelle and I.  Leading up to this appointment we had read online that the gene therapy trial for CLN3 was pushed back to the end of 2023 but were not sure about any other details.  Dr. Emily began to tell us the bad news, that she was just informed that Amicus, the company who is now running the trial that Dr. Emily created, has decided to change the way they deliver the gene.  Originally it was given through the end of the spine but now they want to do it through the brain stem.  Dr. Emily was given no research to back up this decision as her original approach and trials on the 4 children have been successful and not showing any signs of the gene therapy or approach not effective.  This means that the study has to start over again and from scratch and so there is no real timeline on when this will be available or start again.  The Dr. said that she is not very confident in a timeline as they have pushed the study back 2x's at this point.  She is extremely devastated and was very apologetic to Michelle and I.  While the doctor was speaking my heart was racing and for the first time I had to ask to her to stop for a minute as the panic attack was taking over.  I had a feeling this was going to be the outcome but hearing it and being confirmed is too much to handle!  This past year and 9 months we have paused our family and have done everything we can to keep Eva a candidate for this hopeful trial and unfortunately Vivian and Everett have sacrificed extracurricular activities, trips, hanging out with cousins and friends, and as a family we have isolated to the extreme.  It was all worth it in the end, but I would be lying if at this moment I am feeling sorry for my family and a little hopeless on this day.  The doctor did inform us that there may be some oral drugs that will be available as a trial to treat CLN3 and when gene therapy is available it could act as an adjuvent (increasing the effectiveness when combined with other therapies.)  However there is no guarantee when that option will be available.  If the gene therapy does happen (eventually) the doctor is not hopeful it will be in Columbus, so we will most likely have to leave the state for a month if and when the time comes.   We also found out how truly rare this disease is as in the United State there are only 30 kids currently with CLN3!  That is crazy! 

There has been two new developments with her condition and it has been mostly motor skills.  The Physical Therapist has diagnosed her with crouching gait syndrome.  Her leg muscles are weaking and causing her to bend at her knees while moving and standing.  We have 3 months of out-patient physical therapy, and of-course massage therapy from me, to try and improve her gait.  If we cannot do this or she begins to fall more we will have to put her in leg braces.  Eva also has in increase hoarseness in her voice and the doctors would like her to be evaluated by an ENT specialist.  They believe this is due to her excessive talking, as she goes many miles a minute while she speaks, but they want to make sure it is not due to anything else.  She got a prescription to rest her voice, but she is currently struggling with following the doctors orders!!

The encouraging moments that happened today was Eva scored higher on all of her other testing with Speech therapy, Speech pathology, Occupational therapy, Physical therapy, and Psychology from 6 months ago.  This means that all of the hard work the school district, michelle and I, and her grandparents have done has helped Eva to continue to learn and improve in her cognitive skills.  This is encouraging that the disease, even though has pushed her behind her peers mentally she is moving forward and not backwards. Finally, the doctor has approved her to have her Make a Wish come true.  Eva's Make a Wish is Disney but Eva has been on a travel ban to prepare for gene therapy, but at this time the doctor, and Michelle and I believe it is important Eva is able to enjoy her Make a Wish before she loses any more to this horrible disease.  Eva is now saying that she is wishing for her Make a Wish to come true!!  Thank you all for the continued support as it truly helps and all we can do is continue to hope and pray that one day a treatment or, even more hopeful, a cure is in the near future!  I hope this is everything if anyone has any question please respond to this and I will do my best to answer them.