Now that Carmen is home (and thank you again for all of your prayers!), I’ll write a novel about our fabulous Florida trip for the annual Tay Sachs family conference! I know you have all been anxiously waiting- ha, ha!
We packed our minivan full and left Maryland Wednesday at 2pm and made it all the way to Savannah, Georgia. We stayed the night in Savannah and the next morning took a quick tour around the town. I would really like to come back to Savannah. I love old southern towns. Beautiful houses, trees, flowers, southern restaurants, etc.
Thursday we drove to Tampa and settled into the Tampa Marriott Waterside Hotel and Marina. Well, more like we dumped out stuff into our room and took off for dinner! We were happy to see Dr. Tifft, Carmen’s geneticist, and Stephen and his family (an adorable little boy with GM1-Gangliosidosis, who lives 10 minutes from us). We had a wonderful dinner (ribs and chicken) and met a few families.
This year 19 children with Tay Sachs or a related disease attended the conference. Along with parents and siblings, some grandparents, aunts, uncles and friends also attended. I was pleased to also see that so many families come back to the conference each year, even after their children pass away.
Friday morning we met the other families in an emotional parents’ session. This session was made up of both families with living children and ones who have already passed away. Each family told their story and many tears were shed. I felt like I was in the presence of greatness. Great strength, compassion, perseverance, and love. These are parents who have become true Tay Sachs experts and medical care. Oh, and they could probably teach a class on fighting insurance companies too!
Friday afternoon we attended a round table discussion on the research being conducted to find treatment and ultimately a cure for Tay Sachs. I think the conclusion is that in 3-4 years a drug may be available to break down gangliosides, the fatty stuff that builds up and causes the extensive brain and spinal cord damage in Tay Sachs patients. This time-frame would be best case scenario. It may take much longer to find a cure but we can always hope!
During the day on Friday, Lauren went to Kiddie Corp, the camp for healthy siblings. Lauren had a blast! As soon as we would pick her up for lunch, she was ready to go back! The kids played games, made crafts, watched a movie, etc. Carmen stayed in the nursing care room. A group of fabulous nurses volunteered to care for the children. I picked up Carmen after the morning session, and she was lying on the bed with Rachel, a 9 year old with Canavan Disease. I wish I had taken a picture or videotaped the moment. Carmen and Rachel were facing each other and Carmen’s hand was touching Rachel’s face. It was a precious moment. One of the nurses, Franci from Alaska, spent a lot of time with Carmen and we hope to keep in touch.
Friday dinner was the only meal not provided by the conference so we ordered room service and put the kids to bed! Lauren usually goes to bed by 7pm and desperately needed a good night’s sleep! My usually calm, happy child was having massive meltdowns!
Saturday morning we kept Carmen with us and attended a discussion/presentation on symptom management. We watched a video, Cameron’s Arc: Creating a Full Life about a family who chose less intervention for their daughter. This video really spoke to me. I often question how much medical intervention is too much. After the video, Big Elise’s (a 5 year old with Tay Sachs) nurse spoke about the therapies and equipment used to keep Elise alive and comfortable. I was happy to learn more about the treatment options. It is very hard because part of me wants to use everything possible to keep Carmen with us. But, I think about Carmen’s future quality of life and the reality of Tay Sachs. As of now, our goal is to keep Carmen comfortable and we will use what therapies accomplish that goal.
During the symptom management class, Eric and Nicole, Rachaeli’s parents held Carmen. Rachaeli is a beautiful 5 year old with Tay Sachs. We enjoyed getting to know this lovely family. The conference truly would not be the same without Eric’s philosophical comments and wit and Nicole’s quite, steady calm. www.rachaeli.com.
Saturday afternoon, Dave took Lauren swimming and I went to another parents’ meeting. After the meeting, we went to a Celebration Dinner. I spent some time talking with Little Elise’s (a 3 year old with Tay Sachs) mom. A few weeks ago, I saw a picture of Elise on her website with a Critter Piller neck pillow. I ordered one for Carmen, a pink puppy, and it works fabulously in her Kid Kart.
Sunday brunch we said our goodbyes and took lots of pictures. It was sad to say goodbye. This conference was the one place where our lives are “normal.” We met many wonderful families and to each family, thank you for sharing your story and your children. If I try to name each of you, I am sure I will leave someone out so I will just say thank you.
Thank you also to the families who brought gifts. RJ’s mom gave Carmen a stuffed horse with an RJ pin, Rachaeli’s dad gave Carmen fuzzy socks, PJ’s dad brought pillows with a hole cute out for ears (PJ’s mom made the pillows), and Dakota’s dad gave us a short pole to attach her feeding bag and pump to a stroller (Ken made these himself!).
I want to close my Tay Sachs Family Conference summary by thanking Mario and Marlin, Bryan’s parents from Guatemala. Mario and I have been emailing back and forth for several months. A while back, Mario offered to try to find Carmen’s birth mom to tell her about Carmen’s disease and that she is a carrier. If Carmen’s birth mom was to have another baby with Tay Sachs, AB Variant, she would know what was wrong. I prepared all the paperwork that might help Mario find her and Dr. Tifft wrote a letter explaining the disease. My friend Milagros translated everything into Spanish. I filled a photo album with pictures of Carmen and our family for Carmen’s birth mom. We gave everything to Mario and Marlin and as Marlin looked at the photo album, she cried. Thru a translator (Ruben, RJ’s dad), Marlin said that Carmen would not have had care in Guatemala and how happy she is that Carmen is with us. Marlin and Mario have been thru so much. Their older son passed away from Juvenile Tay Sachs and now their precious younger son fights the disease. Yet they have smiles on their faces and huge hearts. We told them we would like to give them some money to help with the expenses of conducting a search and Mario said no, we are family now. So, to our new family, thank you.
