Sunday, December 29, 2013
Sunday, December 8, 2013
Tuesday, October 15, 2013
Sunday, August 11, 2013
Thursday, August 1, 2013
Our family just returned from the Hunter's Hope Family and Medical Symposium held at the Holiday Valley Resort in Ellicottville, NY. Hunter’s Hope Foundation was established in 1997 by Jim Kelly (NFL Hall of Fame) and his wife Jill, after their infant son, Hunter (2/14/97—8/5/05) was diagnosed with Krabbe Leukodystrophy.
The annual Family & Medical Symposium brings together scientists, doctors, families, strategic partners, staff, board members and volunteers for a week of sharing information, learning, and supporting one another. Prominent researchers and families affected by Krabbe and other Leukodystrophies from around the world attend the Symposium to gain in-depth information about Leukodystrophies, learn about the latest developments in scientific research and medical care, identify available resources, and develop support systems.
This was our first time attending the event and it was a wonderful experience. We got the chance to meet, and learn from, other families from all over the world who are in the same situation as us. It was also a great opportunity for just the three of us to get away and spend some quality time together. The venue was breathtakingly beautiful, the weather was perfect and Reesa was comfortable and relaxed the whole trip (including the plane rides). It was also an emotional and inspirational experience as we learned the stories of families who've lost their children and those who've been dealing with these diseases for many years. We learned how lucky we are to have the Hunter's Hope network as a resource. We met families who lost children to this disease decades ago, when there was no such support system. It is amazing how motivated and dedicated the Universal Newborn Screening advocates are and the progress they're making in many states. We listened to researchers from the Hunter James Kelly Research Institute discuss the progress they're making towards learning about and curing diseases that affect the Myelin in the brain, like Krabbe disease.
Best of all, we met some really cool people and Reesa met some friends that are just like her...perfect!
Here are some pictures from the trip:
Sunday, July 7, 2013
It has been a couple months since our last update on Baby Reesa. For the most part, Reesa has been well and her condition has remained stable. Over the last year we’ve come to realize that the progression of Krabbe Disease is unpredictable. Although we’re always battling Reesa’s spasms and nerve pain, she’ll go weeks where her discomfort is present but manageable. Then, seemingly out of nowhere, Reesa will have days of horrible pain, spasms, muscle twitches, fevers and high heart rates. Krabbe Disease is degrading the insulation around Reesa’s nerves and inhibits the signals between her brain and the rest of her nervous system. Reesa takes over a dozen medications per day for nerve pain, inflammation, spasticity, comfort, digestion, bone strength, etc. but there are times when all we can do is cuddle and love her until the pain goes away. She is such a strong little girl who inspires everyone that meets her.
Reesa turns TWO on July 30th. She is such a big girl, 25 lbs, chunky and cute as ever. Reesa is surrounded by LOVE every day of her life. Her parents, grandparents and great grandparents can’t get enough of her! A couple weeks ago Reesa had family come all the way from Chicago to meet her. She loved spending with Uncle Glen, Aunt Laurie and Cousin Amy and we know they loved spending time with her.
Reesa absolutely loves spending time swimming in the pool and it’s a good thing because there isn’t much else to do when it’s 110 degrees outside!
Here are some recent pictures of Reesa enjoying the summer.
Wednesday, April 24, 2013
Sunday, April 21, 2013
We just returned home from our third trip to visit Reesa's Krabbe specialist, Dr. Maria Escolar at the NDRD at Children's Hospital of Pittsburgh. Reesa is part of Dr. Escolar's study to track the progression of Krabbe disease in order to help future children affected with the disease. Dr. Escolar and her team were generally pleased with Reesa's health considering her age and length of time since she was diagnosed. Although Reesa vision has greatly diminished she is still able to detect bright, abstract colors. Reesa's hearing is very good. She also had a bone density test and will be put on special supplements to help prevent future fractures. They also preformed an MRI to track the demyelination process in her brain. We won't know the results for a couple weeks but Dr. Escolar was optimistic that things weren't progressing as rapid as some affected children her age. The most important thing is to avoid respiratory issues and to keep Reesa's lungs healthy. So far so good!
Reesa was a perfect little girl the whole trip. She did great on both plane flights and during all of examinations. They were having issues with the MRI machine so Reesa had to sit still in the machine for almost 2 hours with no anesthesia. She was perfect girl and didn’t mind sitting around at all!
As usual Dr. Escolar and her team were very knowledgeable and helpful in answering all of our questions. We finally met one of Dr. E's nurses Tara West (in-person) which we were really looking forward to. Tara has been an invaluable resource to our family over the last year. She is available day or night and has helped us during many urgent situations. We are unbelievably lucky and grateful to have her as part of Reesa's medical team.
Some other good news; Reesa's leg is healing nicely and she will have her cast removed this week!
Here are some pictures from our trip to Pittsburgh:
Sunday, April 7, 2013
It has been a while since our last update and for the most part things have been going very well. We've been taking Reesa out quite a bit lately to enjoy the amazing weather before its gets too hot. On the weekends, Reesa loves sitting on restaurant patios while Mom and Dad have lunch. We also had beautiful Easter brunch with Grandpa Jim, Houston and Kelsey.
Unfortunately this past Monday we had a little setback. Reesa had a bad spasm while strapped in her stander and she broke her femur just above the knee.
We had a hectic afternoon, evening and night at Phoenix Children's Hospital and the next day Reesa had her leg set and put in a cast. The doctor said she'll have the cast on for 4 weeks.
Since Reesa doesn't stand or walk her bones lack the density caused by weight bearing and gravity. She is going to do a bone density test when she sees Dr. Escolar in Pittsburgh in a couple weeks. Reesa has been strong, as always, and she's back home in good spirits.
Sunday, February 24, 2013
We would like to dedicate this blog entry to all of the wonderful people that have become part of our lives and who make a tremendous difference in Reesa's life. When Reesa was first diagnosed, Hospice of the Valley came over to talk with our family. The one thing they encouraged was that if our jobs were supportive we should keep working to keep normalcy in our lives. If we were going to keep working we knew that we would need help during the day and at night. Grammy Flo has been there for us since Day One. She watches Reesa 3 days a week and we're so lucky to have her. In addition to Grammy we have also welcomed Nurse Angel and Nurse Stephanie into our home. When we first met Angel and Stephanie we knew they were a perfect fit for Reesa and our family. Angel has been a nurse for many years and has a lot of experience with children and although Stephanie didn't have as much experience with children, Reesa's story touched her because a family member has a similar disease and she was eager to work with Reesa.
When looking for a nurse we wanted someone that would take amazing care of Reesa and would love and care for her just like a family member. Angel was a perfect match! She watches Reesa 2-3 days per week. She is so patient with Reesa and loves dressing her up like a little doll. Angel not only takes wonderful care of Reesa but she is very proactive with her which is important because any small change in Reesa's behavior can be a sign that something is going on that needs immediate attention. Reesa loves when Angel sings to her and of course loves when they snuggle. Our night nurse, Stephanie, is also wonderful with Reesa and she allows us to get a full night sleep. Stephanie stays up and cares for Reesa by administering her meds throughout the night, suctions her as needed and periodically repositions her so she doesn't wake up with cramps. When Reesa decides she doesn't want to sleep she loves to snuggle with Stephanie late at night in her rocking chair. Stephanie recently started working with Reesa every other Friday (during the day) which is working out great. Reesa is always busy with visitors throughout the day. Every Monday and Thursday she has physical therapy with Cristina. The stretching and positioning done during Physical therapy help keep Reesa healthy and improve her quality of life. Reesa also works with Regina, a developmentalist, on Tuesdays. Regina stretches Reesa and also provides visual and auditory stimulation using the iPad with music and coloring apps.
Reesa's pediatrician is Dr. Barcellona. Dr. B is very compassionate and accessible at all hours. He also works closely with Dr. Maria Escolar at Children's Hospital of Pittsburgh. Dr. Escolar is the Director of the Program for the Study of Neurodevelopment in Rare Disorders. She and her team are experts with regards to Krabbe disease and direct us on all of Reesa's needs, including medications, equipment, therapies as well as monitoring the progression of the disease. Dr. E's nurse practitioner, Tara West, is there to support us literally any hour of the day. She has helped us get through many situations ad we can't wait to meet her in-person in April when we go for Reesa's next visit!