THE SOPHIE NEWSLETTER
(Sophie is 17 months old!
Well, it’s that time again! Once again we find ourselves with lots of information to share and incredibly humbled by the love shown from friends and family.
The best news is that Sophie continues to improve and give us such joy every day. She is one incredible kid! So many wonderful people have touched our lives through this funny, happy, delightful little girl. As usual, our families have always been our foundation of strength and love. They will never know how much we need and love them and their continuous gestures of support. We have been blessed with some extraordinary people that we like to call our extended family in the Oak Park area. Our good friends the Anemas, the Coes and the Wesolowskis have always been there for us whether it’s a baby-sitter cancelling on us at the last minute, or an ear to hear our frustrations. Their gift of true friendship knows no bounds.
Sophie has some very special friends in her life. From her professional friends like Diane her Physical Therapist and Pat her Occupational Therapist, to her pals at her preemie class run by a very special lady named Ann, and her special recreation toy-lending friend Karen. Shauna’s family (Shauna was our old baby-sitter) and neighbors, Cathy, Jim, and Katrina have baby-sat Sophie and the house and cats on numerous occasions and are continuously giving us their time and energy and love. And finally there is Steve, who has never met Sophie, but is our Family counselor and has been with us through some difficult times. He has helped us become stronger and to look at life’s gifts. We have learned to look at challenges as opportunities and to find love and humor in life’s everyday ups and downs.
Sophie’s delightful personality shines because of these people’s gifts. Our gratitude knows no bounds and you all continue to strengthen our faith in the good of the world. Thank you, everyone, for your love and continuous support of our family.
At our last newsletter we were waiting on results from her nerve biopsy that was sent to Mayo for evaluation. The results put her in the Motor-Sensory Neuropathy category, an extremely rare disorder. Our neurologist readily admitted that this disorder has so little information that he recommended we make a trip to Mayo to see the head neurologist who literally “wrote the book” on this disorder.
We visited Mayo in early March. What we thought would be 3-5 days turned into a week and a half due to our unusual gal. The people at Mayo were great, but the process is not designed for little children. We came prepared to wait, but you become an expert at it with a 14 month old. She had a complete workup including many repeated tests from Rush, and results were the same overall. Additional tests were done to determine if Sophie could regulate her temperature, an MRI (Magnetic Resonance Imagery) done on her brain, and Rick and I were given EMG (Electromyogram) and sensory tests. We all had lots of blood drawn for many tests and they are even holding some of our blood for future tests.
The head neurologist, Dr. Peter Dyck, put Sophie in the Hereditary Motor-Sensory Neuropathy Type 2 category. What they could only truly verify was that she has a Sensory Neuropathy, since there is no family history of this disorder on either side. What this means (which we already knew) is that Sophie feels little if any external pain. Her motor delays are not typical of this disorder and her MRI showed white speckles throughout it. The doctors believe this is missing myelin (the coating on nerves which helps with the conductivity) and could be the reason for her delays. They have requested to see her yearly and to follow her progress.
So, what do we know?
— Sophie feels little if any external pain: if she cuts her finger or bumps her head she doesn’t feel it. We have been through some challenges regarding her teeth and mouth. Since she doesn’t feel pain she has started to chew pieces of her lips and to grind her teeth until they move or chip. We are working with a Pediatric Dentist to help her through this challenge. She has such an arresting smile…we hope we can keep it without doing too much damage!
— Her eyes are normal as far as they can test for it. Her eyes are precious to her in that they help her understand where her body is in space, and are subject to trauma. She doesn’t feel anything if she gets something in her eye.
— Sophie shows no sign of feeling hot or cold, but her system seems to get the message. Happily we discovered through testing that she sweats if she gets too hot!
— She has one ear that is not functioning properly.
— Sophie’s disorder is one in one-half million. Information and statistics are not very valid with this rare of a disorder. Dr. Dyck has seen only 12-15 cases in his career. Sophie is in the Type 2 category, but has some unusual additions.
— The prognosis is good if she avoids major trauma or infections that go undetected.
Will she walk? We still don’t know. She works with her physical therapist and her occupational therapist weekly. We are all hopeful. At this writing she is still struggling with sitting upright on her own and hasn’t quite put together any way to be mobile. The desire is definitely there! She continues to gain strength and is on what we like to call “Sophie Time” for learning skills.
Will she talk? Sophie has no problem communicating her needs to us. Her vocabulary is slowly coming. Her favorite word is “Doggie.” She understands quite a bit and seems to be on target for her age in comprehension. Again, we’re hopeful though she’s probably on Sophie Time for this as well.
We are currently looking into a special, at-home teaching program for Sophie through the Option Institute. With encouragement from friends, we will shortly be doing a fundraiser for Sophie so we can attend a training program in early 1996. We’ll keep everyone posted!
We did get a new dog! Her name is Jacey and she’s a 7 year old retired show dog. She is a Welsh Corgi like Riley, and has won our hearts already.
I had a little excitement in April. I had a benign lump removed after a base-line mammogram showed a growth — ladies, please get those tests done!!
Life is never dull at the Pruntys!
Sophie is a sweet and happy little girl now. She charms everyone who meets her and definitely knows how to win her Daddy’s heart. We would once again like to thank you for all of the love and support. In some of our darker moments some pretty wonderful things have happened to us. Sophie continues to share her rare and unusual gifts with us and makes us wonder at the amazing things she does daily. What comes easily to us and to other kids is a great challenge for Soph. We are on a great adventure together — thanks for joining us!
All Our Love,