- Segawa Syndrome
- Interviews
Cassie's interview
How did all start?
Around the age of 5-6 he started showing symptoms of weak limbs and balancing difficulties
Do you already have a diagnosis? How long did it take you to get it?
Yes he has a diagnoses it took about 2 years because of the rarity
For what medical specialties have you been treated? What has been the most useful specialty for your?
He is treated with carbidopa-levadopa as well as other muscular therapies. The therapy has been very helpful in becoming more independent
What has been the most useful thing for you so far?
There was a huge difference after he started medication, there was a hug change in energy level for the better. The therapy really helped to strengthen his muscles and improved his independency.
What have been your biggest difficulties?
He has not been able to walk since the diagnoses. He is always working to improve his muscular strength but it is difficult. Weight has also been a concern as it is harder for him to work out but it is not impossible, he has tried down quite a bit, he is now at a very healthy weight. Mentally it is also a struggle because it is hard for him to rely on others for help.
How has your social and family environment reacted? Have your social or family relationships changed?
Well because he is in a chair it is a constant concern to make sure everything we do is accessible for him. His siblings have only ever seen him in the wheelchair so they all grew up with is. He doesn't let the wheelchair stop him from doing much but it does make him anxious about going new places and traveling.
What things have you stopped doing?
Well because he has been in the chair for such a long time there was nothing we had to stop doing but there are just things we can't do like hiking, which is something I love but can not do with him.
What do you think about the future?
The future is very hopeful for a while. Eventually though he will build up a resistance to the medication and this will ultimately be the end for him but he has come to terms with this and we are moving on positively. This will not be for decades though as right now he takes a very small dosage. He continues to grow stronger and more independent.
So far, which years have been the best years in your life? What have you done during them?
Well some of the best years we have had together are right now. He was very sick and weak for a long time and now that he is being stronger it is much easier to do things outside of the house. We love to go to the movies and to basketball games.
What would you like to do if you didn’t have your condition?
Well I know that he would love to be able to play sports and run around. He loves sports very much.
If you had to describe your life in a sentence, what would it be?
He describes his life sentence as a sentence to be grateful for the time he is here and to be grateful until it slowly starts to go away. He knows there will be a point later in his life where he will no longer be able to take care of himself but he doesn't let that stop him from enjoying life now.
Finally, what advice would you give to a person in a similar situation?
The advice he gives to some else with this condition is to keep working hard to improve balance and muscle strength and also to be grateful for the time given. I would give the friend or caregiver the advice of working with them to achieve their goals. Remember that they do need help even if they do not accept it yet. Encourage them and care for them as they need because they will need a little bit of help.
