Monday, March 26, 2018

Spotlight Series: Rett Boys!

We are so excited to continue to highlight an extremely important group of people in our Rett family, our Rett BOYS!  Read on to hear Kate and her son Colin's journey with Rett Syndrome!

What is one piece of advice you would give to a rett mom who is struggling? 
Reach out to other parents of children who live with Rett Syndrome. It helps to know that you and your child are not alone.

What would you tell a newly diagnosed family? 
Please know that this child will fill your house with love and everyone in your family will be forever changed for the better.  This child will teach you so much about resilience, inner strength and human dignity. Be mindful of what you say in front of them. Just like any
other child, they hear what we are saying and absorb it. 

How is rett syndrome different in boys than girls? 
It isn't easy for any of them (females or males). However, the majority of the boys are very sick and yet they have to take a back seat to the girls when it comes to the research. This is so hard to accept, because so many of our boys have recently passed away. I don't want to see another one lost.  

What is your Rett Boys favorite activity? 
Colin loves car rides with a good view and great tunes! He bops along to songs with a good beat! Who doesn't?

What has been your biggest struggle so far? 
When he becomes frustrated he hits his head with his little fist.

What has brought you the most joy? 
So many things! His dancing to the music. His laughing fits. His sassy attitude. His comic timing. When he tries to give you a hug or a kiss. The reaction when Colin see's his brothers and sister after an absence. They love each other so much. 

How do you continue to make time for yourself? 
I find the most beautiful place that I can find and take a walk. If I can't do that, I take Colin for a ride on a scenic road and play some good music. I read when I can. I write when inspired. I drink herbal tea. I buy myself cheap flowers at Trader Joe's or pick some from outside. I work part time.

What do your Rett Boys goals look like? 
My #1 goal for Colin is that he will someday soon, be able to define his very own goals. My goals for him are secondary but I wish he could fully use his hands again, walk with less difficulty and talk with others. I also wish that he wouldn't feel so frustrated at times.   

Thank you so much to Kate and Colin for giving us a glimpse of your lives together.  We continue to celebrate ALL of our Rett kiddos and their accomplishments!  

Wednesday, February 7, 2018

Spotlight Series: Rett Boys!

We are so excited to continue to highlight an extremely important group of people in our Rett family, our Rett BOYS!  Read on to hear Maja and her son Tobia's journey with Rett Syndrome from Denmark!  

What is one piece of advice you would give to a rett mom who is struggling?
I think we all struggle on/off because Rett does that to you. The feeling of being utterly lost as a parent of a Rett boy comes and goes, and I think it’s very important to know that it is perfectly okay to struggle. Just breathe and feel all the feelings running through your heart. 

What would you tell a newly diagnosed family? 
My boy Tobias, who is turning 11 in March, got his diagnosis last year so I still am not even sure what to tell myself. I’m the kind of person who went online and looked at all articles regarding Rett. I broke down and cried for days. Much of the information you find out on the web about boys with Rett is very doom and gloom. I think it’s because it’s a very small community and there’s not enough organizations out there talking or sharing about our boys with Rett. I read early on that “most boys with Rett live a very short life.” I highly recommend to not give into that or believe it. The most important is to get out there and learn everything you can and care for your son the best way you can and know how to. It’s important to know too that it is perfectly fine to feel some anxiety about the future. You can’t let those feelings take over though. We have to understand that every child with Rett is different, unique in his or her own way and it’s important to know you’re not alone. Our Tobias has brought our entire family unbelievable joy and it’s our job, our duty to care for him the best way we can and that starts with getting quality education about how to help care for him. 

How is Rett syndrome different in boys than girls? 
This is a very difficult question to answer without sounding as if we are competing with which gender suffers the most but I can share that what I’ve learned is often the boys are much more medically fragile than girls, not in every case though. Since girls are borh with two X-chromosomes, it’s possible that 50% of their cells are impacted whereas boys only have one X-chromosome, so typically their cells are impacted at 100% but then there are the mosaic Rett mutations.

What is your Rett boy’s favorite activity? 
Tobias is a big fan of cartoons such as Kung Fu Panda, Happy Feet, Madagascar, etc. He wants his cartoons to be a bit wild and not too baby-like. I know he feels safe and at ease when he watches TV, but I do admit, I wish we could focus on some other activities besides television. He also loves to eat but who doesn’t? Ha Ha! 


What has been your biggest struggle so far? 
Our biggest struggle I think has been ensuring he receives the care he deserves. We live in Denmark and I know that from the viewpoint of the world we may appear to be privileged when it comes to healthcare in comparison to other countries with such things as hospital visits, medication, therapy expenses, etc. but since Tobias just received the Rett diagnosis last year, we have really had to fight the system to make them understand my boy and his needs. Another major struggle is a mix of many things. The other is that Tobias is not very social and does not care to be in large crowds or where there are many people gathered. He can become physically sick if I take him somewhere he hasn’t been before, so our world is very small and frankly, it can become quite lonely - especially since I’m a single mother. 

What has brought you the most joy? 
Tobias’ smile is incredible. He brings us so much joy. There are so many things that Rett Syndrome has robbed Tobias of but I must admit that I do try to focus on the good things. Like how he uses his eyes to communicate with us and can suddenly laugh out loud. To hear him laugh puts a smile on my face every single time.

How do you continue to make time for yourself? 
Time for myself? What is that? Ha Ha! As a single mother to a son with Rett, I must say I don’t have a lot of time for myself. Tobias usually spends once a week at my parent’s place and that’s the time I use to unplug a little. It’s not a lot but does give me a bit of time to recharge and regroup where I need to.

What do your Rett boys goals look like?
I like to just focus on the present but of course there are things I really want for Tobias. So I try with ‘smaller’ goals. The last one I had was to get him to work on sleeping in his own bed and it happened! He recently has improved in some fine motor skill with holding his fork when he eats, something we’ve been working on and now we’ll keep building upon. A larger goal we have is to create more awareness about Rett Syndrome and what boys with Rett go through. Maybe we’ll end up finding others out there that need more information or education and I can help encourage them along the way. This year I plan to host an event to support Rett Syndrome research in Denmark. I want the world to know all about my wonderful son and the incredible possibilities for an amazing future we have hope for! 
The miles may separate us, we may have boys or girls, we struggle with health concerns, physical issues, educational problems or maybe even all of the above, we have differences for sure but one thing that brought us all together is Rett Syndrome.  Someone one said that this is the best club you never wanted to join and we would agree.  Thank you Maja for sharing Tobias with us!

Wednesday, January 10, 2018

Spotlight Series: Rett Boys!

We are so excited to highlight an extremely important group of people in our Rett family, our Rett BOYS. Rett Syndrome is well known as a disease that affects mainly girls, but we have some strong fighters among us and we think they and their family deserve to be heard. For the next several months we’ll be highlighting these one in a million Rett Boys, sharing their stories and how we are all working hard to come together on behalf of all of our kiddos across our communities.
Jen Ballard is mom to son AJ and is the newest member of our GP2C Power Team! Jen shares with us a bit about their journey with Rett Syndrome and their strong fighter AJ.

What is one piece of advice you would give to a Rett mom who is struggling?  
Don't give up. It's not going to be easy, but whatever you do, don't give up. At times, it seems impossible, and lonely, but your child knows what’s happening and I believe they know you are trying and doing the best that you can. Try not to compare your situation with another. Every child will have similarities, however, there are many that have differences too.
What would you tell a newly diagnosed family? 
Don't jump on the internet and start researching right away. I did that, and it was the worst thing I could of ever done. Start local and then branch out. Look for support groups but be cautious. Most of the times, they are very helpful, however, I feel that sometimes, they can be depressing too. And the big thing, don't change your expectations for your child. Treat them and get them involved in organizations and programs just as you would a child without Rett.

How is Rett Syndrome different in boys than girls?
This is a hard question to answer because all the boys I have met along the way are so diverse. Some similarities are that the boys have seizures and breathing issues. Some differences are that I have seen is that the boys don't always have the hand wringing that the girls have. They also seem to regress a lot faster. My son started showing signs that something was wrong around 3-4 months and at a year we almost lost him. He had a tracheostomy and a feeding tube inserted, and I truly believe that this intervention saved him. However, we didn't start seeing seizure activity until he was about a year and half. That's when we had the epileptic genetic panel done and found out about the MeCP2 male deletion. The biggest difference between boys and girls with Rett Syndrome that I have seen is that most boys do not have a deletion of the X chromosome (like my son has) ... they usually have a duplication, triplication or even a quadruplication which means that there are extra sections added on to the MeCP2 part of the chromosome. And according to research, most boys who have this don't make it out of utero, or they pass within 18 months-2 years ... so every boy that is older is a miracle. 

What is your Rett Boys favorite activity? AJ loves music! Music therapy is his favorite thing to do. We are working with him with switches because he has some mobility in his right arm and we have some switch adapted toys we work with as well. He also loves the water. 

What has been your biggest struggle so far? 
Finding support. It’s been very challenging to find others that "get" us. We have found some other families in the same boat, but we are spread out around the country and the world. Trying to get involved with medical trials Is difficult as well. The life expectancy of boys is short and sometimes I feel like we are just treating the symptoms and just passing time until the inevitable day. We need to bring more awareness in general about Rett Syndrome and help others understand that our incredible boys are impacted as well. 

What has brought you the most joy?
AJ’s smile and the way his sister interacts and cares for him. It is truly a bond that is so beautiful to experience. The love they have for each other is incredible. 

How do you continue to make time for yourself?
This is a tough question to answer. The last time I took time for myself was when I went for a massage and pedicure back in June. And before that, it was about a year ago. I took a day got out. Between appointments, work, taking care of AJ and his sister, there has not been a lot of me time. 

What do your Rett Boys goals look like? 
For doctors to test for this sooner and make this test a part of the newborn screening for boys and girls and to bring boys out of the shadows and give them a fighting chance and a stronger voice.

Special thanks to Jen and her family for sharing your insight and perspective. If you are the parent of a Rett Boy, we want you to know that you are NOT alone. We see you and we want to hear from you. Contact Kristin at to learn more about the family support available for you and your family at GP2C. Together, we are making impact for our kiddos both for today and tomorrow.