Redefine Normal // Rediscover Hope

If you're engaged and excited about what you read here, then consider getting my newsletter. This won't be a way to read all my blog posts, and it's not a "help me sell my stuff" list. Let's be honest -- you don't need another sales newsletter, do you?

Yes, I'll talk about my books and where I'm speaking, but it's really another chance for community. I'll share random things that may or may not interest you...like my favorite coffee and why I think wombats are better than narhwals. And I'll invite you to do the same.

A Day in the Life of Rett Syndrome: A Parental Perspective

Today I continue my A Day in the Life series, which started so wonderfully by a conversation with Christa Sterken about fibromyalgia. I am talking today with Colleen English about her daughter Claire, who has Rett Syndrome, or RTT.

Here is Colleen’s description of Rett Syndrome

Rett Syndrome is a rare genetic disorder that primarily affects girls. It limits how the synapses in the brain connect. This leaves them with severe motor challenges. Most have little purposeful hand use, are completely non-verbal and require assistance if they can walk. Along with the severe apraxia comes scoliosis, seizures and GI issues. Not every child with RTT has all of those however they are common across the population.

Girls with RTT like Claire are born healthy and develop typically for the first year

We had no idea that anything was amiss until she was 14 months old. After batteries of testing, blood, urine, MRIs she was diagnosed 2 weeks before she turned 2.

She fed herself birthday cake that year and continued to feed herself until Thanksgiving. Thanksgiving dinner, 2007 was the last time she fed herself, the next morning she woke up and her hands just went together and she stared at her food. She was also 2, going through a sensory hell along with the loss of use and was pissed off for a few years. If you would like more details on the Rett Syndrome, click here.

Now this sounds very scientific, but let me break down what it would mean as a parent. You have a daughter, and she is beautiful. But…and this is a HUGE but…

she cannot talk…she cannot walk…she cannot use her hands well…plus she has seizures.

Put yourself in Colleen’s shoes for a moment. The changes you would have to undertake just to get through each day would be momentous. It would be so easy to despair and fear nothing would ever get better. Especially when there is no known medicinal cure yet, only clinical trials not covered by insurance and anything but cheap. I bet that is exactly what some parents of Rett Syndrome do: despair, lose hope, and just generally let this illness rule their lives.

This is not the stuff Colleen English is made of, and it is why she is one of my heroes. Colleen has fought every day for eight years for her daughter Claire. From school to friendships to clinical trials, she has championed her daughter’s cause. But she doesn’t just fight for her own family.

Colleen took it a step farther and created the Rettland Foundation, a not-for-profit organization that lowers the bar for other families to enroll their children in clinical trials.

Do you know ANYONE who would make a choice like this, to make a choice one day to just START a not-for-profit to help families across the nation? I know one, and we are about to talk with her now.

Rettland has two programs to support families:

  1. Rest Easy provides assistance for the screening visit for clinical trials, including hotels and a food allowance.
  2. Chloe’s Fund is named after Colleen’s daughter Chloe English, who dreams everyone can participate in clinical trials, regardless of economic ability.
Give me a snapshot into a day of your life.

rett syndrome

Each day starts at the same time. Claire’s meds have to be given at 7:30. She needs to be stretched, dressed and fed before she can have her meds. Most weekdays she goes off to school or a respite facility. While she is there I try to do everything that I can’t do with her around –laundry, groceries, showers and my work with the foundation.

Most days there is an appointment around 3pm, either physical therapy or a specialist. After that we try to do something active if Claire has energy. Then we eat dinner, it takes an hour to feed Claire and do night time meds. Then we do night time stretching, rubbing skin and stories before bed. After the girls are asleep we get take out and collapse on the couch.

Through all of the activities of the day we are also facilitating Claire’s communication by asking questions and giving her a field of two to answer from with her eyes or arranging for her eye gaze computer to be accessible. Also, we are constantly watching to make sure she is breathing and watching for stiffness that needs to be corrected to avoid seizures.

What are some struggles nobody sees?

People don’t see the quiet in the car when we go places. The silent tears when she is sad and I don’t know why.

Being in a wheel chair makes a lot of life hard –there are stairs just about everywhere. Nobody sees my heartbreak when I see other people on the beach, a place we can’t go with the wheel chair. On good days, I carry Claire down the 30+ steps to the beach to stand for a few minutes, that is one of her favorite things to be close to the water and I work hard to be able to carry her up and down there for that special time.

I wish people knew that while Claire does not speak she says volumes with her eyes and she is an expert in non-verbal communication.

The exhaustion is something that is often overlooked. People don’t realize the fatigue I have. Spoon feeding, diapering and listening to a baby monitor for 8 years with no sign that it will let up is so tiring.

She understands everything and makes the most of her circumstances much of the time. She chooses happiness. It does not come naturally or easily. Our family fights for it.

What are some accomplishments you are proud of?

Claire is comfortable in public because we take the effort to give her those opportunities. Claire is mainstreamed and learning because I have advocated for her education.

She has typical friends and enjoys a rich life with opportunities not just to have friends but also to be one, which is a feat much bigger than most people realize.

rett syndrome

 

What are some phrases that people say that you wish they would just stop using?

God gave you her because He knew you were perfect for the job.

God won’t give you more than you can handle.

God only gives these special angels to special parents.

Those who cling to any type of faith, please notice that every phrase here is related to God. We must learn to be careful with the way we involve our Creator in chronic conditions. More often than not, it incites anger and pain in those we want to encourage.
What are the biggest challenges with your condition?

People assume Claire is happy because she is special needs. That sounds harsh, but people really don’t think through that she understands everything and can’t speak.

I want people to talk authentically. Not to start a conversation out of pity but out of empathy.

Others often think I don’t grieve every day. They often treat me like I should just be happy to have such a physically beautiful child.

A lot of people talk to Claire like a baby because she is non-verbal. She longs to articulate her thoughts, but not able to do so. Her eye gaze computer allows her limited access to expressive language, but she wants to say more.

People don’t often consider the intense sorrow of not being a typical eight-year-old girl but unable to speak. It is a lot like torture and hard for both of us on a daily basis.

How do you reconcile whatever faith you have with Rett Syndrome?

While I don’t know I am thankful for RTT, I do know that it has exposed me to a much bigger side of God and a lot more beauty than I ever imagined.

Caring for someone this disabled is like seeing the face of God. My payment for this is something far greater than you will ever understand. There is something about caring for someone so fragile and so dependent that brings me face to face with the divine. I know God better because of the hard things.

God loves us but shit happens, sometimes in the form of random mutations. 

I think today’s focus on comfort as the goal of life is misplaced, and if you find comfort, your life will not be rich. I just don’t know that God ever says easy is the path to what you want. When I read the Bible, easy is not in there.

rett syndrome

What is something you absolutely love and want to share with the world?

I am so proud of Claire for not giving up and for pushing everyone around her. While she was on the treadmill –still working on her first independent steps at 8 years old –she let me know that she wanted to be in the clinical trial. Even though it meant missing a lot of fun, getting shots twice a day and a lot of travel, she wanted to try. I am so thankful that we have.

Her tenacity has affected those around her. All of her friends want a medicine for RTT too…but they want it for other families, not just ours. This is why we started the Rettland Foundation. Claire’s bravery has given us the ability to encourage others to be part of changing a degenerative disorder into something that is treatable with recent medical discoveries.

With the power of a few little girls and some lemonade stands we have already helped 13 families get to clinical trials, and we accelerated the completion of the first phase II clinical trial in RTT.

What questions or comments do you have for Colleen?

The best part of Rettland is when people choose to be there, helping those who don’t have a choice to have a better life. Would you consider being one of those blessed souls and donate to the cause?