The Diagnosis We Never Wanted

I have struggled with how to write this post to you. It’s so much easier to write when the moment has passed, the problem has been solved, the mountain apex has been reached. It’s very hard when you know that the moment will never pass… About 7 months ago, I shared with you what it was like to not receive a diagnosis for our youngest daughter. Today, I wish I was writing that post all over again, instead of sharing the diagnosis that we received. This post isn’t “pretty”, it isn’t fun, and there is no light-hearted ending, unfortunately. Getting diagnosed with Rett Syndrome is possibly one of the most devastating diagnoses that can be had. This is the diagnosis we never wanted.

Sometimes getting a diagnosis CAN be worse than not knowing. Here's my take on why learning about Rett Syndrome was the diagnosis we never wanted.

Last Thursday morning, I was the mom of a beautiful little lady with a developmental delay. She was making great gains and we were really getting “in the groove” of life. I think I was getting a bit cocky when I started thinking, the worst is over, she’s really starting to do great.

In fact, life was going so great that I was enjoying a tiny bit of free work time at my desk without Shiloh on my lap when my cell phone rang.

On the other end was Shiloh’s lead geneticist. She quickly began to explain that Shiloh had a gene mutation that was no passed from either of her parents. The MeCP2 gene had a mutation and that mutation was the absolute determination of a diagnoses of Rett Syndrome. Rett is a disease that almost exclusively affects girls.

I think she glossed over a lot of things. She knew that I had never read about Rett, so she related it to the things that we had already seen with Shiloh.

Sleep disturbances

Months to years of intense crying spells with no apparent reason

Developmental Delay

Hand wringing and rubbing

That super cute pose where she holds her hands behind her back

Hands in the mouth

Trouble breathing (the phlegm-y rattle that she had for several years)

Blank stares where her mind seems to disappear

Trouble walking

Delayed milestones

Poor diet/trouble eating 

These are all the things that we knew. It didn’t sound SO bad. She had mentioned the need for testing to determine if she was having seizures, but didn’t go into detail about it. She sounded so positive.

After I got off the phone with her, I started reading. I think I was numb.

I shared the news very matter-of-factly with our family and friends. None of them had heard of it. They weren’t worried.

I kept reading. I asked some special needs moms if they had ever heard of it.

Some had.

One said she was “sorry”. It is a “scary diagnosis”.

Then it sunk in.

Nothing had changed. But everything has changed.

This is what we’re actually up against with Rett Syndrome. 

Stage 1: A girl is born appearing to be normal.

Stage 2: Starting anywhere between 6-18 the girls will begin to deteriorate. The will lose skills that they had including speech, ability to use their hands effectively, some lose the ability to walk at that point. The crying happens.

Shiloh’s crying began at about 6 months and lasted until she was 3. She did learn to walk, but appeared to have the gait of a much younger child. Her balance was terrible. She couldn’t seem to learn any words. We would think she had some and then they were gone never to be heard again.

Stage 3: Starts at 2-4 years. This is the plateau stage. The girls stop losing skills for a while. They start making progress.

This is where we’re at.

Seizures can start at this point. I read somewhere that over 80% of Rett girls have seizures.

Stage 4: Rapid deterioration. Anytime after 10 years old, Rett girls begin to lose any skills they gained. Including the ability to use their hands, most lose the ability to walk, the ability to speak. They are dependent on others for the rest of their lives.

Not an optional stage…

So, we’ve been handed a timer. And we have no idea when it will go off.

I would love to beat the odds. I would love for her to be a miracle story. I would love for them to discover a cure.

Our only choice is to handle one day at a time. One issue at a time. And to help Shiloh in every way that we can.

I thank you for your continued prayers for Shiloh.

We are currently working to get her a great team of doctors and therapists. And we are discussing the possibility of putting her into school in the Special Ed program here if only so that if would give us a few hours of a break each day. The pre-k special ed program in our district has full-time exclusive therapists, so we are hoping that this is the right choice. We can only do this if the entire staff has full seizure training.

If you would like to learn more about Rett Syndrome and the steps they are taking to find a cure, these websites are great resources:

Girl Power 2 Cure

Rett Syndrome Fact Sheet

Rett Syndrome Research Trust

As I learn more, I will share more.

Here’s to the hope that we will have more good days than bad…

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30 Comments

  1. Thank you for sharing your story. I know that you will help a lot of other parents who are going through a similar experience.

  2. I am so sorry to hear that your precious little girl has received this diagnosis. I hope that your journey is as smooth as possible and that your support network provides your family with love and support.

  3. Here’s to more good days than bad, doctors and specialists that help you find the right answers for your family, and the comfort and confidence to take one step at a time.

  4. I wish I had some wonderful words of wisdom to share. All I can say is thank you for sharing your story. Surely it will help other parents who feel alone after receiving this diagnosis for their child.

  5. I am praying for you and your baby girl. After the loss of my daughter at four months after open heart surgery. I have come to realize that no one knows what is coming. You are absolutely right to live each day, as it comes. Live each day to it’s fullest. Enjoy each day with Shiloh as a blessing. Make loving, lasting memories with her. The diagnosis is a part of her and your life, but it does not define your lives. Find the support groups and other mothers in your shoes. It does help. OH, and don’t be afraid to ask for help. Your loved ones and friends will want to help you any way that they can. LET THEM. Blessings..

  6. I’ll be praying for you, Shiloh and your family. My heart goes out to you. I remember figuring out that my beautiful daughter had a disability. The doctors kept telling me she’d grow out of it. I had to let go of my dreams for her and accept the truth. The Lord worked through her and the difficulties. He took care of us! I’ll pray that He will touch you through this and bless you in the struggle.

  7. Kim, I am so so sorry to hear about Shiloh’s diagnosis but she is so lucky to have you in her corner. I will keep you and your family in my thoughts and prayers. This is a beautifully written post and you did a wonderful job of describing what parents go through in this process. Thank you for sharing your experiences.
    Chris

  8. My first thought was a few swear words, but I wont type those. You have an incredible journey ahead of you filled with amazing highs and lows that will take a lot of strength, prayer and faith. The diagnoses for you is such a mixed bag, yes you know what you are actually dealing with, but at the same time….you know what you are dealing with and what the future holds. From what I have read about your journey in the past, I know you have incredible strength and are the right person to be walking this path (no matter how unfair it must feel some days). Praying for many many good days for you all!

  9. I wish I had the right words. But I don’t. But I don’t want to not say anything. So I will just say that I am sorry. Please take time to grieve so that you can continue to be the mom she needs you to be.

  10. May you feel God’s love as He holds you and your family in the palm of His hand during this crazy journey we call life. Thank you for all of the free materials you have provided and for letting us know about your daughter’s plight. I will pray for you daily.

  11. Kim,
    Your precious daughter is blessed beyond measure to have you as her mother, and I know she is a beautiful blessing to your family as well. I am praying for you and your family as you go through this difficult time. Know that you have support and people behind you in this journey! Blessings to you and your sweet girl.

  12. I am so sorry that you received this difficult diagnosis. Hoping that knowledge will bring you strength to help your sweet little girl. Sending hugs to you and your family.

  13. I want to just give you a big hug. The journey might not be that easy, but I’m sure God gifted you this special child for a great reason to bless your family. I’m sending prayers your way.

  14. Many, many hugs to you, my friend. It is not easy. Holding you in the Light as you process and figure out how you’ll move forward as a family.

  15. Bless you and bless dear little Shiloh. I truly admire parents of special needs children, and you do so much on top of that! Such an inspiration!