We Have a diagnosis: GRIN1

IMG_5129Laura took a deep breath and mustered up the courage to call the neurology clinic.

Families of sick children were supposed to wait patiently. The clinic nurse had made this clear eight weeks earlier when Laura first called to check up on Bryson’s lab results. 

But parents quickly learn that it pays to be pushy. And what was supposed to be a four-month wait had stretched to half a year of waiting to find out if Bryson had tested positive for a degenerative disease that would prevent him from reaching adulthood. So Laura ignored the ‘don’t call us; we’ll call you’ directive and dialed again.

“The results still aren’t back,” the nurse said. “We’ll call you when they are.”

When Laura pressed, the nurse reluctantly agreed to check on the file. A few minutes later, the nurse returned to the phone to sheepishly acknowledge that an error had been made. Bryson’s blood was never sent to the US lab for testing.

The reality of this – another four months of waiting – hit Laura hard. She hung up the phone and wept.

Four months later, the results finally came back. They were negative.

For nearly a decade, Bryson has endured countless tests to try to uncover a diagnosis: A muscle biopsy. Multiple MRIs and EEGs. Dozens of blood and genetics tests. One by one, we crossed potential diagnoses off the list as every test came back negative.

But a few days ago our world changed. Through a full sequencing of Bryson’s DNA, we have a diagnosis. Bryson has an extremely rare genetic disorder known as GRIN1, named for the gene that is misspelled.

It’s so rare that our doctors don’t really know much about it. And there’s very little on the Internet about it. But through social media, we’ve already connected with families in the United States and Europe who have children with this diagnosis.

While details vary from person to person, the common symptoms include moderate to severe intellectual disability and low muscle tone. Many kids also have seizures. Interestingly, several of these children find joy watching sports.

And the good news: the disease isn’t degenerative. GRIN1 kids progress and develop in physical and mental ability at their own pace.

Our kind and brilliant genetics doctor, Ronald Cohn, confided he’s been surprised over the years at how happy families are to receive a diagnosis – even when it doesn’t change treatment.

And indeed, getting a diagnosis has changed our world.

Laura has always felt like maybe the pregnancy was her fault – that she did something wrong when Bryson was in her belly. The pressure on expectant mothers to be perfect is immense. Now she can finally let go of this toxic guilt.

And for me? I understand now that Bryson’s little body is doing exactly what it’s supposed to be doing given his own genetic code. He is perfect. Yes, one of his genes is coded differently, but the vast majority – some 20,000 – are copies of mine and Laura’s. 

Not only that, but we now have the knowledge that in the future, there could possibly be new treatments – medicines or gene therapies – that could help Bryson to progress more quickly.

The biggest change, however, is that our family is finally part of a community. It’s a small community; we know of just eight other people with the disease. But we are no longer alone.

Bryson will never be alone.

We found these families through a blog post a GRIN1 mom had written.

So I want to speak directly to any families who might find this post after receiving their own diagnosis:

First, congratulations and welcome to our community. Please reach out so we can learn more about GRIN1 together. Meantime, I’ve included some links below where you can read more about Bryson and other kids with GRIN1.

Bryson

Baseball and Belonging

My Father’s Day Pledge

Hunter

Penguins games therapeutic for Carnegie toddler with rare gene mutation

Aislinn

Aislinn’s Treasures: Just Grin

 

20 Comments

  1. What a journey your family has gone through! You’re right, Bryson is perfect and you are not alone. A community, no matter how big or small – can make the most extraordinary difference in your lives and I am so happy to hear that you found one. With all the clinical, medical mazes we run through as families, we often believe we are running those mazes alone. The idea of ‘community’ is such an important and emotional part of livelihood and so to find out that you’re actually running the maze alongside someone else makes the biggest of differences. Thanks for providing those links to other beautiful kids who have GRIN1 in this world. You have an incredible family and I am so happy for you all! Laura is an incredible mom and I have the privilege of knowing her and learning from her through Holland Bloorview – I am sending the biggest of hugs and wish I could see her right now to give her one in person! Take care everyone!!

    Reply

  2. You and Laura make us so proud as your parents and parents in law. We are all blessed to have Bryson in our lives – he has taught us so much in such a short time. This is what you have been searching for so long – a community. Your new community may grow and with it a stronger will to identify and help those with GRIN1.

    Reply

  3. FINALLY a diagnosis that you can conceptualize and hold on to! All those questions, the searching, the setbacks, so much work and perseverance went into getting the answers.

    I had the privilege of meeting your family over the years through Laura, when Bryson was much younger and you starting the journey of trying to figure out what made Bryson tick. Thank you for sharing your journey and wishing your family the best moving forward.

    Reply

    1. Hi Geoff. We don’t have many more details about GRIN1 at this point. Are your daughter’s symptoms similar? We had several one-off genetics tests and a microarray test which all found nothing. It wasn’t until the full DNA sequencing that the cause was found. Feel free to reach out directly if you want to chat further. keith (at) outfrontstrategic (dot) com

      Reply

  4. Keith, this is such a wonderfully written blog. It has been my privilege to know you and I remember when Laura reached out to me several years ago when I was still at Johns Hopkins in Baltimore and when I finally met you, Laura and Bryson after I moved to Toronto. The fact that we have now been able to make a diagnosis is also quite gratifying to me and it has been very humbling for me over the last couple of years to see how powerful it is to establish a diagnosis for a family. Your statement that Bryson is perfect is the most powerful sentence of your blog! While you are right, we still don’t know much about this condition, but I am looking forward to learn more about this as we continue our path forward together.

    Reply

  5. Keith,
    I am so happy to have found your blog! My husband and I have 2 year old triplets, all girls. Two of them are identical twins and there’s a fraternal sister as well. They were born at 32 weeks and the twins have had severe delays since birth. The fraternal sister has developed normally. They did the micro array testing on the twins when they were a few months old, but nothing came back. For two years we have been in an out of doctor’s offices, but no one was able to give us an affirmative diagnosis or explain the cause of their delays. They simply labeled them as having Cerebral Palsy. Back in August, the geneticist told us about the whole exome sequencing test and we decided to have it done on one of the twins. When the results came back in Mid-January, we were told the diagnosis was GRIN1 Related Disorder. The genetic counselor told us that only about 10 other people in the entire world have this diagnosis (that have been tested so far) and said that it would be difficult to connect with other families. The other twin is having targeted testing done now to affirm that she also has GRIN1 disorder, but since they are identical and she has the same symptoms as her sister, it is already almost definite. The testing just makes it official.

    Like Bryson, our girls have the intellectual delay and low muscle tone. They also have spastic, random movements in their arms and legs. They don’t eat well and one of them has a G-Tube (the other will likely be getting a G-Tube in the near future because she is not gaining weight.) Both of them have been labeled “Failure to Thrive” due to the feeding problems and slow weight gain. They are not rolling over or trying to sit up yet. As of right now, they are on the developmental level of a 3-4 month old. Like your wife, I also felt that their issues were caused by something I had done while pregnant so I completely understand how she felt. It was a huge weight off my shoulders to learn that this could not have been predicted or avoided. I would love to connect with you and any other families that you know who have a loved one diagnosed with GRIN1 Disorder so we can learn more about it together. You have my email so please feel free to contact me!

    Reply

  6. Hi Keith. I was so excited to come across your blog. Our stories sound very similar. My son was diagnosed with GRIN 1 about 1 1/2 years ago. You mentioned being part of a community on social media. Could you please give me some more information. I would love to join!

    Reply

  7. My 18 month old daughter just received GRIN1 diagnosis. Any advice? Is there a support group/website that I can get more information?

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  8. Hello,

    My relative new baby, (1 year now) has been diagnosed with Grin1.

    It worm my hart and give hope to see Bryson is developing and all the things you do with him 🙂
    I would like to know more about the symptoms, development and expected life span.
    Is it possible to contact you directly by phone or mail? Do you know of other information sources I can look in?

    Many thanks and good luck
    Moshe

    Reply

  9. Hello
    I am the mother of a little girl of 7 years. After years of research we have been through a genetic study put a name to the difference in our daughter GRIN1
    As you this diagnosis has changed many things in our lives.
    Have you an email address to communicate together?
    I will be happy to join your community and be able to talk with the few families that made themselves know through your site. Do not hesitate to contact me.

    Reply

  10. la mia bimba ha otto anni e abbio ricevuto oggi la diagnosi di mutazione GRIN1 e non so nulla di tutto questo potete aiutarmi a capire meglio come evolverà?!! grazie!!

    Reply

  11. sono la mamma di una bimba di 8 anni che ha ricevuto oggi diagnosi di GRIN1 potreste aiutarmi a capire ….qui in Italia danno pochissimo su questa mutazione grazie di cuore!

    Reply

  12. Thank you so much for sharing Bryson’s story. My 17 month old son was recently found to have the GRIN-1 defect as well. I have found prayer and focus on a God who can do anything to be the biggest source of strength and hope. I find Dr. Caroline leaf studies as well as the Anat Baniel method very helpful as they focus on stimulating the brain and focusing on building on the child’s strengths. I hope we can encourage and help each other on this journey. God bless

    Reply

  13. Our Daugther Lara,5 y.o. just got from London the diagnosis of Grin 1 desease.
    She,, does’nt walk and speak, has ricorrent seizures, intellectual disability and hypotonia of trunk and neck and hypertonia of arms and legs.
    May I get some information on topics.?

    Reply

  14. My son, who is currently fifteen also has Grin1 type8 disorder. He was diagnosed with this disorder about a year ago. It is and has been a journey. My son is the happiest boy when his stomach isn’t bothering him. His disorder gives my family many obstacles, but also much love and happiness. I wish you and your family happiness!

    Reply

  15. Hi there! How wonderful to find this blog entry! Just today my daughter Kaitlin, age 10, received the GRIN1 diagnosis on her exome sequencing test. She is impacted significantly in all areas of cognitive development, but is mobile. She has seizures and low tone, as well as sleeping issues. Would love to connect with some of the families that have responded here!

    Reply

  16. Hi Keith and Laura, Two days ago we found out our daughter Sofia has GRIN1 diagnosis. Sofia is 16 months old with severe hypotonia. I am taking her to swimming lessons 6 times per week. She does physical therapy and occupational therapy for a year now. She does not have seizures and has normal MRI’s. Do you know of any support group? We are in California. And any additional information would be great. Thank you so much!

    Reply

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