Richie was born full term on Monday September 4, 2018. It was heartbreaking that holding him and attempting everything possible to help soothe him didn’t work. He would inconsolably cry for hours daily. Some days were better than others that’s for sure, but I knew right away that something wasn’t right. Something was causing him to be uncomfortable and my fear was that he was in pain. Sleep was the biggest challenge for the first 2 years of Richie’s life. He arched his back and flopped around a lot. Richie wasn’t hitting most milestones so at 9 months I enrolled him in early intervention. The Early intervention therapists are amazing.

One of his first PT therapists in NJ observed Richie and introduced us to the world of neurology thinking maybe he had a neurological issue. That suggestion opened us into the developmental pediatrician’s office and more evaluations. Richie’s first diagnosis was hypotonia.  Richie was delayed in all developmental milestones of sitting without support, walking, reaching for and grabbing objects, picking up small objects, and speech.  Results of a Childhood Autism Rating Scale indicated that Richard falls within the severely autistic range with a score of 38. I pushed hard for the Autism diagnosis.

The autism diagnosis really helped us find the most amazing people who continue to support and guide us on our journey.  Neurology testing included MRI’s, an EEG and lab work. Everything came back normal. Next step was genetics which introduced us to Children’s Hospital in Philadelphia.  This was right around when COVID started, and Richie was off from daycare for about a month. In that time together we had zoom therapies which was challenging but Richie started crawling more like bunny hopping around and started sleeping better. He was now able to move around and have independence. He was attending 7 therapy sessions a week through early intervention and outpatient rehab. Little by little he was making so much progress and a lot happier. In May of 2020 we had our virtual genetics appointment with the Children’s Hospital of Philadelphia. They ordered a whole bunch of testing and took our gene samples and a month later the results came back, and we had another virtual appointment with the Mitochondrial specialist doctor.

That call changed our lives forever and brought us even closer to God.

We have a 99% diagnosis – mitochondrial disease, specifically ECHS1 deficiency – the body has trouble processing protein correctly and ultimately your essential organs will start shutting down. The doctor predicted Richie will land in the middle of the road and said his life expectancy is somewhere between 3-8 years old. I couldn’t believe what she was saying. We went to every doctor imaginable, ophthalmology, cardiology, neurology, gastroenterology, and genetics. Our sign of hope was when his bi-annual blood work started to show positive movements. This coupled with Richie’s personality and progression gave us so much hope and gave us strength to never give up.  We got up every day and lived, we went outside a lot, Richie got a walker, we spent a lot of time in the stairwell of our apartment practicing steps.

Richie goes to a normal daycare, he has ABA therapy (1:1 all day with him) and PT, OT and speech therapy. The therapists help educate and push us to do some work and Richie continues to amaze us. We talk to him like an adult. He understands a lot more than we realize and he is loved by so many.  In December 2022 we had our in-person appointment with the Mitochondrial Doctor at CHOP who suggested we reanalyze his genetic testing results (DNA and genome sequences). She was amazed with his progress and removed the ECHS1D diagnosis and said he will be in her care as a Mito case.  

On January 20, 2023, Richie was diagnosed with GRIA3, an X-linked intellectual disability due to GRIA3 mutations.  We were told this genetic disorder is extremely rare and at that time there were only 39 known cases worldwide.  Symptoms of the disorder include intellectual disability in males with additional findings of seizures, autism spectrum disorder, bi-polar disorder, self-injurious behaviors, dysmorphic features, macrocephaly, and short stature reported in some individuals.  GRIA3 related disorders appear to be static rather than progressive or neurodegenerative, therefore regression or loss of milestones he has achieved are not expected.

Richie inherited GRIA3 from me.

The good news is we now know the name of what Richie has been living with and can continue our fight. I had trouble accepting this diagnosis and needed to educate myself and we needed to connect with the right team of doctors. The first neurology appointment was heartbreaking mainly because they weren’t educated. We landed at CHOP and the appointment gave us so much hope. Richie continues to make progress, and we have met some amazing people that have opened their arms up to our family and are making a difference in our lives.

In February 2023, Richie’s neurologist at CHOP reported that he seems to have a milder phenotype of the GRIA3 variant as compared to individuals in the literature. Richie has never had seizures.  He does have staring spells which are easily interrupted and are very likely behavioral in nature.  He feels that there is a low likelihood that Richie will develop epilepsy at this point. Richie wears orthotics and is walking independently.  He is also able to walk up and down steps independently.

Richie is not only walking, but also running, and learning new and exciting things daily. He has an amazing team of doctors, and takes PT, OT, and speech therapy along with his 1:1 assistance with Team Counseling Concepts. He attends a normal daycare, The Learning Experience and on most days, he loves going to school!

Riche is very determined when he wants something. He is affectionate, loves tickles, clapping and vocalizations. He loves car rides, water and being outside. Richie displays aggression towards others in the form of hitting, throwing, hair pulling and biting when asked to do something he doesn’t want to do and when denied access to something he wants. Richie uses PECS, some signs and an AAC device to communicate his needs.

We are learning how to live with GRIA3. Wrapping him up like a burrito when his aggressive outburst occurs has become normal for us. His mood can flip in an instant. I’ve learned to react less and distract more. It’s an unimaginable feeling when doctors say they don’t have any answers about our future. The doctors at CHOP spoke very highly about this amazing foundation which was founded by other families living with GRI disorders. We are so grateful for this community who understands. I am so grateful for my Richie, he truly has changed my life in the most beautiful way.

CUREGRIN has given us hope, comfort, a sense of belonging and truly empowered me.

We live in the moment, we cry hard and laugh even harder, we watch the same episodes of wheel of fortune and jeopardy daily, we are loud and make scenes in public and we love hugs. Most importantly we are grateful to be alive.

We will never give up fighting for a cure.

With love,

Patty & Richie Sanders

Special shout out to Team Counseling Concepts – Nadine, Beth, CeeCee, Reema and Jacob and The Learning Experience – Ms. Gwen and All of the teachers that work in the Macungie, PA location.