So it’s been a whirlwind of a week. A week ago today we got a diagnosis for Grant. It changed everything, yet adds even more questions, since it’s more of a symptom than a diagnosis.
“Impaired coordination of movement and balance, associated with dysfunction of the cerebellum or the sensory or motor pathways connecting to it.” It tends to be progressive, but we’re hopeful that it won’t be too debilitating. While there are many types of ataxia, since some of his symptoms come and go we’re hoping that it’s Episodic Ataxia.
Best case scenario: he can have infrequent attacks of vertigo, nausea, migraine, speech difficulty, seizures, weakness, paralysis and related issues. Realistically: he has additional issues that don’t fit this criteria that lead us all to believe there is more to this diagnosis (swallowing difficulty, body temperature regulation issues, hypotonia, brisk reflexes, decreased fine motor and gross motor abilities beyond the typical episodic period, etc.).
His MRIs and spinal tap were almost normal. He has a small cyst on his spine that likely isn’t the cause of the symptoms, but we aren’t 100% sure. It seems to be a cerebellar issue.
He has periods where his balance seems more stable and he can walk while catching his falls more often than not. Yet his fine motor skills and energy have decreased in the last 5 days. He is happy and doesn’t seem like he’s in pain, yet he wakes up crying multiple times each night. He is worse when he’s tired. Mornings are filled mostly with refusal to stand or walk, barely eating, and clinging to us and his wonderful nurse, Susan. By afternoon his energy increases, as does his walking. Come evening, he wobbles and falls much more often again. During sleep, his body temperature falls to the 94-95 range despite fleece sleepers, a blanket, and a space heater.
Throughout all of this, he is still one of the happiest and sweetest babies you will ever have the pleasure of meeting. He will blow you kisses, lay his head on your lap, and stare at you with the sweetest smile. He adores his big brother, loves his puppy, and is a huge Daddy’s boy.
The next steps:
- Wait 2-3 months for final DNA sequencing and analysis results from UCLA’s Undiagnosed Disease Network program
- Meet with the UDN to review results and complete any additional testing for a 30% chance at a final diagnosis
- Additional specific genetic testing to confirm or deny that the ataxia is episodic
- Specific urine tests and possible ultrasounds to check for the presence of a neuroblastoma
- Possible CT scan to check for anything the MRI wouldn’t pick up
- Continue weekly PT and OT
- Obtain second opinion on MRI from a leading pediatric neuroradiologist
- Obtain an overall second opinion at a nationally recognized ataxia clinic
We spend each day not knowing how he will wake up…will he walk today? Will he be back to normal? Since everything changes throughout the day, we can’t take our eyes off of him. We can’t let him wander around the house like a normal toddler. He gets too close to furniture and we have to be ready to block his fall against a corner. We have to look for very specific tiny eye movements that indicate the next likely diagnosis, Opsoclonus Myoclonus Ataxia Syndrome.
We have to somehow remind ourselves that we have so much to be thankful for, that it always could be worse. We see firsthand in the hospital and PICU that there are children and families going through so much worse. So while we need and appreciate your prayers, remember also to pray for all children with debilitating or life threatening illnesses and disorders.
This network of amazing families we have connected with is unlike anything I’ve ever known. It is a family where everyone gets it. We get each other. It is full of support, understanding, and people in the same situations. So today, I am thankful for not only my family, but also my new “family” network to make us feel less alone, less paranoid, and less hopeless.
We are so thankful for the outpouring of support, prayers, love, and suggestions. Since so much changes in such a short period of time, it makes more sense to update once we have major news, which may be awhile given our upcoming timeline. In the meantime, be on the lookout for some historical entries to gain insight into where we started, how things changed, and how we deal. We dealt with this round by running away to the condo in Breckenridge – a much-needed getaway to focus on Connor, our blessings, and each other.
My grace is sufficient for you, for my power is made perfect in weakness.
2 Corinthians 12:9