Ready to play ball!

Caleb MacKay

First post: Jan 13, 2016 Latest post: Jan 11, 2021
Welcome to our CaringBridge site - we've created it to keep friends and family updated on Caleb's on-going struggles and compile all of our medical updates in one place.

Caleb is our adorable 9-year old middle child. He is a sweet, relaxed, and typically happy, go-with-the-flow kind of kid. He has a big sister Lilly (12 years old) and a baby brother Austin (3 years old), and a sweet service dog, Kip (a red golden retriever who is 5). Mom & Dad (Cassidy & Todd) have learned how to become caregivers and advocates, and are honing our nursing skills on a daily basis as we care for our medically fragile child. 

Caleb currently suffers from an extremely rare (less than 20 known to date) degenerative neurological condition caused by a mutation on his IRF2BPL gene. This condition caused him to go from a typically-developing 2 year-old to a nonverbal, wheelchair bound 6 year-old with no gross motor skills, no fine motor skills, no ability to eat, or toilet, or do anything independently. He has a feeding tube and receives all of his nutrition and medicine via the tube. He has developed a seizure disorder. He has symptoms such as ataxia, dystonia, chorea, spasticity, strabismus (crossed eyes), reflux and vomiting, constipation, trouble managing secretions, and worsening respiratory issues. This condition is, quite frankly, terrible. No one wants to see their child go through this. 

Despite all of the challenges, Caleb remains remarkably content. He loves his family, loves watching his favorite tv shows and movies, loves the pool, loves Disney World. 

Our medical journey to get to where we are today has been a long and tricky one (but honestly, given how rare his condition is, we are very lucky it was not significantly longer). You can read more specifics from our on-going medical journey via the various journal entries noted below by scrolling to the dates indicated below: 

2 years old
- Summer 2013 - 2 years old - began showing unsteadiness on his feet and clumsiness; first consult with PT 
- Fall 2013 - first consult with Neuro - at this time PT and Neuro believed he just had loose ligaments and low tone - continued PT 

3 years old
- 2014 - continued loss of gross motor skills, loss of fine motor skills begins
- Winter 2015 - developmental assessment via school system showed a failure of gross and fine motor and slightly below normal in speech 
- Winter 2015 - consult with Orthopedist 
- Winter 2015 - begin OT services

4 years old
- Spring 2015 - lost all ability to walk unassisted; began using a walker
- May 2015 - first appointment with Duke Neuro
- Summer 2015 - first significant battery of diagnostic tests: all came back normal 
- August 2015 - first appointment with Duke Genetics - admission to research study to map his genes via whole exome sequencing 
- November 2015 - consult with speciality movement disorder PT clinic in Richmond
- December 2015 - lost ability to use walker fulltime; began using wheelchair 
- January 2016 - consult with Ataxia Clinic at Johns’ Hopkins

5 years old
- Spring 2016 - lost ability to sit independently 
- 2016 - continued loss of what little speech he had acquired - only a few phrases still intelligible 
- Summer 2016 - difficulty sleeping - waking multiple times/night; first visit with Neuro sleep specialist 
- July 2016 - follow up with JHI
- August 2016 - received whole exome sequencing results - nothing found 
- Fall 2016 - referred to the UDN and got accepted 
- Fall 2016 - Complete loss of speech - only sounds
- Fall 2016 - Winter 2017 - diagnostic testing via UDN (lots and lots of blood work, urinalysis, MRI #2, lumbar puncture, skin and muscle biopsies, a repeat of the gene sequencing, 

6 years old
- Spring 2017 - begin having issues with Dystonia & Spasticity - that will worsen throughout 2017 and into 2018
- April 2017 - g-tube placed 
- May 2017 - received tentative diagnosis: IRF2BPL-related condition (1 of 6 in the world at this time) 
- June 2017 - developmental assessment done (via “pointing” with his hand) - tested in normal range cognitively 
- Summer 2017 - increased issues with vomiting
- Fall 2017 - increased issues with drooling/secretions
- Fall 2017 - gradual switch from Pediasure to Nourish - improved reflux / vomiting
- Fall 2017 - lost all head control 
- November 2017 - noticed some curvature in his spine - saw orthopedist re: back brace
- November 2017 - update with UDN geneticist 
- January 2018 - first hospitalization - respiratory issues; weight down to 40lbs
- Winter 2018 - increased difficulty with deliberate arm movements 
- February 2018 - started seeing new palliative care neurologist at Cone
- March 2018 - self-corrected his positioning so don’t have to use back brace at this time
- Spring 2018 - got secretions under control (improved vomiting significantly)

7 years old 
- April 2018 - began having seizures
- April 2018 - strabismus surgery 
- April 2018 - switch schools to Gateway (special needs school) - wonderful change
- May 2018 - update with UDN geneticist 
- June 2018 - weight up to 48lbs!
- Summer 2018 - first paper from UDN published on IRF2BPL 
- Summer 2018 - Fall 2018 - remains relaxed (yay!) but increased trouble with vomiting (boo) 
- August 2018 - began feeding via a feeding pump
- Fall 2018 - increased secretions causing additional gagging and coughing
- Fall 2018 - constant management of feeds, constipation, secretions, and vomiting
- January 2019 - first round of botox for feet 
- January 2019 - 2 major seizures requiring diastat  
- February 2019 - ER visit for abdominal issues - major constipation 
- Winter 2019 - better feeding routine and less vomiting - weight up to 53lbs!

8 years old 
- April 2019 - first hospitalization - pneumonia from a respiratory virus
- April - May 2019 - new routine with respiratory therapy 2x/day and supplemental oxygen at night
- June 2019 - prolonged seizure requiring diastat
- Summer 2019 - issues with secretion management again, occasional vomiting, occasional twitching, occasional short-duration seizures
- September 2019 - botox in legs/ankles/hip and casting on both ankles to increase flexibility
- Fall 2019 - vomiting under control, weight up to 58lbs!, infrequent seizures and twitching, continued issues with secretion management, continued need for respiratory therapy 2x/day and oxygen at night (0.5-2.5L)
- January 2020 - hospitalized for respiratory virus

9 years old
- Spring & Summer 2020 - 3 separate seizures requiring Diastat 

- Summer 2020 - relatively stable, but still battling seizures, secretions, respiratory issues, and occasional vomiting - much less responsive overall (fewer smiles and laughter) potentially due to the number and dosage of seizure meds or potentially due to continued cognitive decline, but will still make eye contact and if motivated try to communicate through his eyes. Weight stable. 

- Fall 2020 - continued respiratory decline - chronic collapse in the lower left lung. 
- September 2020 - pneumonia (able to treat with antibiotics and steroids at home)
- November 2020 - pneumonia (one week hospital stay over thanksgiving) - moved to a bi-pap support overnight
- December 2020 - increased frequency of seizures - required Diastat Dec 13th and Dec 31st, and requiring more frequent oxygen support at home during the day and increased flow with bipap at night

Summary updated: Dec 2020

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