Landon-age 4

Diagnosis-INAD(Infantile Neuroaxonal Dystrophy)

Diagnosis Found through whole exome sequencing-INAD (Infantile Neuroaxonal Dystrophy)

USA

“Landon is 4 years old now! There are no words to express how thankful we are for every year we get to spend with our sweet boy. Landon radiates so much happiness & joy. As his disease continues to progress we are unsure of how long we have with this precious boy of ours but we know without a doubt that our lives are so much better because of him, we are blessed to have Landon as our son & brother. Landon is surrounded by so much love every day, he is such a special little boy!”

Landon-INAD

For 2 years I  searched for answers for my sweet baby Landon. We  prayed, we  searched, we  hoped and now we have an answer. The results from the whole exome sequencing have come back and we have a diagnosis. Landon has been diagnosed with INAD (Infantile Neuroaxonal Dystrophy).

“Infantile neuroaxonal dystrophy is characterized by the development of swellings called spheroid bodies in the axons, the fibers that extend from nerve cells (neurons) and transmit impulses to muscles and other neurons.” –Genetics Home Reference

I am glad to finally have an answer but at the same time heartbroken to have this diagnosis. This is not the diagnosis we prayed & hoped for. We wanted treatment options, possibly a cure and with this diagnosis there isn’t even much research about it. INAD is a progressive disease effecting motor skills, cognition, vision & hearing loss. The life expectancy is 5-10 years old.

Now we will hope & pray for new things for our sweet baby Landon. We hope and pray for time, for his progression to be slow and for the research to grow to find treatment options for our son. Landon is such a special boy and blessing to our family. He has taught us more in 3 years then we could teach him in a lifetime. He is our son, our brother and our little hero.

We love our sweet baby Landon more than words could say!

Landon_____________________________________________________________________________________

My pregnancy with Landon was healthy, my delivery was uncomplicated. Landon was 9 lbs. 21 inches and 100% healthy. I felt my life was truly complete when Landon was born, I already had a beautiful, healthy little girl and now I had a handsome, healthy little boy. Landon was a typical newborn, he passed all newborn screenings, all his well-child appointments went great-he was “off the charts” in every growth category and he was developing as expected.

Around his first birthday I started to be concerned for Landon. He could roll over, sit up & crawl but wouldn’t bear weight on his legs. He also had not slept through the night & hardly took naps, Landon was tired but he couldn’t sleep – he would cry so much. The pediatrician wasn’t too concerned about his sleeping but did give us a referral to the ENT to get ear tubes placed and adenoids removed. He told us Landon was a little “hypotonic” so we started therapy at home to help with his gross & fine motor skills. By 18 months Landon was as strong as he has ever been, he worked so hard with therapy and made some progress! He could pull to stand with some help, climb up stairs, stand against furniture and even take a few steps! He still had not slept through the night, continuing to cry & scream all night. Finally we got the referral to a sleep specialist. A sleep study was ordered and we found out Landon has central & obstructive sleep apnea. He was put on oxygen at night & we were sent back to the ENT doctor, surgery was scheduled and Landon had a tonsillectomy & turbinate reduction.

Even though Landon had made some progress with therapy our concerns were growing whether something was seriously wrong, an MRI & ABR was ordered, the MRI was normal and the ABR was very slightly abnormal but we were told not to be too concerned about it. We had his eyes examined and everything looked normal. Between 18 months & 2 years Landon saw a lot of doctors (neurologist, developmental pediatrician, comprehensive care, geneticist, etc.) different tests were ordered but all his levels came back normal. At nearly 2 years old Landon was still having so much trouble sleeping and his pediatrician still wasn’t concerned, we made a great choice to switch pediatricians and with some medication Landon finally started to get a good night rest.  A month after turning 2 Landon had a swallow study done and we learned Landon had dysphagia, we started thickening his liquids.

We went back to neurology and eventually got him in to see a neuro muscular doctor, he ordered an EMG and we learned Landon had Motor Neuron Disease. Soon after getting the EMG results we drew the blood for Spinal Muscular Atrophy, it came back negative. I was very worried about my baby Landon, he had started to really regress. He could no longer stand up against furniture, cruise or climb stairs. We repeated his MRI, this time it showed his cerebellum was atrophying, we were so heartbroken. In September of 2014, at nearly 2.5 years old Landon’s dysphagia had worsened and he could no longer crawl or transition from laying down to sitting up. His G tube was placed and a muscle biopsy was done, the biopsy showed “acute & chronic neurogenic changes.” We repeated the ABR to find out Landon has Auditory Neuropathy, he is losing his hearing. We had his eyes checked again to find out his optic nerve was atrophying, he is losing his vision.

At 3 years old our wonderful sweet baby Landon had lost so much. He can no longer stand, cruise, sit up, crawl or roll over and he has lost all the words he used to be able to say. He is very hypotonic and takes nearly all his fluids through his G tube. He is losing his hearing and his vision. As time passes his head and trunk control is worsening. Despite the MRIs, EMGs, blood work, specialty doctor visits and various other tests Landon’s doctors cannot find a diagnosis. No diagnosis means no treatment and no cure. Landon’s disease is going to continue to worsen and there is nothing we do to stop it, our hearts break for our sweet boy. He has been through so much but still has the cutest smile and laughs easily. We love our sweet baby Landon so very much, he is our little hero and we are grateful to have him in our lives. We want to help Landon, first we need to find his diagnosis to better understand what is happening inside his body. It is our hope if we find a diagnosis there will be treatment options to help our little guy.

This is what we do know that Landon has:

  • Motor Neuron Disease
  • Cerebellum Atrophy (MRI @ 18 months was normal, MRI @ 27 months showed the atrophy)
  • Cerebellar Ataxia (same with above)
  • Optic Neuropathy
  • Auditory Neuropathy
  • Dysphagia (25 months nectar thick liquids, 29 months honey thick liquids)
  • Macrocephaly
  • Obstructive & Central sleep apnea
  • Hypotonia (worsens as he gets older)

Please contact me at [email protected] if you have a child with similar health concerns and can help me to find out what is happening with my sweet baby Landon. You can also read more about Landon and follow his journey at findingjoyinlandonsjourney.blogspot.com

About the author

Gina

Gina began working tirelessly as an advocate for the rare and undiagnosed diseases community several years ago after her and her family moved to Utah. She is the Co-founder and Executive Director of the Rare and Undiagnosed Network (RUN), Chair of Utah Rare, and Utah Ambassador for National Organization on Rare Diseases (NORD).

Gina is currently undiagnosed and the mother of three children with an undiagnosed genetic dysfunction. She is advocating for clinical whole genome sequencing covered by insurance companies and hopes to help rare and undiagnosed families emotionally and financially.

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