Henry Wilson

First post: Jul 20, 2022 Latest post: Oct 23, 2023
Welcome to Henry’s CaringBridge website. We are using it to keep family and friends updated in one place. We appreciate your support and words of hope and encouragement. Thank you for visiting.

Henry was born on June 21, 2022; a beautiful and healthy boy. Henry underwent a newborn screening to check for any underlying genetic disorders just like any other infant in Massachusetts. Shortly after returning home, we received news that there was a flag on his screen for a genetic condition call Spinal Muscular Atrophy (SMA). SMA is a progressive neurodegenerative disease that affects the motor nerve cells in the spinal cord and impacts the muscles used for activities such as breathing, eating, crawling, and walking. It is the number one genetic cause of death for infants.

About a week later we received confirmation that our sweet boy has the rare condition of Type 1 SMA. Also known as Werdnig-Hoffmann disease, SMA Type 1 is the most common (60%) and severe form, usually diagnosed during an infant’s first 6 months. This condition occurs because there is a missing or mutated gene that is responsible for creating a protein that allows neurons to fire. Without this protein, the neurons will die off and cause physical challenges including muscle weakness and trouble breathing, coughing, and swallowing. Babies with type 1 SMA may need breathing assistance or a feeding tube. If not treated, Type 1 can be fatal early on in life. 

We quickly were connected with a care team at Boston Children’s Hospital that specializes in the treatment of SMA and we reviewed our options. Currently there are 3 treatments approved by the FDA for SMA: Spinraza, Erisydi, and Zolgensma. After discussing the pros and cons of each, we decided Zolgensma was the best treatment for Henry and our family. 

Zolgensma is a gene replacement therapy that essentially injects a copy of the missing gene into the body via a virus and the new gene will create the necessary proteins. This is a one time treatment but requires multiple follow up lab work and constant monitoring. This is not a cure as the new gene does not embed itself into the DNA and cannot replace any neurons that may have already died off. 

As we were preparing for Henry’s infusion date, we had a number of baseline labs, meetings with doctors and care team, etc. At one of the meetings, a nurse noticed that Henry was working hard to breath and we were admitted into the ICU for concerns related to respiratory distress. 

Henry was admitted to the ICU and utilized a Bipap machine for most of his day. He also used a machine called a “cough assist” to help clear any mucus from his chest and lungs. Because these both force air into his lungs, Henry was being fed through a ND tube to ensure he didn’t aspirate on breast milk from his stomach. These machines help develop Henry’s muscles to ensure that he can breathe independently in the future.

(Update 7/27) Unfortunately due to a few episodes where Henry’s oxygen levels and heart rate dipped too low, the doctors needed to put Henry on a ventilator to help him breath. The vent also allows them to suction any secretions out of his lungs to keep them clear.

(Update 8/8) The doctors were able to successfully extubated Henry and put him back on his bipap machine.

(Update 8/12) Henry received a second treatment, Spinraza. This treatment targets the backup genes, SMN2 genes; and signals for them to create the necessary motor protein. Henry will receive 4 loading doses in the next 2 months and then will require an additional dose every 4 months. This medication is given through the spinal cord so it has its risks but we are hopeful that with this medicine and the gene therapy that Henry will have the best chance at meeting his developmental milestones.

(Update 9/8) We are home!

He is getting stronger everyday and is tolerating the equipment well. 

We will continue to post updates with Henry’s journey as we receive them. Thank you for all your positive thoughts and prayers.