By Penny Rodenhouse
Mommy to Joseph “Joey”
PTPRT Gene Mutation, Moebius Syndrome, Tracheomalacia, Congenital Myopathy, Epilepsy, Hypotonia, Chronic respiratory failure
Born May 2022

My husband and I tried to have a baby for 6 years and were unsuccessful. Fertility testing showed we’d need to do IVF to even conceive a child. We were heartbroken but knew that God had a plan for us.  We started the journey of seeing a fertility specialist and what all we would need to do to be able to start the IVF treatments.  By this time, it was now 7 years with no luck of a blessing of our own together.

However, on October 24, 2021, our lives changed forever. I got a positive pregnancy test, and it was the day before we were approved for IVF through our insurance. It had been 7.5 years of trying at this point, and God had blessed us with our little man.  And our journey began to become the parents of the most perfect, amazing, handsome little boy in the world.

Our hopes and dreams were that God would bless us with a healthy child.  That we would not have a complicated pregnancy, and that everything would go as smooth as possible.

Things did not change until after he was born.

About a month prior to Joey being born I had a dream that my water broke while we were at church. I kept telling my husband I don’t think I am going to make it to my c-section date, and he would just laugh at me.  Well, Tuesday May 31, 2022, we went to the doctor’s office for a biophysical (an ultrasound to measure fluid) and a non-stress test.  Everything went well and he looked great on all the monitors.

We left the doctor’s office to go to church. I am assistant to the director of our R-Kids program and was helping get the classrooms ready and set up.  My husband and step-daughter they went outside to sweep up the playground. I went to check on them and when I took a step, I felt it. I told my husband that my water had broken and that we needed to go to the hospital.  He kept saying I peed on myself, but we dropped my step-daughter off at the house and headed to the hospital.

When we were getting ready to turn into the hospital the car in front of us had a license plate that said “Early,” and I knew then our little man would be making his appearance that day. And I was right!

Joey made his appearance at 8:22 pm via c-section. He was having trouble breathing, and his heart rate was only 39.  His Apgar score was a 3 (of 10).  They put him on bi-pap and his second Apgar was much better at an 8. He was immediately taken to the NICU at St. Mary’s.

By day three, he was still on the bi-pap and then started having seizures and was transferred to Cardinal Glennon Hospital for suspected meningitis. Joey then spent the next 6.5 months in the NICU not because of meningitis, but because we kept finding different things that he was diagnosed with.  The doctors and nurses had noticed that when he cried or that he had no facial movement.  They started looking into neurological genetic issues that might be causing this.  Once those came back okay, they expanded the genetic testing and did all of his genes.

We first found out that he has Moebius Syndrome, which impacts 1 in 500,000 births. With this he was not able to take anything by mouth, so they had to place a g-tube for him to get his food. 

They were also concerned that Joey was having issues with breathing still and would have episodes of blue spells that lead to him having to get a trach and be on a ventilator to help keep his airway open.  They found that he has Tracheomalacia, which is where his airway would close off.  While we waited for those results, they worked on getting him to be stable with the episodes he was having.  They weren’t sure if they were also seizures as well. 

We had a care conference in August and were told that Joey would be in the hospital for at least another 6 months to a year.  We finally got the results of his genetic testing which did reveal some abnormalities.  Joey has a mutation in the PTPRT Gene, but it is 2 separate mutations. He received one mutation from me and one from his dad. They found that there are only 4 other people in the world that have this mutation, so we really don’t know what this means for his future.

On Angel’s Wings came to the hospital in August of 2022, when Joey was 3 months old, and captured the first moment of Joey being able to go outside (in the hospital garden) and meet his half-brothers for the very first time. It is a moment that we will never forget and will hold onto forever.

By the grace of God Joey was able to get out of the NICU right before Christmas and we did not have to spend a whole year there. It was the best Christmas present ever.  As things went on as we were home, he kept getting infections and his episodes kept increasing, so they decided to do an EEG on Joey and found that he was having seizures and put him on medication to help control his seizures. The doctors also decided to check his immune system to see why he kept getting sick all the time. 

While this testing was going on Joey was still having issues holding his head up, he wasn’t able to sit on his own, and his core muscles including still his trachea were really weak, so we were referred to a neuromuscular doctor.  They ran blood tests, which were normal. They did a nerve stimulation test which came back normal, and the last thing they could do was a muscle and nerve biopsy.  Joey was then sent for the nerve and muscle biopsy.  We had to wait for what seemed like forever for the results, but found out that he may have an immune deficiency and they are checking to see what our next steps are with immunology. 

Then the hardest diagnosis finally came: Joey has Congenital Myopathy. Because it being genetic and both genes being heterozygous, they have no information on what will happen for Joey.  They don’t know if he will be able to sit up on his own, crawl, walk, potty train, get off the vent or remove the trach, and could possibly be wheelchair bound for the rest of his life.  When the doctors looked more into Joey’s gene mutation, they found that 2 of the 4 people had the same symptoms as Joey. They have now recommended Joey to the Harvard Medical Center’s Undiagnosed Diseases Network. There we will be able to see if there are more people like Joey and be able to communicate with other parents who are going through similar things as we are. We are still learning more about Joey and if there are any other things that we may have to do in the future, but we know that God will lead the way and help us through whatever may come.

Because of his trach, Joey must be monitored 24 hours a day, and has to be fed through a g-tube because he isn’t able to take anything by mouth. We go to a lot of doctors’ appointments with a lot of different specialties. And we will possibly be traveling to Harvard Medical School for his Myopathy to help with investigating his diagnosis and seeing if there are other children like him and will need to increase his therapies.  Everything has changed and keeps changing, but one thing that has been constant is the blessings God has given us. Each day is a new day, but we will see what God has in store for our little Joey’s life.

My hopes and dreams are that Joey is able to use everything that he has been through as his testimony to share the love of God and the miracles that he still performs today.

To any family out there in a situation like ours, utilize what On Angels’ Wings has to offer your family.  They are so sensitive to your child’s needs and help capture moments that you want captured but are unable to do so. Even with Joey’s medical complexities, each person with OAW that we’ve encountered has handled him with care and wasn’t uncomfortable with him. They go out of their way to make sure that it is as smooth as possible and that they get the perfect moments for you to have for the rest of your life.