Catel-Manzke Syndrome: Our Journey

The road to adding John to our family was a long and difficult one. Thomas and I actually just decided to start trying right before Joseph turned 2 yrs old. Right as we decided is when we learned we were having our first of several miscarriages. We finally learned we would be welcoming a healthy child in June of 2013. Of course, we were very scared. Since we learned that I had a problem with processing folic acid. They believe that is why I was suffering from so many miscarriages. I started taking a prescription dosage to help. We still didn’t announce until after our 1st trimester due to all the heartache we had experienced already.

My pregnancy with John was pretty typical. I did have bad morning sickness, some extra visits to make sure everything was ok, and Makena shots to avoid preterm labor. The shots were due to preterm labor with Joseph, and obviously, we did not want history to repeat itself. Otherwise nothing really out of the ordinary. I craved mashed potatoes and snow cones. We did choose to not know the sex of the baby until birth. Well, it was more my desire to not know and since the doctor said: “If mom does not want to know, then I can not find out either.”

The day I went into labor, we were actually at church. Since we did not have family nearby I had spoken to one of my friends about keeping the older boys while I was in labor at the hospital. I messaged her while we were in church asking if we could take the boys by when we got out. It was actually Alexander’s, our oldest’s, birthday. So I had to take his birthday dinner of meatloaf, and his cake over to their house. When Thomas and I had arrived at the hospital, I was taken upstairs to labor and delivery. Within 4 hours of arriving at the hospital, John was here.

We were not aware of any problems through any ultrasounds or blood work. So when I had John the only thing that we noticed was his bent index fingers right away. The next day we had someone coming in wanting to do an ultrasound on John‘s head. At that point, we denied them access to John until we started getting answers on what was going on. After another 24 hours, finally; a pediatrician came in stating many concerns they had about John.

He had bent index fingers, a bubble arch, almost a cleft palate, but the muscles of his mouth just meet vs intertwine like they should, soft palate, the bones in his skull seemed to be either fused or overlapping, recessive chin, and a severe tongue tie. They were sending off blood work to rule out Down syndrome as well as many other genetic disorders.

We had his tongue tie clipped at almost two weeks old after enough pushing to get it done. We discovered John had a PDA & PFO (hole in the heart and the valve not fully closed), and severe reflux as well.

We spent the first 2 weeks in the hospital with John in the NICU mostly due to his feeding issues. He would not finish 60mls (2 ozs) within 20 mins. We had to use a special nipple with the bottle for those with a cleft palate for a while due to all of John’s latching issues with a bubble arch and soft palate.

The doctors wanted to place a g-button. When you hear words like that as a parent you do whatever you can to avoid that. We finally got John to eat in the time frame they wanted so we were discharged.

We still had weekly weight checks and even had a lactation consultant come to the home to help us with his latch to nurse. It turns out that our lactation consultant also had a history of genetics as well. She mentioned Catel-Manzke syndrome to us. She said it was like finding a zebra when looking for a horse. It was so rare that not even a blood test had been made for it yet, but he fits all the symptoms of it. We presented this to our genetics doctor. After looking up all the info herself, she agreed this was what John must have. Dr. Blazo, John‘s genetic doctor, wanted to have John put into a case study at Texas Children’s Hospital for Skeletal Dyspepsia since he also had beaking in L1 & L2 in his vertebrates with his extra bone in each extra finger. John was accepted into the case study. Dad and I had to submit blood work as well as all of John‘s medical records and blood work from him too.
In May 2014 John was admitted to McLane Children’s in Temple, Texas due to only being 1 lb above his birth weight. At that time we started a round of different things that lead to a supraglottoplasty surgery (5/6/14) and g-button surgery (5/14/14) being performed. John has severe laryngomalacia which is the larynx collapses when you breathe in. As well as many other blood tests, x-rays, MRI, etc being done to rule out so many things. Also, we were trying to find answers too. There was the talk of a possible tracheotomy, but we wanted a sleep study before making that decision.

At Home on CPAP

In August of 2014, John had a sleep study and it was discovered at the time that he had over 400 apnea events in less than 8 hours. I had traveled to Texas Children’s Hospital the day of his sleep study alone with John. The morning after we were informed that we could not be leaving and were admitted to the PICU (Pediatric Intensive Care Unit). After several conversations with his ENT via phone calls due to being unable to leave Texas Children’s Hospitals. We did a titration sleep study with a CPAP which satisfied the doctors at Texas Children’s Hospital to allow us to leave. Dr. Powitzky (ENT) & I were on the same page that we were to be taken to McLane’s Children’s Hospital for any procedures to be done by him. We had an appointment it was determined that John would need a tracheotomy.

 
In September of 2014, we started the whole road of having a trach. Back in May, Dr. Powitzky originally did not think John would not need a trach. Then the doctor did not think a ventilator would be needed. Which John proved him wrong yet again. Next test that John decided to throw the doctor’s way was adding an automatic breath rate. It just felt like every time a doctor would say “He won’t need this…” John had the thought of “I am going to prove him wrong.” I am sure most of it had to do with since Catel-Manzke Syndrome is so rare that it was just a guessing game.
In December of 2014 just as all the blood work had been submitted. Dr. Manzke & Dr. Catel, both in Germany, came out with a case study showing that the TDGS Gene was malformed in those with Catel-Manzke. So Texas Children’s Hospital tested our blood and confirmed the diagnosis with JohnJohn ended up being the very 1st in the USA to be diagnosed with Catel-Manzke Syndrome and was the youngest from the 8th diagnosis worldwide. Since then I have been reached out by 3 individuals here in the USA that has had their child confirmed with it.
June of 2015, he had his first hand surgery. Second one was July night 2015. May 2016, tonsils and adenoids were removed too. We had also had 5 sets of ear tubes over the years.

On a monthly schedule we will have speech 3 times a week (twice at an outpatient therapy center, and one through school), physical therapy once a week, occupational therapy twice a week. We will also see at least one of his many doctors/specialists. We have: Dr. Meza (pediatrician), Dr. Powitzky (ENT), Dr. Ogborn (Pulmonary), Svenja  & Dawn (Trach Specialists), Dr. Ramprasad (GI), Dr. Goad (Podiatry), Dr. Weber (Hand surgeon), Dr. Blazo (Genetics), Dr. Souder (Ortho), and Dr. Pliska (Cardio) on our team.

John has been a fighter since day one. He has overcome so much. We still obviously have a long way to come but I love taking his photos yearly with all of his equipment just to show how far he has come each year. I felt this overwhelming need to do it for his first birthday despite the comments of “Don’t do it”. I wanted to show that even though he is a tough fighter and comes with equipment, I wanted to show how far he came from this little tiny baby to a big boy. Our goal is to maybe one day we can take a “Goodbye Equipment” photo!
1 yr
2yrs
3yrs

 

 

 

 

 

 

 

 

 

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