A Father’s View – By Peter Kraft

Greetings Angleman community and all the readers of “Angelman Today”. I would like to thank Liz Sordia for stepping out and showing leadership by creating this periodical to bring us all closer and help us find ways to meet our challenges that will maximize our Angles’ potential and the opportunity to share with you the experience of the moment I and my wife learned that Max had Angelman syndrome. 

I am a Dad of a 12yr old Angel named Maxent. Max has two brothers, Charle, age thirteen and Tristan, age eight.

It is a day I am sure all parents and families remember like yesterday, a mark of a journey that is remarkable.

Maxent was born November 5, 2001. He was due the second week of December but he decided he did not want to wait that long. Our family was in the midst of quite a bit of chaos as the events of September 11 had just disrupted our lives. I work in the financial markets and my office was 1 block from the World Trade Center. I was displaced from my job as a result of the horrible events of that day.

Our family is very blessed that this is all that occurred to us and our prayers are with the many friends and associates and victims we lost. May peace always be with them and their loved ones.

My two partners and I were lucky enough to find an opportunity but it required us to relocate to Irvine California.

In the meantime, my wife Sybille and 16 month old son, Charle moved to My Mother’s house in Delaware. We figured I would get a feel if the company was a good fit for the family and if it was, we would move everyone out after Sybille gave birth in December.

Two weeks later Max made his big debut! As a result of his impatience (6 weeks premature) Max needed additional care and was rushed from the birthing room to a neonatal unit (12miles away accompanied by a police motorcade). Eleven days later on the way home from buying groceries with my Mother driving, Sybille and the boys were rear-ended. Max had his second ride in an ambulance to the ER and was released with “no apparent” injuries.

Meanwhile things in Irvine were going well and I was hunting for an apartment to call home. Sybille and the boys arrived the first week of December. Five days later Max was in the ER diagnosed with pneumonia and needed to be admitted as he required oxygen to keep his saturation level normal. Max’s pneumonia slowly cleared up but his saturation level remained low requiring him to remain on oxygen.

   He was tested for a plethora of diseases and conditions but nothing appeared. A lung x-ray revealed his right lung was partially collapsed. His hospital stay lasted approximately 3 weeks. He returned home where he required 24hr oxygen until his saturation level returned to normal.

   In the following weeks regular follow ups with the lung specialist and an ultrasound test reveled Max’s right diaphragm (muscle at the base of the lung that fills and dispels the lung with air) partially paralyzed. The recommendation was to stay the course and hope the diaphragm proved strong enough to perform its duty as Max developed.

After five months and little change Max needed surgery on his lung called a diaphragm plication which now keeps his lung permanently open and close to full capacity. On the downside the diaphragm does not function properly. As a result Max struggled with any small cold or infection quickly turning into pneumonia making him a regular at the ER over the next year. We traded our oxygen tanks for a nebulizer and became breathing treatment specialists.

Time marched on, we returned back to NJ. Max was growing well as we managed his breathing issues but Sybille noticed he was missing some basic milestones. We spent the next few months in and out of specialists’ offices and were receiving a similar response, “Max is doing as well as you could expect given all he has been through, it is not abnormal for him to have some delays.” One of the last neurologists we saw suggested we get a genetic test which had also been suggested earlier by our pediatrician. This is when things changed with our Doctors’ visits. We had become very accustomed to having trouble scheduling appointments with specialists as well as having long waiting room visits only to feel rushed when we spoke to a Doctor who assured us everything was fine.

The visit with the genetic “team” was very different. For starters when we arrived they offered us a cup of coffee (Sybille told me after the appointment she knew immediately we were in for it!). When we were invited into the office, it was a large room with a big table where three people were seated not including the Doctor who escorted us in. That’s when I recall muttering, “uh-oh” under my breath as the hairs on my neck stood straight up.

Introductions were made while we braced ourselves for what we were about to learn. “Mr. and Mrs. Kraft, we have the results of Maxent’s genetic test and have found we have an explanation as to why he has been running into some developmental delays…….Max’s results reveals he is missing a part of gene #15 which we know to be the genetic disorder called Angelman Syndrome…..” Freeze frame!

Silence hit my brain despite seeing and watching more information being presented to us through the moving lips of the other specialists. Shock , fear, denial all rushed into me simultaneously as the jumbled murmurs of medical terminology rolled out of their mouths like fire balls torching from a fire breathing dragon.

When I finally heard English, “do you have any questions….”? That’s when my most amazing wife without hesitation started belting out questions that doused the flames from the evil dragons to bring some order back into my panicked mind.

“Does he have a normal life expectancy? Is it a degenerative disorder? Will he need surgery? What kind of therapy will he need? How do we get it?”

She immediately grounded me and brought sense into the shocking news we just were presented.

The genetic counselor, in a soothing voice asked me, “Mr. Kraft, I know this is a lot to take in, what are you feeling….?” I thought for a second and was completely blank, I fumbled out something like, “I don’t know yet, you just told me my child is handicapped”.

In hind sight I should have pointed to my wife and said…..ASK her SHE’S IN CHARGE!” It was shocking news to say the least. It’s a day I’m sure we all remember well but I will never say it was a bad one because our Angels are an amazing gift.

Sybille came home and charged to the internet and got to work while I broke the news to my family. I remember clearly the awesome welcomes Sybille found from our fellow Angleman parents on the internet, practically congratulating us! Bracing us for the road of eye gouging, hair pulling, pinching and slobbering we were on our way to travel.

It’s not an easy road we travel but it sure is fun! We have learned some much taking care of Max. All the Angels out there are an amazing force of love and goodness. We are all blessed to have them. We as parents have to keep up the good fight to keep them safe and on their road to reach their maximum potential. Thanks to Angelman Today we can share our experiences and tricks that will keep us on that road.