We had thought our life was changing when a sonogram in 1996 revealed that Brian would be born with a bi-lateral cleft lip and palate. Our research indicated that it could be fixed soon after birth and he would be able to live a normal life. Kristen and I were prepared to face that challenge. Brian was born on May 20 of that year at 41 weeks. We were not surprised when he was brought to the neonatal ICU shortly after birth.
Shortly on, we noticed that he had nystagmus, a shaking of the eyeballs. He never reached any developmental milestones such as XYZ. We had no idea what was wrong. This was the worst part. Neither of us has a family history of neurological disorders, although I had an aunt with a cleft palate. We went to several doctors in an attempt to find a diagnosis. We were first told that it could be a birth injury due to him being born one week late and having meconium in the amniotic fluid. That could have been aided by the bi-lateral cleft palate. We also tested for a multitude of other diseases. Brian was always happy and cognizant of everything around him. He just had poor head control and couldn’t drink or eat unassisted.
Brian received physical, occupational, and speech / feeding therapy. However, none of these therapists or the physicians knew what they were treating. They just considered it to be “cerebral palsy-like.)
This continued for the next seven years. We continued with our team of doctors for Brian. We were seeing a plastic surgeon and a prosthodontist for his face, and a neurologist, orthopedist, physiatrist, ophthalmologist, gastroenterologist, nutritionist, cardiologist, as well as regular visits to his pediatrician.
Kristen gave birth on June 26, 2003 to our 4th son Dylan. Its was her fourth Cesarean section. I was excited to meet the new member of the family. I just had a feeling in my gut that something wasn’t right by just looking at him. I’m not sure if it was parental instinct or the experience at Brian’s birth which I had suppressed, but I just noticed something was wrong.
I went over to Kristen and she asked about him while she was getting her tubes tied. I told her, “I think we might have another Brian on our hands.” Her look at me said it all
Dylan went into the neonatal ICU and was discharged with us a few days later. His neurological development mirrored Brian’s, but not their personalities. Brian was a lovable child that would smile at everyone that would come up to him. Dylan knew what he wanted and made sure you knew it, and had a sarcastic smile, even at a young age.
In 2004, My son’s neurologist, Dr. Chaula Kharode, took a blood sample that was sent to Baylor University for a F.I.S.H. (fluorescence in situ hybridization) test.
We got the positive results for PMD on a Saturday. Brian and I flew to Indianapolis the following Wednesday for a meeting of the PMD Family Support group. I was surprised to see adults with the disease, and meet some of the most knowledgeable, caring, and down to earth parents I have ever met. We felt at home and relieved that it was not a death sentence.
Fast forward to the present. The six of us are living with PMD. It affects the entire family. Brian and Dylan are reliant on us for all daily life skills. They cannot sit up or eat and drink unassisted. They cannot be left home alone. Trevor works in Connecticut but lives at home to help us out. It is increasingly difficult to lift them. Durable medical equipment has been able to help especially XYZ., . Brian was also hospitalized twice in 2023 for pulmonary issues, including getting a chest tube inserted.
Brian and Dylan both attended a special needs school with Brian graduating at age 21. He now attends a day program for disabled adults. They realize they are different from the abled population but that doesn’t affect their personalities. They enjoy travelling up to their grandparent’s lake house, going to hockey games, and meeting new people.
They each have their own choices in what television shows to watch, who sits where in the van, and which setting to have the air conditioner on. They are non-verbal, but we know what they want. They definitely let us know!
We started sending them to a summer sleep-away camp for the disabled in around 2016. They love it. Dylan will let out an angry cry when we come to visit, because he thinks we are picking him up. Camping trips have to be to accessible sites, it is difficult to go to events together as a family. We are happy to send them back to camp after a three-year hiatus. The staff at Camp Loyaltown, in Hunter, New York, is wonderful. We were only worried for them the first year.
Kristen and I are realists. Any new therapeutic that comes out will probably not affect our boys, but anything to keep them comfortable and extend their lives would have to be considered. I am more concerned about future generations. PMD in the Gasperetti family will end with this generation, as we do not have the girl we always wanted.
https://www.pmdfoundation.org/blog/gasperetti-brothers
Perplexity on my part regarding XYZ.
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