Paré family and Pompe disease

      January 21, 1991 changed our lives forever. We adopted Trevor, he was born September 28, 1990. This made him roughly 3 1/2 months old when we adopted him, we were told by the social worker that Trevor had a heart murmur and a slight cleft palate. This was no big deal we could handle this, we could handle anything. Andy and I (Linda) had been married for 13 years, Terina our daughter was 6 1/2 years old (also adopted), now our family was complete. We headed home.

      Within a week or so, after bringing Trevor home, we knew that something was not quite right with Trevor. He felt like he was a water baby, he had no muscle tone. I took him to our family doctor and stated my concerns. Our family doctor agreed with me that there was something that was not quite right with Trevor. I was told to take Trevor to the pediatrician that had seen him in Calgary, prior to us adopting him.

       The appointment was made, but we could not see the pediatrician for about a month down the road. The wait seemed to take so long because I knew something was wrong with my baby. The day finally came, Trevor and I headed to Calgary. I was finally going to find out what was wrong with my baby. Instead of finding out what was wrong with Trevor, the pediatrician accused me of neglecting Trevor because he was adopted. I was devastated. How could this be happening, I loved him with all my heart? I would never neglect either one of my children. My heart was so heavy, I still had a two hour drive home. I pulled myself together and headed home. On the way home I decided that I would go directly back to our family doctor who knew me and knows that I would never neglect my children. I walked into the doctors office and lost control, I started to cry and I was put into see the doctor immediately. I was reassured that there was something wrong with Trevor and it was definitely not neglect. Right there and then another appointment was made with a metabolic doctor.

     Again it was a month down the road. Knowing that something is wrong with Trevor and not knowing what it is, was so hard. We were living with the possibility, that we were doing something wrong that we should not be doing and possibly making things worse. Or that we should possibly be doing something else that would help Trevor. Another hard month.The day came. Back to Calgary. Andy took time off work so we would face this uncertainty together. The doctor came into the little room that we were placed in. He immediately examined Trevor, said very little and ordered blood work. We were told that the blood work would be back from the lab in about a week and we would be phoned to reveal the results. We were phoned, not to reveal the results but that we had an appointment the following week and make sure we came together. Another long wait.

     Into Calgary, to be told that it looks like Trevor has Duchenne Muscular Dystrophy because his CPK in his blood is so high (3500+++). To be certain they would like to do a muscle biopsy. We agreed. Trevor was hospitalized the following month for a muscle biopsy. The muscle biopsy was performed and read in Calgary. We were then told that Trevor has pompe disease type 2a. We were also met by a social worker who stated, “That we could give Trevor back and wait for the next healthy baby because we were excepted for a healthy baby.” We turned her down flat, our family became closer then it had ever been before. Because of the severity of the diagnoses the doctor wanted blood work from Trevor’s birth mother. She turned us down flat. This meant that there was no way to double check the diagnoses unless Trevor had another muscle biopsy, liver biopsy and a skin biopsy. We needed to make sure that it was pompe disease that we were dealing with and not something else. The day was booked for the surgery. Back to Calgary for routine surgery.

      This surgery was not routine, we just about lost Trevor. Wespent a week in ICU. Our little angel from heaven did not leave us. We were told to take him home and love him that he would not be with us long. We took Trevor home loved him and worked with him. We exercised him and exercised him, about eight hours a day. We tried to find information on pompe disease, at that time there was not to much. We felt so alone. We were not sure if we were doing the right thing for Trevor or not. We kept exercising him because we were not losing any ground, we were gaining.

      The biopsies were sent to the States. A few weeks went by and we got a call from the doctor in Calgary, he said, “The biopsies that were sent to the States thawed in transit and Trevor would need to go though the biopsies again.” I gasp and told him, “ I am not stupid and knew that they would never send everything to the States and to use what they had!” To my surprise, he said, “OK”. The results came back from the States giving the diagnoses of pompe disease type 2b, but not totally 2b, because of the heart involvement Trevor has, Trevor is in some gray area. Over the first two years, Trevor suffered pneumonia several times. The worse being when he was about 18 months old. This is the time I had to fight the hardest to keep the doctors from putting in a tracheostomy and everything that goes with it. I was told Trevor would die if I didn’t let them and that they could bring in three doctors that would over ride my judgment. I stood my ground and Trevor still has no tracheostomy or anything else. Shortly after Trevor’s second birthday, I heard about a vaccination that would protect against several strains of pneumonia. We got the vaccination for Trevor and he has not had a reoccurrence of pneumonia. As well we know more now and do not leave anything to chance, we treat everything as serious.

      Dealing with pompe disease is very serious, anything can change your life at a moments notice. Remember, Trevor still has a cleft palate, that has not been repaired. We are faced again with a dilemma, do we have it repaired or do we leave it. Trevor is just over two now and doing quite well. He is walking and enjoying life, but his communication is limited because of his cleft palate. Plus, he chokes very easily. We decided to have the palate repaired to give him the best life possible. I questioned our decision many times when Trevor lay in ICU fighting for his life, all because we decided to have his palate repaired. I would never have forgiven myself if something would have happened to him. Our miracle baby came through again for us. Everything that Trevor does amazes his doctors, Trevor did not needspeech therapy after his palate repair, everyone needs speech therapy after a palate repair we were told, not Trevor.

      Trevor is truly a gift from heaven. We continued to work with Trevor by following our gut feeling, listening to what Trevor is telling us. August 1998, I took Trevor to New York to see Doctor Slonim against Trevor’s doctors will here in Canada. That is when we realized that Trevor had put himself on a high protein diet. Doctor Slonim increased the amount of protein and fat in Trevor’s diet, cutback on the carbohydrates. Trevor then gained some weight and grew. He is still very slight for his age. Trevor will be 12, September 28, 2002, he still continues to amaze us and everyone that knows him. Certain tasks as simple as walking, getting off a chair, picking himself up off the floor when he falls, dressing himself, getting off a toilet, are getting harder or even impossible to do, but he never complains. Trevor shows people what life is all about.

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