Our son BartJan was 6 weeks old (born 14-10-1998) when we heard the diagnoses ”Pompe´s disease”. The doctor didn’t trust some signs BartJan was showing and did some tests to find out what was wrong. Our world collapsed when the seriousness of this disease sank in with us. We had not noticed anything about him ourselves; he was breastfed, growing well and was a sweet baby.
A few weeks later we met dr. van der Ploeg in Rotterdam, who told us of the trial she wanted to start. We had so many questions no one could answer, because patients had never used the new drug and so much was not yet researched. A lot of unbroken ground!
In January of 1999 the phone call came. BartJan could participate in the trial. We were relieved that it would finally start and we no longer had to wait, but at the same time very scared for what was to come. Afraid BartJan would be in pain or would be allergic or maybe sick every week or nauseous. The first 6 weeks went well, so well that the 7th infusion could be given on the ward. Then it went very wrong. BartJan had a reaction to the drug. He became beet red and his saturation declined enormously, a moment in which we thought we might loose him. We were terrified. The infusion was stopped and BartJan went to the Intensive Care where he recovered reasonably quickly. After a few months dr. van der Ploeg had the allergic reactions under control and since then he endures the infusions excellently. In October 1999 BartJan celebrated his first birthday. He could roll over, sit up and even stand up! His first birthday was celebrated extensively!
In December, BartJan was 14 months old; we heard that he is very hard of hearing. Most likely a result of Pompe´s disease. Another big disappointment and big worry. What little confidence we had in the future evaporated. In March 2000 BartJan received hearing aids. The adjustment went fine. At 15 months we had a milestone BartJan could walk.
Meanwhile BartJan is a happy 4-year-old toddler. He was in the toddler group for hard of hearing children and now is in a school for physically disabled children. He is physically not as strong as healthy children but he manages okay. He is fine with the weekly visits to Rotterdam (as long as there is no taking of blood involved).
Now that the transition to the new CHO product is eminent we are afraid again for what the future will bring for our son. He has fought so hard and achieved so much and has so much to loose. It is wait and see all over again.
The first year was heavy, very heavy. If nothing would had been done our son would have died. The development of the drug took 30 years this would be the first test (BartJan was literally a guinea pig). He was the first human being to receive the drug. Our feeling was only fear and hope. Very important to us was good support by the Pompe Team, but even they could not answer all our many questions. Not participating was not an option for us. The treatment in itself is not uncomfortable or very painful (with the exception of the pricking of the porta-cath). BartJan has his 3rd porta-cath at the moment. He has adjustments in his shoes (he has orthopedic shoes), but still falls many times a day. Walking has not improved the last 2 years but it is not getting worse either.
The unexpected hurdles like the threatening bankruptcy of Pharming and the smaller dosage Genzyme prescribes brings us uncertainty and fear again. The last 2 years there are always uncertainties that are answered late or not at all. The transition to the CHO medicine in April worries us because already transferred children have lost their stable line and have turned in (lost) functions. Our family experiences the enormous psychological tension that comes with the fact that we have a son with Pompe disease and the thin line he is walking. We also met other parents while BartJan was on the Intensive Care Unit when he was very ill. Beforehand we didn’t realize what an impact the ICU had on us. We saw children with other diseases dying and parents with grief. These are experiences we never had before in the world outside the hospital. Now we suddenly were part of it. This certainly was also very difficult to cope with.
The treatment has become part of our lives. You get up with it and go to bed with it.
Fear for the future will remain because we are the first in this process.