Aaron

Aaron is now 14 years old and in the eighth grade. Aaron was born in November 1983 after a normal pregnancy and delivery. He was a very active busy baby and toddler. He walked at 10 months and was hitting all the milestones at normal times. At 16 months he was beginning to talk normally.

At age 16 months Aaron started having seizures. He was tried first on Dilantin which did not work for him and then on Tegretol. With Tegretol we achieved excellent seizure control and he was seizure free from ages four to twelve.

He did, however, begin to have significant delays in speech related milestones. He did not initiate speech on his own. By age two he was already falling behind all our friend's two year olds. I was told that he would begin to talk in his own time. No one ever suggested that his seizure medication could have an affect on his development, but looking back it is a sedative (of sorts) and it makes sense. At age 4 I had him tested at The Child Development Center and he was accepted into their special preschool. Here he received extensive speech therapy and I heard for the first time that speech therapists see speech delays all the time in children on seizure medication from a young age. The physical therapist there also commented that Aaron's strength was not as normal as they would like, but not enough to cause concern.

Aaron's grade school years were filled with frustration for him. He was always "just a little behind", not enough to be held back, but enough to make learning difficult for him. He had his own style of learning, and it did not fit in with the way classrooms were usually laid out. Aaron was very easily distracted and became harder and harder to keep on task. In fourth grade we had his evaluated for ADD and he was placed on Ritilin. This seemed to help some, but he still struggled, and other effects began, many of which we did not notice at the time. Aaron had always been a poor eater, always eating lots of high sugar things and not liking anything that was "good" for him. I was unable to leave sugar out in a sugar bowl, as he would empty it over night. He did not sleep well and was up many nights and into things.

While up at the breakfast table this morning, December 9, 1995, he suffered what would be the first of his seizures for the day. He ended up in ER and was admitted for twenty four hours. The doctors figured he probably forgot his medication or it was due to the flu. He continued to have seizures and they continued to sedate him with barbiturates trying to control them. Most seizure medication is a barbiturate. By evening his blood pressure was elevated, he was still writhing in pain from his stomach, but was otherwise incoherent and seemed to be slipping in and out of unconsciousness. He had a least 10 seizures during that day and into the night.

The morning of December 10, 1995 Aaron's pediatrician and neurologist made the decision to fly Aaron 300 miles to Doernbecker Children's Hospital at Oregon Health Sciences University in Portland Oregon. We gathered our three daughters and headed north, praying that Aaron would still be alive when we got there. It had been extremely icy in Oregon this week and we were fearful of the roads. As we drove North it appeared that God was thawing our way, as it warmed up as we drove the roads were doing well.

Aaron spent the next three days in the PICU while the doctors there tried to figure out what was going on with him. He had no more seizures after he arrived in Portland. His blood pressure was skyrocketing, he was delirious, his blood sodium level had dropped and he was presenting with SIADH (syndrome of inappropriate antidiuretic hormone), which means he was retaining water and not urinating as much as he was taking in. They had to reduce his fluid intake several times over the course of his hospital stay. He was also lacking all reflexes, and losing weight rapidly. We dealt with a team of neurologists, nephrologist, and pediatric specialists.

On the third morning here he was deemed well enough to go onto the mail children's floor. They still did not have a clue what was wrong with Aaron and were testing everything. They wanted to change his seizure medication back to Dilantin, a move I disagreed with as it had not worked for him as a baby. They strongly felt that the Tegretol was causing his sodium problems and changed him. They pushed Dilantin into him at least twice, both times he became very sleepy and I thought his symptoms got worse.

By this time Roy and I were very frustrated with the system. Aaron was still losing weight and appeared to be getting weaker and weaker. He was not making any sense most of the time. He started getting up all the time at night and was getting unsteady on his feet.

One particularly bad night when I was staying at the hospital with Aaron, probably 8 or 9 days after he was admitted I had been up most of the night. Aaron would not stay in the bed. He made no sense, and his blood pressure was sky high. An intern arrived at Aaron's door at one am. He had noticed I was up and wanted to ask me some questions. Did Aaron often complain of stomach pain as a child? Did his skin ever blister in the sun? Had other members of either my or Roy's family ever have these type of symptoms? When I asked him why he said that one of Aaron's tests had come back "funny" and he was looking into this "rare disease". He did not want to go further into it.

The next morning I asked the resident neurologist, Dr. Egan what the heck was going on. My frustration had hits its max and I wanted answers. He was very helpful to us at this point because he took the time to sit and talk with us. He told me that they thought Aaron had a disease called Porphyria, and they were going to test him for it. I asked some questions and he answered as best as he could. I was even more confused, but happy to at least be beginning to get some answers. I went to the physician's library and began my research on Porphyria, a research which is still ongoing today.

About two days later, two days before Christmas they told us that Aaron definitely had Porphyria, but they were unsure which kind. They were going to send this specialist to talk to us. They were also going to release Aaron from the hospital the next day. Dr. Neil Buist came to see us and he was quite wonderful. He explained that Aaron had been eating sugar for years because he was self medicating himself for this disease. Carbohydrates such as sugar are actually one of the treatments for this disease. They also told us that it was not only a rare disease, but that Aaron was especially rare because he became sick at only twelve. They told us that he was made sick probably by a combination of the barbiturates (tegretol, dilantin) that he was on for seizures, hormones, and being sick and not eating. I now also know that the hypertensive medication he was receiving, nifedipine, is also on the unsafe list for porphyria.

We came home on Christmas eve and Aaron was unable to walk into the house. He had lost 1/3 of his body weight. Roy and I were scared they should not have sent him home. We took him to our local doctor who was shocked at Aaron's condition. He called Dr. Buist who recommended that we immediately begin infusions of Hematin. Hematin is basically synthetic Hem, which is the molecule people with porphyria do not make while in an active phase.

Aaron required 21 doses to stop his attack. He attended physical therapy for six months.

July 1999 I cant believe a whole year has gone by. Aaron has not had to receive panhematin treatments in a whole year now. He is no longer attending science classes in school and the school has been more careful about exposures to him with chemicals. This seems to have made a great difference in his health. He is still growing, and has now reached 6' tall and has size 15 feet. He continues to struggle at times, but his body seems to bounce back with just carbo loading, and the acute attacks have stopped. We are still careful of his exposures and take one day at a time.

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