NoahDavid's Journey
TRAPS and LM
2-3 Years Old
"Be joyful always; pray continually; give thanks in all circumstances, for this is God's will for you in Jesus Christ." 1 Thessalonians 5:9
Right before Noah's 2nd birthday, bumps started to appear on the back of his tongue. No one was sure what they were, and his ENT doctor suggested that he get evaluated at the University of Iowa to see if he would benefit from sclerotherapy shots. We had moved from Iowa to Missouri and his insurance had changed, and he got denied to go to U of I because they would not accept his insurance. We were referred to the St. Louis Children's Hospital, ENT Clinic, where we hoped that he would be able to be evaluated and treated.
Noah got strep throat in January, and his cheeks swelled up more than they ever had. His tongue was so swollen that he could barely talk. He was quickly diagnosed and put on antibiotics. He was sick for about 5 more days. He continued to have the bumps on the back of his tongue as well as a few white spots on the roof of his mouth.
The next week, we drove to St. Louis to his new doctor. The experience we had with the ENT Clinic there was wonderful. They checked him out, and noted the bumps on his tongue. They said it was probably due to the cystic hygroma. It still didn't dawn on us that this more than likely meant his tongue was involved also. Unfortunately, we were told that they didn't do the sclerotherapy treatments there, and he needed to be seen at the U of I, so we were back to square one. Another sleep study was ordered to make sure he was still breathing okay at night. The sleep study was scheduled for April. 
It seemed that he was sick constantly for the next 3-4 months. He would get a high fever and be sick for 4-5 days, take a week off, and then get sick again. We would take him to the doctor, but it always turned out to be a virus or something unexplained, so it just had to run its course. It was a long wait for the sleep study.
The sleep study finally came and went. Again, it showed normal breathing but with a slight stridor again. I commented to the nurse that oversaw the study that it was too bad that they didn't do sleep studies when the kids were sick, because that was when Noah has the worst breathing. It was very frustrating.
Following the appointment, we decided to try to get Noah into the University of Iowa again. We had been checking into sclerotherapy treatment in the state of MO, but found no one that was specialized in doing this procedure for kids with Lymphatic Malformations. We figured that surely we could appeal the decision, and they would make an exception since no one else in the state was qualified that we could find. Again, we got turned down by the insurance company.
The bumps on Noah's tongue continued to get worse. By the end of April, they were all over his tongue. He also had spots on the roof of his mouth, inside of his cheeks, and bottom of his tongue. At times they were clear colored looking "blisters" that didn't seem to bother him. They would change at times and turn white or red/purple. It still hadn't occured to us that it was LM because it looked nothing like what he had in his cheeks.
By the beginning of May, Noah slowly started to eat less. It got to the point where we had to measure out his food and write down everything he ate so that we would know how much food he was actually eating. He would take bites of food and spit them out. At first, we thought he didn't like the food he had. Then we realized that he would ask for more of the same food, chew it up and spit it out again. He just couldn't swallow it. We started to give him only soft foods, and supplement his diet with nutrition shakes.
We took him back to St. Louis in the middle of May for an appointment. No one could figure out what was wrong with his tongue. He saw 6 doctors from the ENT clinic, and 2 doctors from Infectious Disease while we were there. They checked him for everything under the sun. By the time we left that day, they had done viral, bacteria, and fungal swabs, taken 6 vials of blood for tests, and done chest X-rays. Everything came back normal except for a slight trace of yeast in his mouth.
He was put on Fluconazole for 2 weeks to treat the yeast. We also started to give him Goji juice everyday. Goji juice is a wild berry that helps support immune system function and helps with inflammation as well as many other things. His eating improved, but his tongue continued to get worse.
The last week of May, Noah got diarrea. It continued for 4 days, and he started to pass blood in his stools. We took him to the local ER, blood tests came back inconclusive, and we were sent home. The ER called us back in the next day to do another blood test, which came back normal. That night we called his specialists in St. Louis and drove the 4 hours to take him to the ER there. He was admitted upon arrival.
Noah spent 4 days in the hospital and was treated as if he had ecoli the first few days. On day 3, the stool cultures showed that he had campylobacter, a foodborne illness. While we were in the hospital, Noah was seen by several medical teams to try to find out what was wrong. He was seen by the GI team, Infectious Disease team, Rheumatology team, Dermatology team, and a few others. They concluded after getting test results back, that the diarrea was not related to his tongue problems, and was diagnosed with a lymphatic malformation in his tongue also. On day 4, he was taken to Radiology and they did another MRI. Then he was finally released to go home.
In mid-June Noah went to the ENT specialists in St. Louis and Des Moines. First we saw ENT in St. Louis. He said that the cystic hygroma was in Noah's cheeks, palate, floor of mouth, lips, tongue, and upper neck. He said that he thought it was mostly microscystic. The cystic hygroma in his left cheek goes behind his adenoid and to the parotid gland. He also said there is a large cyst in his palate that is probably macrocystic and may benefit from sclerotherapy in the future. He said he wanted to see Noah every 6 months for the next couple of years unless more problems arise. He thought we would be able to wait for a few years before he had to have any treatment.
Next, we went to Des Moines and saw his ENT doctors, one of which was Noah's first pediatric otolaryngologist. He is the doctor that diagnosed Noah when he was a baby. They said they were pleased with the way he was coming along and thought he was doing really well. He said the MRI was better than they had expected it to be. They suggested that Noah have his tonsils taken out. They said MRI showed that they were very large, and thought that Noah would benefit from having them removed. It would give him more room to breathe in the meantime and hopefully help some when his tongue is swelling. They also said that he may need to have surgery on his tongue sometime down the road, not anytime soon. It was not something that worried them, but it was a possibility.
When Noah was in the hospital for campylobacter, Rheumatology and Immunology took some blood to test him for some rare fever diseases. In August of 2008, one of the test results came back positive, and Noah was diagnosed with TRAPS (TNF Receptor Associated Periodic Syndrome). TRAPS is a hereditary autoinflammtory disease and was probably passed on to Noah because he is part Scotch-Irish. It causes a mutation in the DNA. This causes high unexplained fevers, gastrointestinal problems, joint and muscle pain, headaches, and inflammation mainly in the extremeties. We were not sure just how much TRAPS affected Noah at this point mainly due to his age. We knew that at times he did get very high unexplained fevers, but because of his age and lack of communication skills, we were not really sure how mild or severe the TRAPS affected him.
At the end of August, we went back to St. Louis and talked with Rheumatology. They told us a little more about TRAPS at that visit. At that time, they told us that Noah was the only person in the world that they knew of that had both cystic hygroma and TRAPS. They informed us that there are only about 100 diagnosed cases of TRAPS in the U.S. and about 200-300 in Europe. St. Louis, at that point, had 5 TRAPS patients including Noah. At that visit, they went over treatment options for Noah: steriods, Enbrel (etanercept), or wait and watch. The steroids and Enbrel could be prescribed to treat the symptoms and help with the inflammation. The steroids would be used when attack occurs to help with the severity, usually only on a monthly basis or less. The Enbrel is a shot given weekly, which is prescribed for arthritis patients also, to help prevent the inflammation and to help prevent plaques that can build up in the heart and kidneys over years from too much inflammation. The last option to watch and wait simply involved getting a calendar and keeping track of his symptoms.
Noah's attacks had lessened since he was in the hospital with campylobacter, so we decided to watch and wait. Because Noah has cystic hygroma, we didn't want to give him steriods. They sometimes treat flare-ups for cystic hygroma swelling with steriods also. Other than that, the effects from prolonged steriod use could cause him just as many problems, if not more, in the future. The Enbrel could give him relief from attacks and lessen the severity of attaks, but it involved giving him a weekly shot, and we didn't want to put him through that unless it was a last resort and absolutely necessary. We decided that if his attacks started to be more severe and frequent, that the Enbrel would probably be the only good option because the only treatment we could give him at home besides that is alternating Tylenol and Ibuprofen to treat fever and pain. Prolonged use of both of those could give him kidney and liver damage. So we came home and started writing on the calendar.
Noah was scheduled to have a tonsilectomy in Des Moines, IA on the day following the Rhumatology appointment in St. Louis. We had car problems after car problems on the way home from St. Louis and were unable to make it to the appointment in time. We finally decided that God just must have had a different plan for him for that day. Frustrated as we were, we decided to postpone rescheduling the surgery.
September came and Noah started having problems again. I will never forget September 10th though. That was the day Noah came up to me and said "Mommy, arm hurts." I was so happy, I almost cried. At the same time it saddened me. FINALLY! He could tell us if he was hurting! 13 days out of the last 3 weeks in September, he was having some sort of problem be it fever, vomiting, puffy eyes, tongue swelling, coughing, or arm and leg pain. We were almost ready to call the doctor and have them order the shots for us when the symptoms finally went away.
By the latter part of 2008, Noah started to have more "white spots" on his tongue. He has them all over his mouth, but they are predominantly on the tip of his tongue. It looks like a squishy white tissue, and doesn't seem to bother him most of the time. Sometimes, it bugs him and he'll try to pick it off. Other times, it hurts and he won't touch it and has problems brushing his teeth. The look of his tongue changes daily, even hourly.
The rest of the year proved to be pretty uneventful. Noah woke up with a fever only 1 day in November and 2 in December.