This is a summary of what happened when our daughter, Sanse L. Swenson developed gallstones and had her gallbladder removed just recently. Sanse, who is 30 years old, resides in Denver, Colorado and has classic MSUD.
The day after Thanksgiving 2000, Sanse woke up early in the morning with severe abdominal pain. She could not lie down or find any comfortable position for about three or four hours. This was about the third time she had a episode similar to this in the past several months. On one of these occasions, we rushed her to the emergency room, and although many tests were taken, they could not determine the cause of her discomfort. I felt it was time to take Sanse in again for an evaluation.
We made an appointment with a physician at Kaiser Permanente (Sanse's HMO) for a consultation. The doctor thought she either had an ulcer or hiatal hernia and prescribed a medication for an ulcer. He did recommend that Sanse have an ultrasound to further check out the cause of her discomfort. After waiting for the appropriate appointments, an ultrasound was scheduled.
On Christmas eve, we received a telephone call from the doctor stating that Sanse had gallstones, and we needed to make an appointment with a surgeon. After the holidays, (January 2001) we scheduled an appointment with the surgeon at Kaiser. He was a delightful doctor, and assured us that he had removed many gallbladders. It would not be a problem - but, by the way, What is maple syrup urine disease?
We proceeded to tell him about MSUD and the metabolic complications. We were impressed with the surgeon because he asked, What is MSUD? and Who can I talk to in order to learn more about this disease?
I told him about the Inherited Metabolic Diseases Clinic (IMD) located here in Denver and also about Dr. Holmes Morton and the Clinic for Special Children. The present staff at the IMD Clinic in Denver had never been involved in a surgery for a MSUD patient. They were extremely busy, and the doctor did not return my telephone calls.
The Kaiser surgeon asked if it would be okay to call Dr. Morton. I told him I was sure Dr. Morton would discuss what was necessary for surgery involving MSUD. I immediately came home and faxed a letter to Dr. Morton. I told him about Sanse's problem and about the visit we had with the surgeon.
Within an hour, Dr. Morton called me back. He said it was interesting to hear about Sanse's gallstones because he had been discussing possible causes of gallstones in MSUD patients with a colleague that day.
Dr. Morton asked what Kaiser and Colorado were prepared to do to take care of Sanse during the surgery. I told him I don't think they know what to do. So the next day our Kaiser surgeon and Dr. Morton talked over the telephone. Our surgeon called us and said, It is in the best interest of your daughter to go to Pennsylvania for this surgery.
Dr. Morton was so kind to invite us to come. So the process began for approvals and making arrangements to go to Lancaster for Sanse's surgery. We were so thankful!
The surgery was set for February 7, 2001. We were all scared about facing surgery, but we knew we would get the very best medical care in the world. So we were thankful, but with tears running down our faces at the same time. What would happen?
Just before leaving, we had Sanse's blood levels run. They were the highest I had recorded since 1985. We knew we were in trouble. The valine was 388 µmol/l, the isoleucine was 189 µmol/l and leucine 1163 µmol/l. I think Sanse's levels were high because of the tremendous amount of stress and perhaps the diseased gallbladder.
Dr. Morton called that evening and said the leucine had to come down prior to surgery. Dr. Morton asked what our sick day regimen was. I told him we didn't have one. The only thing we knew was to push high caloric liquids, give bicarbonate of soda (if needed) and cut back on protein intake.
Dr. Morton gave us a recipe to make Sanse's formula which included increasing the grams of dry formula mix by 80 grams for a total of 200 grams, adding 50 cc of isoleucine and 60 cc of valine and increasing the water by 22 oz. The prescribed amounts made a total volume of formula of approximately 34 oz. (We had tried the valine and isoleucine supplements a number of years ago, but we must have done something wrong, because it did not work at that time.)
On Saturday, February 3, about noon, Sanse began drinking the formula made up according to Dr. Morton's instructions. She consumed her usual low protein diet. We left for Philadelphia on Monday morning, February 5. We went to the Clinic for Special Children on Tuesday. To our amazement, after 36 hours on the sick day regimen, Sanse's leucine levels had dropped 626 points to a leucine level of 537 µmol/l! We were absolutely amazed and thrilled. We had never experienced seeing Sanse's levels go down so far, so fast, and so easy. She wasn't even hooked up to an IV.
Sanse was admitted to the hospital on Tuesday, February 6, at approximately 4 p.m. Dr. Morton said he wanted to bring the levels down even lower to prepare Sanse for surgery. The nursing staff on the pediatric ward started the IVs according to Dr. Morton's instructions. Sanse had a light meal about 5 p.m., the evening prior to the surgery. Approximately 14 hours after Dr Morton's special TPN blend IVs were started, Sanse's leucine level was 42 µmol/l! We knew an absolute miracle had transpired before our eyes. In four days time, Sanse's levels went from 1163 to 42 µmol/l.
Sanse's laparoscopic gallbladder surgery was performed by Dr. Daleela Jarowenko about 8:30 a.m. the next morning, February 7. Dr. Jarowenko met with us after the surgery and told us the gallbladder was very inflamed and contained large gallstones. We were able to see the gallstones after surgery. They appeared to be about the size of olives, and there were at least six of them. Dr. Morton sent the gallstones to New Jersey for research.
After the surgery, Sanse did not vomit. Every time she had been in the hospital previously, we held the vomit tray under her chin most of the time. That was always a very bad sign - vomiting and then seizures. Scary! But not this time.
On Thursday after the surgery, what would her levels be with the trauma of surgery? Sanse's leucine levels were 99 µmol/l! On Friday, Sanse was dismissed from the hospital and her leucine level was 211 µmol/l. On Monday, we went to the Clinic for Special Children for levels. Sanse's leucine levels were 657 µmol/l. She burst into tears because the levels had gone up. She was reassured that it was okay.
Dr. Morton explained to Sanse the reasons why her leucine levels need to be much lower than they have been previously The levels for adults should range between 200 to 500 µmol/l [2.6 to 6.6 mg/dl].
Sanse understood Dr. Morton's explanations, and she is really trying hard to maintain much lower levels. Some of the things Dr. Morton taught Sanse were:
- The high leucine levels block the other needed amino acids in her brain.
- The lower leucine levels
- Will help her to think better.
- Will help prevent her mood swings.
- Will help her sleep better.
- Should help her hair to thicken. (Sanse's hair had become quite thin.)
On Wednesday, we went back to the Clinic. Sanse's leucine level was 432 µmol/l. Sanse was smiling again. More learning. The staff at the Clinic for Special Children was so kind and accommodating to us. The rural setting was so comfortable and comforting.
We went back to the Clinic for the last time on Friday, February 16. Sanse's leucine level was 406 µmol/l - another cheer!
We had heard about other parents using DNPH, but we had never been able to obtain it in Colorado. We asked Dr. Morton about DNPH, and he taught us how to use it and how to evaluate the results. It has really helped us to gauge Sanse's levels between blood tests. I hope we can obtain some DNPH in Colorado when we exhaust our supply. The DNPH does not replace the blood tests.
Sanse has been doing a great job of keeping her levels down since returning. There have been some days when they have elevated, but we have DNPH to help us see the degree of her elevation, and we use either well, modified, or sick day regimen.
Sanse has classic MSUD and our concerns and the management of this disease are not over, but we have learned so much from Dr. Morton it has been life changing. Sanse's levels still go up with stress, diet and illness, so it is not an easy path to follow. We know God will provide us with the strength we need for each day.
We are so very grateful to the Clinic for Special Children and especially to Dr. Morton. He has been a real blessing to so many families dealing with MSUD. We thank him so very, very much.