RECIPES

Tomato Bread (low protein)

400 g wheat starch starch

1 T. psyllium fiber

1 T. non-dairy creamer

1 T. methylcellulose

1¸ t. yeast

1 T. sugar

1 t. salt

3 T. tomato paste

2 T. olive oil

¸ t. each, basil, garlic powder & thyme

² t. oregano

1¸ c. (350g) water

Combine first 7 (dry) ingredients. Add remaining ingredients and mix. Dough will be soft in texture. Put in a bread pan. Sprinkle with additional herbs if desired. Let rise for 30 to 40 minutes. Bake in preheated oven at 350¡ for 25 to 30 minutes. Slice into 13 slices.

	Protein	Leucine	Calories
Per loaf:	4.1 g	344 mg	1862
Per slice:	0.3 g	26 mg	143

Tomato Bread (family recipe)

6 to 6¸ c. bread flour	² t. basil
3 T. sugar	² t. oregano
1 egg	¸ t. garlic powder
2¹ c. water	¸ t. rosemary
1 t. salt	2 T. olive oil
5 T. tomato paste	2 T. yeast

In a large mixing bowl, combine 3 cups of the flour with all the other ingredients except yeast. Then add yeast. Mix well with regular beater, then switch to a dough hook. Gradually add remaining flour until dough pulls away from the sides of the bowl. Knead on speed 2 (low speed) for 8 minutes. Remove from bowl and divide into 2 loaves. Place in greased bread pans. Let rise till 1 inch above pans. Bake at 350¡ for 25 to 30 minutes. Makes 2 loaves.

These tomato breads smell like pizza when baking.

Toasted Garlic Bread

¸ c. butter, softened (1 stick)

1 t. garlic powder

1¸ t. oregano

1 t. basil

1 T. low protein cheddar cheese

(1/3 c. Parmesan cheese for family portion)

1 slice low protein tomato bread

Combine butter with herbs. Remove 1 T. of the herb butter for low protein serving. Add the cheddar cheese to the low protein serving and Parmesan cheese to the family servings. Spread 1 slice low protein tomato bread with the low protein herb butter. Spread rest of herb butter on slices of regular tomato bread for rest of family. Place on a cookie sheet; broil for several minutes until brown.

	Protein	Leucine	Calories
One low protein serving:	0.6 g	58 mg	273

Garden Salad

6 c. lettuce, torn in bite size pieces

2 c. cauliflower

¸ c. shredded carrots

1 c. chopped tomatoes

Toss vegetables and serve with dressing.

Dressing for Garden Salad

2 c. Miracle Whip (salad dressing)

¸ c. ketchup

¸ c. oil

¸ c. sugar

1 T. prepared mustard

Blend in blender. To serve, one low protein portion, use 2 T. dressing on one cup vegetables. Use rest of dressing on the family portion.

	Protein	Leucine	Calories
One low protein serving:	1.0 g	68 mg	94

Hobo Dinner (low protein)

1/3 c. sliced carrots	1 T. butter
¸ c. sliced potatoes	1 t. water
1 T. chopped onion	salt & pepper

Layer vegetables in the center of a 12" square of heavy duty aluminum foil. Fold sides up to form a packet. Add butter, water, salt and pepper. Seal packet. Grill over hot coals or a gas grill for 20 to 25 minutes, turning several times. Makes one serving.

	Protein	Leucine	Calories
One low protein serving:	1.4 g	93 mg	177

NOTE: Make hobos for other members of the family. Put a hamburger patty on the foil packet, and top with a slice of cheese; then continue as above.

Britney's Journey to Paradise

Laurie Page (Britney's mother)

Our trip to paradise was more than a vacation. It was an experience of a lifetime that has given us memories to cherish forever. The trip was a gift to Britney from her Grandpa and Grandma Turner. They have watched her fight for her life for the last eight years and want to make sure she also experiences the joys of life. What better place than Hawaii?!

Britney has MSUD and has been hospitalized several times since she was born. Last year she was in a coma three times. It has been a tough battle for her, but she has a strong will and refuses to give up. That is why her grandparents chose Hawaii, the most beautiful place on earth.

Originally Grandpa and Grandma were going to take her, but circumstances did not allow Grandpa to go, so I went in his place. It was a trip for us girls - Grandma, Mom, Britney and 2 year old Amanda. We had a blast!

Preparing for the trip was quite a bit of work, but it was well worth the effort. Grandma made all of the phone calls to plan the trip which included making arrangements with the airlines for a vegetarian meal for Britney. The airlines idea of a vegetarian meal was pathetic. We were prepared, as most of us are, with plenty of just in case food.

I pre-measured Britney's formula and packed it in zipper bags. We split the bags between our two carry-on bags - boy were they heavy! We were concerned that security would give us a problem at the airport when they X-rayed our bags and discovered all those bags of white powder, but they didn't. The guard insisted on running a special paper over the bags, then sent us on our way.

We needed to know where the hospitals were and what doctors to contact if Britney were to become ill. The Pediatric Neurology Clinic staff at Ann Arbor, Michigan gladly provided us with all of the information we needed. Dr. Allen provided a letter with detailed instructions for the doctors in case of an emergency. I don't know what I would do without the Clinic staff. They are fantastic people who go beyond the call of duty and then some.

When we stepped off the plane on Oahu, we were greeted with beautiful, fragrant leis. This was a wonderful beginning to a twelve-day adventure that would take us to four of the Hawaiian Islands.

Our first three days were spent on Oahu. The hotel we stayed in was on Waikiki Beach. Our first outing was to the Polynesian Cultural Center which is on the North Shore, as they call it. The drive there was incredible. The road twisted and turned along the shoreline which has the most beautiful white sand beaches and the most brilliant turquoise water in the world. The Cultural Center was divided into areas depicting the different areas of Polynesia with demonstrations of activity indigenous to that culture. In the afternoon they have a parade of boats carrying singers and dancers representing different Polynesian tribes.

Britney was completely mesmerized by all of it. In the evening they have a Luau with several ceremonies and more singing and dancing throughout dinner. We informed our waitress that this was a special trip for Britney. She, in turn, told the entertainers who dedicated a song and hula about children to Britney. We cried through the whole thing. The next day we went to Pearl Harbor. That was definitely an experience. To stand over the spot where 1,000 men lost their lives for our country was heart wrenching. It's a place no one should miss if they go to Oahu.

The next island we visited was Kauai, the flower island. How beautiful. We visited Fern Grotto and Waimea Canyon (the Grand Canyon of Hawaii). The views were breathtaking. An interesting phenomenon on Kauai is that several years ago they experienced a hurricane that displaced all of the island's domestic chickens. The island now has wild chickens everywhere which just fascinated both girls.

Every evening our hotel had a traditional Hawaiian sunset ceremony with singers and hula dancers. Grandma had bought the girls grass skirts, and they decided to wear them to the ceremony one evening. One of the hotel employees saw the girls and brought them each a gorgeous fresh lei. When the singing and dancing began, Britney and Amanda got up and did the hula (pictured) along with the dancers. They received a great round of applause from the audience.

We next moved on to Maui. Our first stop was the Maui Ocean Center which has many different types of marine life as well as a huge glass area that is built out into the ocean where the girls loved watching the fish swim around us. The following morning Grandma and Britney went on a submarine trip. The submarine is launched from a platform a mile from shore, so they had to take a boat to the area. The captain sought Britney out and had her sit in his seat and drive the boat on the open ocean. She thought this was just great.

The next day, we went on a snorkel trip with the Pacific Whale Foundation. Several spinner dolphins swam around the boat jumping out of the water and spinning around. The marine biologists on board made Britney an Honorary Marine Biologist and had her help them set up things for the snorkel, which she and I did together. What a great experience. I had no idea how colorful the fish and coral are.

We left Maui and flew to our final island, Hawaii, the Big Island. This was to be the climax of our trip. The main reason we were in Hawaii was so that Britney could swim with the dolphins. The Hilton Waikoloa houses Dolphin Quest which is a research habitat to save the dolphins. Grandma had made prior arrangements, and we took an excited Britney down to the area for her dolphin swim. A marine biologist supervises the swim and gives instructions about what to expect and what to do. He handed out pieces of fish and had the children feed them to the dolphin. Britney went out into the water and splashed the dolphin who splashed her back. Then she kissed the dolphin (pictured) and rubbed his belly. The biologist gave Britney another piece of fish and a big red ball. He told her to throw the ball to the dolphin and that the dolphin would throw it back to her. Then she was to feed the piece of fish to the dolphin, but if she did not catch the ball, she was going to have to eat the fish piece herself. She threw the ball, the dolphin threw it back, and she dropped it. The biologist told Britney she had to eat the fish. She looked at him, then at us, and replied, I'm not allowed to eat fish.

We had been laughing and crying through the whole experience, but now we didn't know whether to laugh or cry. The biologist told her that was okay, he was only kidding. She continued to play with the dolphin, swimming, splashing and having a great time. The whole experience was being professionally photographed and videotaped so we will have it forever.

The next day, we boarded a helicopter to fly over an active volcano and see the destruction it has caused. Most of what is visible is the black, dried lava top crust. The flowing lava is not usually visible, but we were lucky enough to witness a sky light that had opened, and to see the red/yellow lava as it flowed to the ocean enlarging the island by inches every day. As the helicopter pilot told us, You are witnessing the newest land on earth. The helicopter ride was our last great adventure in Hawaii.

As we boarded our plane for home, we bid a fond Aloha to Hawaii. What a wonderful experience for all of us, but especially so for Britney. We had no need for doctors, but a great need for tissues to dry our tears as we watched her laugh and sing and dance. We encountered some pretty wonderful people who went well out of their way to make sure Britney had an enchanting trip to paradise.

Crocheted Baby Booties & Newborn Screening

Richard & Deborah Hamburg's son Christian was born August 7, 1967 in Arkansas and died October 17, 1982 in California. Born a seemingly healthy 9 pounder, he was taken back to the hospital 48 hours after leaving it. Christian was about one month old when he was sent to the University of Arkansas Medical Center where he was diagnosed with MSUD. Christian had slipped into a coma and suffered irreversible brain damage before he was diagnosed at about one month of age. The cause of his death at the age of 15 was a brain aneurysm.

Now his mother Deborah is spreading the message of newborn screening with a pair of baby booties - yes, a crocheted pair of baby booties. Deborah wears them pinned next to her heart. She knows a great deal about crocheting as Product Development Coordinator for Annie's Attic, a nationally known publishing company where she is responsible to acquire crochet designs for both Annie's Attic and The Needlecraft Shop. Deborah also knows about newborn screening. She has become involved with the Tyler For Life Foundation and its advocacy for screening newborns. Annie's Attic has published a crochet pattern book called Pretty Baby Booties which contains Christian's story and information about Tyler For Life.

When someone comments on the baby booties, Deborah uses the opportunity to tell them about the simple blood test that can save babies from the devastation of MSUD and other inborn errors of metabolism, and how her son might have grown up to become what he wanted to be - a disc jockey - had he had the newborn screening test at birth. So Deborah passes out the tiny pairs of booties along with information sheets about newborn screening. She is making an effort to keep others from going through the intense pain and sorrow she experienced with her child.

You can help prevent this pain and sorrow in the lives of other parents. Visit the web site of the Tyler For Life Foundation at www.TylerForLife.com. You will find information on your state's current testing program and information about being an advocate for newborn screening. Deborah Hamburg found a unique way to spread the word. We can all do our part by telling those around us of the availability of screening for all infants for 30 diseases for a small fee of $20. Check our MSUD web site for information on supplemental screening or call NeoGen Screening, 412-341-8658, or Baylor University Medical Center, 214-820-4533.

For more information on the crocheted booties, e-mail Mrs. Hamburg at deborah_hamburg@needlecraftshop.com

Sanse's Gallbladder Surgery

Patty Swenson

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 1163µmol/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:

1. The high leucine levels block the other needed amino acids in her brain.

2. The lower leucine levels

1. Will help her to think better.

2. Will help prevent her mood swings.

3. Will help her sleep better.

4. 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.

Laura From Brazil

Giovanni Medeiros

On July 17, 1998, Laura Brito Medeiros, our first daughter, was born. For us, a present, an expectation! Delivered by Caesarean childbirth, she weighed 3,780 kg [8.3 lb.] and measured 49 cm [19 in.] in length and seemed healthy. The first days of her life, she was fed mother's milk and baby formula (NAN 1). About the fifth day, Laura started to exhibit a different behavior, characterized by irritability, vomits, inquietude, lack of appetite and sleepiness. So we sought a pediatrician in our city - Caic—/RN. This doctor suspected a urinary infection because of finding a strange scent in the urine. The result of the urinary exam was negative for infection. Laura's clinical picture became worse every minute. At another doctor's opinion, we decided to take Laura to another city, Natal/RN. There the doctors have a larger patient load [more experience], more medical resources, and a hospital of superior quality. During this trip, approximately 300 kilometers, Laura presented convulsions. Upon arrival, she was admitted to UTI [ICU] showing sharp dispnŽia, then she stopped breathing. Our daughter was maintained on a respirator for four days. The medical team requested many exams, besides a screening test. When we received the results of the exams, Laura was already fifteen days old and had spent nine of those in a coma. The result of the chromatography of amino acids was the following: L-leucine: 2.083,5 µmol/L [27.3 mg/dl]; L-isoleucine 107,4 µmol/L [1.4 mg/dl]; and L-valine: 584,3 µmol/L [6.8 mg/dl] indicating that Laura had MSUD.

For us and for the medical team, it was a challenge; none of us had experience working with MSUD. One of the doctors on the team remembered that six months ago, another child (Jo‹o V’tor) had the same diagnosis. We contacted the Fernandes family, and by phone learned about the geneticist, Dr. Ricardo Pires, who guided the medical team.The first procedure was completing peritoneal dialysis for 48 hours followed by glicoinsulinoterapia [insulin therapy]. We had access to formula - MSUD diet powder (Mead Johnson). We knew practically nothing about the disease, nor how to work with it.

At forty days of age, Laura left the hospital, but she vomited daily. We sought a gastric doctor who diagnosed hiatal hernia and began treatment with cisapride. During her first year of life, Laura had been hospitalized several times.

We still did not know how to work with the disease. It was through the Internet that we began to have access to information, not so much with Brazilians, but with foreigners. We began to learn about the disease through them.

We were always worried about Laura's health. Initially, following a neuro-pediatrician's instructions, Laura began a program of therapy. It consisted of strenuous stimulation for the invigoration of muscle tone, correct posture of the head, coordination for grasping and holding objects, and motor skill development.

When Laura reached eighteen months, she began to walk, achieving her freedom. Her speech began to be expressive by two years and four months. Today, Laura, is two years and eight months and attending [nursery] school. She has been continuing reinforcement therapy since she was twelve months old.

Laura is an extremely affectionate child. And every day we have more certainty that she will have a better future, if God wants.

Our participation in the MSUD Symposium 2000 was very profitable. We learned a lot about the disease and how to work with it. The support that the MSUD Family Support Group has been giving, especially the Brubacher family, is something we don't know how to say thanks for.

Another important point of Symposium for us was making acquaintance personally with Dr. Morton and his teachings. It was a great learning time for us. We intend to attend the next events. And now we receive daily news through the MSUD eGroup. All this has been very gratifying.

A hug for all our MSUD friends from Laura, Aninha and Giovanni.

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