FAMILY HISTORIES

Our Gift from Heaven

Cheryl Trudeau

At first it was like a fairy tale dream. Little did we know it would soon turn into a bad dream and a never-ending nightmare from which I just couldn't wake up. My story begins on September 23, 1985, the day I gave birth to my first and only son, Shayne Warren Davis. His weight at birth was 6 lbs. 6 oz. and he was 19 inches long. He had big brown eyes with some gorgeous, blonde hair. He seemed to be a perfectly healthy baby boy with all ten of his fingers and toes. Shayne was born at Valley Medical Center here in Fresno, California. My delivery was normal with no complications, so everything seemed to be fine. We were released from the hospital the next day and moved in with my parents until we could find our own place. I tried to breast feed him from the moment he was born, but he refused to nurse. So after two days of trying, I gave up and went to bottle feeding. I tried Similac formula, but he would only drink an ounce at a time every three hours. I was really starting to become concerned when his appetite kept decreasing at each feeding.

On the fifth day, he was down to drinking almost nothing. By the end of the day, he had only consumed three ounces. His last feeding was a half ounce at 11:35 p.m. that night. On the morning of September 29th, I awoke at 7:35 a.m. Shayne had slept through the night without waking for any feedings. I went to his crib, and he was lying in a very odd position with his back arched. He was stiff and seemed to be in a very deep sleep. I tried to feed him, but he wouldn't open his mouth. I couldn't open his mouth with my fingers; it was like his mouth was glued shut. I got really scared at that point.

I took Shayne to the emergency room at V.M.C where he was born. A doctor came in to examine him right away. He shook his head and said he would be right back. Two more doctors examined him, and they too were very confused about what was causing these symptoms. Then Shayne started having seizures, one after the other. They gave him massive doses of phenobarbital and finally brought the seizures under control. They admitted him to this hospital where he was born. The doctors thought he could be diabetic, but a blood test ruled that out.

He was taken to the Newborn Intensive Care Unit and isolated from the other babies. Shayne was now in a coma and was put on a respirator to help him breathe. His condition was getting worse; his kidneys became weak, and they feared he would have kidney failure. The doctors knew that the longer he stayed on the respirator, the weaker his lungs and other vital organs would become.

After two weeks, the doctors decided to try to get him off the respirator. They tried twice, but he had to be revived each time. They told us it was very hard on his little body each time he was revived, and asked if I wanted them to try again if he failed to breathe. Did I want to put him through that kind of trauma again? I was so upset and unsure of what to say, all I could do was cry.

I was given a little time to decide. Once I calmed down, I began praying, asking God to please give me the wisdom and strength to make this major decision. And He did. I knew I had to think about what was best for Shayne and not for my own selfish reasons. It was the hardest decision I have ever had to make, but it was also the best. I told the doctors that if my son didn't breathe on his own, they should let the Lord take him and let him be at peace, feeling no more pain. I was only seventeen and had to make a decision that would change my life.

The doctors went to his room and began the process of taking Shayne off the respirator while I stood outside his room and prayed. I begged God to please allow my baby boy to live on here with me for as long as possible. I kept saying, "Breathe baby Shayne, please breathe." He stalled for a few seconds, and then sucked in a few breaths of air and began breathing on his own. The doctors were so surprised. They came running out of his room saying, "He did it, he really did it!"

I was totally shocked, but happier than words can say. My son did it; he had such a strong will to live. God really did hear my prayers, and from then on I had faith in God. Before then, I wasn't sure there really was a God.

Now it was time to really focus on finding the cause of his critical condition. After several more doctors examined Shayne and were unable to make a diagnosis, a specialist in genetic metabolic diseases was called in. That's when I met a very special doctor and person, Dr. Susan Winters. In my eyes and Shayne's, she was heaven-sent.

Shayne was about three weeks old by then. Dr. Winters examined him and the first thing that she noticed was the odd smell from his urine. It was a sweet smell, like maple syrup. Dr. Winters had never actually treated, or even seen, a patient with MSUD. She had only read about it, and Shayne had all the symptoms. She drew blood and sent it to the nearest lab which was in San Diego.

It seemed like it took forever to get the results back. When they finally did, the results were positive. My son had maple syrup urine disease. We wanted to know all about this rare disease with such an odd name. We had no idea what we were going to experience.

Dr. Winters consulted with another doctor from somewhere back East for advice. The first thing she had to do was to figure out the right mixture for Shayne's MSUD formula. It took several tries before she got it right. I don't remember exactly what it consisted of, but a little bit of regular milk was added, and, for a brief time, thiamine was added. They had to tube feed him for a short time until he would suck from a bottle.

Shayne was finally able to come home at almost five months of age. It was the beginning of February, and he did pretty good. He got sick a few times after that, but it wasn't too bad. He was also hospitalized a few times for different reasons. Since then, Shayne had surgery on his legs to correct the damage done while he was in the coma. The surgery was not very successful. Even though the doctors aren't very hopeful, we still keep on hoping that some day Shayne will walk.

Because California does not test all newborns for MSUD, my son suffered severe brain damage. Shayne is now 14 years old but has the mind of a 4 to 5 year old child. He has three sisters who are all healthy--Heather 12, Cassie 5 and Frances 3. He seems to love them all as much as we love him. He has brought us so much joy. Shayne lives with my parents, Warren and Brenda Goodman. They take great care of him, and I am still a big part of Shayne's life.

Thank you for allowing me to share my story.

—Cheryl Trudeau

UPDATE: This history was received last year. Shayne has had a total of three surgeries on his legs. None have proved very successful. Currently he is getting therapy for his legs and also struggling with a reflux problem. If California would have had a comprehensive newborn screening program at the time Shayne was born, today at 15, he might be enjoying normal teenage activities. California still does not screen for MSUD.

I hope my son's doctor is reading this because it really comes from my heart. I would like to say thank you to a very special person, Dr. Susan Winters, from here in Fresno. Dr. Winters, I just want you to know how much my family and I thank God He sent you to us in 1985 when my son, Shayne, was given no hope of living. You were there for me during the most difficult time in my life. Not only are you an excellent doctor but a warm, caring and very loving person. Any patient would be very lucky to have you as their physician. So thank you Dr. Winters, you will always have a special place in my heart.

Your friend and more,

Cheryl Trudeau

Maria Fernanda and Her Family

The following story was translated from a May-June 1997 issue of a metabolic bulletin published in Chile. The Aravena-Orellana family first contacted our organization in November 1997. They had heard about the MSUD Symposium planned for 1998 in Lancaster, Pennsylvania and were eager to attend. In a fax they told me they were collecting bottles to try to raise money to attend. With help from the MSUD Support Group, Manuel and Sarita and their daughter Maria Fernanda were able to attend Symposium '98. Sarita and Maria attended again in 2000.

"The love of Sarita and Manuel was very quick."  Within a year after they met, they were married and Maria José was born soon after. Eight years later, José Miguel was born. Then followed the next pregnancy which was received with great joy.

On January 22, 1991, after a lengthy caesarean operation, a beautiful blue-eyed baby girl was born. They called her Marìa Fernanda. Seven days later, she started having feeding problems. She would throw up after eating. Treatment was started. She was not very active. A lot of people said she was "just a little lazy."

Months later, she overcame the feeding disorder. Her weight and height were normal for a girl her age. The concern was forgotten by everybody except Sarita, who because of her child-caring job, sensed that something was wrong--that her daughter was "different." María Fernanda appeared to be autistic. She loved to play with little wheels that she would make turn and turn. She regressed from all her little achievements and, little by little, she started to isolate herself from the world around her. She underwent many exams, but nothing precisely defined her condition.

Two years later, the family was connected with the organization, Parents of Autistic Children. They were advised that María Fernanda was not autistic. It was recommended that she attend a nursery school to improve her language skills. With this help, Maria started to talk and develop social skills. Although Maria Fernanda seemed to be happy, Sarita and Manuel still had concerns.

One day in December, pale as a sheet of paper, Maria was taken urgently to the Van Buren Hospital in Valparaíso. Dr. Daniel Abumohor suspected a metabolic disorder and contacted Dr. Marta Colombo, a specialist in metabolic disorders. Fourteen days later, she got a precise diagnosis: maple syrup urine disease.

Sarita, sitting on a sofa when she heard the diagnosis, felt as if she was starting to sink and anguish took over her heart. She could only cry and cry. She walked for long hours and found herself at home waiting for her husband Manuel. The news she had to tell him was so overwhelming. Now what? And tomorrow? And in two more years?

Manuel just cried. The dinner table was the center of family communication, and now, with all the dietary restrictions María Fernanda had to keep, it would no longer function as such. María Fernanda was a "special" girl, and the process of becoming a "special" family was beginning: to learn from the pain, to build constantly, and to close ranks in order to confront with fortitude and much love this new way of life. Unexpectedly, a new path was opened and hope reborn. The family contacted the MSUD Family Support Group and were nurtured by their experience and solidarity, their will power and affection.

SHARING

The MSUD Symposium 2000 was, as always, interesting, informative and moving. I would like to thank everyone who worked to make it happen (especially Herb Foster and Trish Mullaley) as well as everyone who participated.

After talking with many parents and hearing lots of horror stories, I wanted to suggest a way that we, as a group, might better help each other. It is apparent, unfortunately, that there are few doctors in the United States who have experience dealing with MSUD emergency situations.

Most of us travel as families, and, as our children get older, they will travel more often alone. In our case, we put a lot of effort into travel preparation, but things can still go wrong.

Just to give you one quick example: our son, Nikolai, went to visit his brother Thaddeus, who was living in Los Angeles at that time. Since a formula order was about to be processed two weeks before the trip, we asked our pharmacy to ship it directly to the Los Angeles address. Thaddeus confirmed receipt of the formula box, and Nikolai flew to L.A. carrying just one extra day of formula. This prevented his having to deal with heavy formula in baggage or lugging it onto the plane.

Nikolai arrived at his brother's apartment, opened the box and discovered that the wrong product was inside. By the time he called us, it was late in the afternoon here on the east coast and, of course, this had to happen on a Friday.

With just minutes before closing time for the weekend, we made frantic calls to the formula manufacturer, the distributor, the L.A. hospitals, and our doctor. We finally located a nearby L.A. pharmacy where formula could be shipped (they could not ship it to a private address), and our efforts proved successful—but not without incredible strain and pressure on us. It was a near disaster. Nikolai could have been without formula for three days.

It occurred to me during the recent Symposium that if that happened or some other MSUD crisis to a MSUD child or adult anywhere near where we live in western Massachusetts, we would know how to get help for them. We would know where blood could be drawn and spun, how to get overnight or even same day delivery to the nearest equipped hospital, and who could be trusted on a local level to consult with their primary doctor. We also know where the nearest doctor familiar with MSUD is located, and could perhaps lend some emergency formula from our kitchen if it happened to be the same type. In case of emergency, Barbara and I could also assist with advice since we have had more than 26 years of experience with various MSUD problems. I would think we could be of comfort to another family if their child was caught in a crisis situation.

We suggest every family connected with MSUD, who is willing to help other families, make a note of this type of emergency information to keep on hand for easy reference. On the next family address list, or in a separate mailing, all willing families could be identified. The information necessary to make a quick contact with a local family would be included for emergency assistance. Then when an MSUD adult or family travels, and there is a crisis, they would be able to check the family list and locate a nearby contact person.

Although it is important to encourage more doctors to specialize in this field, that will take time. In the meantime, if we can be of support to each other, it could ease some of the stress resulting from traveling away from our primary doctor and hospital.

Please contact Joyce Brubacher (editor) with an updated address, telephone number and e-mail address and indicate that you are willing to be a travel emergency contact family. But make sure you then jot down MSUD emergency information that could be used in your area and keep this handy.

—Eric Rudd

Your clinic may also be able to supply emergency contacts in the area where you plan to travel

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