Marissa Buchanan: Born September 20th 1991

Last Updated 7th November 1996

Marissa lives near Birmingham, Alabama. We first contacted Marissa's Mum Lisa in June 1993, she was very sad to hear that James was diagnosed with TPI deficiency but relieved to come into contact with another TPI family, until we made contact they thought Marissa was the only TPI child world-wide. The Buchanan family were thrilled to know that research into finding a treatment or cure was about to start in the UK, and that the UK media and general public were extremely moved by James and Jordans plight. The American public and media were very unsupportive towards Marissa.

Marissa's first 2 years of life were very typical, bouts of anaemia due to a breakdown of red blood cells (haemolysis), blood transfusions to remedy the anaemia, not walking etc,etc, slowly TPI deficiency was affecting her motor skills. As with nearly all TPI children, some form of virus triggered the devastating affects, attacking the nervous system. Some children never recover and fade away, some, like James and Jordan manage to battle through, only to be hit again sometime in the future. Marissa battled through also, but her Mum and Dad could see she was getting worse, struggling to sit unaided, unable to make her hands and legs do what she wanted. At this point Marissa's condition was still not diagnosed.

In October 1993 Marissa was finally diagnosed with TPI deficiency and then in December 1993 she was struck down with Flu. Marissa was doing poorly and had to be placed on a ventilator, she spent the next 6 months in 'The Children's Hospital of Alabama' , finally returning home in the summer of 1994 in a wheelchair, and still on the ventilator. Since then Marissa's condition has been fairly stable and although she is unable to talk, due to the tracheotomy, she is very bright with a wonderful smile and loves to watch T.V, listen to her music and have books read to her. As seems to be the case with nearly all TPI children, their intellectual faculties appear to be unaffected.

Marissa Brooke Buchanan’s Story - Told by her Mum Lisa

Marissa was born September 20th 1991 after a normal pregnancy. She was a planned C-section due to our previous child, a boy being a C-section because of his position and size. She was a beautiful baby girl, weighing 7lbs 5ozs and was 19 inches in length. When I first saw her, her skin colour was beautiful to me. What I didn’t realise was that she was turning jaundiced within hours of her birth. Her biliruben level was dangerously high. She was placed under special lights to reduce her biliruben level, but it did not help.

Dr. Packard informed us she would have to be transferred to the Children’s Hospital at Birmingham Alabama, which was an hour and a half’s journey. I was not allowed to go with her due to the C-section surgery. Marissa was given a full blood exchange, her blood type is A negative, my husband and I are A positive.

After the blood exchange all was normal and Marissa was allowed home. Her haemoglobin levels were always low and we were told she suffered from a haemolytic anaemia, but she would be OK.

Her first year of life was were filled with tests and check-ups, then at 20 months of age she became ill. On this occasion she was again given a blood transfusion. Each time she became ill her haemoglobin levels would drop, but on this occasion it dropped lower and after the illness she was very lethargic. After 4 days we were able to take her home, but this time we had to carry her.

At this stage Marissa could sit, crawl and pull herself to a standing position. She was also able to feed herself finger foods without assistance. Marissa’s blood was being sent all over the world for tests as they were still unable to give us a diagnosis. Marissa was behind in development and motor skills and she was unable to walk.

May of 1993 was the only blood transfusion since the one she had at birth. During that summer I began to notice that she was getting floppy and was unable to hold her head straight, she would tilt it to one side. She also lost the ability to sit unaided. Still we did not have a diagnosis.

More tests were performed for muscle and nerve performance. We were informed that she had no deep tendon reflexes. So at this stage we were told to expect that she would probably need braces to walk, if she would walk at all! Soon after this Marissa was diagnosed, we were told she had a terminal disease called TPI and that her life expectancy was at best up to 5 or 6 years.

Marissa would become sick, but always bounce back. Our inability to accept the prognosis would not allow us to see the further weakening of our little girl. Then in December 1993 we all developed the flu and Marissa was put on anti-biotics, but this did not help Marissa. She was unable to eat and began to lose weight. On Christmas day her fever became very high she became very lethargic. We took Marissa to the local hospital and for the following 8 hours her condition worsened. It was decided she needed anti-biotics intravenously and would need to be transferred to the Children’s Hospital at Birmingham Alabama. During the journey by ambulance she was given no oxygen, although it was obvious she needed it badly. On arrival at the hospital she was given oxygen and her colour returned immediately. But this still did not solve her problem. Her O2 saturation levels were low and her CO2’s were high and she was unable to correct this due to her respiratory condition. Two days later she was placed on a ventilator and it was determined at this stage that she would need this permanently to survive!

During her six month stay in hospital she lost her ability to suck her pacifier, mover her head, arms and legs. She had a permanent tracheotomy inserted and lost the ability to talk. She could make a few wordy sounds, but was unable to communicate via speech. She was unable to eat orally and had a gastrostomy inserted for feeding and medication. Anything fed orally would end up in her lungs. She had not been potty trained so she was incontinent of bowel and bladder function. Worst of all, her hair fell out during this time.

We had never been informed of the signs or symptoms to watch for concerning TPI. Had we been told to look for respiratory distress etc,etc, Marissa might have received the oxygen she so badly needed in time, and so averting the disastrous consequences. We never found out the complications of TPI until after her Christmas Day 1993 crisis, by which time it was too late!

After a long training period and a lot of prayers we were able to bring Marissa home. We carried a small fragile child to hospital that Christmas day and brought home a helpless, totally dependent angel. Marissa is totally dependant on her ventilator "Charlie." We have learned the true meaning of miracles by being able to bring her home!

During the two years we have had Marissa home she has been back to hospital for minor problems and is on medication for seizure control. She needed to be catheterised for a period of time and always seem to be fighting an infection, but she is such a fighter and his holding her own. Recently were able to take her off the ventilator for up to 100 minutes daily, but she became ill again and that has had to stop. We hope to try again in the spring of 1997 if she is strong enough.

The joy we have with her each day is the hope that a treatment or cure will be found one day. The simple little things in life become major events, when the words ‘your child has a terminal disease’ are said, your whole perception of life changes in a split second. Our little girl has become a high-tech miracle and our whole family is aware of each and every day we share with this beautiful gift from God. Marissa suffers from the most sever form of TPI, yet her smile will melt your heart. She loves being able to go to Sunday School and Church and playing with her brother. Marissa is probably the only five year old child that watches "I love Lucy" all day. She will smile and laugh so hard the ventilator will alarm!

We hope our story about our beautiful little angel Marissa will encourage more research and study to find a treatment or cure for TPI. Our family thank God every day for the time he has given us with our little miracle "Marissa."

LISA BUCHANAN - September 1996

If you would like to help, or find out more about TPI deficiency, please E-Mail me at:
Send E-Mail to Dave Stewardson (Father of James)