Stories of Children with Organic Acidaemias

Please select one of the following:

 Methylmalonic Acidaemia – the Story of Kathryn’s early years  

 Methylmalonic Acidaemia - the Story of Kathryn's Second Decade

 Methylmalonic Acidaemia - Cory Alan Turner 26 months

 Propionic Acidaemia - Jessica Dury - 2 years

There are many interesting stories from the US on the website of the Organic Acidaemias Association -
Click for details.

The Story of Kathryn’s early years

Kathryn, the First 10 the story of a young child's fight against a rare life threatening illness; of her parents' Christian faith and how it helped them through this difficult time. The book also contains a selection of poems, mostly written by Kathryn's mother at \various times during Kathryn’s first 10 years The book includes a centre double page spread of black and white photographs. 

'You’ve got a little girl and she's alright' ~ these were the first words I heard as I came round from the anesthetic of a caesarean section ...

  ..eight months previously I had an infection for which I had been given tablets that should not have been taken during pregnancy. Did this have anything bearing on what happened eight days later???

The book is available through mail order at £4.50, including postage from Mrs. Eileen Priddy, 5, Saxon Road, Ashford, Middlesex, TW15 1QL.

E-mail us

 

Kathryn, The Second Decade By Eileen and Kathryn Priddy

“This is the second volume of an inspiring story in which Kathryn continues to blossom in joy, creativity and her Christian faith in spite of her continuing medical challenges.
An encouraging read.”

Andy Gilmour, Manager, Canaan Christian Book Centre, Staines.

“This volume complete Kathryn’s second decade. There have been significant gains in terms of general health as evidenced by her fewer hospital admissions and the loss of the nasogastric tube, but counterbalanced by the development of unexpected visual problems, and not unexpected renal problems. Nevertheless, what shines through Kathryn’s tale, a tale of an ordinary family with an extraordinary problem, is that commitment and dedication can prevail over the most adverse of circumstances. We can therefore look forward to the third decennial volume.”

MD Bain, Consultant Paediatrician, St George’s Hospital.

 

 

Kathryn, The Second Decade

at £5.00 including postage from 

Mrs. Eileen Priddy, 
5, Saxon Road, Ashford, Middlesex, TW15 1QL.

Cory Alan Turner 26 months

First Published in the Organic Acidaemia Association Newsletter, April 1994

By Leah Turner, edited by OAA Staff

Cory was born on Friday, February 28, 1982 at 35 weeks gestation, 5 weeks early. He was delivered by emergency C-section after he was diagnosed with "HELLP" Syndrome. He was a healthy baby for a preemie and we went home when Cory was 5 days old.

Cory was a good baby and slept most of the time. When he was awake he was either eating or projectile vomiting; he was also very floppy. When Cory was six weeks old, I went back to work. I then began feeding rice cereal with his formula (he was a poor feeder and I gave up on breast feeding at 2 weeks.) A few weeks later he began; to throw up more than before, then at about 3 months of age he began to have seizures. He would draw up, stick his tongue out roll his eyes back, and stare. When I told the paediatrician that Cory was acting strange, he referred me to a neurologist. I am so thankful he listened -- I was just in a daze.

After three EEGs, daily seizures lasting up to six hours each, six trips to the ER, Phenobarbital, Tegretol, Dilantin, Knonopin, and IV Ativaa, he was Care-Flighted to Fort Worth, Texas. The neurologist there decided an underlying factor may be responsible for the seizures, so other tests were done on his blood and urine.

I remember clearly the morning when the neurologist came in and told me Cory had Methylmalonic Acidaemia. I remembered the story of Patricia Stallings on "Unsolved Mysteries," but the doctor didn't know if their MMA was the same as what Cory had. Cory was put on a strict new diet with Analog and Polycose formulas. He started physical therapy and we continued on with his endless medications, weekly trips to the paediatrician for injections, and that formula that said, "Improper preparation can, cause illness.”

The next time Cory had an uncontrollable seizure, he was taken to Children’s Medical Centre in Dallas where there was a doctor familiar with MMA. That two-week hospital stays got Cory's seizure medicine changed again and his formula switched to 80056 and OS1. By this time Cory was 7 months old, but he couldn't sit up, roll over, reach, or track and the seizures continued. 

In November we moved to Louisiana to live with my parents. I was recently divorced, working full time, trying to care for Cory and not forget his 3 year old sister who was staying "here and there" during hospitalisations. I was fortunate to find a new paediatrician who had heard of and actually treated a child with MMA. He referred us to another geneticist in New Orleans. 

In December, Cory, weighing only 12 pounds, began losing weight and the medicine dropper feedings weren't very successful. We were instructed on how to feed him by NG tube (through his nose into his stomach). It was a very unpleasant experience. The day after Christmas, Cory was admitted to the PICU for dehydration, and again at the end of January. After 2 weeks, still sick and having seizures, he was taken to New Orleans to be treated by Dr. Shapiro. Cory was the sickest ever there, but it was also a turning point in his life. During the month he was there, he was put on ACTH for infantile seizures, vitamin B12 injections, Betain, Propimex and Prophree formulas, and surgically given a Bard G-tube for feedings directly into his stomach. He has now gained over 8 pounds, hasn’t had a seizure for over a year, and is now very alert, smiles, babbles, rolls over, drinks from a cup. rocks on his knees, is healthier than ever, and is progressing daily. 

Cory has had quite a life and given quite a testimony. At almost 6 months of age I was told he may not live to be one year old. At 15 months he got the Chicken Pox and I was told he might not survive that. We were also told that Cory was a "neurological disaster" and that I should institutionalise him and go on with my life. We were told he would never develop beyond the two-month level. I have been told there is no way he would live past the age of 5, 10 at the most. There was a time he would look right through you and was unresponsive to everything, even pain. 

I'm glad I chose to keep Cory at home. I believed God would keep the promises He had made to my mother in August 1992 She was praying for Cory and me, and the Lord gave her Isaiah 49:25, which said He would deliver us from the terrible. It took a lot of faith in God to not give up and wish he would just I ahead and die. Cory was delivered thanks to the Lord sending us to the 5th neurologist and the 7th seizure medication. 

I know Cory is not in the world by accident. Five women told I would have a baby, even though Cory's dad and I were separated, but God had a plan for that, too. Two months later we were back together, and Cory was on his way. We divorced the time Cory was 3 months old, but since re-married. It would have happened had Cory not kept us in almost constant contact with each other. I have never been angry at God or wonder "why me" but I have wondered the purpose of it all. Maybe it was to make me a better person, more compassionate, more understanding. Having a child like Cory changed our lives but I couldn't imagine life without him. 

Cory is now on 300mg Ucephan 3 times a day, 30 mg of Phenobarb, 250 mg Carnitine, and 1 ml injection of vitamin B 12. He is fed 302 of formula every 3 hours and is on the Kangaroo Pump from midnight to 8 am. His formula consists of 15 tbs. Prophree, 6 tbs. Propimex, 8 oz whole milk and 15 oz water. 

I really appreciate the Newsletter and the magazine Exceptional Parent. There is so much good information in them both. I would appreciate letters to help me with some questions I have and would be happy to talk to anyone who has any questions or advice. 

1.  How can I keep his stomach from being so red and sore looking? I've tried mild soap and water, peroxide, uceran cream, nystantin, and triple antibiotic ointment. Sometimes it looks ok and others it looks awful. Why does it leak so much around his button? We have even had it replaced.

2.  How do you overcome the guilt of putting down a sick child who can't talk to avoid neglecting a sibling who has a life too. It's hard to play with his five-year-old sister as much as she needs when Cory is so demanding. She helps with feedings and injections, and makes Cory laugh and smile more than anyone else.

3.   Cory receives an injection every day. Some kids don't get them that often, sometimes weekly or less. The doctor can't help me understand why he does, it's just what he believes in. How will Cory's thighs hold up?

4.  Cory hears and sees fine but still doesn't sit up, crawl reach, or hold any objects. The biggest problem we have encountered is a seat for Cory. What can anyone recommend for around the house and going out to eat, for a child who has almost no trunk control? We have a wrap-around Velcro support but it isn't as strong as Cory. He has a snug seat but it is so heavy don't take it out of our vehicle unless I have to. ARCO loaned a chair but he cries and looks very uncomfortable in it. 

Leah Turner P.O. Box 1134 W. Monroe, LA 71294-1134

Telephone +1 (318) 387-9036

Jessica’s Story

Janet Drury has written about Jessica who was two in May 1991 and was diagnosed as having Propionic Acidaemia at two weeks old.

Every one at the hospital was so evasive and we were very glad to receive our information. Luckily a new consultant was appointed who had experience of this disease. He is a super. approachable chap with a number of children of his own who is always willing to speak us when I am worried about Jessica. Jessica’s dietician was also very supportive and has become a personal friend. She is now in temporary retirement but her replacement is also very keen and helpful.

Jessica is our second child, is now (September 1991) 28 months old. We also have a 4 year daughter. Hannah. During her first year she probably spent 3 to 4 months in hospital spread throughout the year. Apart from having to feed her little and often on low protein meals she wasn’t much different from any other baby in respect of her diet. Her development was delayed, which was understandable when you take into account how ill she had been. Jessica’s muscle tone was poor and she experienced difficulty in holding her head. By her first birthday she could crawl.

During summer 1990 we started to experience problems. Jessica intermittently vomited, usually about 11pm. and usually her entire intake for the day. The vomiting became more frequent so we repeatedly took her into hospital where she was held for a couple of days until her ammonia levels dropped. She was then discharged only for the whole cycle to be repeated until eventually she lost weight, her calf muscles wasted away and she became acidotic and very ill. Simultaneously her appetite diminished and we had to commence tube feeding with a nasogastric tube.

The next six months were traumatic, Jessica spent at least one week every month in hospital. On top of this we had moved house. my husband changed his job and Hannah had started nursery. She settled in well, but we often had to arrive late after having to bath Jessica after a vomit. Since April Jessica has had a gastric tube and is fed overnight via a Kangaroo pump. Her protein intake varies between 1 and 1.5 grams per kilo when she is well. We have found life much easier since we started using the pump for overnight feeds as Jessica tolerates the feeds much better and we are not having to feed her every two or three hours as we did last winter. We are now looking at the Abbot Companion pump which is portable and very useful for days out or long car journeys.

Jessica’s general development is slow. She is at the stage of, say, an 18 month old child. She has just learned to walk but her speech is limited and unclear. Although smaller than children her own age Jessica is solidly built and at the moment looks well. People find it hard to believe that she survives on 1 litre of fluid per day!

Jessica has been 'statemented' and we are waiting confirmation of a place at nursery school starting in October. Everybody would like her to transfer to a mainstream education, but in the mean time we feel that she would benefit from some personal therapy in a special school to improve her social skills.

I must say that we found the red tape frustrating. The main problem is that Jessica doesn’t fit into any category. I had to learn from other parents who had sick children about entitlements. The medical staff apparently thought that we were coping well and didn’t need any help! However we now receive day time attendance allowance, visits from hospital outreach nurses and were referred to our local hospice, Martin House. We have just spent a lovely weekend there (Jessica was well). Hannah loved it and the staff allowed her lemonade for breakfast that she consumed in bed watching Dumbo on video. it was so nice to be catered for, as I am sure that you would that agree holidays are difficult to plan and although they provide a break and a change of scenery to be made, they are not really a rest when special feeds have to be made and the child tube fed. Whilst chatting to another parent about this subject we said it would be good idea to compile a list of places which would cater for special diets and hey presto your newsletter arrives.

Janet adds a PS in December saying that

“Jessica started in her nursery school in October and loves it . Her speech and social skills have really improved. I must say that she is really looked after by the City Education Department. A taxi picks her up each day so that we do not have to worry about transport and they provide nurses to feed her.