Our Kids /
Kumiko
Kumiko
MMA, Cbl C
Kumiko was born September 12, 2001. I was 41 years old so we had an amniocentesis done. Without any history to indicate a MMA they didn’t think to look for such a rare disorder. My mother is Japanese and my father is of English descent. Kumiko’s father is a mix of Irish, English, Italian, and American Indian.
Kumiko’s two half-sisters were born when I was 19 and 21 years old, so any additional discomfort I felt during pregnancy, I attributed to my age. This pregnancy did feel different and I found that I couldn’t eat meat from around the 5th month on. I breast fed her in the hospital, but when we got home she refused to eat. We took her to the doctor and she took a bottle for him so he told us to give breast milk in a bottle. During the next few weeks she was still not growing well, so the doctor recom-mended adding formula to the breast milk.
My husband was very happy with our new baby and thought the doctors were being unfair in thinking she should grow faster. I was very concerned that Kumiko didn’t look at our faces at all. The doctor was concerned that she was very floppy. By December, we’d seen the doctors quite a bit and she was still below weight, still not sitting up or holding her head up, and she seemed to spit up more than other babies. We thought every babys different but she just didn’t look happy.
One Friday at 4 mos old, Kumiko became reluctant to eat and threw up a great deal of each feeding. By Saturday we talked to the nurse who thought she might have some sort of flu. We gave her water and Pedialyte. She got to where she couldn’t hold down formula. She didn’t have a fever, actually, she felt a bit cold to the touch. Sunday night, her breathing starting to get faster and faster and we decided to bring her to the ER.
Luckily, the hospital closest to us was Denver’s Children’s Hospital. As soon as we got there they whisked us into a room and gave her oxygen. They suspected elevated ammonia in her blood and proved it with a blood test. They put her on a glucose drip with added bicarbonate to adjust her pH. They told us they suspected a metabolic condition. Kumiko looked terrible, but the monitors showed that they were getting her stabilized. By noon she had several IVs and was sleeping though everything.
They put her in ICU with a dedicated nurse monitoring her. I was so tired that I went home, and my husband stayed behind. We took turns working, sleeping, and staying with Kumiko. Within a few days they had a diagnosis (MMA mut 0) and had a special metabolic formula for her. Kumiko woke up and her condition stabilized even more, to where we felt as though we were meeting our daughter for the first time. One medicine that continued and would become daily was L-carnitine, which helps remove the Methylmalonic acid from her blood.
The doctors suggested that we have a gastrointestinal feeding tube or “G-tube” installed so that in the future we could keep her hydrated even if she refused to eat. After nine days in the hospital we finally got to take Kumiko home. She was feeling some pain from the surgery, but as she started to heal, she started to show more signs of alertness than she ever had before. She was like a new baby. She began to look at things with interest and slowly she began holding her head up.
After discharge there were weekly blood tests, and many doctor visits and prescript-ions. One of Kumiko’s prescriptions was for B12 injections. Not only was this a weekly shot that hurt, but the first pharmacy gave me a cyano type, so the doctor made me get another kind from a special pharmacy. In the end she turned out to have a type of MMA (Mut 0) that doesn’t respond to B12. The pediatrician recommended something called Emla or Lidocaine to reduce the pain of the shots. The Emla cream goes on the surface of the skin about 20 minutes before the shot, and then you cover it with a Telfa bandage to keep it from rubbing off (I used plastic wrap because it’s cheaper). Now, when I pull out plastic wrap Kumiko knows shes about to get a shot and starts screaming. The most important prescription was for the low-protein formula: Propimex from Ross. (Later we used XMTVI and DuoCal.) We were lucky the State of Colorado passed a law requiring our insurance to cover special formula.
Another big adjustment was the g-tube. My husband and I both took the 20 minute class, but neither of us felt prepared. In theory, we were supposed to feed her by tying a syringe above her crib and letting formula flow into her by gravity. In practice we found that it was impossible to keep her still and we ended up with more formula in her bed than in her. It was more practical to push the formula into her using a syringe, but you have to watch her face for signs of gagging as you go.
Another thing we learned about the g-tube equipment is that they don’t give you enough, so you have to learn to clean the tubes out and re-use them. We set up a hook over the sink for drying the washed tubes. We found that we could extend the life of a syringe by putting a little canola oil on the plunger after washing it. Also, lucky for us, Denver has a lot of stores for people who make home brewed beer, so we were able to find tiny, good quality pipe cleaners there. We learned to always keep at least one brand new syringe in her diaper bag in case one broke and two wash clothes for catching the drips.
We were told that the g-tube sometimes leaks and we were given a box of gauze and tape each month. We found that the gauze seemed to hold the moisture near her and make it more irritated. It seemed to work better to just towel her clean each time we fed her. However, at around 18 months old, we started having more and more trouble keeping the area clean enough. She had an ongoing rash that we were treating with lots of gauze and diaper cream. Then one day, the part of the g-tube that closes the hole broke off. I made a temporary plug by taking a plastic tube tip, heating it and pressing the end closed. The new plug worked better than the old one and her rash cleared up.
Kumiko has never learned to feed herself. She did eat by mouth for a few months and we only used the g-tube to feed at night. She started eating solid foods at around 6 months old but after a few months, she started refusing to eat anything by mouth and I sometimes wonder if things would be different if she’d been getting hungry between feedings like other children. In any case, now that she has a g-tube she can only be watched by someone who knows how to feed her. The school she attends must have a full time nurse on staff. Also, Social Security has programs that help pay for daycare but because of her g-tube they require that the care be administered by an LVN or better. With the nursing shortage, it’s impossible to find an LVN who will accept the sitter pay, so Kumiko doesn’t get the service.
For several years Kumiko did pretty well, she got periodic blood tests to monitor her amino acid levels, and was hospitalized a couple times a year. In between she was a pretty happy child, if somewhat weak and behind in her development. We got a wheel chair because she tired easily walking long distances (like through a mall, although walking there is one of her favorite things to do). She also loves swings and roller coasters.
In December 2005 she had a mild flu, and we brought her to the hospital as a precaution. The next day after tolerating her formula, and tests showing no elevated MMA or ammonia, she was released. But she wasn’t better. 36 hours later, Kumiko was lethargic, vomiting, dehydrated, and definitely on her way to a crisis. Although we keep a copy of Kumiko’s protocol letter in her “hospital bag”, we forgot to check to make sure it was still there. Instead, it was with her discharge papers from the previous day and there was a delay. She went into a full blown crisis and was hospitalized almost 2 weeks.
During her stay they administered an antibiotic that caused a rash all over her body and really drew out her stay. The doctor put her on insulin because she was getting dextrose via IV, then had the nurses check her blood sugar every 15 minutes. This went on for days and she couldn’t get any sleep and felt terrorized by it. After a few days I learned that the nurses could skip the toe prick if I had them write “parent refused” in the chart. It made the doctor mad, but it allowed Kumiko to sleep.
Although she had been able to walk and was working on stairs before going into the hospital, when she got out she couldn’t even stand for weeks. A nurse told me to expect a week of recovery for every two days in the hospital and that’s about what it took. She looked so sad for so long I worried that she might never be happy again. She also stopped talking for weeks.
After that, Kumiko went about two years doing pretty well, back on her old routine of hospitalizations occurring about every nine months and lasting two or three days each with no serious complication. The state sent us occupational therapists who helped get her playing, moving, and interested in new things. By then we were living in Los Angeles where they have excellent special ed schools and other things for special kids.
Then in 2007, her father, who had been her primary caretaker while mom worked, graduated school and started working as a junior high school teacher. By that time the three of us had moved in with other family members. There were people around to help take care of Kumiko but our communication was a little lacking in the area of diaper changes – no one noticed that she had stopped pooping. She started having bad constipation and making sure she got enough water started to become a real problem. The doctor also started making big changes to the volume and protein level of her formula. It took working with the doctors and really focusing on water and making sure to give her lots of laxative, before we were able to get it under control.
Now Kumiko is 8 years old. This year for the first time, she is in a special ed classroom in a general education school, and has a tough teacher who makes her work at learning to read, write and catch up with her grade level. She is unable to dress or feed herself, and only recently and somewhat rarely engages in “mean-ingful speech”, although she sings all day long. She loves water, and will pour it on her head anytime she can. She also loves salted popcorn which she doesn’t eat but just sucks and discards. She loves picking flowers at the park and “climb-ing trees” (really I just put her in a tree and let her enjoy the view), and she never tires of tickling.
Last year, Make-A-Wish granted Kumiko and her dad a week’s vacation in Orlando where they spoiled her and lavished her with gifts. We also went camping with her older sister and to a water park for her birthday. She loves playing with her computer, watching her favorite videos, goofing off in the yard, and spending time with Mom and Dad. All in all Kumiko is a very happy kid. If you’re looking at a child in the hospital right now you may find it difficult to imagine seeing that person smiling and playing with abandon someday, but I felt that way too. Just give it time.
Kumiko’s dad and I fight hard to minimize the doctor visits and blood tests in her life, hoping to maximize the vacations, park visits and everyday fun. I don’t take the things doctors tell me as gospel, I believe that you must critically assess everything they say and judge for yourself what priorities to hold dear. You and your family have to decide how to fit these challenges into your life and what to move aside for it. But every family is different.
We just wanted to end our story by saying that when Kumiko was first diagnosed, it was frightening. One of the scariest things was how little information was available. I don’t mean technical information like how the disease works, but simpler questions like what kind of life she might have, and how we could help her. When we found the OAA and read what other parents had written about their children, their progress, and what their lives were like, it was a great relief. So, now it is my turn to try and help others with our story. If you have a child recently diagnosed with MMA or similar condition, believe me when I tell you that while everything might seem overwhelming at first and there is always some stress, soon it will become easier.
Every life has challenges and when they don’t, those people usually go out and make some for themselves. Your challenges will be interesting and the rewards will be great. Good luck!
Chris, Mina and Kumiko
Kumiko
Kumiko Elizabeth was born September 12th 2001, with continuing coverage of “The day that changed America Forever” droning in the background. I was 41 years old and had already had one miscarriage, so we had an amniocentesis done as early as possible. If they had known to look for MMA they would have found it, but without any family history to indicate a problem they didn’t think to look for such a rare disorder. My mother is Japanese and my father is of English blood from Virginia and Maine. My husband is a mix of Irish, English, Italian, and American Indian. It seemed that we had a pretty healthy mix of genes going. There is a little diabetes in his family and asthma in mine, but in general both our families are healthy.
I breast fed my other babies, and in the hospital Kumiko seemed to take the breast just fine, but when we got home she refused to eat. We took her back to the doctor and she took a bottle just fine in the emergency room (although by then she was pretty hungry) so they told us to pump the breast milk and give it to her in a bottle.
During the next few weeks Kumiko was still not growing as well as expected so the doctor recommended adding formula to my breast milk. My husband was very happy with our new baby and thought the doctors were being unfair in thinking she should grow faster. I was very concerned that Kumiko didn’t look at our faces at all. I know that every child is different, but her lack of interest in the world seemed very unnatural to me. The doctor was concerned that Kumiko was very floppy (hypotonic) but my other kids were also on the floppy side and my family has low blood pressure, so I thought that was just a family trait. Besides, her floppiness made her very cuddly and fun to hold.
By December, we’d seen the doctors quite a bit and she was still below weight, still not sitting up or holding her head up, and she seemed to spit up much more than other babies. We used mostly Enfamil, but also tried other formulas. When we tried formulas that contained “comfort proteins” she threw up and cried terribly. Again, we kept telling ourselves that every baby is different. I’ve heard of babies who screamed their whole first year, and mine was sweet and soft and gentle as could be. Still, she just didn’t look happy.
One Friday afternoon in January of 2002, Kumiko really seemed to be getting worse and worse. She was really reluctant to eat and she threw up a great deal of every feeding. By Saturday afternoon we’d talked to the on-call nurse and thought she might have some sort of flu. We started giving her water and Pedialyte. She got to where she couldn’t hold down any formula and just cried and cried. She didn’t have a fever, actually, she felt a bit cold to the touch. Around 11pm Sunday, her breathing starting to get faster and faster until she was fully hyperventilating and we decided to bring her to the Emergency doctor.
Luckily, the hospital closest to us, just minutes away, was Denver’s Children’s Hospital. As soon as we got there they whisked us into a room and gave her oxygen. They suspected elevated ammonia in her blood and proved it with a blood test. The ammonia was making her blood acidic and was acting like anti-freeze keeping her cool too. They put her on a glucose drip with added bicarbonate to adjust her ph. They told us they suspected a metabolic condition.
Everyone at the Children’s Hospital was so wonderful, they really helped us feel better right away, they kept us informed of what they were doing and we felt they were doing the right things. Kumiko looked terrible, but their monitors showed that they were getting her stabilized. By mid morning she had several IVs and was sleeping though everything.
They put her in ICU where she had a dedicated nurse monitoring her. Finally, I was so tired that I had to go home, but my husband stayed behind. It’s so hard to leave a little one in that kind of condition, but we’ve found it’s very important to get your sleep too. It’s a difficult balance to achieve, and at that early stage we didn’t know how many days off work we would need. We took turns working and staying with Kumiko and sleeping.
Within a few days they had a diagnosis for Kumiko’s condition (MMA) and had a special metabolic formula for her. Kumiko woke up and her condition stabilized even more, to where we felt as though we were meeting our daughter for the first time. They moved her slowly from various IVs and medicines to the new formula. One medicine that continued and would become daily was Levocarnitine. As I understand it, Levocarnitine is a “carrier” substance that helps remove the Methamalonic acid from her blood.
After nine days in the hospital we finally got to take Kumiko home. Kumiko was feeling some pain from the many IV sites and the g-tube surgery, but as she started to heal, she started to show more signs of alertness than she ever had before. She was like a new baby. She began to look at things with interest. She began to make an effort to move more and slowly she began holding her head up.
During the months following her first hospital visit there were weekly blood tests, many doctor visits and prescriptions to pick-up. We used Motrin more than Tylenol for Kumiko’s pain, because the nurses explained that it’s easier on her liver. Since this condition is already hard on their livers, we tried to reduce other strains on it. I’m a big fan of aspirin, which is also metabolized through the kidneys, but it’s hard to find it in a liquid form that you can give to babies.
I asked her pediatrician if there was something I could do about the pain of the shots. She recommended something called Emla or Lidocane to reduce the pain of the shots. Again, the pharmacy gave me the wrong thing at first, so it was a good thing I had the nurses check it the first time I used it. The Emla cream goes on the surface of the skin about 20 minutes before the shot, and then you have to cover it with a Telfa bandage to keep it from rubbing off (I used plastic wrap because it’s less expensive).
We were also very lucky that the State of Colorado had just past a law that required our medical insurance to cover special formula as a prescription, because the stuff is very expensive.
Another thing we learned about the g-tube equipment is that they don’t give you enough of the consumables, so you have to learn to clean the tubes out and re-use them. This in itself is a big chore. We set up a hook over the sink for drying the washed tubes and a rotation schedule. We found that we could extend the life of a syringe by putting a little canola oil on the plunger after washing it. We found that you can get junk off the inside of a tube by pinching it from the outside so that the insides rub against each other. We learned to always keep at least one brand new syringe in her diaper bag in case one broke (our standard practice is to bring the last one we used, one clean used syringe and one set of new syringe and tube still in their packages. We also bring two wash clothes for catching the drips).
We were told that the g-tube sometimes leaks and we were given a box of gauze and tape each month. At first the g-tube site was a pretty weepy, but soon we found that the gauze seemed to hold the moisture near her and make it more irritated. It seemed to work better to just towel her clean each time we fed her. However, at around 18 months old, when her second g-tube was about 5 months old we started having more and more trouble keeping the area clean enough. Kumiko, and who ever was holding her was continually adorned with a wet spot about the size of my hand. We had to change her outfits throughout the day, and she had an ongoing rash that we were treating with lots of gauze and diaper cream. Then one day, about six weeks after the rash started, the part of the g-tube that closes the hole when you’re not using the g-tube, broke off. It happened on a Sunday morning when we had a lot of things going on, so I just made a temporary plug by taking a plastic tube tip, heating it and pressing the end closed. Well the new plug worked better than the old one and her rash cleared right up. It worked so well that she’s still using it.
Today, Kumiko is five years old. Kumiko has been hospitalized three times, most recently in December of 2005 at Kaiser, her worst episode so far. At first, she was just vomiting and was admitted as a precaution. The next day after tolerating her formula, they released her because her tests indicated no elevated MMA or ammonia levels. 36 hours later, when we arrived at the emergency room again, Kumiko was lethargic, vomiting and dehydrated and definitely on her way to a crisis. Although we keep a copy of Kumiko’s protocol letter in her “hospital bag”, we were so panicked we forgot to check to make sure it was still in there. Instead, it was with her discharge papers from the previous day and there was a delay while they got hold of Kumiko’s Metabolic Doctor. Too late- Kumiko went into a full blown crisis and needed transport to PICU at another Kaiser facility. She was there almost two weeks. Although she had been able to walk and was working on getting up stairs, the crises caused her to regress, and she has had to learn to do it all over again. She is a tough little girl, and works hard to make progress. She is just starting to work on stairs again, although she s still wobbly and weak when she walks. Her speech seems unaffected, and she is just starting to use two word phrases. She still likes to sing songs and listen to music.
We just wanted to end our story by saying that when Kumiko was first diagnosed with MMA, it was frightening. One of the scariest things was how little information was available. I don’t mean technical information like what is going on with her metabolism, but simpler questions like what kind of life she might have, and what to expect. When we found the Organic Acidemia Association and read what other parents had written about there children, their progress, and what their lives were like, it was a great relief. So, now it is my turn to try and help others with Kumiko’s story. If you are a parent with a child recently diagnosed with MMA or similar condition, believe me when I tell you that while everything might seem overwhelming at first and there is always some stress, soon it will become easier. Good luck!
Chris, Mina and Kumiko
Woodland Hills, CA
From the Summer 2006 OAA Newsletter