Kumiko Elizabeth Ariella Menopi Boscarino 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.

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 advanced age.  This pregnancy did feel different, I had a great deal of pain in the lower right part of my abdomen, but every pregnancy is different.  I also found that I couldn’t eat meat from around the 5th month on, but this too can be pretty normal.  Around the 7th month friends convinced me to really push soy, protein which I found easier to take, but still didn’t enjoy (although I do now)

Kumiko is the smallest of all my babies and the longest delivery.  It was all natural, no pain killers or episiotomy, and there were no complications during the delivery.  Her APGAR was 9 and they told me babies born in Denver rarely rate the full 10 because of the thin air.

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.

We still use Levocarnitine, brand-name Carnitor, to help Kumiko clean her blood of the methamalonic acid.  We never got a clear answer on whether this stuff is related to the L-carnitine that you can get at some health food or sports food stores, so if you know the answer please let us know. Sometimes Levo Carnitine gives your child a little bit of a fishy smell.

The doctors suggested that we have a gastro-intestinal feeding tube or “G-tube” installed in our baby so that in the future we can keep her hydrated even if she refuses to eat.  Normally with G-tubes, a “nissin” is also performed for acid reflux.  However, hey used some big machine downstairs and formula laced with radon to verify that her gastro-intestinal tract had no problems that would indicate that a Nissan was needed.

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.

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 go back and get another kind from a special pharmacy, and in the end she turned out to have a MMA type Mut 0 that doesn’t respond to B12.  On the other hand, they tell me that if your child responds to B12 it’s really important to get it as early as possible

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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).

The most important prescription was for the low-protein formula: Propimix from Ross.  The Ross folks were nice enough to also give us a nice bag and mixing jug.  I might seem small but during the stress of learning all these new things about our baby it did make us feel a little better to get that gift. 

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 big adjustment was the g-tube.  My husband and I both took the 20 minute class, but neither of us felt prepared at all.  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 once she was feeling better, 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.  We found that you have to go slowly and 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 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 Boscarino

6265 Canoga Avenue #39

Woodland Hills, CA  91367

818-999-2301

cboscari@sbcglobal.net