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​Delany and Nathan

 

Delany & Nathan

MMA Cbl B

It has taken me a while to get the courage up to tell you about my children.  Sometimes I often read all the stories and wonder why we are so lucky.  But then I realize we have our medical problems just like everyone else. 

It all started back in October 1998 when my daughter Delaney was born.  She started to grow and develop just like any other child her age.  Then on September 23, 1999, just a month before her first birthday she was at the babysitters and we got a phone call.  The babysitter said she was not drinking or eating and had not had any wet diapers.  I immediately contacted my pediatrician for an appointment; she said to come in right away.  My husband, Shawn took her and was immediately sent to Bay View Hospital for evaluation and hydration.  When they got to Bay View she was given a room and started IV’s.  As she started to get better her blood tests were still coming back off, our pediatrician knew something was wrong and started genetic testing.  When they got back a preliminary result of MMA she was transferred on September 28th to Johns Hopkins University Hospital (JHU).  After counseling, perfecting her diet, and teaching us how to make the formula and count all the grams of protein we were released on October 2nd.  Her skin biopsy went to Canada and several weeks later confirmed she was MMA Cbl B.  She was then stable and we were sent home from the hospital.  In the hospital she started to cruise the furniture it was very exciting and promising.

Then in March of 2000 everything changed.  She suddenly became ill; I think when Genetics told us she could become ill very quickly we never realized how quick it could get worse.  Within hours of a fever and not being able to hold down liquids, we called the pediatrician and she told us to go to the ER at JHU.  She called to let them know we were on our way.  On the way I contacted the hospital and had the genetics on-call paged.  She had a seizure on the way to the hospital and then another one in the CAT scan machine.  That night was the longest night of our lives around midnight when hemodialysis was performed to strip the MMA from her blood supply, and then she was given blood.  Finally sometime the next day we were told she was becoming stable slowly and her ammonia levels were coming back down.  After 10 days of being in the PICU she started to fully heal and become metabolically stable, they realized something was wrong.

She was then transferred to Kennedy Krieger Institute (KKI), which is across the street from JHU.  As she began to recover they started to run tests because she was not moving, swallowing, or talking like she was doing before she got sick.  The MRI showed damage in her brain.  The doctors at KKI said she suffered “bilateral globus pallidus infarcts”. This means she had the equivalent of a metabolic stroke that only affected her muscle tone. As time passed we realized the muscle tone affects everything: talking, swallowing, moving and pretty much all activity she use to be able to do.  Ten days later she had a g-tube placed.  KKI said they only knew of 2(two) people with this and that one was a little boy and is still the same way as when he was affected and the other was a little girl and has since graduated from high school and drives.  So it was not much for me or them to go on.  After tests they said her muscle tone went back to that of a 6-month-old.  We spent another week at KKI getting, PT, OT, and other services.  Finally since we live so close they allowed us to go home and they treated us as outpatients.  They had PT, OT, and Speech come to the house and treat her. 

She had KKI services until she was old enough to be eligible for the Baltimore County Infants and Toddlers program.  When the County services took over she went to a half-day program 3 times a week.  I cried the first day we dropped her off.  There she continued to receive services at the school.  When she turned 3 she started a half-day program five days a week at a local Elementary School, it was a Special Education Preschool Outreach program where she received PT, OT and Speech.  She was in that for 2 years.  Just before the kids let out for the summer break they began to talk to us about mainstreaming her into a regular Pre-Kindergarten class at her home school.  That was one of the hardest decisions we had to make.  We had her evaluated by KKI to see where she was mentally.  She did very well; she fluctuated depending on the topic from a 3-year-old to a 5-year-old.  We often had to remind ourselves that there was a time right after the stroke where she was a baby again and she just missed out on some things and just did not get it and needed a little more explanation. 

Both Principals always told us she could go back to the special education program if we agreed the half-day Pre-K was not for her.  The Pre-K class was in a school that was just built 3 years earlier.  The room was twice the size of the other school so it could accommodate all her special equipment.  I remember the beginning of the school year when we met the teacher and went over her IEP (Individualization Education Program) when they all seamed scared to death of her, afraid to touch or talk to her.  I told them they would not break her and to relax I am always around.  That year was a very successful and emotional year.  I remember at the end of the year her teacher telling me that she was very happy and proud to have Delaney and have taken part in the inclusion process. 

This year she is in a regular all day kindergarten class and the kids love her (like the previous years.)  The kids fight over who will sit next to her at lunch, circle and snack time, push her and ride on the small lift bus for field trips. They had to come up with a list of the kids in her class and they changed kids every day, that seem to make things fair so all the kids would have a turn with Delaney.  She is learning to read and write with the class.  She understands all the units and the material in the units. This fall she will go to first grade.

She still does not crawl or walk, but she just got a power wheelchair, which she is very excited about.  She has started to be able to hold some weight up with her legs.  She can sit unsupported on the floor for a couple of minutes.  She has been doing Therapeutic Horseback Riding now for 3 years.  It has helped to build up her confidence and muscles.  At school she has an IEP and she gets PT, OT, and Speech therapy all through the school system. She also gets an assistive tech teacher- because she is getting a laptop provided by the schools to aid in writing. She has an adaptive physical education advisor who stops by the school to make sure she is included in activities and helps to come up with ways to include her.  She also has a personal aid at school who helps her to write, go to the bathroom, transition around the classroom, and any other help she needs.  Nancy, her personal assistant, has been with her for three years now and will continue with Delaney as long as needed.  She also has special seating, a gait trainer, leg braces, wrist braces, and various other fine motor gadgets.  She has mild dystonia in her arms, which causes her to posture in weird positions and makes writing and other fine motor task hard, she takes Trihexyphenidyl, also known as Artane for this. Overall she is very healthy and happy; she is your typical 6-year-old.  Even though she cannot crawl or walk her mouth makes up for it.

This year on January 13th we had another child.  We knew the chances of him having MMA when we got pregnant. Genetics said there was nothing that cold be done while pregnant to treat it and if we were not going to terminate there was no reason for us to have an Amino done.  So we decided against the Amino and opted for our Fellow to be on top of things when Nathan was born.  We had a plan in place.  The Fellow wrote a letter to the Nursery where I was giving birth with instructions on care and immediate testing.  He also spoke with my OB and explained everything to her.  We were all on the same page.  I also had a copy of the letter to take with me to the hospital.  For us it did not matter if the baby had MMA or not.  We figured we already had one with it, what was another one.  All we knew was if it came back positive we knew what was ahead for us.

Nathan was born on a Thursday evening at about 5:30 pm; Delaney was not able to see him because by the time she made it to the hospital he was in the Nursery. The next day the Genetics Fellow at JHU picked up his urine sample at about 10:30am from Mercy Hospital and took it himself to KKI for testing.  I then received a phone call at 2pm, less than 24 hours after birth, from the Fellow and he said to stop feeding him the formula and that he had already made arrangements to have him transported to JHU NICU for MMA.  We were at JHU by 4pm and I was released by my ob, with strict instructions.  When we all got to the NICU we were greeted by the Genetics on-call and his Fellow.  My daughter had to wait until Sunday afternoon to see him because of the NICU visiting hours and then she could only visit for 3 hours.  She was crying when she left.  Everyday we spoke with genetics while in the NICU.  The news was devastating, but we knew the chances when we got pregnant.  He spent almost 3 weeks in the NICU trying to get the formula right and him to cooperate and drink from the bottle.  After we were released we went every week to JHU for testing and follow up.  Then every two weeks, now we go every three weeks.  He is doing very well. He is trying his hardest to rollover.  He is 16pounds 4ounces and is 25 ¼ inches long.  He chews on everything he can get his mouth on and he has just found his voice.  Now he will sit for hours talking and changing the pitch of his voice. 

Delaney is on 75 cc of Cytra-2 (generic of Bicitra), 20 cc of Levocarnitine 10% (generic of Carnitine); she gets 100g of MJ80056 and 1/4 tsp. salt in 65ounces of water in 24 hours.  She also gets 3- 4cc doses of the Artane and 5cc of Bactrum (a precautionary dose because when she was admitted to the hospital both times she had a Urinary Tract Infection and ear infections.)  She also gets a 4ounce jar of baby food stage 2 bananas a day.  Since her liquid volume has been so high she does not drink it, she never gets thirsty because her body is so well hydrated that she does not know what thirsty feels like.  I think having the g-tube has helped keep her stable.  Some of her favorite foods are fish sticks, all beef bologna, hotdogs, mashed potatoes, garlic bread, and chips.  On occasion she will sip a chocolate yoo-hoo or water.  She eats 12 grams of protein by mouth in the 24 hour period.

Nathan is on Cytra-2, and Levocarnitine, he also gets a mixture of formula consisting of PFD1, XMTVI Analog and Enfamil ProSobee LIPIL in 28ounces of water in 24 hours.  His medication and formula amounts change every time we go to Genetics.  Right after birth he was on iron but his numbers are better and he is off it now. We are in constant contact with the nutritionist because of his growth. 

Now for Shawn and me, this year was our 10th Anniversary and we went on a wonderful vacation alone for a week.  Our parents shared responsibilities for the kids for the week.  They now appreciate everything we do for the kids and realize how deserving our vacation alone really was.  Everything went well with the kids but we were ready to come home to them.  For our sanity we have a hot tub and we just bought a pool.  We try to get out at least once a month on a date with no kids.  We share equally in all home and family responsibilities.  I am a stay at home mom and Shawn does realize that there are times I need to go out and be by myself.  I go to Curves to exercise three times a week and go out with the girls.  Shawn is a paid and Volunteer Fireman at two different stations.  So he has to go to the Station on pager calls and to pull duty.  We are both officers at the Volunteer station, so Delaney likes to go and attend the meetings and just hang out.  They love to pass Nathan around and play with him.  The Volunteer station like the paid station is also our family.  

The year before Nathan was born I miscarried a child at 6 weeks.  I often wonder if that child had MMA.  But now I look at my two beautiful children and would not change them for the world.  We have learned all kinds of wonderful things from Delaney and hope to learn from Nathan too.  Having two children with special needs tends to keep us on our toes.  They are a constant reminder of how precious life really is.  We feel that we are lucky to have them in our lives. 
 
Christine, Shawn, Delaney and Nathan
Baltimore MD

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