Sienna

​MMA, Cobalamin C

I had a normal pregnancy except for only gaining 9 lbs and having morning sickness every day. The last 2 weeks the doctor noticed that Sienna had stopped growing so he induced my labor one week early. She was very floppy and not breathing for the first minute or so but then she seemed OK, although she only weighed 4 lbs 15oz. She was released after two days and we were excited to bring out little bundle of joy home. I immediately noticed that she was very fussy and only slept 6 or 7 hours in a 24 hour period. She also was having trouble feeding and it took her a long time to finish a bottle.

After about a month and a half I took her back to the pediatrician to discuss the possibility of her having reflux, which she id.

Before that diagnosis she was on 12 different formulas. The doctor also put her on medications for reflux which did not help.

When she was 2 1/2 months I knew something was seriously wrong. I immediately took her to the pediatrician and the nurse practitioner took one look at her and sent us to the lab to have her blood drawn as she was very pale. She called me one hour later to ask me to go back and have it drawn again because she thought the lab had made a mistake because her hemoglobin was only at a 6. It was redrawn with the same results. We were immediately hospitalized that night and did not leave the hospital for almost 3 months.

She had every test imaginable including, a sweat test, bone marrow extraction, tests for cancer, etc. The GI doctor who was seeing Sienna felt for sure that after all these tests it was some type of metabolic disorder but did not know which one.

Finally after two weeks we were given a tentative diagnosis of MMA with Homocystinuria, but by that time all her organs were failing. She was put on a vent and they were doing blood exchanges because her red blood cells were fragmenting. We were told to call our families as she was not going to make it thru the night. I prayed so hard that night asking God to please let her live and I would take her however he wanted to give her to me and I meant it.

She lived thru the night and started improving a little. At that time we were told that she would have to be transferred to San Antonio because there was not a genetic doctor in the Dallas Fort Worth area that could treat her so we were careflighted 5 hours away. She was still on the vent. Although she was improving she was still a very sick little girl.

The genetic doctor in San Antonio said there was very little information on the internet and what little there was, was very grim. At the time of diagnosis we were told there were only 19 children with this diagnosis and that several had died. We saw so many doctors and she also had surgery for a central line, g-tube, and a fundoplication for reflux.  Because she had not fed by bottle for so long she had to relearn how to feed. We were told that she would be protein restricted, be in and out of the hospital, and would probably have significant delays.

She was released almost 3 months later on special formula with 24 hrs feeds via the g-tube and several medications. She was immediately seen by genetic doctor Lewis Waber at Dallas Children’s Hospital. He said he never received a call asking if he would see her as a new patient three months before. She only had her g-tube until she was 6 months old.

On the 28th of October, Sienna turned 13 and is such a blessing to our family. She has never been hospitalized since that time. She is also not protein restricted or on any special diet. She is slightly delayed academically but does very well. She has retinal degeneration and has very little vision. She cannot read text so she reads and writes Braille. She is a very smart little girl!

I feel so blessed to have her in my life but sometimes wonder what her life would have been like if Newborn Screening were available in 1998. Maybe she might not have suffered the crisis that almost ended her life.

Misty Garcia D         
6921 Misty Meadow Ln.
Arlington TX 76002 USA
817 991-2578 (cell)
gilandmist@tx.rr.com

From the October 2011 OAA Newsletter