Maren

Propionic Acidemia

Maren Winter was born on February 13, 2012.  She weighed 8 pounds 6.5 ounces and was 21 inches long.  She had a bit of peach fuzz for hair and was chubby as chubby gets!  Maren was home for two weeks growing, eating, and sleeping.  We received a call on a Saturday afternoon while we were at a birthday party for a friend’s daughter.  The doctor was local and told us he was calling to check up on Maren’s well-being.  We let him know everything was well.  He then stated he was calling due to an abnormal value on newborn screening.  Apparently, Maren had elevated C3 numbers.  This doctor could not really tell me what that meant at the time.  He said we would be contacted by Children’s Hospital later that day, and, we were.  But, before they called, I made the mistake of researching “C3” and its indications.  I was able to read and learn about some conditions called Methylmalonic Acidemia, Propionic Acidemia, and biotinase deficiency. So, when Children’s did finally call, I understood all too well the words that slipped out of the counselor’s mouth….“positive for Propionic Acidemia.” ​

We were at Denver Children’s first thing Monday morning.  We were educated about the disease and were taught how to care for Maren.  We were absolutely devastated.  I don’t even truly remember the entire appointment because I was so grief-stricken and shocked. These early days were the darkest most tortuous moments of our lives.  There were times I cried for my daughter, and there were times I cried for myself and the family I thought I would have.  I had some extremely selfish moments where I felt angry that this was “happening to me.”  You couldn’t pay me any amount of money to return to these moments in my life.  They have been our darkest hours.

Maren had a fibroblast assay done and was shown to have at least 1.8% residual enzyme.  She has one mild mutation, a missense mutation.  She also has one severe mutation, a frameshift mutation.  Both mutations have been seen independent of one another in two other cases but not both together in one child.  Both of those children were considered to have the late onset variety of Propionic Acidemia.  Maren has not had hyperammonemia issues.  She has been sick many times with little bugs here and there but never anything too serious as of yet.  She has had one hospital stay due to a stomach bug.  All milestones have been met or even exceeded. Maren was walking at 10 months and running at 11.

It has now been two and a half years.  Maren has been doing very well.  She gets a monthly blood draw now to check her amino levels.  She eats by mouth approximately 8.5 grams of protein through food with the rest of her protein being in her metabolic formula.  She takes 23 mLs of carnitine as well each day.  She is only now beginning to tell others that she has “PA” and is beginning to decline foods that are not part of her diet.  Just last night she told her 8 year old brother, Lyric, “I don’t eat that.  That’s not for me.  This is for me.”  Maren showed him her bowl of rainbow sherbet while her brother ate his vanilla ice cream with chocolate.

Lately our minds have been preoccupied with the discussion of liver transplantation.  Yes, WE, the parents of a more “mild” child (also called a “manageable case”) are considering liver transplant.  We have researched and researched and researched some more.  We have spoken with adult PAs and parents of PA children whose children were deemed mild and not eligible for a transplant.  There were some with regrets for not having advocated more aggressively as their “mild” children declined, died, or lost faculties.  We also spoke to as many parents of children who received liver transplants as possible and found that by and large many are thriving and are living a life symptom free.  Mild or not, our daughter is at risk every day.

We are considering auxiliary liver transplant for Maren.  Auxiliary liver transplant would have Maren retain her own whole liver while grafting a section of a cadaveric liver to hers.  She keeps her perfectly healthy liver in its entirety and receives an additional section that will make the enzyme she needs.  There is a lot to consider, and we have not made any final decisions.

The support my family has received from the OAA has been our main support.  Without the parents and families we have come to know and love, I don’t know how we would ever be able to do this.  Thank you, friends!

Scott and Honey
South Fork, CO
honeystecken@yahoo.com

From the Fall 2014 OAA Newsletter