Family Resource Network
Aaron was born on February 4th, 1999, as one of a set of twins after a perfectly normal pregnancy. The
pregnancy was wonderful. I gained weight appropriately and felt great. To have two babies moving
around was glorious even though Aaron (baby B) did not move as much. Everyone attributed that to the
differences in the babies.
At eighteen weeks, after the suggestion of my doctor, we went September 11, 1998 for a Level 2
ultrasound. The doctor discovered that Aaron had a bilateral cleft palate and his wrists were
contracted. He said that he could not determine what this was but because there was more that one
anomaly that something might be up.
I continued to have monthly level 2 ultrasounds. At 28 weeks I started have twice-weekly regular
ultrasounds and stress tests. They were mostly fine. Aaron sometimes did not speed up his breathing
movements. He still did not move as much either.
On Feb 2, 1999, I was induced. But things just didn't progress. My doctor suggested it was time for a
c-section. Baby A (Sean) was born. The room was full of hustle and bustle. Then the room got quiet
when Aaron was born. He was not well. He did not breath well right away. They showed him to us and we
were prepared for the bilateral cleft palate. It was severe. They immediately took him to the NICU.
They sewed me up and brought me to recovery. Sean was 8 pounds 14 oz and Aaron was 7 pounds 3 oz.
Our pediatrician came in when I was nursing Sean to give us an update on Aaron. Initially they thought
he might be blind because he did not react to the lights, he was floppy with little muscle tone, his wrists
were contracted, and he had to be intubated because he wasn't breathing well. The doctors thought that
he might have a trisomy of some sort. They did a chromosomal test. We met with the neonatologist on
duty and with the geneticist. They both came to the conclusion independently that Aaron probably had
something called Oto-Palatal-Digital Syndrome (OPD). But it was so rare and was no test for it. They
also told us only 9 babies had ever had this and that 6 were dead, 2 were institutionalized and the other
was a boy in England with severe handicaps. We later found out that there are a lot of babies with this
even though it is very rare. Case studies are the only way statistics are kept and how doctors are kept
informed about any given problem. It turned out that a good friend of mine's cousin's son has OPD
(Joseph). They also told us that if Aaron had a trisomy there was nothing that could be done and since he
was intubated a decision would have to be made about life support. It is ironic that an amnio would not
have picked up on his many problems. It takes a major problem to show up on the chromosomes; breakage
or something like that. His were intact as far as the doctors could tell. Meanwhile Sean was perfectly
fine and thriving.
Well two days later, Aaron made that life support decision for us and spit out the breathing tube and
continued to breathe on his own. He needed oxygen but was breathing. He was quite the little fighter.
I brought Sean home and Aaron was transferred to a hospital where my husband happened to work. It
made it very easy to visit him. I breast fed both babies although I had to pump milk for Aaron. It took
a while for him to get a hang of the special cleft palate bottles. But he was aspirating milk and not
gaining weight well so a nasal tube was used for his feedings. A tracheotomy tube was put in because
his oxygen saturations were not stable and doctors thought that his cleft palate was making it hard to
breath. A gastronomy tube was also inserted for his feedings. After that surgery I finally got to hold
both twins together. In the meantime we found out the constellation of problems that he had. He was
still floppy so probably would be diagnosed with cerebral palsy, his brain was undeveloped, he never cried
(even before the tract), the doctors were not sure about his hearing, his eyes, his fingers, hands and
wrists were contorted, he would have needed many surgeries to correct all of his problems. He had many
other problems including heart enlargement, an ASD, his fontels were closing prematurely, hearing
issues, and uncontrolled hypertension. He had several cycles of being on and off oxygen.
But what started the beginning of the end was that his heart was unusually enlarged. He had
hypertension that was not controllable with medication. His kidneys were fine which is the usual cause
of high blood pressure in babies. His heart just got worse and worse and soon he was on 100% oxygen.
We were told it didn't look good.
We also had to make decisions regarding his care. What would we want the doctors to do if he coded.
We had to decide that we would let him die peacefully. Since it was going to happen and there was
nothing that could be done to stop it, then we could at least control how he died. We had the doctors
institute a Do Not Resuscitate order (DNR). That was the hardest decision we ever had to make. How
do you just let your child die? But his death was going to be peaceful, not with someone banging on his
chest administering CPR. We were making discharge plans so he could die at home. It seemed that he
waited until we had support and then quickly but gently died in the arms of one of his beloved nurses,
Donna, on May 17, 1999 at 7:25 in the morning. The nurses were wonderful this whole time. They were
so supportive and came to love him like their own. All of his nurses and several of the doctors came to
his funeral. The nurses arrived each carrying a white rose that they put together in a vase next to his
coffin. It was absolutely beautiful. I can say that I have never felt that kind of support in my life. It
was stunning. I can say that we actually had a good NICU experience despite the fact that Aaron died.
No one could want more for a child who was unable to come home.
It has been four years now and we miss him horribly. We have learned a lot about OPD and want to learn
more. You can contact us at firstname.lastname@example.org.
Update: May 2003
Since writing this, we have received news that Dr. Robertson has cloned the OPD gene and that Aaron
did not have the mutation. Dr. Robertson says he has many families and patients that appear to have
OPD like symptoms but do not have the mutation. He is still working on this. Therefore it is important
that people get tested to see if they do indeed have OPD and that is possible now.
We are back to square one to find out what caused Aaron's problems but we will continue to look. Again
please contact us if you would like to discuss OPD. email@example.com