David was born
on Sunday, June 14, 1992 at 1:30 a.m.. There were no complications during the
pregnancy, and so we expected to give birth to a healthy child. My water broke
(at 36 ½ weeks) and we went to the hospital. David was under distress
during labor, and we almost had to have a C-section, but did give birth
naturally only to find out that David's wall of his abdomen had not closed
properly during the pregnancy and his intestines were on the outside. After
getting to hold him briefly, the doctors and nurses rushed him out to care for
him. We waited while they were going to airlift him to the Neonatal Care Unit
at the University of Minnesota Hospital; however, they decided it was not that
urgent since his surgery would be performed later in the morning. We called the
priest, and he performed baptism at about 4:30-5:00 a.m. Then he was taken by
ambulance. I remained in the hospital for a day, and then went home. We drove
to the U of M the next day and made plans for me to stay in the cities for
about a month. The surgery went well, but he could not start regular food for a
month and received his feedings by IV. We felt quite fortunate when we found
that I could have a room at the Kidney House. The rooms were clean and they had
kitchenette facilities, and most of all, they were cheap compared to staying in
a hotel for a month. Later, when we found out about David's kidney related
disease, this seemed very fitting and ironic. About a week before David was to
be released, Holly got very sick. We thought it was the stomach flu. She seemed
to get better, but that night after vomitting; the pain was so intense that she
had to go to the hospital. The Kidney House is across the street from Hennepin
County Medical Center in Minneapolis and so we walked to the emergency room
about 3:00 a.m. The doctor on call that night thought it was just an infection
from having a baby, but after an intern from OB/ GYN examined Holly; she
determined that it was her appendix. It had ruptured already and needed to be
removed. Finally at 11:00 a.m., she went in for surgery. We transferred to the
Univ. of MN so that we could be near David, but in two days, he was released.
David was 5 pounds, 11.1 ounces at birth and was 19 3/4 inches long. When he
was released a month later, he weighed 7 pounds, 10 ounces, and was 20 inches
long. Holly wasn't released for about 5 more days. 
One
month later, David wasn't sleeping, and he would cry unless he was laying on
one of us. So he went in for a hernia operation which was necessary to close
his abdomen completely. We knew that he would need the second operation, but
they had told us that David would be about 6 months old and so we were not
expecting complications quite that soon. That very night, Holly developed a
high fever. We drove back to Mankato (the hospital closest to our home) and the
next day, the doctor examined Holly only to discover that she had about a pint
of infection in her from her appendix rupturing. The doctors at the University
of MN did not send her home on any antibiotics and obviously, the infection was
still there. So she went in the hospital for another week and was sent home
with a catheter for the week after that. At two months, David weighed 9 pounds,
9 ounces and was 22 inches long. We thought that the hard part was over and he
would be like any other healthy child.
At his six month
checkup, he had gained weight and was growing. He weighed 14 pounds, 14 ounces
and was 25 inches long. This was double his birth weight.
At nine
months, he got the stomach flu and bronchitis. He was on a nebulizer three
times a day and went for about a month throwing up everything except Pedialyte
and juice. At his one year checkup, he had made some progress. He was 15
pounds, 4 ounces. It was always easy to blame his failure to thrive on his
operations, his illnesses and being a month premature. David was not walking.
He would grunt when he crawled. He would stand next to the couch, but his feet
were pointed so far out with his heels next to each other just to be able to
support his body weight. It was detected that he was spilling a very small
amount of glucose, but that was downplayed as not being a problem. Being a
first time Mom, I knew something wasn't right, but trusted that the doctor
would know if something was wrong.
(Unfortunate mistake!)
At eighteen months, our pediatrician called the Univ. of MN with our
son's symptoms. His urine test showed protein and glucose spilling out and he
only weighed 15 pounds, 8 ounces and was 27 inches long. The doctors at the
Univ. had us make an appointment with the opthamalogist and after looking at
their huge medical book, he made the diagnosis that the cystine crystals were
in David's eyes. Finally, we had a reason for all of his symptoms. The visit to
the Univ. of MN and following blood tests sent to San Diego only confirmed what
we had found out already.
David began Cysteamine at 20 months of age.
He was also on liquid medicines. He did not tolerate his medicines and we
struggled to find something to put with the Cysteamine to cut the bad taste.
Finally after trying tomato juice, Dan thought of Ketchup! This has been the
way David has taken medicine ever since. After his rocky start, David's rickets
healed, he began to walk and his labs seemed to be quite well (with the
exception of Potassium: this continues to be a struggle for us). We are also
struggling to get David to remember to take his eye drops. When he started, we
bought a watch that would beep every hour. He would tell us or just take them.
Now, he never hears the watch when it beeps and doesn't seem to remember to
take them himself. David is nine years old now and like every typical boy,
dreams of what he will be when he grows up that is when he is not thinking
about buying a Gameboy or Nintendo.
We had two
healthy girls, Bethany born June 23, 1995 (we did an amnio to find that she was
not cystinotic) and Tresa born September 7, 1997 (we sent the placenta to San
Diego to be tested). Then on August 14, 1999, we had Shawn. He was born two
weeks early, but was 8 pounds, 2 ½ ounces and was 22 inches long. This
was wonderful! He was in the 97th percentile. We sent the placenta to San Diego
and found that Shawn had Cystinosis also. We had prepared for this, but it was
still a blow; however, we thought that he would only have to take the Cystagon.
At 5 ½ weeks, Shawn began taking Cystagon. I began giving Shawn Cystagon
mixed with breast milk in a dropper. Then to help cut the taste, I added some
strawberry syrup. Now we dissolve the Cystagon & KPhos tablets with some
water & add strawberry syrup. Shawn remained at the 90th percentiles until
he was 5 ½ months old. Then he dropped to the 60th percentiles. The
doctors were still very happy with these numbers. This is when we discovered
that Shawn had Fanconi Syndrome also and he began taking Bicitra and Carnitor.
Shawn is still doing well. He is 2 years old and remains in the 30th-40th
percentiles. He is very strong and happy. We have struggled with his
bicarbonate level, but after switching some of his medicines; he is now in
normal ranges for that too. He walked at about 12-13 months and never developed
rickets. The vomitting occurred much less frequently than his brother and he
seems to eat much better. He is also less picky about the foods he is willing
to eat. Recently (now that he is in the terrible twos) we are having problems
getting Shawn to take his Cystagon / KPhos medicine & also his Polycitra K.
He spits it out, gags or vomits shortly after taking it.
Although we
often feel guilty for what the boys have to put up with, God must have known
what wonderful boys they would be and the joys that they would bring to our
family and those around them.
We are truly
blessed!
Dan & Holly