We are the McConnie’s from Puerto Rico. My name is Idalia (32 years old and a teacher of interior designer at university) and my husband’s name is Julian (35 years old and a construction contractor). We have 9 months old twins. We all have CF.
We know our story is crazy; it is against all odds. Julian and I met 11 years ago and we fell madly in love with each other. We were married 6 years ago. We had a great marriage, jobs, a beautiful house, and 10 dogs. Our favorites are a mutt that we rescued from a parking lot, and an English pointer that we show in conformation. Last year he was the #1 dog in Puerto Rico. He has 6 championship titles and has traveled all over the USA being shown. He has also been shown at the Westminster Kennel Club.
But no kids. We desperately wanted to have children. We tried all the conventional methods, and even the non-conventional. (One day perhaps I’ll write about them and you can all have a good laugh).
After 4 years of trying to conceive, we were referred to a fertility specialist who diagnosed (big surprise) that we were both infertile. The Doctor started me on mega doses of steroids and hormones that drove me crazy. On December 19th of 1997 I was artificially inseminated with 2 embryos conceived out of my husband and me. This specialist or maybe us never bother to check the reasons why we were infertile. The outcome would have been different. The two embryos took and I had an awful pregnancy.
The obstetrician could not for the life of God find what was wrong with me. The had me in bed since the 12th week (no unnecessary movement). The put me on at least 10 different medications, hospitalized me with premature contractions 6 times, hooked me to monitors and oxygen, etc. We should have realized that this was not normal, but the doctors kept saying that all this was normal with twins.
The babies were developing normally, but Mariana was losing her amniotic fluid and she was not moving and that was concerning the doctors. Finally the babies were born on August 10th, 1998; it was a C-Section and it was done because Mariana lost all her amniotic fluid. Mariana weighted 4.5 pounds and Julian 4 pounds. They were the most precious babies I have ever seen. The first grandchildren on both sides of the family and they were “healthy”. The happiness and peace of mind that we had was unmatched. Julian had a good suck and took to breast-feeding instantly. Mariana had a little trouble managing the sucking but with a few lessons from a breast feeding specialist she was fine. They both started to slowly gain weight, and they both release their meconium fairly easily.
We took the babies home when they were 4 days old. I had no idea of what I was doing and neither did my husband. The babies cried all the time and I could not seem to manage two babies at once. Then when the babies went to their fist check-up with their pediatrician the doctor noticed that Julian’s belly was huge. Needless to say, we took the baby to specialists (Gastro, Internist, Radiologist) and they said that he was lacking the muscles on his belly, and not to worry that it was something common on premature babies. (Yeah)
From then on our babies went through “common” development and every time their was something strange it was blame on their prematurity. Early in November Julian, Jr. got a terrible cough and started to loose weight, and the doctors could not figure out what was wrong with him.
Early in November, Julian, Jr. got a strange cough that only happened at 2:00 AM. It would scare us to death, a few times he even turned blue. We saw five specialists and four pediatricians and to make things worst Julian, Jr. stopped gaining weight. The pneunomologists had five different diagnosis. One was that he was allergic to dogs. Our poor dogs had to paid for the doctors lack of knowledge. Needless to say my husband built another set of kennels; this time away from the house so the dogs hair would not make the baby sick. Another was that the baby was allergic to pollen (I know it was November, but remember we live in the Caribbean, so we have pollen all year round). Julian being the diligent father that he is, took out every single plant, bush and tree, he only left the grass. Another diagnosis was that the baby had reflux, so we put little Julian trough a battery of test that came out negative. I could go on and on all the diagnosis. The worst part was that the baby kept getting sicker and he was deteriorating rapidly. It became a lifestyle, we would wake up at 2:00 AM, get in the bathroom (to steam the baby) until the coughing stop, by then it was usually 5:00 am. Breast-fed the babies and then got dressed to go to another doctor or specialist.
December came and the doctors were running out of options, the baby was coughing all the time, and he only weighted 7 pounds. He lost all appetite and stop moving. We decided to take extreme measures so we had the baby hospitalized. The IV was keeping our baby alive. The doctors even started to prepare us for the “worst”. The one thing that worried us the most is that we still did not have a diagnosis.
One doctor said that it might be something genetic, and advise us to look into our pedigrees to see if their was something in there that could help us. That was something easier said than done because my husband is adopted. This was a secret in his family and even though he suspected that he was adopted he was not certain. He confronted his parents with this. At first my in-laws denied that he was adopted. Can you imagine my baby lay motionless and dying in a hospital bed and they were guarding a secret. Finally after everyone called them everything imaginable in the dictionary they gave us the names of his birth parents. We immediately started to look for my husband’s birth parents. (This is something that I’ll elaborate on another posting).
Our friends started to do chains of prayers and we had 3 and 4 chains running at any single time. Instead of praying for a recovery we all started praying for a diagnosis. God was listening to us and spoke to us through the mouth of the crankiest doctor that I have ever met. We were all praying at the hospital room, when a Gastroenterologist, that we had placed a consult with, walked in. He went directly to the baby’s crib looked at the baby and said this baby has CF.
We were stunned, he did not even looked at the chart. We ask him why he thought that the baby had CF and his answer was that the baby’s father had yellow eyes. Can you all imagine a respected doctor diagnosing CF just because someone has yellow eyes. But, as you can all imagine by now, CF was the answer.
This is where our worst troubles began. There are only 48 cases of CF in Puerto Rico, the only CF Center in existence in the island had closed for lack of funds, and there are no CF specialist in Puerto Rico. My husband said that he was not keeping the baby hospitalized here because he was going to die, so we all flew to DC (Children’s National Hospital Center). Finally our baby was on his way to recovery. Little did we know that we still had more bad news coming our way.
Mariana was tested there to rule out CF. She is a healthy baby and through all her brother’s illness had behave like a trooper. There came a time where we thought that she thought that my mother was her mother. She grew up an outgoing baby and really happy considering we were not always there for here.
Mariana’s test came back positive. Devastating news. I thought that I had no more tears to cry. My husband chew his nails down to the skin. At this time doctors recommended a DNA Test for all of us. They had different reasons why, but one was that they suspected that our sterility was due to CF. We were not worried because we had been fairly healthy all our lives and my husband was 35 years old, weighted 230 pounds, and his height was 6’2″, but he has had a few episodes of strange diarrhea that would not stop and he gets coughing spells. I have asthma sporadically and as a teen had a lot of health problems but most went away. Plus we had both smoked for more than 12 years (I stopped smoking two years ago). It was impossible.
We were sweat-tested, and my husband came back positive and mine was negative. At this point I was on tranquilizers just to go through the day. I even wished that my test came back positive just so I would not loose my entire family and be left behind. I still cry when I remember this. I know it was stupid reasoning but I just could not handle the news. I was mad at everyone, the doctors, my family, my in-laws, my fate and God. A psychologist from the hospital started treating me for my depression, and tried to keep me functional for my family. Our friends tried to console us but there were not words enough to do it. Everyone kept telling us not to despair that God does not send people problems that they can’t handle, but we did not want to handle this.
My husband and I went through the stage of blaming ourselves. Worst of all we started second guessing ourselves, and the “what ifs” started. Then the DNA test came back, and my test came back positive. I was relieved, but it was devastating for my parents. My siblings were tested immediately. My parents were furious at all my doctors, there I was 32 and no doctor had diagnosed it before. (We now know my sister is a carrier, and my brother has CF.)
My parents flew to DC to help us but mainly I think that it was for their own reassurance. It was very hard for me to see my parents crying, my father got disfigured and got every imaginable nervous tick. It is funny how each person deal with stress differently. My brother is in complete denial.
The hospital in DC was excellent and we received every care imaginable. Little Julian got physical therapy (he had stopped moving in PR), and we all got emotional therapy as well. The doctors went into every detail of our illness and explained every little detail to us. We also got a lot of support from the other CF parents and patients there. It did us a lot of good to see other healthy CF’ers there. We ended up staying for 2 months in DC. I did not want to move back to PR, mainly because there were no doctors to treat us here.
We are back in Puerto Rico. The babies are doing great now. Julian, Jr. has doubled his weight in 3 months (remarkable), he has no more coughing and loves to eat. He started crawling last week, and he wants to get his hands on everything. He is still receiving physical therapy to help him regain his muscle tone and even says MAMA. Mariana is a fiery redhead, and she is also the life of the party. She enjoys people and loves to be played with. She has not shown any symptoms other than greasy stools. They all sleep through the night. Considering what they have been through they are doing great; though little Julian starts crying when he sees someone with a white robe.
My husband Julian found his birth mother. They are planning a reunion to meet next summer. She is a lovely person that was down on her luck and had to give him up for adoption. She does not have any other children and is an only child herself. She is very happy that he found her. They talked on the phone for hours, and it was like that had known each other all their lives. He is also selling his construction company and he is going back to school so he can work at something that does not make him sick.
I’m doing fine. I get asthma often, but now that I know what I have I’m coping much better. I’m also teaching Interior Design at a local university. We are all receiving emotional therapy with a local psychologist and it is doing us a lot of good. Life has gotten back to “normal” (if enzymes, chest PT, respiratory therapy, etc. are “normal”!). Even the dogs are happy that they have been vindicated. I even forget sometimes that the babies have CF; who knows, maybe my babies will live a life as wonderful as ours. We are still thinking of moving to the states but we have to get all our affairs in order. We have found a pneumologist that worked at a CF Clinic when she was doing her residency and she is willing to work with the doctors in DC.
By the way, here’s a tip that helps us: my husband and I practice dog conformation and agility. If you have a dog the entire family can do it. We usually practice 3 times a week for an hour. We enjoy it and the dogs love it. I think this is a great exercise and sport for someone that is not very athletic. It is a sport for all ages, sizes, and abilities.
Agility training consist of an obstacle course that you have to do with your dog. It is a lot of fun especially if the dog does it better than you. There are tunnels, sew-saw, jumps, airwalk etc. Your dog does not have to be AKC registered to participate. Conformation consist of showing the best physical qualities of your dog; it is call handling. The American Kennel Club offers competition for Junior Handlers. The children learn responsibility and competition. They do not have to be athletic, and they could use a size of dog that fits their needs. Last year we had a boy that had cancer and could not run, so he trained with a terrier (terriers are not run inside the ring). The hard part about this is finding a suitable dog, but many breeders have retired champions that could be adopted for this purpose. We recently gave two champion pointers for adoption to two junior handlers.
The classes are offered for free by most Kennel Clubs. You can find out more information at the American Kennel Club website (www.akc.org) or at www.infodog.com. I suggest that you take a field trip with your family to a local dog show. Get there early and talk to the exhibitors, it will get your kids interested.
— From messages posted by Idalia to Cystic-L in May and June, 1999