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Volume 2 , Issue 1 Date: Winter, 2002 Topic: Genetics:
Scientific Advances...Human Choices

Amazing Grace
(Story about Rebecca Grace)
by Sharon Terzian

I remember when I found out I was going to have Becca. She was our ‘surprise’ baby. We already had a boy and girl, 5 & 6, I had gone back to work, and then there was Becca. Expecting again at almost 40 was a shock in itself. I remember being miserable most of the time. She was breech the entire time, but also she wasn’t very active, which led to constant barrages of non-stress tests and ultrasounds to make sure she was okay. I refused all the other tests, AFP, etc. as I felt they unnecessarily worried you and were not accurate enough. I didn’t drink enough milk. I’m a vegetarian, so I didn’t get enough protein, but I was the same with my other kids.

So Bec was a planned c-section for April 1, 1994. But she had other ideas and sent me into labor around 11 pm March 30th. Since I’d had 2 previous sections, I didn’t know what labor felt like and kept denying that it was going on, until I just got too uncomfortable to wait. My doctor got stuck in traffic, and then had an emergency, she said she’d just do the section anyway and sent in the anesthesiologist. In the O/R, it was apparent that the medication didn’t work, despite the anesthesiologist telling me that I only felt pressure, not pain. My doctor finally yelled at him, got Becca out and then I was knocked out for a bit, so I don’t remember much about the birth. I didn’t get to see her for a while. Her cord had been in a knot, but they didn’t seem worried about that. When I did finally see her, she didn’t look like my other kids. She sounded very snotty and had pointy ears. We went home 5 days later. She cried constantly. Not the typical baby’s uncomfortable cry; it was more a distressing, painful kind of cry.

I have an older pediatrician, the kind that made house calls in the 50s and 60s. When you get to your 3rd kid, he feels ‘mom knows best’. I called him, yup, change that formula. In the first 6 weeks, we went through 6 formulas, even trying some totally hypoallergenic stuff that was $72 every 3 days. Nothing worked, she cried 20+ hours per day. I could and still can sleep through her crying. I bought a baby sling to carry her around in just so I could get some dinner on the table and maybe clean up the house. She would doze off for maybe a half hour, just out of shear exhaustion.

Then one night, she was unusually quiet, sitting on dad while we were watching the Sound of Music on TV. She suddenly stood up, stiffened, her eyes rolled back in her head, her mouth started to turn blue…we thought she was choking and started hitting her on the back, but she wouldn’t cry. We called 911, and off she went to the hospital. By the time we got there, she was just fine, but my pedi called a neurologist just to take a look at her and got her admitted to the children’s hospital. That’s when we found out she had a latex allergy. They had touched her face with a gloved hand and it looked as though someone had slapped her.

We then started on the testing. First there was your basic blood work, EEGs, MRIs, CT scans, spinal taps…. then came the biopsies, an endocrinologist sent her blood to a guy he knew in Saudi Arabia because they were more advanced in their genetics. After that first hospital stay, she got readmitted just to run a lot of these, they ended up keeping her for a month, telling us after the first week that they didn’t know what was wrong with her. She couldn’t gain weight and she was floppy. One day, a ‘feeding specialist’ came in and told me that it was my fault, that I wasn’t holding her correctly to feed her. My husband remembers me chasing her down the hall screaming at her. I can’t remember how many times I was asked if I drank or did any drugs while I was pregnant.

They finally gave her an NG tube, a feeding tube that ran through her nose, that seemed to solve some of the crying, helped with the weight gain, and we went home. Home became doctor’s visits, fighting with the insurance company, monitors going off all night, feedings, and weigh-ins. She never slept in her crib in her room. Never. The NG tube constantly came out; we’d be at the hospital almost daily to have it replaced. We also learned about a program, Katie Becket, which could help with the mounting medical bills. In 6 months’ time, she’d racked up over $90,000 that we were responsible for at least 10%. I couldn’t/didn’t work. At times, my husband and I would fight over having her tested ‘just this one more time’. But not having a diagnosis made dealing with the medical/insurance companies difficult.

She started rehab therapy; she started Early Intervention. Somewhere in there, I got away from my other kids. They stayed with dad while I shuffled Becca around to various doctors and appointments. She had 3 private rehab people, a nurse that came to weigh her weekly, an EI coordinator, 3 EI rehab people, her pediatrician, a neurologist, a GI doc, an allergist/ENT, a dietician at WIC, one at the hospital, one at EI, an endocrinologist, later, we added in a coordinated care pediatrician, GI, nutritionist, and geneticist in Boston, and now she has a geneticist in England, Utah, and at Johns Hopkins.

Over that summer, we also realized that the nipples that were used in her bottles were latex. No one else ever pointed that out to us. We found some silicone ones, and solved her crying and most of her internal bleeding. No more NG tube. She still always sounded ‘snotty’. We started to wonder just how severe her allergies were. We also started to realize just how on our own we were with this. We took her to a Boston geneticist as her neurologist had said she had a kind of ‘genetic’ look about her. After filling out a huge form, waiting a month for an appointment, then an hour for the visit, then spending another hour with a resident who asked us the same questions that were on the huge form, this doctor walked in, said he had no idea what was wrong with her and left - 2 minutes total of this man’s time. I started going to the library and sitting with the genetics books. I had a list of her characteristics. The extra epicanthal folds, dysmorphic features, failure to thrive…I had a whole slew of them. I would sit with the books and try to find something that was relevant to her.

We had weekly visits to the gastro clinic. They would weigh her and I would feel terrible that she didn’t gain. Around the holidays, she got really sick. The clinic did some testing and told me she had an intestinal blockage. They gave us laxatives, suppositories, and other medicines to try and move it. She got a lot worse and looked horrible. I had heard of a doctor, Nedda Hobbs, who works at Boston Children’s, who specialized in kids that didn’t have a diagnosis. A month earlier, I had called on my own, but didn’t reach her. I called up my pediatrician just crying, I really felt that they were wrong at the clinic. I had never done that to him before. He got on the phone and asked me whom it was I wanted to see in Boston. He called her and within 10 minutes, she called me back, asked a lot of questions and asked me to bring her up right then and there. It was New Year’s Eve, 1994. We all went up there. Since it was New Year’s Eve, no one was working. Dr. Hobbs proceeded to get docs out of the ER to come and check out Becca. Specifically, Dr. Athos Bousvaros, a GI doc, ran a couple of test and found that she had caught a bacterial infection. The worst part was that it could only come from someone not washing his or her hands after handling a child that had it already. Since they couldn’t use the gloves at the GI clinic down here, most of the time they wouldn’t use anything. So essentially, she had caught it from someone in the GI clinic who didn’t wash his or her hands properly. We were appalled and never went back to the GI clinic here.

It required months of intensive antibiotics. We found out during this time that Becca couldn’t tolerate any oral antibiotics. She would seize on them. She had had several ear infections over the previous year and had problems with antibiotics, but this long term, hard-core regiment showed us just how severe this was for her. She can have them as shots or as an IV, but not orally for some reason.

Dr. Hobbs then asked us if we wished to see a geneticist. After our last brush with one, we weren’t really sure, but decided to give it another go. We met Dr. David Whiteman. He was the total opposite of the other doc we had seen. He spent almost 2 hours going over every little thing on her. He then told us that he also didn’t know what she had, but that as she grew older, maybe she’d look more like a particular syndrome.

It was difficult not knowing what your child had. Explaining the constant medical visits and rehab appointments to people and the insurance company were the worst. Becca grew into this cute little person. She honestly didn’t look like she had anything wrong. We kept her bangs long, and still do, because when they are short, she tends to look ‘retarded’ for lack of a better phrase. Her speech was very delayed, she had hearing issues because her eustachian tubes were too narrow and she had constant ear infections, finally getting tubes at 10 months old, and replaced almost yearly to this day. She learned to sign and was generally happy. She finally walked when she was 2, mostly because of all the help she’d gotten at rehab. Her allergies were a nightmare. She couldn’t have anything with dairy or soy in it. We got her a medic alert bracelet. She was allergic to the nickel in it. She had her ears pierced when she was born. She was allergic to the earrings. There was latex in everything it seemed and the hospitals (back then) were not as informed on alternatives as they are now. Every time she had to go in, I’d have to pack everything for her: Silicone nipples, vinyl gloves from home, etc., and this was even if we had to go to the ER. Even the rescue guys would give us a hard time when they’d show up with the latex gloves on. She couldn’t even be in the same room or she’d start to break out in a rash.

It was a couple of years later that we were asked if we wished to see another geneticist. Dr. Whiteman had left, and Dr. Gerald Cox had come in to replace him. At that point, my attitude was maybe he had seen a child with what Becca had. Obviously whatever she had wasn’t common. It was in May of 1997. I had an appointment with Dr. Hobbs first, then Dr. Cox. After seeing Nedda, we were headed to the cafeteria when a man stopped me in the hall and asked if it was Becca. All he had ever seen was her medical records, and when he stopped us, he said he thought he knew what she had.

After lunch, we went up to see him and Nedda decided to join us. He proceeded to take out his genetics book and rattle off most of her characteristics. Out of 80 some-odd, Becca had 70 or so. He told us that he thought she had Dubowitz Syndrome. He also had seen another child with it. One of the reasons I hadn’t ever considered it was that Becca didn’t have the major symptoms of it. She’d never had eczema, but Dr. Cox pointed out that she had severe allergies, which eczema is a part of. She also didn’t look like any of the children pictured in the book. There were only 100 or so children with this. There was no gene. There was no support group. There was no test, just an educated guess. No one had ever heard of it. You should have heard my insurance company. At least we had something, other than ‘multiple congenital anomalies’ or ‘failure to thrive’. I started looking online, there wasn’t much. I found some information on the NORD website, and ended up contacting another family.

It was also during this time that I started looking into another line of work. I needed something very flexible, I had interviewed for the parent consultant at Early Intervention and didn’t get that, and then I got hired as the Assistive Technology/Family Support person at United Cerebral Palsy. I had been active in Early Intervention and also the Department of Education. I had learned a lot about IEPs and inclusion and having your child lead as normal a life as possible and I found that there were a number of parents that didn’t know about programs and assistance if you have a child with special needs.

I started to think that since this was so rare, the web was the place to be, so with another family funding, I designed a website for information and support. Unfortunately, one of the things I have had to learn is that there is a lot of discrimination even within support groups. Becca was doing so much better than most of the other children online, in particular the person funding the website, and unfortunately, some people had a hard time with that. I ended up resigning from the website after it was finished. I still have some contact with a couple of the families. In spite of that, during the summer of 1998, Dr. John Opitz, a world known geneticist, got involved with Dubowitz Syndrome. Dr. Opitz invited any family of a child with Dubowitz Syndrome out to Salt Lake City, Utah for a ‘Dubowitz Day’. They would try to get fees waived; they would do some blood work and store it for research. Overall, we would get a second opinion from someone with some knowledge of the syndrome, and if your child was mis-diagnosed, you would not just be sent away, you would be pointed to other testing and other doctors with good information in your area.

It was to take place the day after Christmas. I got American Airlines miles for kids to fund our airfare. UCP gave me money for the hotel. It all fell into place. The day of the visit, there were 10 families. 2 had already seen Dr. Opitz in the past and had confirmed diagnosis. I remember looking around the room and thinking that Becca once again didn’t look like any of these children. Then Dr. Dubowitz himself came in as a surprise. He’s older, lives in England, but decided to come out for this clinic.

Out of all the ‘new’ families that went to Utah, Becca was the only one with Dubowitz Syndrome. I asked them how they figured that. If you’ve even been on a genetics visit, this was so much more in depth than anything I had ever seen. They counted the hairs in a square inch of her head. They measured EVERYTHING. They had a magnifying glass out and counted the ridges in her little finger. Dr. Dubowitz said she definitely had the ‘look’, and who am I to argue with the man himself? He also told us that we were ‘very lucky’ as she is very high functioning, very socialable. In spite of them thinking that this is a genetic disorder, there is no gene, nor are they officially looking for one as there are so few kids and the kids don’t die from the syndrome itself. It is an orphan in the world of genetics. There are also only a couple of families with more than 1 child that has it. They have started to look at other things that can be tested instead, like T cells, B cells, stuff to do with the immune system. Becca is usually their monkey wrench, though.

The bad part about knowing is then you have to deal with the reality of the syndrome. These kids don’t have a long life span. There are no teenagers. There is one woman who is in her 30’s, but most of the kids die from aplastic anemia or leukemia before the age of 14. Apparently there is nothing you can do; their immune system just breaks down. We try not to think about that, we have her tested twice yearly for the leukemia, and there have been some breakthroughs over the years. We’ve learned that our pediatrician is not meant to be the expert, although he reads everything I give him and would do anything for Becca (I’ve seen him drop everything and get 2 hours behind for her) and tells me that he can’t retire because of her, he’s meant to keep her healthy and treat her when she’s sick. We have many other specialists that are in charge of various parts of her. We’ve also stopped having her ‘poked’ for someone’s entertainment value. I can’t tell you the number of times we’ve taken her to someone who wants to do blood work and then more blood work/tests because ‘she’s different’. We now choose very carefully when we’re asked for a sample or test from her, but over the summer, a family contacted me to say that another doctor wanted skin biopsies of any diagnosed Dubowitz child. They are looking at a cholesterol transport error, similar to what’s been found in the Smith-Lemli-Opitz kids. We did agree to that.

With Becca, even things like a flu shot becomes a federal case. This year for the first time that was brought to our attention, the stoppers on the vaccine were latex, meaning she couldn’t get a flu shot. There was one company that manufactured the vaccine with a silicone stopper, but that wasn’t the vaccine the Department of Health had ordered for the pediatricians in the area, so we had to find someone that had ordered it and then try to make a swap. We did finally find someone to do this, but it’s never easy. It also clarifies why she has a rash and reaction to childhood vaccines, once again, no one ever told us.

If I could offer some advice, it would be mainly to go with your gut feeling. If you think something is wrong, continue to look no matter what anyone else tells you. If you think someone has given you the wrong answer, ask someone else. If someone tells you that you cannot do something or tells you no, ask someone else, you’ll never know if it can be a yes if you never ask to begin with. Get everything in writing and keep everything. You never know when you may need something that you thought was unimportant a year ago. Keep an eye on people/services that are involved with your child. We caught the durable goods people (provided the feeding tube materials and medical supplies) over billing our insurance $1000 per week because I took the time to get the print outs from them and my insurance company and checked everything. We were also told that our insurance wouldn’t pay for her rehab, we asked for the denial in writing, the person wrote that they didn’t consider Becca ‘rehabilitatable’. We called the Disability Law Center and we won. To be sure, all this takes time, but it’s worth it and you won’t go around wondering why your taxes and health insurance is so high.

Also, get involved, find other parents. Parents are your best source of information, most are sincere and would not steer you wrong. I have met very few parents with ulterior motives. But use your common sense. Some parents are also understandably angry at the system, be it health, education, or the state. Anger really doesn’t get you anywhere. Take a look around and see if there is a place where you can work that understands or will help you. Our state has a parent consultant program at the Department of Health. It’s a 3-year appointment, you get paid, and you can get training. I ended up working in genetics, a program that didn’t even exist until I started there and began asking about conferences and bringing in literature that I received (the Alliance of Genetic Support Groups conference is a good one). As a result, we ended up with an actual Genetics Team that I was part of, I got to travel to D.C. 2-3 times per year for conferences and grant readings and meet great people that I still have email contact with, this includes the people at the National Institutes of Health, Deb Linzer at HRSA, Michele Puryear at the Maternal/Child Health Bureau, and other nationally known genetics people and doctors. My other children even appeared in a video that Family Voices did for Al Gore about siblings of children with special needs.

I’ve had the opportunity to be involved with some phenomenal people. I’ve met and spent time with Dr. Francis Collins, who runs the Human Genome Project, I even conned him out of a copy of the genome draft that was in Nature magazine with his autograph on it. It’s a funny story how I met Dr. Collins. After we had been told that Becca had Dubowitz Syndrome, I was watching 20/20 or 48 hours, some news program. There was a family in Florida that had lost 2 children to a rare genetic disorder and had actually funded/hired a geneticist to find the gene. He had found it and they were talking to Dr. Collins during the interview. I had no idea who he was, but he seemed like a nice man, so I looked him up online and found his email address and wrote to him. He answered me. I’ll never forget Dr. Cox’s face when I brought up this email, he said, “Wow, you wrote to the big guy!!” I had no idea who he was. I corresponded with him over the years, and got to meet him on several occasions. Last year, Becca got to meet him at a speech he gave at Harvard Medical School.

Now I work in our state’s University Affiliated Program. I take care of their website and do brochures and graphics for them, exactly what I went to school for many, many years ago and never could find work in. I also went back to school for computer science/programming and am an A student. I start in the MA program in media studies in the fall. I work closely with our city’s Special Education department and am co-chair of their advisory committee. I also work with the state’s Department of Special Education. All of this is because of Becca. I’ve totally changed my line of work, working within the special needs populations and have become better informed on legal and educational issues and special kids.

To describe Becca to someone that’s never met her is difficult. She has a photographic memory.

A couple of years ago, I took her to lunch and we actually had a conversation about things that happened when she was 6 months old, things she had never been told or heard, that she just remembered. We’ll drive by some street that we’ve not been on before, and she’ll point out someone’s house that maybe she went to one time 5 years ago. Sometimes she’s truly frightening. She’s extremely outgoing and friendly, she doesn’t have a mean bone in her body and I have never seen her in a bad mood. She also has a lot of repetitive behaviors, is mentally retarded, and continues to have health issues. This year, we fought the school system to get her fully included and that seems to be working much better. They can’t ‘fix’ Becca; they need to deal with her as she is. I now work within an agency that believes that all these kids need to belong and be included. It wasn’t until I asked my boss to go to my IEP last summer that the school department began to understand what I wanted for her, and with my boss’s help, it’s now happening. My boss is Dr. Anthony Antosh, who’s pretty much the authority on inclusion in this state. I work for people that totally ‘get it’.

Becca is a phenomenal little person; she continues to amaze me with her kindness and her insight. Maybe someday she’ll learn to read, but it’s not going to be this year. We’ve learned that we don’t really care what she learns (okay, well we do to some extent) but we really want her to be happy. Being in a self-contained classroom with children that had to constantly be restrained and don’t have good social or speech skills was not good for Becca. It dragged her down. We don’t mean to sound like snobs, but Becca cannot be the role model, not all the time anyway. The advances she’s made socially and educationally in the last few months have been very noticeable. The difference within our own city’s school system from school to school is amazing.

I feel that Becca was sent to us for a reason, and that probably sounds very lame, but she has been the one to change and influence everyone that’s ever met her. She is a very special person.

Picture of Sharon TerzianSharon Terzian, who lives in Rhode Island, has acted as a consultant and an active participant in many community/employment activities in the area of genetics, special education, accessible web site design, adaptive technology, advocacy, family support and leadership. Her involvement with the University Affiliated Program (now the University Center on Developmental Disability) includes work in the Dual Impairment Project for children with vision/hearing impairments and in updating and maintaining accessible ADA compatible Web sites. As a parent of a child with Dubowitz syndrome, she is a member of the Consumer Advisory Committee for the New England Regional Genetics Group and is a Genetics Grant Reader for HRSA/MCHB.

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