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Family Story: Laurie, 38

Tuberous sclerosis complex (TSC) has significantly impacted Laurie's life and health. As an adult she's had to deal with progressive kidney problems and is now experiencing the early stages of lung involvement. Laurie also has cognitive limitations, but with the support of her parents, she has been able to maintain a fulfilling job and move into an apartment of her own. Watch Laurie's video [duration 10:50] or read the transcript.

Laurie quote by Laurie

Laurie's Diagnosis

Laurie began having seizures when she was a year old. The family pediatrician referred Laurie's parents to neurologists. Tests were performed, but doctors were unable to determine the cause of Laurie's seizures. She was reevaluated in 1974, at seven years old, and this time was diagnosed with TSC. Her parents received the diagnosis with mixed feelings. They were relieved to finally learn what was causing their daughter's seizures, but because information about TSC was limited, they didn't know what to expect in terms of life span or severity of symptoms.

Learning Issues

Laurie at oneclick to enlarge photograph

Laurie at one year old

 

Laurie and Lee Bowieclick to enlarge photograph

Laurie speaks with Lee Bowie, dean of Mount Holyoke College.

Over time, Laurie's parents learned that cognitive disabilities are common with TSC and that the tubers in Laurie's brain might be impacting her ability to learn. Laurie has aphasia, which means that she has trouble comprehending and expressing written and spoken language. When she was four years old, her vocabulary consisted of about 12 words, and it wasn't until she was eight or nine that she was able to speak in short sentences. She attended special needs schools, including a language institute, where she was able to improve her speech and written language skills. Laurie's parents also worked closely with her at home, helping her to develop basic life skills.

Laurie eventually graduated from the special needs program at a vocational/technical high school, where she took secretarial courses. Laurie's mom, Anna May, says, "We were persistent. Abstract things meant nothing to Laurie. She could relate only to concrete things. But we always worked with Laurie; we always made her reach a little bit beyond what her ability was. She has gone from this child to whom language meant nothing to somebody who's the productive individual she is today."

After high school, Laurie got an administrative job working with her mother at Mount Holyoke College, and they have worked together ever since. The work environment has provided Laurie with more opportunities to grow. She has been able to expand her vocabulary and improve her understanding of language, as well as develop her social skills.

Kidney Involvement

Laurie quote by Laurie's dad

Most of Laurie's organ systems have been affected by TSC, some more seriously than others. She has growths in her eyes, thyroid, and liver that cause her no problems at all. She does, however, have very serious kidney involvement. When Laurie was 28 years old, angiomyolipomas (AMLs) in her right kidney started to bleed, causing severe pain. The bleeding stopped, but a few months later the symptoms recurred. This time an embolization procedure stopped the bleeding, but not before the kidney was damaged enough to require removing part of it. In time, Laurie's left kidney developed complications and had to be removed entirely. She has multiple tumors in her remaining kidney, but to date the kidney is functioning well.

A nephrologist sees Laurie regularly to monitor her renal function. Laurie also follows a basic health plan to keep her remaining kidney as healthy as possible. This involves getting regular exercise, drinking plenty of water, and taking medications to help control her blood pressure. Laurie and her family also work with a renal dietician to regulate the amounts of protein and potassium in her diet in order to maintain and prolong her kidney function. Still, Laurie and her parents understand that she may face dialysis or kidney transplantation in the future. (For more information, see Kidney.)

Lung Involvement

Jayaraj Rajagopal listens to Laurie's lungsclick to enlarge photograph

Pulmonologist Jayaraj Rajagopal listens to Laurie's lungs.

A chest CT scan when Laurie was in her mid-30s revealed that she also has lymphangioleiomyomatosis (LAM), a relatively rare lung disease that affects a small number of people with TSC, most typically women in their 30s and 40s. LAM involves the proliferation of smooth muscle-like cells in the lung that can lead to cysts. LAM can be progressive and may lead to breathing difficulties. Laurie has had LAM now for a number of years, but so far all of her breathing tests have been within normal range—lower than in a person without LAM, but not low enough to cause her problems. LAM is, however, a potentially serious concern and can progress to lung failure, so Laurie's lungs are closely monitored by her pulmonologist. Exercise is also recommended for Laurie to maintain and increase her lung performance. (For more information, see Lung.)

In 2006 Laurie was enrolled in the Rapamycin safety and efficacy drug trial, and so far she is doing well, having experienced no adverse side effects from the drug. It's too early to tell what effect Rapamycin will have on her LAM and kidney tumors, but Laurie and her family remain hopeful that the results will be positive. (For more information, see Research.)

Family Life

Laurie and her momclick to enlarge photograph

Laurie and her mom work together on meal planning.

Because of her serious medical issues and cognitive limitations, Laurie has lived at home with her parents for most of her adult life. For some time she has wanted an apartment of her own, and finally a couple of years ago her parents agreed. They worked hard to prepare Laurie to live alone, and found an apartment in a retirement complex that had recently expanded to include housing for the handicapped. Anna May and Denis helped Laurie develop necessary skills such as food preparation and how to schedule time for activities like exercise and house cleaning. Laurie's dad, Denis, says, "Laurie living on her own has definitely exceeded our expectations. In essence, she has traded one mother for fifty. They just love Laurie, and keep a very, very close eye on her. So, it's a very safe environment for her."

Strategies

The way Laurie learns and thinks about the world provides a special challenge for her parents. They have come up with a series of lists to help Laurie remember things. Laurie has lists to help her with clothing decisions when she gets dressed each day, lists for her daily protein intake, and lists of the typical things she buys at the grocery store or pharmacy. When she's running low on something she can mark that item on her list so she'll remember to purchase it. (For examples of Laurie's lists, see Grocery List and Menu.) Laurie says, "I do my own cooking. I clean my apartment on Saturdays. We've actually worked out a schedule, and at first I was doing it during the week, but then it didn't give me time to exercise; it didn't give me time to plan my meals. So we had to rearrange my schedule so that I now do my housework on Saturdays, and that gives me time during the week to exercise and to plan my meals and to take care of myself."

bowlingclick to enlarge photograph

Laurie joined a women's bowling league.

Laurie's parents are her legal guardians and are still responsible for many things, including much of her transportation, her financial management, and arranging for her medical care. Anna May makes all of Laurie's medical appointments, and the family brings along a large suitcase full of Laurie's medical records to each visit. Laurie will always need help with much of her daily life. To ensure that she will always have this assistance, her parents will eventually name replacement legal guardians.

With the continued support and advocacy of her parents, Laurie is doing well living on her own, and her life is very full. She loves her job and her apartment. She still spends time with her family, but she also has many friends in her apartment complex who drop by to visit and to watch an occasional Red Sox game. She's also on a bowling team and has recently joined a golf league for the summer.