Tag: Caregivers

Authors: Melissa Raspa, PhD, Don Bailey, PhD (Distinguished Fellow), Carla Bann, PhD (Statistician), and Ellen Bishop (Lead Programmer)

Family adaptation is the process by which parents and other family members adjust, accommodate, or transform their roles and responsibilities to better meet current demands. All families must change and adapt over time, but this is especially true for families who have a child with Fragile X syndrome (FXS). For these families, adaptation begins with the diagnosis and continues throughout their child’s life.[1] [2] [3] [4] [5] Adaptation is a complex process and involves changes on multiple levels. Ultimately, positive adaptation is needed to ensure good outcomes for both children and families.[6] [7]

Several unique characteristics of FXS suggest that it is an especially important condition in which to study family adaptation. FXS is passed on to children through carrier parents, and because children often aren’t diagnosed until 36 months of age, approximately 25 percent of families have more than one affected child.[8] FXS can affect extended family members and the diagnosis may have an impact on family cohesion and dynamics as well.[9] Individuals with the full mutation often have developmental delays, attention problems, hyperactivity, autism, and behavior problems, though there is wide variation in the FXS phenotype. Individuals who are premutation carriers of Fragile X, may experience cognitive or emotional challenges, although less severely. Carriers are also at risk for Fragile X-associated primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor Ataxia Syndrome (FXTAS). Collectively, these challenges may make it harder for families to adapt to the needs of their child (or children) and often have negative effects of parents themselves.IMG_2517

The purpose of this study was to draw on data from a national survey to address gaps in the current knowledge of family adaptation to FXS. First, we wanted to describe the nature of both positive and negative family adaptation to FXS. Using more than 1,000 families who had a child with the full mutation or premutation of FXS, we sought to characterize and quantify multiple areas of adaptation, many of which have not been previously reported, including parenting knowledge of FXS, social support, respondent well-being, family social life, financial impact, family quality of life, and overall family impact. We also wanted to examine how factors that are unique to families who have a child with FXS, such as family composition, (i.e., number and FXS status of affected children), played a role in adaptation. Results are presented below.

Families were asked a series of six questions about their knowledge of FXS as well as how much they knew about helping their child and locating services. The majority of respondents knew a good amount or a great deal about the genetics (86 percent) and heritability (88 percent) of FXS. Seventy-four percent of families responded that they knew about how to help their child develop and learn new skills, but only 60 percent indicated they knew a good amount or a great deal about how to help their child behave the way they would like. Fewer families knew about services that were available for their child and about the rights of families who have a child with FXS; 60 percent said they knew about services whereas 44 percent knew about their rights.

Families responded to four questions about informal social support from friends and knowledge of other families who have a child with FXS. A majority of families usually (27 percent) or almost always (40 percent) had someone to talk to or someone to rely on for help when needed (28 percent, 32 percent, respectively). However, more than one-third of families responded they had lower levels of social support. Just over one-quarter of families (27 percent) did not know another family that had a child with FXS, another 29 percent knew one or two families, 27 percent knew three to 10 families, and 17 percent knew more than 10 families. Of those that did, 41 percent indicated that it took more than one year after their child was diagnosed for them to meet another family with a child with FXS.

Almost all respondents agreed or strongly agreed they were able to handle problems in their life (94 percent). Respondents were asked questions about their levels of stress, history of depression, and ability to handle problems and cope. Almost all respondents agreed or strongly agreed they were able to handle problems in their life (94 percent). However, 41 percent replied they had a hard time coping with all the things they have to do. Most respondents agreed that they were able to find time to relax (67 percent) and do the things they enjoy (75 percent). Nearly three-quarters, however, said that caring for their child with FXS puts a strain on them. Approximately 36 percent of respondents had been diagnosed or treated with depression; of those who had, 57 percent were currently being treated. Forty-one percent of respondents had been treated once, 18 percent twice, and 41 percent more than twice.

IMG_9794We posed five questions to families to ask about their social life. About half of all families indicated that having a child with FXS has somewhat or very much affected their ability to take a vacation (53 percent), go to church or other religious activities (45 percent), eat out at a restaurant (45 percent), go shopping (49 percent), or get together with friends (46 percent). When asked how often their family is able to do the things they enjoy together, 27% responded almost always, with another 30 percent indicating usually, 29 percent sometimes, and 14 percent seldom.

Respondents were asked about the impact of having a child with FXS on different areas of family life. Approximately 27 percent of families responded that having a child with FXS has not caused any financial burdens, however another 26 percent reported a little, 30 percent somewhat, and 17 percent a great deal of financial burden. In thinking about the overall impact of FXS on their family, 18 percent of respondent said it was mostly positive, 35 percent somewhat positive, 33 percent somewhat negative, and 14 percent mostly negative. The majority of families (78 percent) reported that their overall life situation was either good or very good, with 19 percent indicating it was fair, and 3 percent poor.

The majority of families (78 percent) reported that their overall life situation was either good or very good, with 19 percent indicating it was fair, and 3 percent poor.Next, we wanted to determine which factors played a role in family adaptation. Our analyses showed that several child and family factors were important. Families with more education/schooling reported greater parenting knowledge. Male respondents (e.g., fathers or grandfathers) reported less parenting knowledge than female respondents (e.g., mothers or grandmothers). Families that only had children with the premutation and families who had at least one daughter (but not a son) with the full mutation reported less knowledge when compared to families that had a son with the full mutation. Families that had older children or those whose children had fewer co-occurring conditions (e.g., hyperactivity, autism, seizures, etc.) reported better social lives. Having children with more co-occurring conditions was associated with less social support and a more negative overall impact of FXS on the family.

However, some of these things appear to be mediating the nature of adaption for families. For example, families with more parenting knowledge, better social lives, more social support, and less financial impact reported a higher quality of life and better respondent well-being. Not surprisingly, families with worse social lives, less social support, and greater financial impact reported a negative overall impact of FXS on the family. This suggests that although some of the child and family factors mentioned above (e.g., having a child with multiple co-occurring conditions) may place families at-risk for negative adaptation, if families are able to make improvements in some areas, such as increasing their social support or enriching their social lives, they will be more likely to have positive outcomes. This information is important for clinicians and other professionals who work with families so that targeted interventions can be developed to ensure successful adaptation.

My whole marriage to my husband Vince can be described by one acronym: F-X-T-A-S. Our wedding was in April 1999. It was a second marriage for us both, and we weren’t youngsters (I was 48 and Vince was 64), but I thought we were both healthy. We had no inkling that Vince’s mind was already deteriorating from FXTAS.

Vince’s first blatant physical symptom appeared a month after our wedding when he fell down while playing golf, without knowing why. He occasionally fell again in the ensuing months when exerting himself, and gradually started having trouble moving his feet to walk.

The cognitive symptoms had actually started taking hold of Vince’s brain a few years before our marriage, but this only became evident to me in retrospect many years later. I had never known anyone with a cognitive illness, so that possibility never occurred to me when I saw Vince gradually losing interest in his work, having small auto accidents, or having occasional irrational anger outbursts. At least he didn’t forget to show up at our wedding!

We began married life in Vince’s house, which resembled the ramshackle junkyard on TV’s “Sanford & Son.” He had promised to fix it up, but it never happened. His daughter eventually helped me make the house livable.

Vince once screamed at me for trying to throw away an old plastic cereal bowl, and I cried. I did lots of crying in those first years, and often felt terrified at the situation I had gotten into. My gentle, loving husband just wasn’t the same person — he would lapse into episodes of apathy and withdrawal from me. I would try to talk to him and he would stare at the TV and not answer. Still not thinking of dementia, I was afraid that I had been misled about who he really was.

Meanwhile, other strange things were happening. I began noticing that my brilliant PhD laser scientist husband was losing track of his finances — we almost had our water turned off and our homeowners’ insurance canceled because Vince hadn’t paid the bills. He was buying things he had no use for from telemarketers and making crazy investments with con men that caused us huge losses.

I started taking Vince to neurologists in 2001. His brain MRI report had several comments indicating abnormalities, but it would take over two more years of exhaustive tests, incorrect diagnoses, useless attempts at physical therapy, and five neurologists before the FXTAS diagnosis in 2004. We were both greatly relieved to get a diagnosis, and this being a newly discovered condition, we had no idea of the challenges that lay ahead. In a way, I was glad that Vince had something “new,” because it wasn’t an immediate death warrant; maybe I could do my research and be creative about managing the illness.

I like to think that I saved Vince’s life and he saved my soul. I found Drs. Randi and Paul Hagerman on the internet and contacted them. By the time Vince was diagnosed with FXTAS, he was too disabled to travel across the country to take part in their studies at the UC Davis MIND Institute, but I sent them his MRIs and a blood sample for their research. They recommended medications, which Vince’s doctors prescribed. I also became acquainted with MIND’s Louise Gane, the kind and caring genetic counselor — I had called her in a panic when I realized that Vince didn’t even remember my name! She gently confirmed the dementia I hadn’t recognized.

As Vince’s balance and walking continued to worsen, bladder and bowel incontinence joined the fray. But it was his mental decline that was by far the hardest aspect of FXTAS for me to accept. As I saw him get confused about where he was (he often thought our house was a hotel), who I was (he often thought I was his daughter), and lose his ability to write, speak, or have any emotional responses (blank expression), I did not know how I could ever cope. I was rapidly losing my husband’s whole persona, and I was inconsolable.

There was nothing in this world that could replace Vince’s mind — except, that is, for the relationship I began to develop with a God whom I had never believed in. Vince’s church reached out to me; his priest visited and spoke with me and gave me books which drew me into a conversion to the faith. As I felt God hold me up and answer prayers, I began to have some confidence that I could manage this life with God’s help. I also found the Well Spouse Association, a support organization for spousal caregivers that brought me life-saving friendships with people who were entrenched in situations similar to mine.

As turbulent as everything was, I was determined to keep Vince at home and care for him in the best way possible. I kept my resolve to do my research and harness whatever resources I could find. That included a nutritionist for dietary recommendations, handicap modifications to the house, whatever physical and speech therapy Medicare would provide, and home health aides.

It took about a year (2005-06) of trial and lots of error to find a nursing agency that could provide the right help. I finally obtained a strong young man who is still with us most every day. Another aide comes in the evenings. I can handle Vince by myself overnight and for a few hours in the late afternoon.

When Vince’s decline got to the point where I felt everything was lost, my attitude changed to thankfulness for what was still left. For several years, he was able to tell me he loved me, and he often did. Now, I’m just thankful for any random word he may say or any step he takes (he is still able to take some walking steps with help from the aide and me).

Since becoming completely disabled — unable to do anything for himself, including feeding — Vince has been very peaceful and content, and as of today, he is still generally healthy, aside from the FXTAS brain damage. He is not in any pain, and seems to have reached a plateau a few years ago, where things have remained more or less stable. He has days when he looks relatively alert, and days when he sleeps more. He spends the days in front of the TV, sometimes looking at newspapers or magazines, and sometimes playing with put-together toys. He looks great for a very disabled 79-year-old! He also maintains a steel-like strength — probably helped by the testosterone injections I give him twice a month.

Terri with her husband, Vince.

The whole experience of our FXTAS marriage has been extremely difficult for me — physically, mentally, and emotionally. But with God’s help, I learned that I could get through this ordeal one day at a time, establishing priorities and respecting that I was doing enough by doing my best.

As long as I have my aides, we have a workable daily routine, and I’ve been able to get out most days to shop, see friends, and take on many volunteer responsibilities for Well Spouse.

I try to take care of myself with a decent diet, exercise (workouts at home), and time here and there to read or sing with my piano. Life in general is a little calmer for me now than in earlier years when everything was coming at me at once — major house repairs, financial and legal knots to untie, and frequent calls to the rescue squad to pick Vince up when he fell. My greatest challenge now is having to purée Vince’s food because of the chewing and swallowing problems he developed a few years ago. I spend a good part of every day cooking, puréeing, and washing blenders and pots, but Vince has done well eating my culinary “creations.”

There is no part of our almost-15-year marriage that FXTAS has not affected. I know we still love each other, and every day with Vince is one less day without him in my life. He doesn’t speak to me, but I tell him everything that’s on my mind, and he listens. And I can still feel comforted by his strong, quiet presence beside me.

More than anything, I’ve wanted our marriage to have some kind of transcendent meaning, since it never was and never will be normal. I like to think that I saved Vince’s life and he saved my soul: I have preserved the best quality of life he can have, and his FXTAS has challenged me to grow spiritually and in so many other ways. We do have a special marriage.