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The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation of the disorder is variable [Zurynski et al., 2008; Fehr et al., 2010]. Under- or misdiagnosis commonly occurs and there can be long time lags between the family's first concerns and the formal diagnosis [Fehr et al., 2011]. When a diagnosis is received, families have a clearer understanding of their child's condition and can then participate in a greater level of planning for current and future needs. In the accompanying paper, the diagnostic journeys of families in China who have a daughter with Rett syndrome were found to be complex and challenging [Lim et al., in press]. Such scenarios can occur elsewhere in the world. This paper illustrates the experiences of one of us (MK) in the search for a diagnosis for her daughter in Australia.

“Nearly 10 years ago, my life took an extraordinary turn when I became a mother for the first time at the age of 31 years. I was, and I guess I still am, the type of person who needs everything to be perfect and running according to plan. I had all the tests expectant mums usually have and I admit that I used to be the person saying that if I were ever to have a child with some sort of birth defect that I didn't think I'd be able to cope. At the time, my own father was deteriorating and succumbing to the symptoms of a rare neurological disorder called Progressive Supra Nuclear Palsy (PSP or Steele Richardson syndrome), which eventually claimed his life within 4 years of diagnosis.

My daughter was almost 2 years of age when my father passed away, and at that time I knew there was something not quite right with her development, so my search for answers began. My daughter had been diagnosed with having Global Developmental Delay. After having seen what my mother had endured nursing my father through illness, the thought of raising a child with a disability or illness was, quite literally, gut wrenching. However, my father always taught me that “knowledge is power”' and as I had no idea with what I was dealing at the time, how, without knowing what was happening to her, could I offer my child what she needed? Global Developmental Delay was simply not an answer I could accept and I figured that if I was never going to find out what was wrong, it wouldn't be for lack of trying.

My daughter was eventually diagnosed with the neurological disorder Rett syndrome a month after her 3rd birthday. For over a year prior to diagnosis, she had been tested for a range of genetic and metabolic disorders that I just knew she didn't have. Unfortunately, at the time, specialists we consulted were not up to date with the variances of clinical symptoms in girls suffering with Rett syndrome and they were persistent in looking to other disorders for answers. I would like to tell you our story.

My daughter had initially been a very placid baby and she seemed to progress well in that she began speaking and clapping hands on demand from when she was just 3 months old, however, by the time she was 6 months we had noticed she was physically delayed. She didn't sit up competently on her own until she was 12 months. She never crawled conventionally, instead she bottom shuffled to move around. She didn't bear weight until she was 13 months and then there was the constant hand mouthing that has been present throughout her life.

We'd had several appointments with pediatricians and health nurses who kept assuring us how it's most common for larger babies to be physically delayed. Then, one day she wouldn't talk or repeat words as she had done every other day. At first I thought she was being stubborn but when weeks passed I became more concerned. Then, months later the aggression began which included head banging, biting, pinching, pulling and screaming for no reason other than what appeared to be frustration. The hand mouthing became so bad she'd often bite through the skin on her hands and wrists. To those with knowledge of Rett syndrome, all this may sound familiar as being common behavior of a child going through the first to second stage. However, at the time no one could tell us what was happening.

A few weeks later, the pediatrician called me to say the results of an EEG indicated that my daughter was experiencing myoclonic seizures and that she needed anticonvulsants immediately. Unfortunately, after commencing the medication her aggression worsened. In fact the symptoms progressed to the stage where her carers at the time could not cope so I was forced to temporarily stop working to care for her full time. At that point I became even more determined to find out what was wrong with my little girl.

I began reading about Rett syndrome on many websites including the Australian Rett Syndrome Study. At 2 years of age, my daughter wasn't what you would call the “classic case” with the symptoms she was experiencing. She was and still is unusually tall and solid for her age. Although her verbal and fine motor skills were deteriorating, her gross motor skills were improving, albeit at a slow rate. My suspicions grew further when she began to drop things and she could think of nothing else but making a fist and punching her chin day and night, so much so, that we had to splint her arms just so she could focus on menial activities, including falling asleep.

At a subsequent appointment with my daughter's neurologist I told him I'd been reading about Rett syndrome and how girls with the condition were often misdiagnosed with epilepsy, cerebral palsy, or autism and how my daughter certainly fit the profile. He then replied with, I quote, “no she doesn't have Rett syndrome, her head would be shrinking,” he also said as the prognosis for some of the conditions we were discussing was not good, sometimes it's often better for the child if we don't know and I was “torturing” myself by browsing the internet, but if I was that concerned I should wait to speak to the geneticist.

Whilst at a geneticist's appointment, I asked about Rett syndrome and he said he didn't believe she fit the criteria. He said her head circumference and the fact she had always been physically delayed didn't support a Rett syndrome diagnosis. He said, “Rett's girls didn't only regress verbally but also physically.” He then said it would cost around AUD $500.00 for a test should I be the one to request it. When I next saw the geneticist, he told me he wanted to perform more tests for some rare metabolic disorders that can cause aggressive behavior. I again asked him about Rett syndrome and he again dismissed it by telling me he didn't think it would be worth my money for the MECP2 test. He also asked,

How exactly is a diagnosis going to help you deal with your child? It's not going to change anything for her and you should just focus on obtaining assistance in helping you cope with her behavior and disabilities instead.

Finally after over 12 months of literally begging our pediatrician, neurologist, and a genetic consultant to request a MECP2 gene test to support my theory, the pediatrician finally agreed. Five agonizing months later, results confirmed what we had been dreading but suspecting for such a long time.

I understood that years ago before the responsible gene was found, many girls were diagnosed much older when the hand wringing began or the decline in head circumference or lack of physical growth was prominent. At the time, my daughter's tall stature and head circumference tracking just under the 50 centile and the absence of hand wringing, were some of the reasons why specialists initially couldn't or wouldn't consider eliminating the possibility of Rett syndrome [Fehr et al., 2010]. However, it just didn't make sense to me that they were requesting tests for so many other genetic and metabolic disorders that are just as expensive but were confident she didn't have. Surely, considering the behavioral differences among affected girls this procedure and government funding for genetic testing needs to be reviewed. My daughter had been subjected to many thousand dollars worth of EEG's, MRI's, X-rays, ultrasounds, blood and urine tests which seems such a waste of valuable government funding, not to mention my family's out of pocket expenses. The lack of knowledge and understanding of Rett syndrome was of great concern and frustration [Fehr et al., 2011].

At the time I received the diagnosis, I thought of nothing other than how damaged our lives were. I felt an unexplainable sadness, anger, and vindication but strangely, also a huge sense of relief, at finally knowing what it was that made our beautiful daughter different. I'm honestly not sure if all of those emotions have really left me even to this day; however, once we picked ourselves up and brushed ourselves off we began to make some real decisions.

  • Not long after diagnosis, I had a test to confirm that I was not a silent carrier of the mutation and when given the all clear, my husband and I decided to have another child. We had read that the chances of having a second child with Rett syndrome was miniscule, however, the concern was always present.

  • We began interacting with other parents whose lives had also been affected with Rett syndrome which reduced the isolation we felt.

  • We enrolled our daughter into a special school of 120 students, of which 15 girls also suffered with Rett syndrome. Their curriculum and experience with this disorder has been invaluable in providing the best possible care and therapy my daughter has needed since her school years commenced.

  • We began the process of applying for funding for respite and aids and equipment that we have needed as she grows.

  • We finally have a “diagnosis” to write on forms and to tell inquisitive people.

Participating in the Australian Rett Syndrome Study has enabled us to keep up to date with the variations in all aspects of the disorder such as scoliosis, seizures, respiratory and bowel issues, saliva control, bone density, muscle deterioration and rigidity, and of course each girl's physical capabilities. It gives us insight into our future.

Although every setback to my daughter's health and well being is devastating, it is no longer a surprise now that we have a diagnosis. It's certainly no consolation to the fright and sickening worry I feel when my daughter is having a seizure, but I have a sense of calmness and acceptance of these challenging consequences.

I have an overwhelming desire to spread the word about Rett syndrome. There must be many in the same situation we found ourselves. The more in the medical community who are aware of developmental disorders such as Rett syndrome, the sooner families can come to term with what lies ahead and a trip to the hospital will not feel like such a medical lesson for hospital staff, frustratingly enough, many of whom still confuse Rett syndrome with Tourette syndrome.

I am 40 years old now and I've come a long way since the days leading up to my daughter's diagnosis. I am a divorced mum of two beautiful girls. I have a partner with an adorable 6-year-old daughter of his own and would you believe that she too has a half sister with Rett syndrome. Even though the five of us have our highs and lows, I can't imagine how life would be without our three girls, just the way they are.

I now find it amusing when others say that they couldn't do what I do. The feeding, bathing, toileting, sleepless nights, lifting, and the patience one requires every day of the week is nothing other than just a part of life. My younger daughter is almost 5 now, and as gorgeous as she is, sometimes I truly wonder which child is more work!

I used to think of what my daughter would be like if she didn't have Rett syndrome. I soon realized how ridiculous that was. Rett syndrome is part of my daughter's genetic makeup. It certainly doesn't define who she is but it certainly is a part of her life and the lives of all of us who love her. If she didn't have Rett syndrome, she would simply be someone else. She has helped me to realize what is truly important and as a result, I have become wiser and stronger. She is a feisty young lady with the most contagious smile I've ever seen, which touches the heart of all who meet her. I am so very proud of both my girls.

My beautiful daughter's name is Isabella, and she has Rett syndrome.”

To close, we have identified some of the key messages that have been illustrated in this story.

  • As with many rare disorders, families in different countries often experience frustration during the process of reaching a diagnosis of Rett syndrome [Fehr et al., 2011; Lim et al., in press].

  • Clinicians need to be aware of the range of clinical presentations in Rett syndrome and use this knowledge when considering a diagnosis [Fehr et al., 2010].

  • Families and clinicians are working partners during the process of reaching a diagnosis and beyond.

  • Family perspectives need to inform the improvement of clinical pathways to facilitate diagnoses in rare disorders.

  • Achieving a diagnosis for a rare disorder can provide many benefits for the family both in the short- and long-term.

REFERENCES

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  2. REFERENCES
  • Fehr S, Downs J, Bebbington A, Leonard H. 2010. Atypical presentations and specific genotypes are associated with a delay in diagnosis in diagnosis in females with Rett syndrome. Am J Med Genet Part A 152A: 25352542.
  • Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, De Klerk N, Leonard H. 2011. Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res 70: 313319.
  • Lim F, Downs J, Li J, Bao X-H, Leonard H. In press. Barriers to diagnosis of a rare neurological disorder in China—Lived experiences of Rett syndrome families. Am J Med Genet Part A 9999: 18.
  • Zurynski Y, Frith K, Leonard H, Elliott E. 2008. Rare childhood diseases: How should we respond? Arch Dis Child 93: 10711107.