Some children with special needs may receive a diagnosis very early in life. Either in-utero, or at birth. If a child has obvious physical or medical issues such as a heart defect, a cleft palate, or respiratory issues, then a thorough medical “work-up” is generally undertaken. Some of these children may go home from hospital with a diagnosis in place.For others, the road to a diagnosis can be a long and difficult one.
“Not all genetic or developmental difficulties are obvious in-utero or at birth” says geneticist and pediatrician Dr David Coman. You might start to suspect a problem because your baby has difficulties with feeding, won't make eye contact, has difficulties with sleeping, isn’t meeting developmental milestones or perhaps has started to regress.
Some parents may quickly recognise a problem, and immediately start to seek answers. Other parents may take longer before they begin to look for answers. This can be due to a range of factors, including the severity of your child's symptoms, awareness of normal developmental milestones, and available supports. If doctors are dismissing your concerns with words like “she's just a slow developer”, “he's just a fussy baby” or 'boys can take longer than girls”, then it can be easy to brush your concerns under the carpet. After all, most of us have been brought up to believe that those in positions of authority know best. That doctors have the answers. That if there is something wrong, they will recognise it and diagnose it. Unfortunately that is not always true. As the parent of a child with special needs, you will more than likely find yourself having to push for answers, question those in authority, and ask for second, third or fourth opinions.
Familiarise yourself with normal developmental milestones. The internet can be a valuable tool for this. There are many available resources that you can access simply by searching for “developmental milestones”. The “Milestone Moments” booklet is one example of such a resource. This booklet is published by the Center for Disease Control and Prevention, and developed in conjunction with the American Academy of Pediatrics. It contains great detail, including “red flags” for developmental delay, and hints and tips on how to encourage your child's development.
While early difficulties don’t always mean your child will have ongoing problems, according to Dr Coman, “developmental delay is always a red flag that should prompt input from a medical professional. It can be ‘global’ in that it affects all aspects of the child’s development (fine motor, gross motor, social, speech and language skills), or it can be confined to specific developmental fields.”
Also, trust your intuition. If you feel that all is 'not quite right' with your child, then reach out, get the ball rolling, and start looking for answers.
Sometimes it may be difficult to reach out – you might be afraid to have your suspicions confirmed. But denial and avoidance won’t help your child. While none of us dream of having a child with special needs, having a diagnosis for your child can be useful for many reasons. It can help you to know what medical issues may need to be monitored. It may give you some understanding of the long term prognosis for your child, and specific challenges your child is likely to face. It can help you to access appropriate early intervention and supports. And it can allow you to connect with other parents who have children with the same condition, so you can share your highs and lows, exchange hints and tips, and benefit from the knowledge of families on the same journey. Don't be afraid to reach out and search for answers. If your child does indeed have special needs, there is much to be gained by knowing exactly what you are dealing with.
Finding Help
If you suspect that your child may have some genetic or developmental disorder, speak to your GP or pediatrician. Come to the appointment with a written list of your specific concerns. Request a referral to a developmental pediatrician or geneticist.
Your doctor may brush off your concerns and suggest that you return in a few months time, so they can better determine whether a referral is necessary. This may be your first taste of experiencing what it is like to have to advocate for your child. Trust your instincts. Time is precious. Early intervention is invaluable. If you believe that further investigation is required, put your foot down. Insist on a referral, and don't leave until you have one in hand.
Prepare carefully for your specialist appointments. Write a list of your specific concerns, including developmental and physical issues, as well as behavioral problems. Simple dot point lists, separated by headers, are generally easier to read than long paragraphs. It is recommended that you include the following categories:
- Details of pregnancy and birth
- Your child’s developmental milestones and when they were attained
- Any physical anomalies you have noticed
- Behavioral problems
- Feeding Issues
- Sleeping Issues
- Family history
It can also be useful to take health records and pictures of your child at varying ages to the appointment. For older children, information from the preschool or school can be extremely valuable.
Update the information on a regular basis and give a copy to every specialist that you see.
Take notice of the specialist's reaction to the information that you have prepared. Are they interested in reading it? Grateful that you have taken the time to prepare? Or do they seem annoyed by your diligence, and treat you as an over concerned parent? If you believe your doctor isn’t taking your concerns seriously, consider finding another doctor. “You shouldn’t feel afraid to voice your concerns,” Dr Coman says, “and know there are no silly questions.”
Keep records of each of your appointments, who you saw, and the reason for the appointment. The number of appointments you need to attend may grow quite quickly. It can be helpful to keep good records from the start, rather than trying to “piece it all together” later down the track. The “Appointment Log” template, developed by Mommies of Miracles, is a great tool for this purpose.
Sometimes (often!) you may find that doctors have long waiting lists. When time is ticking away, and you are desperate for answers, this can be really disheartening. Some tips that may help you to get in the door more quickly:
- Always speak kindly to the medical receptionists - they are the gateway to the doctor.
- Ask to be placed on the cancellations list. This can sometimes reduce your waiting time by months.
- Once on the cancellations list, ring back every few weeks and politely enquire as to whether there have been any cancellations.
- Ask for email or postal details. Send in your dot point list outlining your child's issues. Include a cover letter stating how concerned you are about your child, the impact that not having a diagnosis is having on your family, and your concern that your child is not receiving appropriate early intervention. In one instance, we were told we could expect to wait between 12 and 18 months to be seen by a specialist Child Development Clinic. After I sent my pleading (yet polite) email, including the long list of Sophie's issues, we were given an appointment within two weeks!
If you aren’t getting answers, don’t give up. It took several general practitioners, two pediatricians, a developmental pediatrician, a speech therapist, occupational therapist, physiotherapist, audiologist, ophthalmologist, pediatric dentist, two hospital admissions, a visit to the ER, countless hours of internet research and three geneticists for us to finally obtain Sophie's Kabuki diagnosis when she was 20 months old. It took another year before we obtained her Asperger's diagnosis. During the course of that time I was accused of many things, including being a neurotic first time mother, being over-concerned due to having post natal depression, and, believe it or not, “delusional” because I thought that my child had a genetic disorder. I started to question myself. If all these doctors thought Sophie was fine, perhaps I really WAS crazy! But I knew in my mother's heart that something was wrong. So we kept looking until we found doctors who were prepared to listen and take us seriously. For us, persistence was key.
Research on the internet, talk to other parents, keep looking for answers. By the time we received Sophie's diagnosis I was an expert at “Dr Googling”. Some doctors were frustrated by my insistence on trying to find answers on the internet. But researching can help you to become familiar with medical terminology, to rule out some syndromes, and to find ways in which you can help your child's development without having a diagnosis. We found doctors who were happy to listen to the information we had discovered. And ultimately, those were the doctors who put us on the road to a diagnosis.
If you do receive a diagnosis, you may find yourself experiencing mixed emotions. Even though I had fought so hard to find answers, I shed some tears when we received Sophie’s official diagnosis. It was undeniable now. This was not something that was ever going to go away. The diagnosis was a mixed blessing. It destroyed that final bit of hope that perhaps I was overreacting and everything would be okay, but there was definite relief. I could finally stop searching for answers. And receiving a diagnosis restored my faith in my “mother’s instincts”.
Remember - a diagnosis doesn't change who your child is. He or she is still the same child, with the same likes, dislikes, strengths, weaknesses and cute quirks they have always had. The things you love about your child remain, regardless of what their diagnosis may be. A diagnosis does not change your child – it gives you the ability to educate yourself about your child’s condition, and to take appropriate steps to help them reach their full potential.
Before finishing up this post, I'd like to reach out to those parents who may have been searching and searching, and still haven’t been able to obtain a diagnosis for their child. Unfortunately, some children will remain “medical mysteries', despite all your best efforts at finding answers, and even with the best doctors on board. While I can't imagine how difficult this must be, never forget that there is plenty that can be done to help your child even without a diagnosis. Prior to Sophie's diagnosis, we simply had to work on a “treat the symptoms” basis. Physiotherapy, occupational therapy, speech therapy, horse riding therapy, behavioral therapy. All of these things and more can be done without a diagnosis. There are also support groups for parents who have a child without a diagnosis, including Syndromes Without a Name (SWAN) USA, and the Facebook forum “Syndromes Without A Name (SWAN) International”. You are not alone! The fact that you are looking for answers shows you want the best for your child. With your love and support, your child will reach their highest potential, with or without a diagnosis.
If you would like to read more about our journey to a diagnosis, I would be honored for you to follow our journey on my personal blog about Sophie.
Blessings to all.
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