I just want to know WHY ....

Today at 10:48AM my phone rang.  It was the genetics counselor from Boston Children's Hospital with the last of Elizabeth's test results.  I had spent the last two months holding my breath, waiting for this call.  I stared at the phone for several rings, recognizing the number, unable to move, before I finally answered it.  The last of my daughter's genetic testing had come back with normal results.  I should have been ecstatic.  I should have been jumping up and down.  I should have been relieved.  But instead I felt lost somehow.  I felt like we were back at square one.

So what was square one?  At 27 weeks pregnant I was admitted to our local children's hospital in pre-term labor with excess amniotic fluid and placental abruption.  On the ultrasound they were able to see Elizabeth having a "double-bubble" (an intestinal obstruction) and an Atrial Septal Defect, or ASD (hole in her heart).  I was terrified.  They told us she had Down Syndrome, and we got our first diagnosis.  The results of the amniocentesis would be prove that she did not have it, however, as would the blood they took from her once she was born.

Elizabeth had major corrective surgery on her duodenum at 12 days old, weighing just about 2lbs.  She spent 3 1/2 months in the NICU and came home on oxygen.  She has severe GI issues from the time food enters her body to the time it leaves.  Feeding and oral aversion have been an issue since day one, and we still work with a speech/feeding therapist 3 times a week.  We don't use her G-tube as much as we used to, but she still needs it.  She also receives occupational therapy for sensory issues and is phasing out of receiving physical therapy.  Elizabeth's lungs have long term issues from being born so soon, and she has fairly severe allergies as well.  The hole in her heart has almost completely closed on its own, we got very lucky there.  We currently see a special pediatrician from our local children's hospital as well as a pulmonoligist, cardiologist, geneticist, gastroenterologist, surgeon, developmental pediatrician, and early intervention for her therapy services.

There are times that I feel as though my daughter's entire lifespan has been a search for something to explain this journey - something to explain my pre-term labor, her prematurity, her intestinal obstruction, her GI issues, her eating difficulties.  I feel like I need a reason why. I have to know why. Why were we selected for this journey?  Why us?  We aren't anyone special.  I want to know why we were chosen to have her, why she was meant for us.  I want to know why things went wrong.  I want a diagnosis, I want a name, I want a label.  So often we hate labels and they are a terrible vice, yet that is all I have been grasping for.  I want a diagnosis so I know what the future holds, so I know how to prepare better to help my daughter.  I want to know if this would happen again, should we decide to have a second child.

I have a special needs daughter, but I don't know how to explain what's wrong with her, because I don't know myself.  There is no name for what she has.  We have lots of individual diagnosis, but she doesn't have an all-encompassing diagnosis that would explain everything.  People ask me why she was premature, why she has a feeding tube, why she won't eat like "normal" kids, why she has sensory problems.  There is no quick, easy answer.  They ask when she is going to be better.  I don't know what to say.  Better than what?  Compared to a year or two ago, she's doing phenomenal, she's making leaps and bounds.  I don't know how to explain things about my daughter that no one will ever understand.  And it's difficult to explain something to someone when you're still searching for the answer yourself.

The Down Syndrome diagnosis during pregnancy (while wrong) started us on a road of genetic discovery that I desperately hoped would lead to an answer.  In the process we learned that she has 42 genes on her 4th chromosome that are identical - so for those 42 genes, she got both sets from the same parent.  We don't know which parent.  And unfortunately, no one could tell us what that meant.  Those genes aren't associated with any known conditions or diagnoses that correlate to her birth defects.  Our local children's hospital, while wonderful in many areas, is lacking in experienced genetic specialists.  They tested for 22Q and a few other things.  Everything came back negative.  I was searching, searching, searching for answers. 

Elizabeth's speech therapist suggested Boston Children's Hospital, so I asked her pediatrician if we could go for a second opinion.  In doing so we met wonderful clinicians and doctors - brilliant, caring people who spent more than 3 hours with us, late on a Friday afternoon into the evening.  They explained what they think happened with Elizabeth's GI system during embryo/fetal development, and that they didn't think it was related to her chromosomal anomalies.  They saw her heart as unrelated to both the GI and chromosomal issues.  Still, they saw some things they wanted to test for, so we had blood drawn and sent out.  FragileX came back negative a few weeks ago, and today TBX1 came back negative as well.  Boston offered to send us to a privately funded organization for whole exome sequencing, but only 30% of the people that go get an answer. But at what point do we stop searching for an answer we may never get?

While I am happy that the last test result came back negative, I also feel frustrated and lost.  Part of me wanted one of these tests to be positive, if for no other reason than I need an answer.  I need a condition, a name.  I feel like Boston was our last chance for a concrete cause, or reason, or diagnosis.  At this point I don't think we're ever going to get that.  I don't think I'M going to get that.

And perhaps that's what this is.  Perhaps this search hasn't been so much to find a diagnosis for my daughter, but to find an answer and closure for myself.  As her mother, and my body her first home, I want to know that I didn't cause this somehow.  I want to know that I didn't do something wrong.  I want to know that her health issues aren't my fault.  Sometimes I think that's what a lot of us are searching for - peace of mind that nothing could have been done differently, that it wasn't our fault.  Peace to know that the guilt we hold so dear, so deep is not warranted.

It's strange, because it's not as though an answer would change or fix anything.  She would still have the same medical issues and challenges.  The outcome wouldn't be any different.  We would just know why it happened.  So why is an answer so important to me?   I'm not sure.  Would it make me a better mom?  I don't think so.  It is hard for me to accept that "these things just happen", or that this was part of my life's path, or everything happens for a reason, or that this was meant to be.  I am a very logical, calculating, type-A person.  I want to know why. I need to know why. And the harsh reality is that I will probably never know why. After years of searching, we have pretty much exhausted our options.



And maybe that's why the phone call this morning was so disappointing - because this was our last real hope for the answer so that I so desperately seek.  At this point there are no more specialists, no more tests.  There is only acceptance of the unknown.  We join the ranks of the undiagnosed.  We just have to accept that we defy the odds, that she is the 1% (actually she is 1 in 12,000 for duodenal stenosis caused by an annular pancreas - add in the other birth defects and chromosomal anomalies, and she is 1 in ..... some very big number).  We have to accept that things happen and not every pregnancy goes as planned.  Or rather, I have to accept that.  I know that there is a reason why she was born the way she was.  Maybe someday I'll find it out.  Until then, I just have to look at her beautiful smile, try to have faith in something greater than myself, and believe that things happened just the way they were supposed to .... even if I don't know why.

MOM Note:
At a recent conference MOM was able to speak with a few of the different agencies that offer Whole Exome Sequencing (as well as many other genetic panels). We talked with a rep from Transgenomic that told us that they know that the high costs of these test often take them off of the table as options for many families. Transgenomic will perform most test (with a script from your doctor) for $50 or less. This $50 may include testing parents and immediate family members as well- and they can come to you. According to their website and marketing material, 85% of the US patients are eligible for testing at this price. If you are looking at having genetic tests done for your child, and are worried about the cost, you may want to give them a call.

Searching for a Diagnosis - Hints and Tips

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.