I’m joining the crowd.

FXSmom over at Fragile What!? had a great idea to share memories of her life with Fragile X so I’ve decided to join in as well. I’m going to cheat for my first post though. I wrote this in 2006 about two weeks into our journey. Reading it makes me angry all over again. This really set the stage for our first year as parents of a special needs child and perhaps makes clear why I noted on Monday that our first 6-12 months were really rough ones.

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Under the best of circumstances hearing that your child has Fragile X is going to suck. It rips your heart right out of your body, without a doubt. Even in the weeks we were waiting for the test results we knew this. Anytime I would try on the diagnosis I would feel like I’d been punched in the stomach. Tears were inevitable. But how we learned that Monkey had Fragile X? Well, that was inexcusable.

Monkey had a “well baby” visit with his pediatrician, Dr. R, at 21 months. We’d been concerned for some time about his lack of speech, this was a follow up visit so that she could gauge his progress after many months of Early Intervention. Dr. R observed Monkey and ran through an autism screening with him and finally suggested a test to determine if he had a genetic condition called Fragile X. Not surprisingly neither my huband nor myself had ever heard of this before. I did a bit of internet research and panicked. I called my OB’s office, I had reported mental retardation in my family during my prenatal visits surely I had been tested. No, it turns out, I had not. I was only tested for cystic fibrosis. So we waited for the results.

For 3 weeks we waited and finally we received the call we’d been hoping for. The test results were in, they were normal. I think people 5 floors up heard me say “YES! I KNEW it! Thank god!” I ran out after work to find the perfect gift to celebrate our good fortune. Perhaps, in hindsight, I should have realized we had received an omen…I reached the check out area only to find that my wallet was not there. I had left it at home. I had to return our celebratory gift to the shelf.

The next day my son had another follow up visit with his pediatrician’s office. He had had a dry hacking cough for some time. He had had chest x-rays and a round of antibiotics the week before and they wanted to listen to his chest to make sure it was still clear. Dr. R was on vacation so we had a fill-in, let’s call her Dr. B (for bitch, if you must know.) Dr. B listened to my son’s chest and said it sounded clear. She advised my husband to continue using a humidifier in his room for at least another week to give him a chance to fully recover. She looked at the rash Monkey had developed as a reaction to the first antibiotics that had been prescribed and said it would take up to another week for it to clear up entirely. Finally she added, “Since you are here, I might as well give you his test results. He tested positve for Fragile X. Dr. R may want to meet with you next week.”

Shock, horror, disbelief. My husband left the Dr’s office and called me at work. I cursed, I cried and then I tried to pull myself together for my commute home. The sheer terror cannot really be described. I knew only what I’d been able to research on-line and honestly, I didn’t dig too far. I was horrified by the thought that my son could be so afflicted. I could not deal with the what ifs so I stopped looking.

I can’t tell you how exactly I got home, thank goodness for autopilot. I ran into a friend on the bus ride and he could tell there was something terribly wrong but all I could do was look at him with shell-shocked eyes. I could not get any words out. Once home I hugged my son and husband and cried. So many tears. I cried all night as I lay in bed with my laptop and read all those things I couldn’t bear to read in the weeks before. By morning I was in a state of panic, I told my husband we needed to know the numbers the numbers were key. How many repeats? Can they tell the level of methylation? We NEED TO KNOW! We NEED a referral to a geneticist. The first hints of anger were beginning to show through my shock.

I left for work, I had it in my head that I needed to be there, that sitting at home would be worse than forcing myself to keep moving. So I moved frantically. I was so focused I probably ran down a dozen fellow pedestrians in my rush to get to my office, to continue my normal everyday life as if I still had a normal everyday life. That morning I was in touch with my husband constantly. Had he talked to Dr. B? Had she faxed the results yet? He told me she was unavailable but she’d try to call at lunchtime or at 4 depending on her schedule. I FLIPPED out. How DARE this woman throw our family into crisis and not provide ANY information? Any support? How DARE she duck our calls? I called the office myself. The receptionist started to give me the same line that she’d fed to my husband and I lost it. I began sobbing into the phone, the panic I had been trying so hard to surpress had overtaken me. She asked if I was at home, if they could call me back. No, I’m at work. Silence…and then she told me she would get the Dr. immediately if I could hold on for just one minute.

Dr. B came on the line and was clearly annoyed. I could feel it traveling across the lines and my anger returned to overpower the panic. I DEMANDED something. I told her how terrified we were, how unfair it was to leave us with no explanation for the all clear call on Monday, how unfair it was to not have us in contact with someone who could answer our questions. She tried to brush me aside but I kept coming back until I got a response on the all clear. Two tests had been ordered, one was fine, the second was not. It was a “miscommunication.” Disbelief now joined anger. Were these people completely incompetent? As I pushed for her to share my son’s numbers she refused to answer. The numbers would not tell us anything, she insisted. Only a developmental evaluation would help. Fine, so who do we see about that? She gave me three names. Call them. She had no geneticist she could refer me to. Thank you and goodbye.

I called the numbers. I left a message for one that remains unreturned a week later. A 2nd offered help but it was clear that they had no experience with the type of evaluation we required. I settled for making a speech assessment date in April and a physical assessment date in July. I called the 3rd, the wait is 4 to 6 months. I have forms for this to fill out but I’m not satisfied. We’re being told we’re at a critical juncture that Monkey should receive as many services as possible as soon as possible…how can 6 months be right? I continue to do research. I want a developmental pediatrician (ours is SO fired), I want a geneticist, I want a center who does complete developmental evaluations. I find NOTHING. None of the pediatricians are accepting new patients, none of the geneticists answer their phones or return my calls, none of the centers can see us any sooner than 6 months. I feel the panic rising again and the anger. She has done NOTHING to help still. The week ended, the weekend passed…we were still in limbo.

Finally, completely discouraged, I went back to the internet, back to a website I had found weeks before. I read the same information over again and noticed that it said they could help me find a develomental pediatrician. I sent the e-mail hoping for a reply in a day or two. Twenty minutes later my phone rang. It was Robbie, the Executive Director of The National Fragile X Foundation. I was so surprised that at first I didn’t understand who he was. As soon as he mentioned my e-mail it clicked. Oh my god! Someone had responded! I felt the emotions welling up again and was on the verge of tears. I was speechless when he asked “How can we help?” I managed “I don’t know!” and fell silent. Robbie guided the conversation in order to get the information he needed to help me. We talked about my family history, my health, my father’s health and, of course, my son. He had a name for me of someone who had recently joined the Board of Directors, he was here in MA. He was a doctor! His wife was a pediatrician! They might be able to help. I agreed to allow him to pass my contact information on, he assured me that we would find the help we need. He made me promise to call back if I needed anything else. It was the first glimpse of hope I’d seen in a week.

How much less stressful could our first week as parents of a child with special needs have been if we’d been treated with the kind of respect and given the kind of knowledge that we gained in two days of contact with the National Fragile X Foundation? The roller coaster of emotions was inevitable but the lowest of the lows, the feeling that we did not matter were so unnecessary. I’d like to say we’re going to use this as a teaching moment for our pediatrician and her practice but we’re not. We’re cutting them loose and moving on. It takes a much bigger person than I am to let go of the anger they created with their casual and disrespectful treatment. I need my energy for this journey we’re on, I can’t waste it on people who didn’t even show a basic level of respect to a family in crisis.

8 thoughts on “I’m joining the crowd.

  • April 10, 2008 at 8:00 pm
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    thank you for your honesty. i know i am blessed to have known so much going into punkin’s birth and for having so many wonderful doctors the first time. no one should have to go through what you did.

    Reply
  • April 11, 2008 at 10:57 am
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    I very nearly didn’t share because it is so overwhelmingly negative but I was in a really bad place at that time. I just figured there might be others out there who were blindsided the way we were and I just wanted to be truthful about how that felt.

    Reply
  • April 12, 2008 at 10:56 am
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    It is an unfortunate reality that this story is one which I am sure can be repeated several times over by other FRAX parents. My own experience was almost identical in our local Health Centre in Scotland around 5 yrs ago!
    We knew there was a problem with our 3yr old son’s speech, went through various tests & assessments before being summonned to hear blood test results from a locum paediatrician. “Your son has Fragils X Syndrome. Geneticists will be in touch with you some time in the future, they can tell you more.Have a nice day.” I went home – none the wiser!! Searched the internet for this unheard of blood disorder!! That is how I learned what in fact my son had. I smashed holy ornaments, cried, cried, screamed, cried. These “professionals” have no consideration for the impact they can have with this type of news – because they’ve probably never been there.
    We are 5 years on & coping not too badly. Our son is getting a lot of help from our local authority & that helps lessen the everyday heartache.
    I search the web often & cry every time reading other people’s experiences. We can help each other just by knowing that we each exist out there on the web!! The internet in fact has proved to be one of our few reliable friends in all of this. It tells us what the professionals don’t want to/ can’t & it gives us access to info, friends, help groups etc. Even my son enjoys searching the internet for pictures of bouncy castles!!!
    take care & stay strong. a Scottish Frax mum.

    Reply
    • April 24, 2017 at 2:55 pm
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      16 juin 2010Super article , je vais tester une petite remarque : il y a une fermeture de parenthese en trop dans cache_get(‘my_module_data’))cf :if ($cache = cache_get(‘my_module_data’)) && !empty($cache->data)) {

      Reply
  • April 14, 2008 at 7:31 pm
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    Siobhan, thank you so much for commenting. I’m so sorry that you had such a similar experience to ours. It is so wrong and unfair.

    I’m hoping that if we all band together that the next time someone is thrown to the internet for answers that maybe they find one of us and at least have someone to reach out to that lives this life.

    Reply
  • April 14, 2008 at 10:54 pm
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    I do not have a website so I am not sure I can reply, but our story is the same. Our pediatrician kept telling us to wait six months, our youngest son would be fine. When we finally received a diagnosis, I referred my self on to a geneticist, because there was not a doctor to do it. It is tough.

    Reply
  • January 23, 2011 at 4:46 pm
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    I had not read your diagnosis story before today. I am in tears remembering our own diagnosis. Amazing how similarly we reacted. Thank God for the NFXF.
    Bonnie´s last blog post ..Sippy Cups Revisited

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