Our NF1 maybe... journey
“I don’t hear Luke babbling much, do you?” I asked my husband when my youngest son was about 7 months old. This was the first sign to us that Luke might have some learning difficulties in his life.
Over the following years we underwent many sessions of physiotherapy, speech pathology and occupational therapy – all without a diagnosis and this did not seem to matter to the treating health professionals.
In the meantime, a close friend who is a nurse, babysat Luke for me for a day. A few days later she carefully approached me to tell me a suspicion she had.While changing Luke’s nappy she had seen a large flat, light brown birthmark in his groin area. This, coupled with the various physical struggles Luke had been having so far in his life, made her suspect that he had NF1.
“What is that?” I asked innocently, having never heard of it in my life. She explained the basics and then I did a lot of internet searching myself as well. I was totally overwhelmed by the thought that my little boy might grow huge tumours over his body and for about 2 weeks just cried and panicked. I raced to the GP hoping for some help. He looked at the birthmark and said, “Oh, that’s not anything to do with NF1. You have to wait until they are older anyway before you know whether it is or not.”
Over the following years, as much as possible, I tried to just live normally. I took Luke to several GPs, but all of them were dismissive of my concerns. One didn’t even look properly at Luke’s birth marks and wrote a referral but at the bottom of it said, “Mother thinks that the spots are NF1, I am not convinced.” Luke was now at the age when the birth marks should give a clear diagnosis. But he only had 4, not the required 6 and so far, no other confirmed clinical symptoms.
By this point i gave up trying to get a diagnosis.
I kept up with Luke’s speech therapy as that was the biggest area that we needed outside help in. I was convinced he had NF1 but there seemed nothing to be done about it.
However, it did confirm it in my mind and I no longer talked about, “If Luke has NF1,” I spoke of, “because Luke has NF1.”
I recently found the CTF website and saw that they were going to run a camp for families that have NF1 in them.
I was so excited and hopeful of finally getting some support. I rang the number and spoke to Meredith. I burst into tears almost immediately with the relief that it brought to speak to someone sympathetic."
My question to her was, “Can we still come to camp even though my son does not have a clinical diagnosis?”
Again, that haunting spectre of no diagnosis reared its head, would it stop Luke and myself from getting the help we need? Finally, this beautiful voice on the other end of the phone said, “Of course you can come,” and then the encouragement to talk all about my experiences.
I came away from that phone call, encouraged and empowered. Meredith had told me that to get a diagnosis I needed to see a geneticist and to have another appointment with our Ophthalmologist.
Our third visit to the Ophthalmologist finally showed clear Lisch nodules in both eyes but she still said that didn’t mean he has NF1.
We are now waiting for a geneticist appointment.
After all this time, having a diagnosis will mean certainty. Certainty with NF1 though is not really possible, it is such an unknown condition, but what it does mean is that I am not just making this up."
When I talk to Luke, he will know that the condition is real, not maybe, and that he can prepare himself for what life might bring to him.
We will be recognised in the medical community and be able to access help because it is not just, “what the mother thinks.” I’m not sorry that I have spent these last 7 years seeking help. Had I done nothing; Luke would not be where he is today. There is truth in the fact that even without a diagnosis, Luke needed help in individual areas of his life with speech, Physio, OT and especially maths learning. Even the little help I was able to access has all contributed to his progressing and learning in a positive way.
Acknowledging, however reluctantly at times, the possibility that Luke has NF1 has helped me to help him where he needs it. Even if we don’t get the diagnosis, I have embraced the almost certainty that Luke has NF1 and I feel empowered to move forward in helping him in the areas he needs it. I also recognise that the individual help that we have accessed and done with Luke along the way were the best things we could have done for him anyway – diagnosis or not. Waiting for a diagnosis would not have helped Luke to grow. Helping him every day to learn the way he needs to is what has moved him forward