One Mother’s fight, one puzzling disease (Neurofibromatosis)

This guest post is a friend of mine who has made it her mission to spread awareness of and help find a cure for Neurofibromatosis!

Mommy J’s Story…

Photo: NF BANNER

I had never heard of NEURO-FIBRO-MA-TOSIS (NF) before, I never knew anyone who had it, and I truly did not understand it.

 

So why would I pay attention?

 

When my Son was born he had been sent to the NICU for breathing problems. After 2 weeks of stress and worry they figured out that he had ‘Silent Reflux’, which basically meant he was spitting up, but instead of coming out, it went back down his airway. After prescribing us some medicine he was doing better and everything was great. I honestly thought that the worst was behind us.

 

At about 2 months old, I started noticing ‘spots’ on his skin. I asked our Family Doctor about them, but he shrugged them off as birthmarks. My instinct was telling me that they weren’t just birthmarks, but something else was wrong. Every appointment, I would ask again and again about the strange marks because more of them were appearing over time. But each time I asked, I was assured that it was nothing.

 

At 1 year when most kids start toddling around, my son was showing no signs of walking or talking. We tried to help him, to coax him into walking, but nothing worked. Again, we went back to the Doctor and thankfully he suggested sending us to Grandview. Grandview is a children’s centre that helps children with disorders or disabilities receive critical rehabilitation therapy services they need to live a better life. It is an amazing place, and we were very thankful to be sent there.

 

When the Pediatrician that we went to see was completing a physical on him and I brought up my concern about the spots that kept appearing on my sons body. She also wasn’t sure what they were, but sent us a  dermatologist to discover an answer. I felt relieved that I would finally get an answer to these spots. Along with the dermatologist referral, my son was also admitted into Grandview’s speech and physiotherapy programs.

 

It wasn’t until the week before Christmas in 2011 that Neurofibromatosis forged it’s way into my life. My son was 1.5 years old and the Dermatologist told me he had Neurofibromatosis or NF-1. He never explained it to me, or what it meant for my son, he just left it at that and told me to follow up with my pediatrician. Now honestly, what mother could get news about her child and not want to find out all she can about it? So I did what most mothers would do, I went home and googled it. I was not expecting what I learned. After the dermatologist appointment,  I truly thought that my son would develop a few more cafe au lait spots (look like tiny birthmarks) and everything would be fine. When I learned it could be accompanied by blindness, deafness, brain and spinal tumors, loss of limbs, learning disabilities, etc., I became obsessed with reading all I could. That was a really hard week for me.

 

Instead a few cafe au lait spots, I learned that my innocent little boy would have a life of uncertainty and possible judgement by others. The worst part was that as a parent, I cannot even prepare him as I don’t known what is going to happen or what to expect. This disorder is progressive one and each case is vastly different from the other that no one, not even the doctors, can predict what will happen.

 

A week later, our struggles continued as he was admitted to the hospital for breathing problems once again. This time it turned out that he was having an asthmatic episode. The attending pediatrician was amazing. He not only helped us out through our new asthmatic discovery (and how to use puffers daily), but he also listened to my concerns about the disturbing diagnosis of Neurofibromatosis that I had received the week prior. Although he wasn’t an expert on Neurofibromatosis, he took the time to look up some information and scheduled an ultrasound and a cat-scan for the following week (as Neurofibromatosis causes tiny tumors to form both inside and outside the body). The ultrasound and cat-scan came back clear, which was an amazing sigh of relief for all of us. Following these tests we were referred to the SICK KIDS HOSPITAL in Toronto and our journey on understanding the Neurofibromatosis road of life began. Finally, I felt like we were doing something to fight against this disease and no longer feel so lost and helpless.

 

We have already the affects of this disorder in my son’s 3 short years of life, but we have also seen him surpass many challenges. He is such a strong spirited boy who doesn’t let this disorder slow him down and I hope that he carries this passion for life as he grows.
Neurofibromatosis is a disorder that is not fully understood and as a result, research on it is limited. For my son and all of the other people suffering from this disorder, I want to help spread awareness of this disorder with the hopes that maybe if more people know about the disorder and the affects, there will be less judgement for the people suffering from it.

Cure NF

And Maybe in his lifetime they will find a cure. 
~Mommy J (Follow her journey on Facebook)

SOME INFORMATION ON Neurofibromatosis NF-1

NF is defined by tumors, called neurofibromas, that grow along nerves in the body or on or under the skin. As the tumors increase in size, they can press on vital areas of the body, causing problems in the way the body functions.

SIGNS / SYMPTOMS

neurofibomatosisNF1 is sometimes diagnosed in younger children, especially those with more severe forms of the disorder. One key to early diagnosis of mild NF is the appearance of café-au-lait spots on the skin. If a young child has five or more, at least ½ inch in size (ie. a dime), a doctor will look for other clues that may indicate NF, including neurofibromas — tumors on, under, or hanging off the skin — and Lisch nodules, tiny, non cancerous tumors on the iris (the colored part of the eye), etc.

Neurofibromas often become evident on various parts of the body, neurofibomatosisbeginning at the arms, around 10 years of age. A child may also develop freckling in the folds of the skin of the armpit or groin or on other parts of the body where the skin creases.

 

Abnormalities of the skeleton, such as the thinning or overgrowth of the bones in the arms or lower leg, curvature of the spine (scoliosis), and other bone deformities also may be features of NF1.

TREATMENT

Treatment for NF1 includes removal of the neurofibromas for cosmetic purposes, treating the complications, and getting intervention for children with learning disabilities. Kids will be referred to appropriate medical specialists to monitor and treat complications, which may include:

• seizures (up to 40% of children with NF1 have them)
• high blood pressure
• scoliosis
• speech impairment
• optic nerve tumors (which can cause vision problems leading to blindness)
• early or delayed onset of puberty

Help find a cure for this puzzling disease!

Consider donating to this heartbreaking disease at Canada Helps or if you are in the Clarington Region, join us at:

garage sale

Disclosure: This is not a sponsored post. This post is written and promoted based on the hopes we can bring awareness about this disease and aid in finding a cure!

About Author

Jenn VH

My name is Jennifer, I'm 31 years old, married to my University sweetheart and I'm a working mother of 3. 1 Heart, 1 Family was born of my love of sharing parenting advice to my mommy friends.

32 Comments

  1. This is so important to help spread awareness about! Although I’ve heard about it before, I really didn’t know TOO much about it or what signs/symptoms to look for. It’s always good for parents to be knowledgable of the symptoms that could be affecting their children. So sorry your son has to go through this, but so glad that you now have answers and hopefully better times ahead! Thanks for sharing your story :)

  2. Erin @ Lifes Little Detours

    I can’t even imagine. It was difficult for me when I got my own son’s multiple diagnosis when he was 2 1/2 but nothing near as tough as this. Definitely something we need to help spread the word and educate people on. Best wishes to the family <3

  3. As a Mom I can only imagine how hard it is to see one’s child suffer in health. I pray awareness for Neurofibromatosis grows and yes, in this little one’s lifetime a cure is found.

  4. Sherrie W.

    Such a heart-warming post, but also educational and an important step in spreading awareness. I didn’t know about neurofibromatosis — and I hope your friend’s son continues to overcome the challenges he faces from the disorder. It seems like a difficult and uncertain road ahead — and I hope a cure is found soon.

  5. Wow what a journey you’ve been on. I know from personal experience that the uncovering of childhood illness is a scary thing. All the best to you. Thank you for sharing!

  6. Tasha

    Thanks for the info on Neurofibromatosis. I had no idea that this disease existed until this post. Sounds very scary, glad things are looking up for your son, here’s to hoping they will find a cure someday.

  7. I had never heard of neurofibromatosis until I read this article. Thank you for keeping us informed about this disease.

  8. I applaud her for speaking out, I will be sharing for sure!

  9. Mommy J~ Thank you for educating me on Neurofibromatosis! I had no idea this even existed. I’m sorry your first doctor didn’t do more to assess the skin spots. Sometimes they just brush us off as worried moms… I wish the best for your son and family!

  10. Oh my gosh … what an ordeal you’ve been through. It seems that parents whose children have a rare disorder really go through the worst grind trying to figure out what’s wrong and get medical attention. I’m sorry to read how much you’ve been through and I really admire your determination to spread awareness. That’s why the internet is so fabulous … no matter how rare, there has got to be people somewhere out there in the world facing the same thing.

  11. Alaina Bullock

    Oh wow! I hate hearing this! I really hate that it took the doctors so long to listen to you and even consider that something may not be right! Will share, and have added ton this year’s donation list.

  12. Wow, I have never heard of this before and I did not realize it effects so many children. 1 in 3000. Just wow. I am so glad you are bringing issues like this to light and hopefully further advancement to a cure. Praying for your little boy!

  13. So scary! Thank you for bringing awareness to this and I pray there is a cure someday soon.

  14. I G+ and tweeted to help get the word out.

  15. Kathleen Kennedy-Leon

    thank you for sharing your personal story. I’ve already pinned your flyer & will be tweeting it out next–good luck with the fund raiser. I hope your son continues to surpass expectations and do well.

  16. Thanks for sharing your experienced and story. I never knew about this disorder until you shared it.

  17. I feel for your friend, Momma J. I can’t imagine what she had to go through. So many things I think get by Doctor’s sometimes. One of my children that I provide childcare for, at the age of 6, was diagnosed with constipation at first then they thought maybe she had broken a bone but in the end 2 months later it ended up being neuroblastoma in stage 3. She fought her way into remission and is now 9 years old. Technology is out there to fight things but we all have to be aware of issues and push things so that these Doctors have our help in diagnosing our children.

  18. I’m SO sorry to hear about this and wish you all well. I love that you’re bringing it to light though in case any other moms out there have children experiencing the same symptoms and don’t know what it is or where to turn.

  19. Jenn

    Thank you so much!

  20. Angela Christopher

    What an amazing story. I pray for you and your family. Stay strong mommy!

  21. HUGE HUGE hugs to you, I can’t imagine how it feels to have a child going through health problems. I first heart of Neurofibromatosis back in the ’90s – I’m a huge fan of the show “The X-Files”, and the actress Gillian Anderson is a huge advocate for NF because her brother has it. Thank you for sharing your story and spreading awareness.

  22. Dani@Lifeovereasy

    As a mother, this was heart-wrenching to read. Any time out kids have issues, we suffer along with them. I hope your son does well and a cure is found soon. You never know what miracles lie ahead.

  23. Ruby

    I can’t imagine having to go through this.

  24. Thank you for sharing this information with all of us. It is important for parents to be aware and know what to look out for.
    I had heard of the NF-1 mutation previously in a genetics class but had forgotten about it until now

  25. Karen@NourishWithKaren

    Thank you for sharing this story on your website! Children are amazingly resilient in the face of adversity. I have pinned the Signs and Symptoms to my Infograph page. My thoughts and best wishes to you and your family as you carry on in this journey!

  26. Jenn

    Thank you very much!!

  27. I had never even heard of this before. Thank you for sharing & spreading awareness!

  28. My son is 11 and has Neurofibromatosis. He was diagnosed (finally) only a few years ago

  29. Jenn

    *HUGS! I wish you all the best!

  30. Thank you for the important information on Neurofibromatosis, I hadn’t known about this disease either.

  31. Tia

    Thank you for sharing your story and this info. I wasn’t familiar with NF. Sounds like you have a strong family with one strong mama!

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