A Rarity

The last day of February is called Rare Disease Day.  The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. 1 in 20 people will live with a rare disease at some point in their life (doesn’t seem so rare does it?). So why am I telling you this? Because 4 years ago one of our children was diagnosed with a rare genetic condition. We haven’t talked too much about it because honestly…at this age it’s very wait and see.

Our son Gideon was diagnosed with Noonan Syndrome-Neurofibromatosis 1 or NS-NF1. It’s actually characterized as Neurofibromatosis with manifestations of Noonan syndrome. I don’t know that it makes any difference what you call it. Even the scientists don’t know if it’s an overlap of these two conditions or if it’s a new disease entity itself…so if they don’t know then neither do I. Noonan syndrome occurs in 1:2500-3000 people. (February is also Noonan Syndrome awareness month). Interestingly, some people can have such mild symptoms they aren’t aware they have it until they have a child affected. In Gideon’s case it is a random mutation (meaning neither Kerry nor I have the condition). Since it’s an overlap of two different diseases, I’ll talk about each of the separately.

Noonan Syndrome a wide spectrum of symptoms and physical features that vary greatly in range and severity. There are lots of characteristics of this disease that do not appear to affect Gideon at this time. He has started to ‘grow into’ some of the physical characteristics that were a bit more prominent at birth. Noonan syndrome is characterized by short stature (he is average height for his age currently, but this may change as he gets older), specific heart defects (he was born with a heart defect, but he has been given the “all clear” and we only have periodic monitoring now). Many kids with Noonan syndrome blood clotting and platelet deficiencies (his were normal this last year, but had been abnormal previously), learning difficulties or mild intellectual disability. Noonan syndrome is an autosomal dominant genetic disorder (meaning if he has children they will have a 50% chance of getting the disease). You can read more about Noonan Syndrome here: https://rarediseases.org/rare-diseases/noonan-syndrome/ Please remember that kids can be affected very mildly or very severely by this disease. Thankfully, Gideon seems to be on the mild end of the spectrum.

Neurofibromatosis 1 is also know as Von Recklinghausen’s disease. This condition is characterized primarily by changes in skin color and the growth of (non-cancerous) tumors along the nerves of the skin, brain, and other parts of the body. The severity and specific features can vary greatly from person to person. Gideon has many more of the features of NF1 in that he has several cafe’ au lait (birthmark) spots on his body. We were at a well child check and the doctor asked Gideon to show her where is heart was. He promptly lifted up his shirt and pointed to his arm pit…where a heart shaped spot is. The biggest concern with NF is the formation of benign tumors under his skin. Children with NF often have tumor formation on their optic (eye) and ocular (ear) nerve pathways. Sometimes these can lead to vision or hearing loss. So far, Gideon does not seem to have any tumors but they typically occur during growth spurts and puberty so we will monitor more closely as that time approaches. Gideon also has what they call lisch nodules on his eyes. These are clumps of pigment on the colored part of his eye that do not affect vision. You can read more about NF here: https://rarediseases.org/rare-diseases/neurofibromatosis-type-1-nf1/

The management for both is symptomatic and supportive. So that’s what we do. For now, we really just treat him like a normal kid with a little closer monitoring. He sees a pediatric dematologist, cardiologist, hematologist/oncologist and opthamologist on a yearly basis. We take a little trip to Kansas City and see all of them in one fell swoop. His appointments thus far have been relatively normal and low key. His heart murmur caused by the defect is almost non-existent and this last year we were told we didn’t have to follow up for 5 years. His blood clotting studies were within normal limits this last check so we don’t have to check again for another couple years. We will see the dermatologist and opthamologist yearly forever. He did go to speech therapy for something call Apraxia of speech (which may or may not be related) last year and will be re-evaluated again this year to determine if he should resume that. We were warned learning may be a challenge for him. Our pediatrician told us he’s the best environment possible to support his learning and education…a house full of siblings who are learning alongside him and an environment where he can be taught how he needs to be.

We’ve known about Gideon’s diagnosis for several years but haven’t shared much about it. Part of that is because quite honestly…we’re not big drama people and didn’t want it to change how others treated him. We still don’t want others to treat him differently. So why share now? It just feels like a good time. I’ve had a couple people recently comment about his physical appearance and how he looks “different” from the rest of our family (we think he looks perfect of course) and also as Gideon gets older we want to be sure we are open with him about his diagnosis. Right now, he really has no idea other than he gets to go to Kansas City every year. We will need to have very frank conversations with him when he is able to understand about the likelihood of passing this condition to his children and just because his symptoms seem less severe his children would not be promised the same outcome. We also share because as he grows the likelihood tumors will develop increases. This can affect physical appearance, cause pain when they compress on nerves and impair his sight or hearing.

We know that God knit Gideon together before he was born and have never doubted the gift that he is to our family. He has an amazing personality and sense of humor. He loves his siblings and babies (ours and everyone else’s) immensely. If I could bottle his laugh I would. We pray that God will protect his vision and hearing, but trust that if these are affected God will provide us with what we need to face that challenge.

So this month raise your awareness about rare diseases. Hug someone affected by one and celebrate their uniqueness!

2 thoughts on “A Rarity”

  1. You and your family are such a testament of Faith, hope and encouragement to others. Prayers and thanksgiving for your testament of faith and family.

  2. Gideon is a ray of sunshine! He has the eyes of an overcomer! His name fits him well! He is blessed with a strong supportive family. My prayers will be with you for guidance on your path as challenges arise! The faith and the love your family shares have built a firm foundation for years to come! Thanks for sharing your heart Erin!!

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