So it’s been a few months, but in those few months we had a lot go on from getting Emma AFOs, to Emma’s first crawl, to family vacations, to her first plane ride, turning 2 years old, to new specialist consultations each month to figure out what the heck is going on.
In May after no other physician being able to conclusively say what Emma’s diagnosis is we finally saw a Geneticist. At that appointment he was just as stumped as Emma’s other 9 specialists as to what to call her symptoms because they are all so different, they stand alone or can all be caused by one singular thing. We decided it was best to undergo Whole Exome Sequencing and do a comparison to Diana’s genes to see if we could at least narrow down something. Due to having a private donor we couldn’t do much with that half of her genetics until we had the results that could then be tested through our cryobank. They did a simple cheek swab of the two of them and off on our merry way we went being told it would be about 2 months until the results came in. Those two months came and went so fast that we were then sitting and waiting, and then doing some more sitting and waiting. Luckily for us we had enough going on that we were distracted enough to not have anxiety attacks with every day that passed. Emma went on her first (second, third, fourth, and fifth) plane rides to watch two of our friends get married, one in Portland, OR and the other in Baltimore, MD (which we made a week long girls trip in Washington DC). Emma got a whole new team including a new vision therapist, and began physical and speech therapy. We had every day life happening with the business and me transitioning to be a full-time stay at home mom. The biggest thing that happened during our waiting game was babygirl turning 2 and no longer being our baby, she is now a toddler.
After waiting for over four months, the day finally came for our beautiful little girl, we got the call from the genetic counselor and we are now able to put a name to her symptoms. She was officially diagnosed with Bosch-Boonstra-Schaaf Optic Atrophy Syndrome also known as BBSOAS also known as NR2F1 (which is what we have been going with since it’s much easier). As one does, we immediately went to google to see what we could find but it has just caused even more confusion and uncertainty. From the research we have been able to do, NR2F1 was first discovered in 2014 and as of the latest count done in the beginning of 2019 there are just over 100 people globally diagnosed with this gene mutation. One of the things we learned is that for Emma (and a good majority of others diagnosed) this mutation happens at random. It wasn’t passed from either Diana or the donor as it is a dominant gene and it would have prevented the donor from being just that because he would not have passed the initial gene screening. It was like we finally got electricity after sitting in a dark room for months. The lights came on and things started to make sense. Just reading the symptoms alone made everything come together and not just a maybe it’s this or maybe it’s that anymore.
Common Symptoms
- Vision Impairment
- Optic Nerve Atrophy
- Two past diagnostic tests confirmed this in the past
- Optic Nerve Hypoplasia
- 3 out of 6 Ophthalmologists we have seen have said it could be this along with endocrinology and therapists
- CVI (cortical visual impairment)
- 2 out of 6 Ophthalmologists have said it could be this
- Strabismus (cross-eyed)
- She has this and the glasses she wears are to help correct this
- Optic Nerve Atrophy
- Hypotonia (low muscle tone)
- She has had this since 6 months, she has gotten stronger in her upper body, but she still shows it in her lower extremities
- Developmental Delay
- At 2 years old she functions around a 9/10 month old level in nearly all aspects of life
- Oromotor Dysfunction (swallowing issues)
- Has these, she is starting feeding therapy to help combat this issue
Granted not all of her symptoms align with this syndrome, a large chunk of them do and we are glad to have something. Now when I go to meetings and groups for special needs parents I no longer have to say, we don’t have a diagnosis, she possibly has l, m, n, o, p, q, r, s. We are doing every bit of research we can; to the point of using my sister-in-law who is in medical school to find new information and journals we can read. Because there is so little known we just have to sit and wait for anything to come. We can be vigilant in keeping up with her diagnostic tests and seeing her specialists regularly and just treat symptoms as they arise. Unfortunately many of her symptoms won’t be helped with medicine or diet or essential oils, just good ole hard work and dedication and doing her therapy exercises with her even when we are both on the verge of tears. Now I’ll go back to doing my reading, and googling, and instagram/facebook stalking to find any and all resources we can.
If any parents with beautiful NR2F1 kiddos stumble upon this find me on facebook or instagram or email and lets connect so we can help spread awareness of rare diseases like hers! And anyone else with questions don’t hesitate to ask them.
Emma Has Two Moms 