Hi! My name is Meghan Yarnall and I am the mother of a 5 ½-year-old special needs child named Gwendolyn and an 11-year-old named Ryleah. Gwendolyn was diagnosed on October 13, 2016, with a rare chromosome mutation in her SOX5 gene. There have only been about 20 kids ever diagnosed throughout the world with either a deletion, mutation of partial deletion of this gene which makes this extremely rare. I have been going back and forth with what to write about and I think instead of talking about traits of the SOX5 gene and symptoms associated with this I am going to talk about what I did to find this incredibly rare diagnosis for my daughter and the fight it took us to get to where we are today from a medical standpoint. For more information about Gwendolyn and her journey, you can follow my blog which will be up by mid-January. Our Facebook page is called; “A girl with different SOX. Gwennies Journey”.
My story begins in 2014 right around when Gwendolyn was 9 months. We went to her well visit and they gave us this tablet to answer questions about milestones. I remember my husband was with me during this appointment and we were almost laughing because we thought the milestones they were asking about were a joke because we kept hitting “No” for all of the answers. Mind you, I do have another daughter but they are 5 ½ years apart so it kind of slipped my mind as to when my oldest was able to do what they were asking. At the appointment, the doctor told us that she wouldn’t be too concerned yet but encouraged us to call early intervention to see if she qualified for services. So the mom in me freaked out and called early intervention as soon as we got home. Long story short, they came out and did their evaluation and told me that 9 months was too early and to call back at 12 months. I figured they knew better than I did and maybe this was all in my head and she would catch up soon. Fast forward about to about 11 months… You know when your babies teeth start to come in and you can see the little buds in their gums that are white? Well, I could tell her little teeth were starting to pop through because she had little bumps on her gums.. but there was no white in those bumps. Now I started to believe I was nuts and that when they popped out we would have some white pearly teeth. A week or so later I go into daycare to pick up Gwennie and her teachers looked at me and said, “Meghan, have you seen Gwennie's teeth? They are coming in black.”. This was the moment that the change happened. I no longer believed I was crazy. There was something wrong with my daughter and I knew it and SOMEONE was going to help me. This is basically the moment that I lost my you know what and started to become a special needs mom.
Stay with me here for a second, I want to let you know what a special needs mom is. We are the toughest women on the planet with superpowers inside of us that we didn’t even know we had. We fight for our kids, we cry for our kids, we go to countless doctors appointments for our kids, we put on a happy face in front of the world for our kids and most of us feel like we are fighting alone. Oh, and of course we also work full-time jobs and have other kids to take care of ya know, as our side gigs!
So where were we.. Ok so at this point Gwennie is about 12 months old. I call back to early intervention and request another evaluation. This time, I got a bit smarter and seriously staged our evaluation. Every time my daughter would give anything solid to eat she would throw up so I think I let her try to suck on a puff and I was going to wait until the team got to my house but Gwennie happened to throw up a few minutes before they got there. I didn’t clean it up until they walked in and saw that she had just thrown up because of a puff. Call me what you want for that but we got every service we requested after that evaluation. Mind you, she would have qualified with or without the vomit because at that point she had made no progress from the time they saw her at 9 months old. My point in telling that story is that you do what you have to do to make specialists “see” your child. From that day on Gwennie received speech twice a week, OT once a week, PT once a week and a special teacher. We did add services as needed and when a therapist wasn’t working I was encouraged to ask for a different person and to not feel bad about it which is exactly the truth.
Once I had the early intervention approval I knew I had to start digging into the medical part of this because I HAD to know why my daughter was having the struggles she was having. My first thought (keep in mind, I had NO IDEA what I was doing) was to call developmental pediatrics at CHOP because why wouldn’t I when my child is delayed? Well, they don’t see children until they are 2 and there is an 18 month waiting period to even be seen. Ok… so I did what I had to do to be put on the list but there had to be someone else that could help me in the meantime. My next thought was, can my daughter hear? Is that why she is having speech issues? I go home that day and do the ultimate test of hearing, banging pots and pans over her head. Well, Gwennie didn’t even flinch when I did this so it was time to call the ENT at CHOP, I scheduled her for an audiology test and a visit with the specialist. We go to the appointment and the results came back that her eardrums weren’t functioning properly and all she could hear were muddled sounds so we scheduled surgery for her 1st set of ear tubes. Due to a heart murmur, we had to receive a clearance from cardiology for surgery which we did get. She received her 1st set of ear tubes and had her “tongue tie” clipped on August 28, 2014. She is now on her 3rd set of tubes.
At that same time, I knew someone else had to see my daughter because of her delays so my 2nd thought was to call a neurologist. I really had no idea what their role was but they worked with the brain and clearly, there was something not connecting right in there so why not make an appointment with them. I went to see a young lady at CHOP and to make a long story short, she basically thought I was crazy and needed to give my daughter some time to develop. I demanded an MRI of my daughter's brain which they granted me after fighting with 2 different doctors. They also did a very small genetic test of common syndromes that might possibly be associated with her delays. All of the tests came back clear and I switched neurologists because this woman truly believed Iwascoo coo. The 2nd neurologist saw what I saw in my daughter and was much better. She asked to see us every 3 months and gave me some suggestions about different tests that might give us some answers. You see, whenever someone saw my daughter they just looked puzzled because she showed signs of a little bit of a lot of things but nothing that stood right out. After 2 or 3 visits with this doctor, she announced that she would be leaving to go to another satellite office in New Jersey so she referred us to a colleague in the same office. I am still with that neurologist today and after she figured out that I knew what I was talking about she let me lead the way. I asked for 3 different genetic tests that she ordered. She asked us to do an overnight EEG which I willingly did. She answered my calls when I thought my daughter had a seizure and she has allowed any therapist of Gwennies to come to an appointment that they want. She also got us in to see Developmental Peds at 2 ½!!! She saw what I saw and heard what I was saying. What I have learned from this particular journey is that you HAVE to find doctors that will work with you. It’s completely ok to ask to see another doctor and does not ever let anyone tell you that you can’t.
Our next journey came when Gwennie started to walk which was at around 22 months. I started to notice that she couldn’t see right. I had no idea what “right” meant but I knew that she was not completely aware of her surroundings. I started asking the therapists what they saw and if they understood what I was trying to say and they all understood and were very concerned. I actually think we started to notice this around 18-19 months when she started to finally feed herself and she would just grab and not look at what she was eating. What I was seeing though was that when something changed in the environment, for instance when she would walk on the road and there was a black line of tar she would get down on all fours and crawl over the black part and if there was a black driveway she wouldn’t go near it. Everyone first thought when you seem to have a vision issue to go to the eye doctor.. so I did. He told me that he had no idea what I was talking about and that she was not far or near sighted based on his measurements. Ok, thanks to Mr. Doctor onto the next! Then I decided to go to an out of network eye doctor that I heard rave reviews about. He told me the same thing that she wasn’t near or far sighted but she had some trouble with her eye muscles and her eyes working together. He called it some “Y” thing.. I don’t even remember. Next shot in the dark was to try a developmental optometrist which is a joke. They aren’t covered by insurance and I quickly learned why after our appointment because they basically offer vision therapy but for around $300-$400 per hour. Yeah right! The next practical avenue to go down was to start with vision therapy with an early intervention which we received two different therapists. The first person that saw her was the person to refer our 2nd therapist which was called an “OM”. His name was Walter and I will never forget our first visit with Walter. A week or two before we started vision therapy Gwennie suffered a concussion from falling literally on her face at daycare because she didn’t see a step so I’m sure you can imagine my nerves were at an all-time high with this issue. Walter came into my house and did a couple of activities with Gwennie. He asked her to find this little puffy ball by calling it a certain color and there were 2. She found the ball but I told him that she only went to that one because she couldn’t see the other one. I just happened to be right and after a few more observations he was certain that Gwennie had a cortical visual impairment. This was the first real concrete diagnosis we had received in regards to what was going on with my daughter. I’m pretty sure I hugged Walter at the end of this appointment because someone FINALLY was able to explain to me what I was seeing. From there we went to neuro-ophthalmology where we found out that she had underdeveloped optic nerves. He asked to see Gwendolyn every year and to give him any updates on any diagnosis’ she might receive. We recently saw him again and he realized that her optic nerves were more underdeveloped than he had originally thought so he asked us to see endocrinology. He also let me know how lucky we are that Gwennie isn’t blind. Ummm… Thanks??? The “eye journey” really confirmed to me that I absolutely know what I am talking about when it comes to my daughter. There is no one that will stop me from helping my baby so if someone says they don’t see it, the next person might. In my case the next person did.
The last journey I am going to write about is our genetic journey which is probably the craziest and most important journey. At some point when Gwennie was about 2, I decided that we needed to see a geneticist. I honestly have no idea where it came from but I knew that is the next place we had to go. I didn’t know what to expect and I didn’t really even know what these people did but I just knew that they might be able to help me. In late August of 2015, we went and the appointment is a little bit overwhelming. There are people analyzing every measurement of your child. They ask you about 2 million questions about family history that you have no idea about and then the long-awaited geneticist comes in and gives her evaluation. She told me that she would give us 2 tests one for FragileX and the other for a whole genome sequence which she wasn’t sure if insurance would cover but she would try. Well, insurance didn’t cover it so she let us be apart of a research study at CHOP that did the full genome test. We had that done on November 11, 2015, and was told it would be 6 months to a year. In the meantime I decided to learn about every genetic condition there was in order to self diagnose my daughter so I didn’t have to wait for the test. I do not recommend this. I happened to come across angelmens syndrome which on paper fit my daughter to a T. I started joining every angelmens facebook group I could, some wouldn’t let me in their group because we weren’t formally diagnosed. If you don’t feel alone enough during this process being rejected to a Facebook group pretty much seals the deal. There was one group I joined where everyone was so nice. At one point I had our neurologist order an angelmens test which came back negative. I don’t know how to properly explain this but I felt defeated so I went to my Facebook group to see if anyone had a false negative and there were quite a few. After I posted that a woman messaged me and asked me some questions about my daughter and asked if she could share my information with her geneticist at The Children's Hospital of Boston. Of course, I said yes and within a day I was on the phone with a man who listened to me for over an hour. He assured me that she did not have angelmens because they all have seizures by this point but it might be an angelmens related syndrome that is rare. He asked me if he could order the full genome test and I explained to him that my doctor from CHOP tried without success and he just told me to let him try. He also told me he knew our geneticist at CHOP and was very confident in her abilities. They even talked on the phone about my daughter. About a week later he called me to tell me that the test was approved and I had to have CHOP sign off for the referral for the test even though he was the ordering doctor. After a little bit of push from me (a lot) for CHOP to sign the form the test was ordered and we just had to have our blood drawn. I think we had the blood drawn mid-August of 2016. In the meantime, I kept checking in to see how the research study was coming. On October 13, 2016, I received an e-mail saying that they had the results and they would call me within the week. I received this e-mail while I was on a conference call with work and I had a lunch appointment directly after. I can’t believe I was able to function and by the way, I replied with “I need to talk to someone today about this; you can not make me wait”. At 2 pm I finally called and they told me that my daughter had an extremely rare chromosome mutation in her SOX5 gene and only about 6 kids have ever been diagnosed with this. This was the genetic counselor telling me this and our geneticist was on vacation so we had to wait 2 weeks to see her. The day after I received the news I went out and got a tattoo of the rare genetic ribbon and posted it on Facebook with the hashtag SOX5 in hopes I would find any other post with this word. Within a day I was talking to other moms with SOX5 kids. I can not explain to you what this felt like, I was in tears but I was also very angry and confused because it hasn’t even set in that I had just received a diagnosis that would affect my whole family for the rest of our lives. I called our friend from the Children's Hospital of Boston to let him know and he was very happy that we found what we were searching for and to stay with CHOP because they can really help us. I swear to you that Dr. Hann was an angel sent from the skies above to help us. I would have to say that the lesson from my genetic story is to stick with your gut. If I wouldn’t have fought for more answers about angelmans I would have never found out my daughters diagnosis. I again do not recommend researching ever genetic condition but if you happen to come across a diagnosis that fits your child you MUST speak up and don’t let anyone tell you no unless there is another alternative.
Today, March 2019, our community has grown more than we ever thought. We are now at around 115 people in the WORLD diagnosed with Lamb-Shaffer Syndrome. We have a path for new families. We have people ranging from 6 months of age to 31. We have created a community that has become family and I am so thankful everyday that we have been given the gift of this community.
I want to leave this with letting anyone know who is reading this that you are not alone. I have to remind myself of this every single day that we are a community. When I used to ask people if they had a diagnosis and they said yes I remember being angry at that person because they knew and I didn’t. Now when I tell other moms about our diagnosis I see the anger I felt and completely understand it. I not only understand it but I am here to cry with you. We all build up this wall while we are going through this process built from watching “normal” kids on the playground, listening to “normal” parents, hearing our families tell us we are either nuts or we should do it this way and just from everyday life of countless doctors/therapy appointments. We are a rare breed of women and men that live in a secret world that no one else understands. The great part of that is WE understand, I understand.
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