Khloe is such a light in our life; she is such a happy girl and enjoys many things, she has quite a personality of her own already!  She loves the water and taking adventures with mommy and daddy and brother! She loves her brother and play time with him. She also loves the outdoors!  She loves music and is very vocal as when she is excited she will yell out and kick her little legs she is also a little giggle box!  She will definitely let you know when she is aggravated or upset about things she will also scream then as well lol!  She visits therapies each week and we are currently working on head control, sitting up and different foods to try!  She’s made and is continuing to make good progress!  She did recently have tubes placed in her ears and she’s discovering all the new noises around her!  She loves love and enjoys every bit of attention especially cuddles from everyone!

Khloe’s TFE3 Journey

Our journey really began at birth.  She was a little early at 36 weeks.  At birth she did have to go on oxygen due to the umbilical cord wrapped around her but thankfully nothing serious only a few moments on oxygen and she was fine.

She then failed her newborn hearing screening, they told us this was normal it could just be amniotic fluid in her ears to give it time.  She then had an umbilical hernia which her case was rare, none of our doctors had seen this type in person before, but that quickly resolved itself.  Khloe was a very “chill” baby she didn’t cry much, she was very quiet if she did cry, but over all I thought I just had a very “easy” baby which, we thought at that time was great as we had a 5 year old starting kindergarten the week after she was born!  We continued as “normal” with her regular doctor but she continued to fail hearing screens.  Just a few months home and Khloe developed a inguinal hernia, which also is rare for girls to get.  We set up a surgery date and waited.  She then shortly after, due to “noisy” breathing was diagnosed with laryngomalacia, which essentially she has an extra flap of skin growing over her airway/voice-box.  This is where she began to get more fussy and not sleeping much.  In this time frame she was also diagnosed with acid reflux.

Hernia surgery went great although they said the other side of her abdominal wall was weak, they did go ahead and put stitches on both sides to try to strengthen it but, to watch out because the chance of her having another in her lifetime was higher.  After this surgery for a few months we moved on and thought that was it for surgeries, but due to her hearing the E.N.T. Suggested maybe tubes in her ears were the right move. We decided to move forward to see if we could get her hearing and since she would already be under anesthesia to go ahead and proceed in a procedure to help with her laryngomalacia.

We discovered with this she had a submucous left cleft palette – she just has a hole in the back of  her throat connecting nose and throat where usually there is a “wall” there – also she had a bifid uvula – her uvula was split in 2 – which is common with the cleft palette.  Khloe at this time was starting to not hit milestones, such as, sitting up, attempting to crawl, “talking”, eye contact or smiling/laughing at the typical things babies would; she did not play and she would just lay and look at lights or the walls.  She just seemed to be in her “own world” most of the time.  She was still not sleeping “great” and very fussy we all chalked it up to “colic” or just “typical infant behavior” or possibly gas issues including doctors.  Khloe started to become congested a lot and kept getting infections.  We happened to take her to an E.R. we hadn’t been to before one evening when she become inconsolable.  This is what began our genetic journey.  He noticed she had hyperpigmentation all over her body which I had honestly never paid attention to before.  Our main concern at this point was a liver or heart issue.  With the geneticist they believed at first glance and all her medical issues she may have had a different rare genetic disorder “Cornelia de Lange” but with testing it came back negative.

Thankfully they offered us to keep digging to see if there was just anything else. Her father and I were also tested to see if maybe something could’ve came from either of us.  With this last test and push right before her first birthday we had a diagnosis.  “Heterozygous pathogenic variant in TFE3 gene with pigmentary mosaicism and coarse faces.”  They explained that they do not know a lot about this diagnoses due to the fact it was so rare and there was less than 100 cases worldwide.  They did inform us they seemed to have found a group on Facebook about this condition, and it would be worth possibly looking into since there was no one in the same state as us with this condition to talk to.

We were told kind of what to expect but also each case was unique as well, but also Khloe’s medical history made sense with this diagnoses.  With this we moved forward, got her laryngomalacia surgery with ear tubes, it went great she now has great hearing.  We started in physical therapy and occupational and feeding therapy, and also got started with a E.I.  Khloe still cannot sit up on her own and crawl, she has severe hypotonia.  She still struggles with infections and what we believe and are working on getting looked into, G.I. Issues.  She has seen “sleep medicine” where she was diagnosed with insomnia and sleep apnea which we will have another surgery to remove tonsils and adenoids by the end of this year to try to improve these issues.  We also recently got the diagnoses of severe asthma.

She’s became *when feeling well* such a happy girl, she now laughs and plays and will smile at you she loves water and playing with her big brother, squishy toys, and things that have different textures to feel.  She loves chewing on everything she can get her hands on and loves eating.  She still struggles with feeding herself but we continue to work and she’s getting better.  She can eat just about anything you give her.  We’ve seen nothing but progress so far as we continue to work and get her all the help she needs.  As any parent we want to see her thrive to the best of her ability and continue to do everything we can to give her the best life she can have.  It’s not all easy there’s more in between all of these times we’ve struggled with and pushed through.  But to have such a precious little girl bring such a unique light into our lives that not everyone gets the chance to experience is such an amazing thing!  We want to continue to learn more and meet more people going through similar, we’d love to share more and get to know what we can get to know!  We’d like to join in more with this community and bring light to this so hopefully more people can receive answers.