Meet Asher, the sweetest, most lovable little boy who was diagnosed with Börjeson-Forssman-Lehman Syndrome, or BFLS.

Asher was born on December 15, 2020 and what should have been the happiest day, quickly turned into the scariest day of our lives. He was rushed to the NICU and after a few hours of waiting, the doctor finally came back in and said he was the sickest baby in there. We had expected a normal, healthy delivery and baby and that was not what happened. Asher ended up being transferred to Valley Children’s Hospital in Madera, where he ended up spending much time over much of the first half of the year, with doctors completely stumped by his health issues. After countless trips to the hospital because of Asher stopping breathing and turning blue in our arms, sometimes being admitted, sometimes being sent home straight from the ER, and sometimes even being life flighted back to Valley Children’s, the doctors never had answers and we were always sent home feeling so uneasy and worried that it would happen again. At four months old, we finally got the diagnosis but even after he was diagnosed, it was difficult to make an accurate prognosis because it didn’t change what was happening, he was still having “episodes” and none of the tests were providing any more information. It was assumed that all of those episodes of turning blue were a combination of reflux and his low tone, sleep apnea, and seizures. So while the diagnosis should have provided more answers for us, it ultimately left us with even more questions. But as we’ve navigated this last year and figured out our new normal, the one thing we have learned is that the best thing for these kids is early intervention to help them improve and thrive sooner. Asher is now on the right combination of medications and is connected with amazing therapists, specialists, and doctors and is doing so much better. We are so grateful for where he is today, but there are still unanswered questions and a future we aren’t too sure of. We need more research, gene therapy, and more solidified answers.

Cora Rose was born in 2015 and diagnosed in 2016. She's a happy, loving girl, whose smile and laugh is so contagious! She loves her family, children and animals! Music is her favorite thing and loves Trolls! We were lucky enough to find a "quick" (1 year of looking) diagnosis of BFLS and were quick to learn how rare this is and even more rare for females. We were given information that included black and white photos and much of which did not relate to Cora at all and only a few dozen documented cases to date from its discovery in 1962. Then isolating the deletion in 2002. With the increased technology and ability to test, we are finding more and more about BFLS but not enough. In 2017, myself and another mother across the Atlantic, created a family group in hopes that another family would search about their own child, and a keyword would bring up our group. Today we are up to 71 members and dozens of children all over the globe. I call them Cora’s God siblings. But still, only dozens worldwide! My wish for Cora and the rest of the families is BFLS, Inc. will connect more, bring awareness and more research! As much of our information is anadoctal by asking each other!

Zayd is a very clever two and a half year old who lives in Australia, VIC. He was diagnosed last year through sequencing genetic testing after being through a rocky 2 year journey. With the medical profession having several tests and appointments with a range of people, we FINALLY got an answer. Me as a mum became alarmed when Zayd was around 8 months of age and I could just feel through a mum’s instincts that something wasn’t right. Being told by several people: pediatricians, neurologists, doctors the list goes on that nothing was wrong, Zayd was just behind in his developmental milestones just give him some time and he will catch up. A year had gone past and not much had changed with Zayd finding the most challenging thing was to hold he’s head up while lying on his stomach. He couldn’t roll, crawl but could sit up with props around him ( pillows) I was still concerned that something wasn’t right but nothing was coming up in blood test or an MRI. After getting funding and starting speech and physio, Zayd began to improve and got stronger but was still behind in his milestones. Now Zayd has been diagnosed with this syndrome it gave us as parents an answer and something to work on for Zayd’s future although a lot of the information is not very clear. I feel there is not a lot of knowledge out there about this syndrome and I’m finding a lot of people haven’t heard of it. Zayd is still not walking but has gained so much strength and confidence through hard work from everyone. He still gets very fatigued and food is a problem with over eating but we are learning ways to manage this. I am so glad I started early intervention when I did as I feel it has made a huge difference to Zayd’s life. I would love for other parents to have more access to facilities and information about this syndrome for the future. It is so nice to have support and be able to talk to others who can relate to your situation.

She is our sweet, smart, beautiful, silly, strong willed, brave girl that constantly wears a smile on her face. She was diagnosed with Borjeson-Forssman-Lehmann Syndrome at age 1. After that, we were proactive in finding her the best therapists and doctors to help with her language and gross motor delays. With physical therapy she conquered rolling over, crawling, and finally walking right before her 2nd birthday. We do basic sign language and she says a few words. We see several different specialists for eye, kidney, heart, and teeth issues. She has graduated both physical therapy and occupational therapy and currently goes to speech therapy. Early intervention seems to be a key essential for Kenlee. With her syndrome being so rare and having so little research for our doctors to go by, it can be very hard and scary. We hope that one day we will not have to live in the unknown.

This is our beautiful sweet Isabella! Isabella was diagnosed with BFLS this December. She will be two years old in May and we have thankfully had very proactive doctors. We started noticing Isabella’s delay and hypotonia at 6 months old. Our doctor connected us with a physical therapist immediately while they began testing. She started this journey not being able to roll over, sit up, or stand on her own. To now being able to stand several minutes on her own and even taking a couple of steps on her own. Isabella had difficulty chewing and swallowing as she entered “toddlerhood”. She now meets with a feeding and speech therapist weekly that has transformed our lives. She had severe strabismus and was able to receive a surgery for correction. Our doctors are unsure what the future will bring for our little one’s health, but we are grateful Miss Isabella has kept her smile during this entire process. Looking forward to the future awareness and research of this very rare syndrome!

On September 7, 2012 at 38 +4 weeks of gestation Sofia was born, 6 pounds 11 oz. During pregnancy there was no complications but at birth my daughter did not have instant oxygen in her lungs, she couldn’t breathe. Seconds later after her first cry, she was put with oxygen to help her lungs function and she also received antibiotics during 7 days due to my fever. When she was born, she was detected with different characteristics. She was born with webbed toes the medical term is syndactyly and she was unable to open her eyes. A renal scan was conducted and detected hydronefrosis, a dilatation in the renal pelvis can affect kidney function in the future, in which she has not had any problems and has improved 100%. Genetic testing was done and no type of syndrome was detected. She was referred to a different kind of specialist to check her development. Weeks later, in one of the studies the result was there was a deletion of a part of chromosome xp22.33. There is not much information regarding this chromosome. Her eyes presented severe inflammation, she was not able to open her eyes but there were no deficiencies or problems detected in her eyes, it was just difficult for her to open them. Breastfeeding and formula was very difficult, as she would easily choke and had severe congestion in general, something that really concerned me as a parent and her pediatrician. Her provider stated it might be reflux and prescribed ranitidine, but the problem continued. When she was 2 months her congestion was so severe she was not able to breath and was taken to the ER her oxygen was at 70% and she had bronchitis. Formula was changed but medical providers did not know the reason for her often airway clogs. A swallow study was done and it was detected that all liquids were going through her air way passages and blocked airway as a result her lungs were very weak. Medical providers decided to put her a gastric tube for feeding, but then later decided to put in a G-tube. Sofia still got ill frequently and so during a visit with the ENT doctor, it was realized her adenoids were very large and was affecting her breathing. This procedure not only is to shorten the adenoids, but required ear tube insertion because her ears do not drain it can cause infection and other problems. Even though the procedure was performed to cut short, with time they grow, which requires constant check-ups. As a result, she has had 3 surgeries, the last one was performed 2020. In regards to her development, it was slower and even though there was not a specific diagnosis, she received therapy since she was 8 months. Both physical and occupational therapy was done until she was 3 years. When she started pre-K, she continue to have problems due to her muscle lag she was not able to sit on her own until she was 2 years. Her balance is what affected her the most, reason why audiology test were performed every 4 months now every year as she has progressed 100%. As the studies continued with other genetic providers, we finally found out she has Borjeson-Forssman-Lehman Syndrome, a 4 year wait wanting to know others like her! As parents you want to help them as much as you can, how are the kids? What has helped them? Thanks to her continuity with swallow studies she has improved tremendously she tolerates to eat food by mouth, food must be thick like honey and for liquids we add a powder to thicken. She does not have any respiratory problems anymore, she gets sick less, and we decreased the use of the feeding tube, and in February 2021 we got it out, we never thought that would happened!!! Her balance has improved tremendously she takes equine therapy (therapy with horses) for 2 years now which has helped with her strength and balance. At age 4 she was approved for a walker with support so she can learn to walk on her own and strengthen her legs. She can grab things on her own, it used to be a challenge because she disliked to have different textures on her hand. Now she plays, she drags herself, she can move around from one place to another, she does not talk but makes sounds and we know by her facial expressions when she is mad or happy, she blows kisses and most of the time she is happy, she loves pictures! She is very smart and it is incredible how much she understands. When she was 1, I potty trained her the only reason I use diapers is for pee and I am sure if I train her she will learn. I know there are different factors that have helped her development and one of them is her sister she is 2 years younger than her and she is her motivation she imitates her movements and sounds every day. Sofia has taught me that we should never base ourselves on the name of a sickness or syndrome or what doctors can say but in herself, her process has been beautiful she has come so far. Her therapist, teachers family members have given her all the support she needs and she feels that. As a mother, I never thought achieving what we have.

Hinrik was born in June 2018 in Iceland. From the beginning Hinrik had difficulties to thrive and slept very much. When he was three months old, the doctors began to examine him and run tests when we saw some developmental delays. When he was 6 months old he got his diagnosis, Börjeson-Forssman-Lehmann Syndrome. He is very hypotonic and has been in training with physiotherapist since he was four months old, helping him with basic motor skills like how to roll over, sit, crawl, stand and now walk. Now he is walking with a walker at the age 3 and half. He uses a occupational therapy as well and says few words. He has mild strabismus and is far-sighted and use glasses. He has some endocrine problems and has to take medicine. Our Endocrinologist has informed us a lot about the syndrome, being the only specialist in our country that is familiar with it. Hinrik is in kindergarten and gets the support he needs there. He loves playing in and with water, bath and swimming is his favorite, he also likes reading books and playing with his cat doll. He is very loving, happy and a sweet little boy.