In honor of Rare Disease Day and Amber's 15th birthday we are asking for donations for IDefine. All money donated to IDefine will go to support funding for research into the understanding and future treatments of Kleefstra Syndrome.
This birthday is extra special for us because a few months ago we weren't sure if Amber was going to make it to 15. Amber has Kleefstra Syndrome, a rare genetic disorder that is caused by a mutation or deletion in the EHMT1 gene at the very end of chromosome 9. The mutations are less common than the deletions and in Amber's case she has a single point mutation. This means she has a one letter switch to a different letter. She is the only person in the world known so far with this switch in the location she has it. We all have mutations. The human genome is far from perfection and most of the time it doesn't matter. For our 1 in 7 billion girl this tiny change in a terrible location set her on a very different life path than most of us the moment she was conceived.
When Amber was diagnosed with Kleefstra Syndrome October 25, 2016 we learned the risks this disorder could end very badly for her and us. Having an answer was liberating from the abyss of the unknown and also devastating to see what the future possibilities could be. Joining the Kleefstra facebook community was helpful in allowing us to see the similarities in our kiddos and not feel so alone on this journey. It has also been heartbreaking to see so many children die from complications of this disease. We were hopeful though that maybe somehow our girl would escape the regression and worst possible effects of KS. She was pretty medically stable her whole life despite the fact that she has an intellectual disability and can only verbally say a few words. Amber excelled using her electronic communication device and was a happy kid that loved to dance, play basketball and ride her 3 wheeled bike. Then at age 14 her world, our world started to fall apart.
In March 2020 Amber started having tremors in her arms and legs. By the end of April her lower abdomen started moving repetitively like a baby kicking for days straight. These things would come and go and we tried tweaking her medication with her neurologist. By June her lip had started twitching and she was starting to have very subtle abnormal eye movements. They would last 20 seconds or so and came and went. We wouldn't see it for a week or so and then it would be back. In July we saw the first time the eye movements lasted for 12 hours and then disappeared again. It was starting to take her longer to do her school work in summer school and harder for her to use her talker. It was becoming harder for her to eat. August and September brought multiple medication changes migraines, hallucinations, involuntary jaw and facial movements, profuse vomiting, extreme anxiety where she became afraid of ceiling fans, then lights, then had extreme separation anxiety. I had to be in her sight at all times or she cried. If I needed to drop something off at one of their schools Ted would have to sit next to her until I came back to make sure she didn't try to follow me out of the house. She lost her ability to do puzzles, ride her bike, get dressed and wash herself. In September her eye movements kept getting worse and she didn't want to be out of her room.
The first week of October is when she started not sleeping. She did not stay up for days she just stayed up until 3 am and would only sleep for a few hours, get up and then fall asleep again. The abnormal sleep pattern continued that week.
October 7th is I brought her in to the ER. Her eye movements kept getting worse and I thought if this was actually seizures she must be seizing constantly. Up until this point her doctors thought it was probably seizures in the occipital lobe. We thought we would be in the hospital 24 hours for an EEG, but it turned into 7, then another stay of 4, then another stay of 4. Amber underwent days and days of EEG's, multiple MRI's, CT scans, ultrasounds, xrays, IV fluids, lumbar puncture, urine samples and enough blood draws to feed a vampire colony. She was tested for every possible cancer, viral & bacterial infections and autoimmune disorders. After all of that she was diagnosed with another ultra rare disorder idiopathic opsoclonus myoclonus syndrome and began immunotherapy treatment. She continued to get worse with treatment. More vomiting, migraines, light phobia, rage. We turned our house into a cave so she could handle being out of her room and put sunglasses on her in the house. I had to start hand feeding her. Her eye movements reached their peak velocity and intensity of 120 a minute non stop 24/ 7. Ted and I had late night mental breakdowns crying and talking about what would happen if she died. We had to explain how sick Amber was to her little brothers. It was absolutely crushing. After the third hospital stay and conversations with specialists around the country she was then sent to an opsoclonus myoclonus specialist that had treated other kids with rare genetic disorders that developed OMS for continued treatment. The new team of doctors decided that she didn't quite fit the OMS diagnosis. This resulted in a 4th hospital stay of 3 days. What we know currently is seizures were not the cause of this and it is unlikely to have been true OMS, but more likely a Kleefstra related neurological regression. As for her eye movements she has seen 5 different neuro ophthalmologists now. Three said opsoclonus, one first said pendular nystagmus, then opsoclonus, then square wave jerks, and another said it doesn't look like square waves, but she didn't know what to call it. Amber's case and Kleefstra syndrome has been presented to the opthamology and neurology departments across 2 hospital systems and others via video. Nobody has been able to say for sure what her eye movements are. They now think they might be similar to eye movements seen in people with schizophrenia, but even that is questionable. Her eye movements keep changing and don't fit into any known description of abnormal eye movements. She continues to be the rare among rare.
By November Amber was oscillating between catatonia and screaming. The screams were blood curdling and we felt so desperate and helpless. Thankfully, now, Amber's days keep getting better and better. Her neurologist can't believe how well she is recovering from when she first saw her and says she is not even the same child. No she is not. In those weeks when Amber was at the worst she want not herself anymore at all. It was like losing our child before our eyes even though she was still breathing.
The problem is we still don't know what caused this. We have been told KS related, but how, what? Can it happen again? Will she survive next time? What will her life look like? Amber is still recovering. She still can't ride her bike and tires easily when walking. She still needs help with puzzles that she used to do completely independently. She has mysterious new onset profound low frequency deafness in her left ear and venous tinnitus on the right. She still has the posture and head shaking of someone with Parkinson's intermittently. Most days the lights and ceiling fans don't bother her anymore but sometimes they still do. Some days she is continent again and some she is not. The facial, chest and back flushing is gone. She recently had a few weeks of an involuntary leg movement that would go on and on for hours but that seems to be disappearing. We are super grateful for the improvements in her health and hopeful that she keeps recovering.
Our beautiful girl wants to be able to ride her bike again. She gets frustrated with using her talker so slowly now. She has to wait for her eyes to be able to refocus to see what she is typing. She is mad that she cannot use her voice like the rest of us. It is heart breaking to have to tell our child that we can't just fix it and make it so she can talk.
With the continued work of IDefine there is hope that someday she can ride her bike again, someday maybe her eye movement control will be restored so she can use her talker at the speed she once did. Although it may not be soon, it is also possible that someday gene editing will allow her single point mutation to be repaired and restore her voice. At the very least we are hopeful the medical community can figure out how to prevent regression, psychosis, catanoia and death. For Amber's 15th birthday and for Rare Disease Day please donate to IDefine. IDefine is a US-Based Charity organization developed in 2020.
Our organization has three areas of focus: establishing a Kleefstra Syndrome Center of Excellence @ Boston Children's Hospital, funding scientific research and development, and building a network for community outreach and support. We have ambitious goals @ IDefine and will not stop until we find a cure!
All proceeds from this fundraising campaign will be routed through our Fiscal Sponsor (Player's Philanthropy Fund) and allocated directly to IDefine in support of defined Kleefstra research projects.
Please visit www.idefine.org for more information about our Charitable Foundation.
Thank you for your support!