hover over thumbnails to see pictures of Sasha
Sasha was born August 2005 prematurely. She was 36 weeks but struggled like a baby born at 27 weeks. Out of the first 40 days of life, she spent 28 of them in and out of ICU's with various issues ranging from heart to feeding complications. She was already beginning to give the doctors a run for their money!!!
Sasha was clearly not normal right from the start, but no one could figure out what it was that was not 'normal'. Some of her symptoms were neurological (she had low muscle tone and she had trouble eating, drinking, walking, and she would struggle when she exerted herself) - but there was never a 'clear' issue that stood out more than anything else.
She began receiving early intervention in the home to help her with her fine and gross motor skills (which she struggled with). At 9 months, Sasha's immune function was tested because she was ill for much of her first 9 months. Our worst fears were confirmed - like her brother Will, she too had an immune deficiency. We had hoped that her immune system would improve over time, but unfortunately the opposite occurred.
At 15 months, while on a 21 day course of Augumentin for a sinus infection, Sasha developed bi-lateral bacterial pneumonia. She was VERY VERY sick - and that was the final straw. The immunologist decided it was time for her to start Gammaglobulin replacement therapy. She began weekly infusions at 17 months and continues to receive them to this day. Like her brother, she has responded wonderfully to the treatments....but, like her brother, she still gets sick (and sometimes she gets REALLY sick) and it's STILL not a cure...and it's a treatment that carries some REAL risks.
As time went on, it was suspected that Sasha also carried the PDD-NOS diagnosis due to lack of social communication, lack of eye contact, repetitive behaviors but still - there were some things that just 'didn't fit' with the diagnosis. She began receiving more services within the home setting (26 hours per week). After many months of hard work and love and tears, she began to make progress and blossom into a spirited and amazingly beautiful little girl!
March 2008 was a really rough month for her - it seemed like everything was starting to come to a head. She was admitted to the hospital in order to have ALL the doctors converge together and try to figure out a plan of action for her. I don't think I've EVER seen SO many doctors at one time in my life....there were teams that would come in several times a day (it was almost like they were playing 'tag team' outside her room)...I just lost count of all of them...but all that mattered to me was that they were there to help my baby girl find some peace and comfort.
A plan was formed - but we were cautioned that this would NOT be an easy fix....she was complex and this would take TIME.
In April of 2008, Sasha had a seizure - which seemed to set off a series of events. She began having what appeared to be stroke like episodes (half of her face would droop and one of her eyelids would sag). She had left sided weakness and had significant trouble using the left side of her body to do much of anything. Her fatigue increased and she started having spells of unresponsiveness...we felt like Sasha was slipping away from us.
We were instructed to begin keeping a detailed photo, video, and written diary of all of the things that were happening to Sasha in hopes that it would shed some light on what was going on. The most concerning thing was that there were some AMAZING specialists in Boston that were seeing her - but none of them really had ANY idea of what to make of what was clearly happening to her....she was a mystery.
A specialist who's area of study was metabolism/genetics met with us in July - he had been sent all of the videos/photos that we had along with a 7 page family history prior to our visit with him. He walked in the room, greeted us and then told us almost right away that he thought he knew AT LEAST one thing that Sasha could possibly have....Episodic Ataxia Type 2 and Familial Hemiplegic Migraine (also known as EA2/FHM). He also felt that there was a possibility (as her neurologist had also suggested) that she had some type of Mitochondrial Disorder. We did the testing for it and waited....and waited...and waited...
Meanwhile, the symptoms progressed and Sasha continued to go downhill. She would have shaking spells (that weren't seizures) and she would spend many days complaining of terrible pain in her head - having trouble walking, talking, eating - and she was crying most of the time and very irritable (can you blame her?).
The neurologist scheduled her for MRI/MRA/MRS, lumbar puncture, and a muscle biopsy. At the last moment, we decided to wait to do the muscle biopsy as the genetic testing had not yet come back and we worried that we would do a test that might not need to be done if the genetic testing showed something....
Sure enough....after 3 months of waiting - Sasha's testing revealed that she had a NOVEL mutation in her EA2/FHM gene that has NEVER been seen before in ANY species (human/animal) - and it occurred in a critical region. The news wasn't great...but it was news nonetheless.
She also had a mutation in her mitochondrial DNA analysis thus continuing to lead them to believe that some type of mitochondrial dysfunction or disease were a factor in all of this. She began a trial period of Acetazolamide (which is used to treat patients with EA2/FHM) in November to see if it helped her symptoms - and, while it has helped with SOME of the symptoms, she STILL has the extreme fatigue with any exertion - her face still droops, and she still has terrible headaches.
Sasha was referred out of state for further evaluation with someone who specializes in Mitochondrial Disease and Episodic Ataxia Type 2/Familial Hemiplegic Migraine. In early March we drove down to Atlanta, GA to see the specialist. He ordered a litany of tests - including a fresh muscle biopsy, skin biopsy, lumbar puncture, and many vials of blood in order to get down to the bottom of what was going on with her. The procedures went well but the recovery was tough on little Miss Sasha. The test results will be back mid-May/early June - and we are hopeful that they produce results that are 'treatable'.
Despite it all, she continues to renew our strength and our determination with her sweet smile and her fierceness - she is a one woman army of love and fire...and we will not give up on our search for answers.
There are nights that I have found myself awake in bed wondering WHY in the world such a burden has been placed upon such a life so small...yet here we are....and we are fighting HARD to give both Will and Sasha the health, the comfort, the peace, the strength, the answers, and the love that ALL children deserve...that many take for granted.... These children are the most inspiring and AMAZING gifts from Heaven. They are warriors and lambs with a fierceness and tenderness that could light the way even in the darkest night.
Our journey with Sasha and Will, we've learned some amazing lessons.
We've learned that life is not always what you envisioned it would be - and that can be a tough pill to swallow...but somewhere in the thorns, there is beauty....and we have to try not to fix our eyes on the things that are wrong - we must fix our eyes on HOPE and hang on for dear life with our faith.
We teach our children that their illnesses do NOT define them....THEY define their illnesses....
My husband and I created a local group called "Team Hope" and joined with other families in our area that also have PIDD. The children (there are 8 of them) have found forever friends - children just like them who UNDERSTAND what they're going through - what a treasured gift that is! We do blood drives and fundraisers for the Immune Deficiency Foundation (IDF) in hopes to raise awareness and funding for research so that one day a cure may be found not only for our children - but for ALL who battle PIDD. We are also active in legislative efforts and will continue to advocate and 'Be The Voice' for all out there who need it.
The children have learned the value of 'being a voice' and the they have learned about the beauty of the human spirit as they have been blessed by many who have helped our cause in our communities!
We end all of our emails and requests for support with a saying I came up with... "It only takes ONE person to change ONE life...BE THE ONE" ... Truly...ONE person can make a difference - it doesn't matter how big or small - it matters that the heart was in it!
So...I end this with that same challenge....if not here...then somewhere else...I challenge you to BE THE ONE for SOMEONE out there who NEEDS you....you may never know how much it REALLY can touch someone....but trust me - it can mean the world!