About Anna
Being one of the oldest CHAMP’s diagnosed to date, Anna has a full story.
We are positive that before the diagnosis was given every CHAMP parent had looked for answers, some explanation on how this happened to your child and what it means; anything that could explain things a bit more in detail than the standard “your child has a non-diagnosed developmental delay”. When we went through this the frustration and fear we had were no different from anyone else, but for us we also had in the back of our mind that perhaps a health issue with Denise and it’s treatment been a contributing factor to her story.
In her 30’s, Denise became very sick with what was eventually diagnosed as Crohn’s Disease. After the birth of our first daughter her symptoms got much worse, to the point where surgery and a long term feeding tube was implanted in her stomach, as well as being put on a regular diet of some heavy duty drugs. Eventually she healed, life got somewhat back to normal and we were told that nothing that Denise had gone through would have an effect on her ability to have healthy and happy babies; if we wanted to have any more children well then go for it.
So we did. After some recovery time Denise became pregnant again and after a normal pregnancy Anna was born in January, 1993. She was a little blue at birth but we didn’t worry much about it. For the most part everything was normal, mom and baby were fine.
At the time of Anna’s birth Denise was a pediatric nurse-practitioner at Cincinnati Children’s Hospital with a specialization in developmental disabilities. By the time Anna was 5 months old we knew that something was wrong. She made no eye contact and her muscle tone was low. As time progressed, Anna missed other developmental milestones including sitting, walking, talking and holding on to anyone.
When Anna was 2, she couldn’t sit because of poor muscle tone. By the time she was 3, Anna would often get so frustrated at her inability to communicate that she would bang her head against the wall or bite or hit people.
We reached out to Denise’s co-worker experts at Cincinnati Children’s Hospital and it was recommended that Anna begin working with a speech therapist. The speech therapist gave Anna a method to communicate by using pictures, called the PECS System. This changed things for Anna dramatically when she started to understand and use it. Using the pictures was also a breakthrough to others in Anna’s life who now had a way to understand her needs, communicate with her and not just guess what she wanted.
At the age of about 12, when we lived in Wisconsin, Anna had begun to have regular episodes of uncontrolled vomiting, another un-named condition that we had no clue about how to address, control, or treat. She would be fine in the morning, start gagging and spitting up some after breakfast and then by noon throwing up blood; it always happened incredibly fast and for a time we never made plans farther that 24 hours out because things could go bad so quickly with her. Life stopped for the most part; her episodes were very regular, it seemed like every two months we were in the local hospital trying to stop the throwing up, hydrate her some, and sedate her so she could just rest and heal. Recovery always took at least a week. This went on for a number of years.
As we began to research the symptoms Denise found a reference in a medical paper about something called “Cyclic Vomit Syndrome” (CVS) and how it may be related to migraines, something that was common in Denise’s family. One of the authors of the paper was a Physician that was based in Milwaukee Children’s Hospital, which was a 4 hour drive away. An appointment was made, physicals done, tests completed and over a short period of time it was confirmed that Anna had CVS.
We were relieved to now have a name for something and a treatment plan. We changed Anna’s diet, gave her some supplements and over time the CVS episodes just basically stopped. This occurred at the same time that Anna entered puberty (which was ~19 for her) and to this day we are not sure what effect that may have had on her “recovery” but for whatever reason, CVS has essentially has become a non-issue for us. She still has times where she might have a very slight episode, but we have learned how to better manage her diet and to see what her triggers are so that we can address them right away. From having episodes every 6 to 8 weeks that required hospitalization to where we are now was a long stressful period but praise God, Anna has not been hospitalized for a CVS episode since Sept. 2009.
Where we lived in Wisconsin was very rural, the type of place where you never locked your house or car and were related to most people in town somehow. While this simple life was great for us we knew that in the “Northwoods” our long term options for Anna were limited, especially when it came to adult care. Because of this in February 2015 we closed our business, sold everything and moved back to our home town of Cleveland, Ohio where Denise’s mother still lived.
At this point our roles reversed, I basically became Anna’s full time caregiver, Denise obtained a job working for University Hospitals Rainbow Babies and Children’s Hospital in their Neonatal Intensive Care Unit. After what seemed like a lifetime we finally once again had readily accessible medical care.
One of the first things we did was get a genetic screening for Denise, Anna and myself. In December, 2015 we finally got the result; Anna’s “non-diagnosed developmental delay” was caused by something called a CHAMP1 mutation, and it was not caused by any of the medicines that Denise had been on for so long. After 22 years we were able to stop feeling guilty that something we had done had resulted in how Anna was.
So now we had a name and reason for what happened to Anna, but to be honest this did not really mean very much to us at the start, but we had a label now at least. Our geneticist told us at the time that this condition was so rare (we think Anna was the 8th or 9th person diagnosed at this time) that treatments, possible other health related issues, the potential full effect of the mutation, none of that was known and we should just come back in another year or so when we could get medical updates on what was being learned and studied about this CHAMP1 thing. She also suggested we do our own research on Google to see what we could learn about it.
I do not remember exactly how but I think that the discovery of the Facebook support group was made while searching Google about CHAMP1. We joined the group and honestly, as best I can remember I believe Jeff and Katis both reached out to us within a day, introducing themselves, the group, all that stuff. People started sending friend requests and we started paying more attention to what this whole thing was about.
Whether you are a CHAMP parent or something else in a similar position I am positive everyone can relate to how wearing it is if you are a 24/7 caregiver; not only the hardest thing you can be asked to do but it is mentally and physically taxing and extremely isolating. Even though Anna had been exposed to our family and friends for her whole life most people “just don’t get it”, I believe that unless you walk in our shoes you never can.
Right from the start it was a great relief to see what was being posted by the group, it turned out that someone in Wales had a daughter that was very much like Anna, that someone in California had advice on how to deal with sleep issues, someone else’s CHAMP had been on a drug Anna was on and they tried something else that worked better. All of a sudden we were not alone, these people lived our life, had our issues and “got it”, regardless of where they were in the world, what language they spoke or what they believed, we had that connection, a bond.
Moving ahead to the present, today Anna attends an Adult Day Program that we are blessed to be part of. We are both retired and are fortunate that we no longer have to balance the work/family issues most of you have to. Honestly how working parent’s, or single parent’s of CHAMP’s do it is a supreme effort in resiliency. You are all true CHAMP1ONs in our book.
Anna is medically complex and a challenge, recently she has had Thyroid issues and we had hers removed in March 2023. She also developed Celiac Disease which does cause feeding issues, something that has always been a problem for her. For the most part she is happy, loving and someone who will now randomly come up to people and give them hugs. She has also become at times quite the Diva!
Your CHAMP may be a lot like Anna, or nothing at all like her. Our advice is we all know how hard being a CHAMP parent is, how tiring, wearing and draining it is. You don’t know them yet but someone else knows the isolation, frustration, anger, and fear you have. Someone else knows the questions to ask, the CHAMP1 Foundation has other Warriors just like you. Reach out, get the advice, someone is always there to pass along a positive something and listen. Someone out there “get’s it”.
Along with that you will also have the gift of the new friends you will make, people that you may not ever see but when you do it will be like old friends getting together instead of new friends trying to find common ground. That is really a special gift that the CHAMP1 family gives.
