Beta-propeller Protein-Associated Neurodegeneration (BPAN) is one of 10 known Neurodegeneration with Brain Iron Accumulation (NBIA) disorders. It is caused by mutations in the WDR45 gene, located on the X chromosome. Children are developmentally delayed during childhood, with slow motor and cognitive gains. Most children are described as clumsy with unsteady, staggering movements while walking. Most kids have little to no development with verbal language. BPAN causes sleep disorders as well as seizure disorders. During adolescence or adulthood, BPANners as we call them, experience a relatively sudden onset of progressive dystonia-parkinsonism and cognitive decline. The decline is what all parent with BPANners fear, watching your child loose abilities they worked so hard to achieve. Also, in this stage the slightest illness or infection could turn from worse to deadly.
Life with a daughter with BPAN, is not an easy one. Much has to be done to prepare for her day, to keep her safe, engaged, happy and comfortable. The world around her is NOT ACCESSIBLE to her needs...mind you some places are better than others. It is my mission for our family to make our home as barrier free for her and as accessible to her, to be as independent as she can. Even a routine trip to doctors offices in town, grocery store, community centre, library, public washrooms and parks require a lot of planning and accommodations and at times limits her participation. Placement of objects in a room, automatic door openers, curbs and steps, narrow hallways/doorways and inadequate change areas in public washrooms are the most common barriers.
Currently, Hannah is globally delayed and does not walk. Her progress in gaining fine and gross motor movement had been very slow. She has low tone as well. Hannah uses some signs and is non verbal. NBIA doctors have confirmed that Hannah is on the severe side of the seizure disorder and seizures are harder to treat. This past week we got confirmation that she does indeed have Lennox Gastaut Syndrome. Thus, explaining her experiences with seizures everyday. She becomes so tired that it make the simplest tasks harder for her and she requires 24/7 supervision. This type of epilepsy will always affect her development and the seizures themselves will evolve. We pray she never experiences a gran-mal seizure. Hannah also has a condition known as Congenital Adrenal Hyperplasia. Her immune systems works harder and requires medicine to fight the simplest cold. Keeping her healthy is so important, it directly relates to her quality of life.
She was diagnosed with this horrible disease two and half years ago. Although we knew something was wrong early on, we heard the horrible news that this disease is degenerative and fatal when she was 2.5 yrs old. There is NO CURE and it is progressive. My husband and I felt like our world stopped moving for about a year as we came to terms with this diagnosis and the reality that our precious Hannah's life will be shorter than most.
Hannah relies on us and others to think ahead and make sure she can get around places in her wheelchair. As any loving parent would, we want the best for all our children and we are willing do the extraordinary to give Hannah and her sibling the best life possible within our means. Finding a home that can work for us while still staying in the GTA for better work opportunities has been the toughest financial decision yet. We recently moved for the second time in hopes of finding a home in Milton that is better suited long-term for someone in a wheelchair. Bungalows are the most ideal, yet they do not come up often and even if they did they are older in age and require more work and money to make them accessible. This last move has been good for us in that we were able to finance our own accessible bathroom, bedroom and basement renovation. We also purchased stairlifts and Hannah is now able to access all floors of the house. This is not ideal but we are making it work. The thought of moving again is daunting and we want to be as set up for her for the long term.
We hope Hannah is far from her the decline...and pray for treatment to help her. In the meantime we hang on to hope and faith that God will give her a long life. No parent wants to think about their child leaving this earth before them, but that is her reality. Since Hannah's diagnosis, we have seen 3 precious souls with BPAN leave us. This and for many other reasons, my husband and I want to give Hannah and her siblings ( Emily 6, and Samuel 1) the best life has to offer. We want to have a lifetime filled with happy memories of Hannah and remember her as a beautiful soul that lights up the world with her smile and infectious giggle.
No parent wants to reach out and ask anyone for money to help their children. However, we choose to look at it that those who love our Hannah want to make her life that much better and are warriors with us. Luc and I are humbled by the generosity around us and we are ready to ask for some help. We have used what we have saved to do our renovation, yet Hannah’s medical expenses and needs feel like they are never ending and so costly. This is a huge burden to bare alone. We are currently in the need of an accessible van, which can run in the 50-60K’s. To make the full transition from outside to inside our home we also need to make modifications to our entrances with a ramp or porch lift so that she can access both the front and back entrances of the house. This summer she enjoyed the above ground pool in our backyard and getting her out the back door was very difficult. I can’t even begin to explain the toll it is taking on our bodies to be carrying her at every transition point. She is also at an weight and height where it is not safe for her.
Time is of the essence. We wish we had the time save on our own to do all of this, but we don’t. What we do know is that BPAN, is progressive and that people with this horrible disease live shorter lives. We do not know how many “good” years we have left and want to make the best of every day.
We thank you in advance for your generosity, support and love for Hannah. God bless you always.
If you are interested in following Hannah on Facebook here is a link to her Facebook page that we keep updated regularly: https://www.facebook.com/Hannahs-Journey-BPAN-a-Subtype-Of-NBIA-137074823450082/
We were also featured in the local newspaper. https://www.insidehalton.com/news-story/7516613-milton-family-remains-positive-in-face-of-daughter-s-rare-diagnosis/
- DJ Mitra
- Karen Mistruzzi Canning
- Adriana Calderon
- Trevor Buttrum
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