The Beginning

The best I could do as a parent is give her the best time I could in the time that we had.

The dad of an infant diagnosed with Gaucher Type 2 shares that he knew he wasn't going to be the parent who focused on a cure in her lifetime -- it is such a rare disease, that moves so fast, and there wasn't a cure on the horizon. Quality of Life was the goal.

Our first child's fatal diagnosis, with a new pregnancy at same time.

The mom of a girl diagnosed with Sanfilippo describes the emotional journey she and her husband went on when they learned their daughter had a rare genetic disease at the same time that they had recently become pregnant again.  Would this child be affected? What were their options?

Sanfilippo: The road to diagnosis

The mom of a girl diagnosed with Sanfilippo describes the long journey to her diagnosis beginning at age 2. "I knew as soon as I read the description that that was what she had. . . . The doctor told us to go home and enjoy her. There was no treatment or cure that we could do at that point."

They were like an old couple: The Gauvin sibling love story.

Parents describe their two children, Beckett and Clementine, who both had a rare metabolic disorder from which they died within 8 weeks of each other at age 3 and 2. They were soul mates.

It’s really entering a whole new culture.

Pediatric psychologist Nancy Frumer Styon talks about how getting a life-limiting diagnosis for your child catapults parents into a new world with new languages and systems to learn.

There is a variety of responses.

Pediatric psychologist and grief counselor Nancy Frumer Styron describes the range of typical parental responses to learning that their child has a life-limiting illness, ranging from the mundane to the emotional and including differences between spouses.

Don’t try to fix it. You don’t have to do it all in one day.

Parents of a very medically complex son with life-limiting conditions (now 18) share that ‘it’ happens in phases and parents grow into each phase. It is a gradual progression. Take it one day at a time. Try not to think about the “What if’s.” Try not to plan.

I wish there had been more support and fewer decisions at the beginning.

The mother and father of a 5-year old with Leigh's Disease, a mitochondrial condition, talk about how pressed and rushed they felt at the beginning, after the diagnosis, to make decisions, to adjust and adapt to highly medical matters. "The transition from hospital to home was a lot to digest. There's no way a parent can digest so quickly. And you mourn the life you're not going to have."

Chaplain: “When this happens to me, to my child, Now What?”

A hospital chaplain talks about how the goal is to move parents from the WHY question (a natural reaction and expression of anger and confusion) to the NOW WHAT? Question – “How am I supposed to do this?” – and how chaplains can help parents with this.

SW: Guilt is natural

A pediatric palliative care social worker shares that parents often feel guilty that their child is sick, that this guilt is natural, and that parents then need to accept that there are some things that are not their fault and are beyond their control.

There’s a fine line between hope and acceptance.

Parents of a daughter with a progressive disorder talk about the jarring entrance into the new community of neurologically impaired children, the denial at the beginning, and the duality of accepting her prognosis while also hoping for a miracle.

I was drowning in grief but trying to avoid it.

A father talks about how the hardest part for him was acknowledging the grief. For the mother, it was the loss of her dreams for her son and the new day-to-day logistics.

Fundraising for Research: I was transported to Ben’s Future and I wasn’t ready for it

Parents of a boy diagnosed with SanFillipo Syndrome discuss their early response to the diagnosis. "We were spurred to action, butI think we went into the fundraising piece a bit naively. ... What I didn't hear from the doctor about the progression of the disease, I was hearing from parents."

Families aren't ready for all the information at the beginning.

Parents of a son with SanFilippo Syndrome caution that some families who were 'ahead' in the disease progression weren't helpful to talk to because they were focused on the more horrific aspects of the disease. Now, when the mom talks to new families, she just listens to what they're really asking and makes certain not to offload all the information, because they're not ready for it.

One day, I just stopped thinking about it so much.

The mom of a son with SanFilippo talks about her mindset shifted from grief about the losses ahead to coping and finding joy.

Finding an experimental trial, study drug.

The mother and father of a 5-year old with Leigh's Disease, a mitochondrial condition, talk about they did loads of research online, on their own, including Google Alerts, and learned about an experimental trial. "We had to educate ourselves in order to provide the best for our child."

So I started questioning …. And it was devastating.

The mother of a 12-year old with SMA Type 1 tells the story of his diagnosis: early signs, her gut instinct, the event that precipitated the diagnosis, her reaction.  "It's devastating to know that there is no way to fix it."

I’m like, I don’t need a bucket list right now.

A mother and father share how right after diagnosis and prognosis, she was ready to make memories while he only wanted to focus on finding a cure.

SMA ran in the family, and then it hit us in the face.

Parents of a boy with SMA Type 1 describe their son, what he loved, his personality, and then how he was diagnosed with SMA. The grandmother recognized the early symptoms as her son (Michael's uncle) died from SMA at 15 months. "if there was a family to be born into with SMA, we were the one."

Focus on the Here and Now

A mother and father talk about the power of listening to their daughter, taking their lead from her, and focusing on the present moment.

The best I could do as a parent is give her the best time I could in the time that we had.

Our first child's fatal diagnosis, with a new pregnancy at same time.

Sanfilippo: The road to diagnosis

They were like an old couple: The Gauvin sibling love story.

It’s really entering a whole new culture.

There is a variety of responses.

Don’t try to fix it. You don’t have to do it all in one day.

I wish there had been more support and fewer decisions at the beginning.

Chaplain: “When this happens to me, to my child, Now What?”

SW: Guilt is natural

There’s a fine line between hope and acceptance.

I was drowning in grief but trying to avoid it.

Fundraising for Research: I was transported to Ben’s Future and I wasn’t ready for it

Families aren't ready for all the information at the beginning.

One day, I just stopped thinking about it so much.

Finding an experimental trial, study drug.

So I started questioning …. And it was devastating.

I’m like, I don’t need a bucket list right now.

SMA ran in the family, and then it hit us in the face.

Focus on the Here and Now